CITAS BIBLIOGRÁFICAS
REFERENCES

Septiembre - Octubre 2018
September - October 2018


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Aging - Envejecimiento

TÍTULO / TITLE:   - Plasma and CSF biomarkers for the diagnosis of Alzheimer’s disease in adults with Down syndrome: a cross-sectional study.

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REVISTA / JOURNAL:    - Lancet Neurol. 2018 Oct;17(10):860-869. doi: 10.1016/S1474-4422(18)30285-0. Epub 2018 Aug 29.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/S1474-4422(18)30285-0

AUTORES / AUTHORS: - Fortea J; et al.

INSTITUCIÓN / INSTITUTION: - Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau-Biomedical Research Institute Sant Pau-Universitat Autonoma de Barcelona, Barcelona, España; Barcelona Down Medical Center, Fundacio Catalana Sindrome de Down, Barce 

RESUMEN / SUMMARY: - BACKGROUND: Diagnosis of Alzheimer’s disease in Down syndrome is challenging because of the absence of validated diagnostic biomarkers. We investigated the diagnostic performance of plasma and CSF biomarkers in this population. METHODS: We did a cross-sectional study of adults aged 18 years and older with Down syndrome enrolled in a population-based health plan in Catalonia, España. Every person with Down syndrome assessed in the health plan was eligible to enter the Down Alzheimer Barcelona Neuroimaging Initiative, and those with a plasma or CSF sample available were included in this study. Participants underwent neurological and neuropsychological examination and blood sampling, and a subset underwent a lumbar puncture. Adults with Down syndrome were classified into asymptomatic, prodromal Alzheimer’s disease, or Alzheimer’s disease dementia groups by investigators masked to biomarker data. Non-trisomic controls were a convenience sample of young (23-58 years) healthy people from the Sant Pau Initiative on Neurodegeneration. Amyloid-beta (Abeta)1-40, Abeta1-42, total tau (t-tau), 181-phosphorylated tau (p-tau; only in CSF), and neurofilament light protein (NfL) concentrations were measured in plasma with a single molecule array assay and in CSF with ELISA. Plasma and CSF biomarker concentrations were compared between controls and the Down syndrome clinical groups. Diagnostic performance was assessed with receiver operating characteristic curve analyses between asymptomatic participants and those with prodromal Alzheimer’s disease and between asymptomatic participants and those with Alzheimer’s disease dementia. FINDINGS: Between Feb 1, 2013, and Nov 30, 2017, we collected plasma from 282 participants with Down syndrome (194 asymptomatic, 39 prodromal Alzheimer’s disease, 49 Alzheimer’s disease dementia) and 67 controls; CSF data were available from 94 participants (54, 18, and 22, respectively) and all 67 controls. The diagnostic performance of plasma biomarkers w

TÍTULO / TITLE:   - Elimination of amyloid precursor protein in senile plaques in the brain of a patient with Alzheimer-type dementia and Down syndrome.

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REVISTA / JOURNAL:    - Brain Dev. 2018 Aug 4. pii: S0387-7604(18)30376-0. doi: 10.1016/j.braindev.2018.07.017.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.braindev.2018.07.017

AUTORES / AUTHORS: - Arai Y;

INSTITUCIÓN / INSTITUTION: - Department of Child Neurology, Tokyo Metropolitan Tobu Medical Center for Persons with Developmental/Multiple Disabilities, Japan 

RESUMEN / SUMMARY: - The average lifespan of individuals with Down syndrome has approximately doubled over the past three decades to 55-60years. To reveal the pathogenic process of Alzheimer-type dementia in individuals with Down syndrome, we immunohistochemically examined senile plaque formation in the cerebral cortex in the autopsy brain and compared findings with our previous studies. We described a 52-year-old female with Down syndrome who developed progressively more frequent myoclonus following cognitive decline and died at the age of 59years. Her karyotype [46XX, inv(9)(p12q13), i(21)(q10)] included triplication of the gene for amyloid precursor protein and the Down syndrome critical region. On microscopy, very few gamma-aminobutyric acid-ergic (GABAergic) neurons, in the form of small granular cells, in the cortex and Purkinje cells in the cerebellum were visible. In our previous study, amyloid precursor protein immunoreactivity was first noted in senile plaques at the age of 32years. In this patient, even though amyloid beta immunoreactivity was detected in the cores of senile plaques and diffuse plaques, amyloid precursor protein immunoreactivity was not noted in senile plaques in the frontal cortex. Amyloid precursor protein and its derivative amyloid-beta play an important role in the formation of senile plaques and the time course of immunoreactive expression may be related to the pathogenic process of Alzheimer-type dementia.

TÍTULO / TITLE:   - White matter involvement in young non-demented Down’s syndrome subjects: a tract-based spatial statistic analysis.

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REVISTA / JOURNAL:    - Neuroradiology. 2018 Sep 27. pii: 10.1007/s00234-018-2102-5. doi: 10.1007/s00234-018-2102-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00234-018-2102-5

AUTORES / AUTHORS: - Romano A et al, Moraschi M;

INSTITUCIÓN / INSTITUTION: - NESMOS, Department of Neuroradiology, S. Andrea Hospital, University Sapienza, Rome, Italy 

RESUMEN / SUMMARY: - PURPOSE: Cognitive decline in Down syndrome generally shows neurodegenerative aspects similar to what is observed in Alzheimer’s disease. Few studies reported information on white matter integrity. The aim of this study was to evaluate white matter alterations in a cohort of young Down subjects, without dementia, by means of DTI technique, compared to a normal control group. METHODS: The study group consisted of 17 right-handed subjects with DS and many control subjects. All individuals participating in this study were examined by MR exam including DTI acquisition (32 non-coplanar directions); image processing and analysis were performed using FMRIB Software Library (FSL version 4.1.9, fmrib.ox.ac.uk/fsl )) software package. Finally, the diffusion tensor was estimated voxel by voxel and the FA map derived from the tensor. A two-sample t test was performed to assess differences between DS and control subjects. RESULTS: The FA is decreased in DS subjects, compared to control subjects, in the region of the anterior thalamic radiation, the inferior fronto-occipital fasciculum, the inferior longitudinal fasciculum, and the cortico-spinal tract, bilaterally. CONCLUSIONS: The early white matter damage visible in our DS subjects could have great impact in the therapeutic management, in particular in better adapting the timing of therapies to counteract the toxic effect of the deposition of amyloid that leads to oxidative stress.

TÍTULO / TITLE:   - Rapamycin Treatment Ameliorates Age-Related Accumulation of Toxic Metabolic Intermediates in Brains of the Ts65Dn Mouse Model of Down Syndrome and Aging.

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REVISTA / JOURNAL:    - Front Aging Neurosci. 2018 Sep 6;10:263. doi: 10.3389/fnagi.2018.00263. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fnagi.2018.00263

AUTORES / AUTHORS: - Duval N; et al.

INSTITUCIÓN / INSTITUTION: - Department of Biological Sciences, Knoebel Institute for Healthy Aging, and Eleanor Roosevelt Institute, University of Denver, Denver, CO, United States. 

RESUMEN / SUMMARY: - Down syndrome (DS), caused by trisomy of chromosome 21, is the most common genetic cause of intellectual disability. Individuals with DS exhibit changes in neurochemistry and neuroanatomy that worsen with age, neurological delay in learning and memory, and predisposition to Alzheimer’s disease. The Ts65Dn mouse is the best characterized model of DS and has many features reminiscent of DS, including developmental anomalies and age-related neurodegeneration. The mouse carries a partial triplication of mouse chromosome 16 containing roughly 100 genes syntenic to human chromosome 21 genes. We hypothesized that there would be differences in brain metabolites with trisomy and age, and that long-term treatment with rapamycin, mechanistic target of rapamycin (mTOR) inhibitor and immunosuppressant, would correct these differences. Using HPLC coupled with electrochemical detection, we identified differences in levels of metabolites involved in dopaminergic, serotonergic, and kynurenine pathways in trisomic mice that are exacerbated with age. These include homovanillic acid, norepinephrine, and kynurenine. In addition, we demonstrate that prolonged treatment with rapamycin reduces accumulation of toxic metabolites (such as 6-hydroxymelatonin and 3-hydroxykynurenine) in aged mice.

Cardiology - Cardiología

TÍTULO / TITLE:   - Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients.

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REVISTA / JOURNAL:    - Pediatr Cardiol. 2018 Aug 13. pii: 10.1007/s00246-018-1951-3. doi: 10.1007/s00246-018-1951-3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00246-018-1951-3

AUTORES / AUTHORS: - Alharbi KM; et al.

INSTITUCIÓN / INSTITUTION: - Pediatrics Department, College of Medicine, Taibah University Almadinah, Medina, Kingdom of Saudi Arabia 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common autosomal chromosome anomaly. DS is frequently associated with congenital heart disease (CHD). Patients with DS have 40-60% chance of having CHD. It means that CHD in DS is not only due to trisomy 21 and there are some other genetic factors underlying CHD in DS children. In this study, a total of 240 DNA samples from patients were analyzed including 100 patients with CHD only, 110 patients having CHD along with DS and 30 patients with isolated DS. A cardiovascular gene panel consisting of probes for 406 genes was used to screen DNA samples of all 240 patients for mutation identification. All variants were annotated and common variants were obtained. Briefly, 28 common variants (variants common in two or more than two individuals) were obtained in a group of samples containing DNA from DS patients having CHD as well, 63 variants were found to be unique to DS group of samples and 73 variants have been identified in patients with CHD only. In order to identify genomic variations determining the risk for CHD in DS, only those variants present in DS-CHD group and absent in isolated CHD and/or isolated DS group were considered for further analysis. Variants specific to DS-CHD group were further evaluated based on expression and function data and pathogenicity of the variant of interest. We have implicated mutations in GATA3, KCNH2, ENG, FLNA, and GUSB genes as an underlying risk factor for CHD in DS

TÍTULO / TITLE:   - Blood Pressure Elevation and Risk of Moyamoya Syndrome in Patients With Trisomy 21.

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REVISTA / JOURNAL:    - Pediatrics. 2018 Sep 6. pii: peds.2018-0840. doi: 10.1542/peds.2018-0840.

Enlace a la Editora de la Revista http://dx.doi.org/10.1542/peds.2018-0840

AUTORES / AUTHORS: - Santoro JD

INSTITUCIÓN / INSTITUTION: - Division of Child Neurology, Department of Neurology, jsantoro@stanford.edu. 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are at risk for the development of moyamoya syndrome (MMS); MMS is often recognized only after a resulting stroke has occurred. Our goal with this study was to determine if elevations in blood pressure (BP) precede acute presentation of MMS in individuals with DS. METHODS: A single-center, retrospective case-control study was performed. Thirty patients with MMS and DS and 116 patients with DS only were identified retrospectively. Three BP recordings were evaluated at set intervals (18-24 months, 12-18 months, and 6-12 months before diagnosis of MMS). These were then compared against control averages from patients with DS only. To assess changes over the time, we used general linear model repeated measures analysis of variance. To identify independent predictors of MMS and DS, we used a multivariable analysis using generalized estimating equations accounting for repeated measures of BP. RESULTS: BP in patients with MMS and DS rose significantly over the 24-month period preceding presentation (34th, 42nd, and 70th percentiles at the 18-24-month, 12-18-month, and 6-12-month periods, respectively). BPs in the patients with both MMS and DS were significantly higher than in the DS-only controls in the 6 to 12 (P < .001) and 12 to 18 months before presentation (P = .016). Higher Suzuki scores, bilateral disease, and posterior circulation involvement were also predictive of BP elevation before presentation. CONCLUSIONS: Elevations in BP may foreshadow presentation of MMS in individuals with DS. This simple, low-cost screening measure may lead to early identification of at-risk patients in the medical home and prevent irreversible neurologic injury.

Dental - Dental

TÍTULO / TITLE:   - A study of the dental treatment needs of special patients: cerebral paralysis and Down syndrome.

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REVISTA / JOURNAL:    - Eur J Paediatr Dent. 2018 Sep;19(3):233-238. doi: 10.23804/ejpd.2018.19.03.12.

Enlace a la Editora de la Revista http://dx.doi.org/10.23804/ejpd.2018.19.03.12

AUTORES / AUTHORS: - Rodriguez Peinado N; et al.

INSTITUCIÓN / INSTITUTION: - Dentist. Odontopediatric Honorary collaborator, PhD, Department of Stomatology IV. School of Dentistry. Universidad Complutense de Madrid. 

RESUMEN / SUMMARY: - AIM: The aim of the present study was to compare the dental characteristics and the oral health care needs of patients with Cerebral Paralysis (CP) and Down Syndrome (DS). MATERIALS AND METHODS: The selected sample consisted of 28 patients of both sexes between 10 and 20 years of age. STUDY DESIGN: observational, descriptive and cross-sectional study. STATISTICS: The statistical analysis was carried out with the SPSS 19.0 program for Windows. The frequency distribution and contingency tables were analysed, as was interobserver concordance. non mi e chiaro cosa intendono qui. RESULTS: Fifty percent of the patients with CP presented dental traumas, compared to 15% of the patients with DS. Dental prophylaxis was the most prevalent treatment in both groups (77% in CP compared to 86.7% in DS). The most frequent habit was oral breathing, which was found in 69.2% of the patients with CP and 80% of those with DS. CONCLUSIONS: Patients with CP and DS require early dental care in order to prevent and limit the severity of the pathologies observed.

TÍTULO / TITLE:   - Perception of parents/caregivers on the oral health of children/adolescents with Down syndrome.

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REVISTA / JOURNAL:    - Spec Care Dentist. 2018 Sep 5. doi: 10.1111/scd.12321.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/scd.12321

AUTORES / AUTHORS: - Scalioni F et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil. 

RESUMEN / SUMMARY: - Oral health affects the general health of people with Down syndrome (DS), with repercussions on their ability to chew and to communicate. OBJECTIVE: To evaluate the influence of sociodemographic characteristics and clinical indicators on the perceptions of parents/caregivers regarding the oral health of individuals with DS. METHODS: Parents/caregivers completed a questionnaire containing sociodemographic information and answered the 20 questions of the Brazilian version of the Oral Health Scale for People with DS. Intra-oral clinical exam of children/adolescents was performed to assess dental caries, periodontal disease, and malocclusion. Descriptive statistics, bivariate analyses, and Poisson regression model analyses were carried out. RESULTS: In this study, 55.1% of the parents/caregivers showed a positive perception regarding the oral health of their children/adolescents. Parents/caregivers of individuals between 4 and 9 years old (Prevalence Ratio (PR) = 1.13; Confidence Interval (CI), 1.04 - 1.23; p = 0.003) and parents/caregivers of those with definite malocclusion (PR = 1.14; CI, 1.00 - 1.31; p = 0.047) had a higher prevalence of reporting a more negative perception of their children’s/adolescents’ oral health. CONCLUSION: DS individuals’ age and the severity of malocclusion were indicators of a more negative perception of parents/caregivers regarding their sons’/daughters’ oral health.

Dermatology - Dermatología

TÍTULO / TITLE:   - Hair Mineral and Trace Element Content in Children with Down’s Syndrome.

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REVISTA / JOURNAL:    - Biol Trace Elem Res. 2018 Sep 12. pii: 10.1007/s12011-018-1506-8. doi: 10.1007/s12011-018-1506-8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s12011-018-1506-8

AUTORES / AUTHORS: - Grabeklis AR; ... Skalny AV;

INSTITUCIÓN / INSTITUTION: - Yaroslavl State University, Yaroslavl, Russia. skalny3@microelements.ru. 

RESUMEN / SUMMARY: - The objective of the present study was to assess the level of minerals and trace elements in 40 children with Down’s syndrome and 40 controls aged 1-2 years old. Hair mineral and trace element analysis was performed using inductively coupled plasma mass spectrometry. The obtained data demonstrate that hair levels of Mg, P, I, Cr, Si, Zn, and Pb in Down’s syndrome patients exceeded the respective control values by 36, 36, 93, 57, 45, 28, and 54%, whereas hair mercury was more than twofold lower in children with Down’s syndrome. The observed difference in the levels of trace elements was age-dependent. In particular, in 1-year-olds, major differences were observed for essential elements (Cr, Si, Zn), whereas in 2-year-olds-for toxic elements (Hg, Pb). At the same time, hair P levels in Down’s syndrome patients were 14 and 35% higher at the age of 1 and 2 years in comparison to the respective controls. Multiple regression analysis demonstrated that a model incorporating all elements, being characterized by a significant group difference, accounted for 42.5% of status variability. At the same time, only hair phosphorus was significantly interrelated with Down’s syndrome status (beta = 0.478; p < 0.001). Principal component analysis (PCA) used As, Ca, Cr, Fe, Hg, I, Mg, P, Pb, Se, Si, Sn, and Zn as predictors, with the resulting R(2) = 0.559. The OPLS-DA models also separated between Down’s and health control groups. Therefore, 1-2-year-old patients with Down’s syndrome are characterized by significant alterations of mineral and trace element status.

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - A mixed methods study of the management of hearing loss associated with otitis media with effusion in children with Down syndrome.

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REVISTA / JOURNAL:    - Clin Otolaryngol. 2018 Sep 17. doi: 10.1111/coa.13228.

Enlace a la Editora de la Revista Clin Otolaryngol. 2018 Sep 17. doi: 10.1111/coa.13228.

AUTORES / AUTHORS: - Hall A ... Bruce IA;

INSTITUCIÓN / INSTITUTION: - Paediatric ENT Department, Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.;  

RESUMEN / SUMMARY: - OBJECTIVES: To scope current service provision across England for management of otitis media with effusion and hearing loss in children with Down syndrome; to explore professional decision making about managing otitis media with effusion and hearing loss; to explore patient and public views on the direction of future research. DESIGN: Mixed methods including a service evaluation of NHS clinical practice through a structured telephone survey; a qualitative study of professional decision making with in-depth interviews collected and analysed using grounded theory methods; patient/public involvement consultations. PARTICIPANTS: 21 audiology services in England took part in the evaluation; 10 professionals participated in the qualitative study; 21 family members, 10 adults with Down syndrome and representatives from two charities contributed to the consultations. RESULTS: There was variation across services in the frequency of routine hearing surveillance, approaches to managing conductive hearing loss in infancy and provision of hearing aids and grommets. There was variation in how professionals describe their decision making, reflecting individual treatment preferences, differing approaches to professional remit and institutional factors. The consultations identified that research should focus on improving practical support for managing the condition and supporting decision making about interventions. CONCLUSIONS: There is system level variation in the provision of services, and individual level variation in how professionals make clinical decisions. As a consequence there is inequity of access to hearing healthcare for children with Down syndrome. Future research should focus on developing core outcomes for research and care, and on improving decision support for families. This article is protected by copyright. All rights reserved.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Occurrence of Hypothyroidism, Diabetes Mellitus, and Celiac Disease in Emirati Children with Down’s Syndrome.

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REVISTA / JOURNAL:    - Oman Med J. 2018 Sep;33(5):387-392. doi: 10.5001/omj.2018.72.

Enlace a la Editora de la Revista http://dx.doi.org/10.5001/omj.2018.72

AUTORES / AUTHORS: - Abdulrazzaq Y; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, UAE.; 

RESUMEN / SUMMARY: - Objectives: Autoimmune diseases are known to occur in people with Down’s syndrome (DS), especially celiac disease, type 1 diabetes mellitus (DM), and hypothyroidism. Since there are common genetic risk factors involved in the occurrence of these autoimmune disorders, the risks would differ in different populations. We sought to determine the prevalence of type 1 DM, celiac disease, and hypothyroidism in Emirati patients with DS in Abu Dhabi, UAE. Methods: Ninety-two patients with DS were investigated for the presence of anti-thyroid antibodies, antithyroglobulin, and anti-thyroid peroxidase antibodies for hypothyroidism, anti-glutamic acid decarboxylase antibodies for type 1 DM, and anti-tissue transglutaminase immunoglobulin A antibodies for celiac disease. Results: Karyotyping was performed on 89 patients. Eighty-seven had non-disjunction of chromosome 21 (97.8%), one was a mosaic, and one had translocation. Of the patients studied, 19.6% had hypothyroidism, 4.3% had type 1 DM, and 1.1% had celiac disease. Out of the 92 patients studied, 66 (71.7%) did not have any autoimmune disease, 25 (27.2%) had one autoimmune disease, and one (1.1%) had two autoimmune diseases. Conclusions: Celiac disease was the least prevalent autoimmune disease in patients with DS patients, while type 1 DM and hypothyroidism were both significantly associated with DS.

TÍTULO / TITLE:   - Thyroid Stimulating Hormone Level at Diagnosis as a Predictor of Persistent Subclinical Hypothyroidism in Children with Down Syndrome.

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REVISTA / JOURNAL:    - Indian Pediatr. 2018 Jul 15;55(7):576-578.

Enlace a la Editora de la Revista http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=30129539&dopt=Abstract

AUTORES / AUTHORS: - Sankar HV; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Government Medical College, Thiruvananthapuram, Kerala, India. Correspondence to: Dr Hariharan Vaikom Sankar, Additional Professor, Department of Pediatrics, Government Medical College, Thiruvananthapuram 695 011,  

RESUMEN / SUMMARY: - To evaluate subclinical hypothyroidism in a cohort of children with Down syndrome and identify a TSH level at the time of diagnosis to predict persistent hypothyroidism. METHODS: 192 children (age <3 years) with Down syndrome, registered in the Genetic Clinic of a referral tertiary care Hospital from 2010 to 2015 were evaluated with thyroid function test at initial visits and subsequently based on standard protocol. Children with subclinical hypothyroidism were evaluated at 3 years of age after discontinuation of thyroxine for 3 months. RESULTS: 47 (24.5%) children had elevated TSH and among them 43 (91.5%) had subclinical hypothyroidism. Among the subclinical hypothyroidism group, 25 (73.5%) had transient hypothyroidism and 9 (26.5%) persistent hypothyroidism. Initial TSH level at the time of diagnosis was higher in persistent hypothyroidism group as compared to transient group (P= 0.003). The best cut-off level for prediction of persistent hypothyroidism for initial TSH level was 11.6 mIU/L. CONCLUSION: Subclinical hypothyroidism, especially transient, is the commonest form of thyroid dysfunction in children with Down syndrome. The initial TSH level may help to predict the possibility of persistence of hypothyroidism.

TÍTULO / TITLE:   - Neonatal cholelithiasis in Down syndrome: Is hypothyroidism involved? A case-report.

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REVISTA / JOURNAL:    - J Neonatal Perinatal Med. 2018 Aug 23. pii: NPM181. doi: 10.3233/NPM-181.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/NPM-181

AUTORES / AUTHORS: - Ricci F et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - We report a 3-month-old male with Down syndrome (DS), prolonged jaundice and poor weight gain, that showed biliary lithiasis and undiagnosed congenital hypothyroidism (CH).CH should be considered in DS, especially in presence of gastrointestinal symptoms or malformations. Clinicians should be aware of the increased risk of gallstones in hypothyroid children with DS, even in neonatal age.

Epidemiology - Epidemiología

TÍTULO / TITLE:   - Integrating a Geneticist in a Multidisciplinary Clinic for Down Syndrome Increases Commitment to Genetic Counseling.

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REVISTA / JOURNAL:    - Pediatr Qual Saf. 2017 Aug 25;2(5):e039. doi: 10.1097/pq9.0000000000000039. eCollection 2017 Sep-Oct

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/pq9.0000000000000039

AUTORES / AUTHORS: - Santoro SL; et al

INSTITUCIÓN / INSTITUTION: - Division of Genetics, Nationwide Children’s Hospital, Columbus, Ohio; Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, Ohio; Quality Improvement Services, Nationwide Children’s Hospital, Columbus, Ohio; and Director 

RESUMEN / SUMMARY: - Background: Although most physicians and genetic professionals are familiar with Down syndrome, many families do not have experience with Down syndrome before having a child diagnosed. The American Academy of Pediatrics has specific recommendations for genetic counseling and chromosome analysis for Down syndrome. Local Problem: The literature indicates that adherence to completion of appropriately timed genetic counseling is low at 31%. This study was initiated to determine our adherence rates and to improve if needed. Methods: In the Down syndrome clinic at Nationwide Children’s Hospital, a subspecialty clinic in the Division of Developmental and Behavioral Pediatrics, a genetic counselor was on-call but did not routinely attend. The intervention consisted of multidisciplinary care with the presence of a clinical geneticist. Statistical Process Control Charts and Fisher’s exact test were used to determine the impact of the intervention. Results: Our baseline rate of adherence to genetic counseling was similar to previous publications. Direct genetics involvement in the Down syndrome clinic in place of an on-call genetic counselor led to significant improvement in adherence to genetic counseling recommendations over a 6-month period from 35% to 62%, P < 0.001 and sustained for 6 months. Postclinic adherence rates and subanalyses by age showed similar results. The final postvisit adherence rate of 89% in February 2017 demonstrates continued improvement. Geneticist involvement allowed chromosome reports uploading and karyotype listing in electronic medical records. Implications and Lessons Learned: Genetic counseling in newborns with Down syndrome is important, yet was often not received at Nationwide Children’s Hospital before this study. Integrating a geneticist resulted in improvement. Implementing similar models at other institutions can ensure that the correct genetic testing is completed, results documented and families counseled appropriately.

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Occurrence of Hypothyroidism, Diabetes Mellitus, and Celiac Disease in Emirati Children with Down’s Syndrome.

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REVISTA / JOURNAL:    - Oman Med J. 2018 Sep;33(5):387-392. doi: 10.5001/omj.2018.72.

Enlace a la Editora de la Revista http://dx.doi.org/10.5001/omj.2018.72

AUTORES / AUTHORS: - Abdulrazzaq Y; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, UAE.;  

RESUMEN / SUMMARY: - Objectives: Autoimmune diseases are known to occur in people with Down’s syndrome (DS), especially celiac disease, type 1 diabetes mellitus (DM), and hypothyroidism. Since there are common genetic risk factors involved in the occurrence of these autoimmune disorders, the risks would differ in different populations. We sought to determine the prevalence of type 1 DM, celiac disease, and hypothyroidism in Emirati patients with DS in Abu Dhabi, UAE. Methods: Ninety-two patients with DS were investigated for the presence of anti-thyroid antibodies, antithyroglobulin, and anti-thyroid peroxidase antibodies for hypothyroidism, anti-glutamic acid decarboxylase antibodies for type 1 DM, and anti-tissue transglutaminase immunoglobulin A antibodies for celiac disease. Results: Karyotyping was performed on 89 patients. Eighty-seven had non-disjunction of chromosome 21 (97.8%), one was a mosaic, and one had translocation. Of the patients studied, 19.6% had hypothyroidism, 4.3% had type 1 DM, and 1.1% had celiac disease. Out of the 92 patients studied, 66 (71.7%) did not have any autoimmune disease, 25 (27.2%) had one autoimmune disease, and one (1.1%) had two autoimmune diseases. Conclusions: Celiac disease was the least prevalent autoimmune disease in patients with DS patients, while type 1 DM and hypothyroidism were both significantly associated with DS.

TÍTULO / TITLE:   - Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR). LINK: Link to its Abstract

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REVISTA / JOURNAL:    - Pediatr Surg Int. 2018 Sep 14. pii: 10.1007/s00383-018-4344-z. doi: 10.1007/s00383-018-4344-z.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00383-018-4344-z

AUTORES / AUTHORS: - Moore SW;

INSTITUCIÓN / INSTITUTION: - Division of Paediatric Surgery, Faculty of Medicine and Health Sciences, University of Stellenbosch, PO Box 241, Cape Town, South Africa. 

RESUMEN / SUMMARY: - The clinical association between Trisomy 21 (Down syndrome) and aganglionosis (Hirschsprung disease; DS-HSCR) is well-established, being of the order of 5% and remains the most common congenital association with Hirschsprung disease. However, little consensus exists as to the possible etiologic and genetic factors influencing this association. Recent research has identified a number of levels at which development of the enteric nervous system is potentially affected in Trisomy 21. These include a decreased central pool of available neuroblasts for migration into the enteric nervous system, abnormal neuroblast type, poor synaptic nerve function and early germline gene-related influences on the migrating neuroblasts due to genetic mutations of a number of important developmental genes, and possible somatic mutations resulting from alterations in the local tissue microenvironment. In this paper, we review available evidence for this association. In addition, we provide evidence of both germline and somatic gene mutations suggesting causation. Although the picture is complex, recent associations between specific RET proto-oncogene variations have been shown to be significant in Down syndrome patients with Hirschsprung disease, as they probably interfere with vital RET functions in the development of the autonomic and enteric nervous systems, increasing the risk of disturbed normal function. In addition, we explore potential role of other facilitatory influence of other susceptibility genes as well as potential other chromosome 21 gene actions and the microenvironment on the Down syndrome gastro-intestinal tract. The various ways in which trisomy of chromosome influences the enteric nervous system are becoming clearer. The sum of these effects influences the outcome of surgery in Down syndrome patients with Hirschsprung Disease.

TÍTULO / TITLE:   - Neonatal cholelithiasis in Down syndrome: Is hypothyroidism involved? A case-report. LINK: Link to its Abstract

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REVISTA / JOURNAL:    - J Neonatal Perinatal Med. 2018 Aug 23. pii: NPM181. doi: 10.3233/NPM-181.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/NPM-181

AUTORES / AUTHORS: - Ricci F et al

INSTITUCIÓN / INSTITUTION: - We report a 3-month-old male with Down syndrome (DS), prolonged jaundice and poor weight gain, that showed biliary lithiasis and undiagnosed congenital hypothyroidism (CH).CH should be considered in DS, especially in presence of gastrointes 

RESUMEN / SUMMARY: -

Genetics - Genética

TÍTULO / TITLE:   - Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients.

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REVISTA / JOURNAL:    - Pediatr Cardiol. 2018 Aug 13. pii: 10.1007/s00246-018-1951-3. doi: 10.1007/s00246-018-1951-3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00246-018-1951-3

AUTORES / AUTHORS: - Alharbi KM; et al.

INSTITUCIÓN / INSTITUTION: - Pediatrics Department, College of Medicine, Taibah University Almadinah, Medina, Kingdom of Saudi Arabia. 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common autosomal chromosome anomaly. DS is frequently associated with congenital heart disease (CHD). Patients with DS have 40-60% chance of having CHD. It means that CHD in DS is not only due to trisomy 21 and there are some other genetic factors underlying CHD in DS children. In this study, a total of 240 DNA samples from patients were analyzed including 100 patients with CHD only, 110 patients having CHD along with DS and 30 patients with isolated DS. A cardiovascular gene panel consisting of probes for 406 genes was used to screen DNA samples of all 240 patients for mutation identification. All variants were annotated and common variants were obtained. Briefly, 28 common variants (variants common in two or more than two individuals) were obtained in a group of samples containing DNA from DS patients having CHD as well, 63 variants were found to be unique to DS group of samples and 73 variants have been identified in patients with CHD only. In order to identify genomic variations determining the risk for CHD in DS, only those variants present in DS-CHD group and absent in isolated CHD and/or isolated DS group were considered for further analysis. Variants specific to DS-CHD group were further evaluated based on expression and function data and pathogenicity of the variant of interest. We have implicated mutations in GATA3, KCNH2, ENG, FLNA, and GUSB genes as an underlying risk factor for CHD in DS patients.

TÍTULO / TITLE:   - Differentially expressed gene (DEG) based protein-protein interaction (PPI) network identifies a spectrum of gene interactome, transcriptome and correlated miRNA in nondisjunction Down syndrome.

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REVISTA / JOURNAL:    - Int J Biol Macromol. 2018 Sep 12. pii: S0141-8130(18)32410-3. doi: 10.1016/j.ijbiomac.2018.09.056.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijbiomac.2018.09.056

AUTORES / AUTHORS: - Sriroopreddy R; CS

INSTITUCIÓN / INSTITUTION: - Department of Biotechnology, School of Biosciences and Technology, Vellore Institute of Technology, Vellore 632014, India. 

RESUMEN / SUMMARY: - Down syndrome, a genetic disorder of known attribution reveals several types of brain abnormalities resulting in mental retardation, inadequacy in speech and memory. In this study, we have presented a consolidative network approach to comprehend the intricacy of the associated genes of Down syndrome. In this analysis, the differentially expressed genes (DEG’s) were identified and the central networks were constructed as upregulated and downregulated. Subsequently, GNB5, CDC42, SPTAN1, GNG2, GNAZ, PRKACB, SST, CD44, FGF2, PHLPP1, APP, and FYN were identified as the candidate hub genes by using topological parameters. Later, Fpclass a PPI tool identified WASP gene, a co-expression interacting partner with highest network topology. Moreover, an enhanced enrichment pathway namely Opioid signaling was obtained using ClueGo, depicting the roles of the hub genes in signaling and neuronal mechanisms. The transcriptional regulatory factors and the common miRNA connected to them were identified by using MatInspector and miRTarbase. Later, a regulatory network constructed showed that PLAG, T2FB, CREB, NEUR, and GATA were the most commonly connected transcriptional factors and hsa-miR-122-5p was the most prominent miRNA. In a nutshell, these hub genes and the enriched pathway could help understand at a molecular level and eventually used as therapeutic targets for Down syndrome.

TÍTULO / TITLE:   - Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis-II nondisjunction at younger age and without any detectable recombination error.

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REVISTA / JOURNAL:    - Am J Med Genet A. 2018 Sep 21. doi: 10.1002/ajmg.a.40511.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.40511

AUTORES / AUTHORS: - Ray A; et al.

INSTITUCIÓN / INSTITUTION: - Cytogenetics & Genomics Research Unit, Department of Zoology, University of Calcutta, Taraknath-Palit-Siksha-Prangan (Ballygunge Science College Campus), Kolkata, West Bengal, India. 

RESUMEN / SUMMARY: - Consanguineous marriage was examined as a risk factor for Down syndrome birth. We genotyped Down syndrome family trios using short tandem repeat markers on 21q-to interpret the parental and meiotic stage of origin of errors as well as to record recombination profile along long arm of chromosome 21. We then compared nonconsanguineous (N = 811) group with-the consanguineous (N =157) marriages. We report for the first time that consanguineous marriage is associated with an increased risk for nondisjunction of chromosome 21 in oocytes-during the second meiotic division. We observed the absence of recombination more frequently in younger mothers in nonconsanguineous meiosis I cases. This was in contrast to an equal distribution of nonrecombinant cases across the age categories in the meiosis I consanguineous group. Moreover, the non-consanguineous group exhibited preferential telomeric recombination in meiosis I error among younger women and centromeric recombination in meiosis II errors in older women. In contrast, the consanguineous group exhibited medially placed recombination events in both meiosis I and meiosis II nondisjunction errors. Additionally, we recorded reduced maternal age at conception in the-consanguineous group. These findings suggest novel risk factors associated that increase the risk of chromosome 21 nondisjunction in the families with consanguinity.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - The role of fetal growth restriction in the association between Down syndrome and perinatal mortality.

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REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2018 Sep 10:1-9. doi: 10.1080/14767058.2018.1511695.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2018.1511695

AUTORES / AUTHORS: - Yao R; et al.

INSTITUCIÓN / INSTITUTION: - a Department of Obstetrics and Gynecology , Loma Linda University School of Medicine , Loma Linda , CA , USA. 

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with significant risk of perinatal mortality. We hypothesize that this association is primarily mediated through the effects of fetal growth restriction (FGR). METHODS: This was a retrospective cohort analysis using the US Natality Database from 2011 to 2013. Analysis was limited to singleton nonanomalous pregnancies or confirmed DS pregnancies without severe structural anomalies between 24 and 42 w in gestation. The risk of stillbirth (SB) associated with DS was estimated using both Cox proportional Hazard (HR) regression and accelerated failure time (AFT) methods. The risk of neonatal mortality was estimated using logistic regression analyses. Mediation analysis was then performed to estimate the effect of small for gestational age (SGA), defined as birthweight

Gynecology - Ginecología

TÍTULO / TITLE:   - Breastfeeding Experiences of Mothers of Children with Down Syndrome.

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REVISTA / JOURNAL:    - Compr Child Adolesc Nurs. 2018 Aug 10:1-15. doi: 10.1080/24694193.2018.1496493

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/24694193.2018.1496493

AUTORES / AUTHORS: - Barros da Silva R; ,,, Van Riper M;

INSTITUCIÓN / INSTITUTION: - School of Nursing, and Carolina Center for Genome Sciences , The University of North Carolina at Chapel Hill , Chapel Hill , North Carolina , USA. 

RESUMEN / SUMMARY: - Children with Down syndrome are less likely to be breastfed than typically developing children, and breastfeeding has a lower duration compared to recommendations of the World Health Organization. The aim of this study was to understand the breastfeeding experiences of mothers of children with Down syndrome, including their perceptions of the breastfeeding process and their specific practices. This is a qualitative study with 10 participants, mothers of children aged between 2 months and 9 years. Snowball sampling was used for participants’ selection, and semi-structured interviews conducted in participants’ households. Three categories emerged: “the breastfeeding experience,” involving the process of breastfeeding, the breast milk, feelings, and difficulties of this practice; “experiences of health care,” encompassing the support received by health professionals, dissatisfaction with health services, lack of support in breastfeeding, and discontent with health professional behavior; and “learning about Down syndrome,” with search for information by parents and advice to health professionals. In this study, we found evidence that breastfeeding success relies very much on mothers’ willingness and support of health professionals, namely, nurses. Findings from this study suggest that support of a multidisciplinary team is essential to the success of breastfeeding. Greater awareness is needed regarding the unique rewards and challenges of breastfeeding these infants, as well as how families cope with the ongoing challenges. Therefore, this research is relevant to understand the experiences of mothers of children with DS about breastfeeding, identifying the inhibiting factors, in order to create more appropriate strategies to intervene and implement practices that contribute to the support and promotion of breastfeeding. Results will also influence the education of health professionals, emphasizing the importance of multidisciplinary teams for a comprehensive care and co

Infectious diseases - Infecciones

TÍTULO / TITLE:   - Hospitalization for Respiratory Syncytial Virus in Children with Down Syndrome Less than 2 Years of Age: A Systematic Review and Meta-Analysis.

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REVISTA / JOURNAL:    - J Pediatr. 2018 Sep 25. pii: S0022-3476(18)31116-8. doi: 10.1016/j.jpeds.2018.08.006.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpeds.2018.08.006

AUTORES / AUTHORS: - Mitra S; et al.

INSTITUCIÓN / INSTITUTION: - Division of Neonatal Perinatal Medicine, Department of Pediatrics, Dalhousie University and IWK Health Center, Halifax, NS, Canada.  

RESUMEN / SUMMARY: - To compare the respiratory syncytial virus (RSV)-related hospitalization rate, hospital length of stay (LOS), and need for assisted ventilation in children aged <2 years with Down syndrome and those without Down syndrome. STUDY DESIGN: MEDLINE, Embase, and CINAHL databases were searched from inception up to December 2017. Studies that provided data on RSV-related hospitalization in children aged <2 years with Down syndrome and those without Down syndrome were included. Data were independently extracted in pairs by 2 reviewers and synthesized with random-effects meta-analysis. RESULTS: In 10 studies including a total of 1 748 209 children, 12.6% of the children with Down syndrome (491 of 3882) were hospitalized with RSV infection. The presence of Down syndrome was associated with a significantly higher risk of RSV-related hospitalization (relative risk [RR], 6.06; 95% CI, 4.93-7.45; I(2) = 65%; Grading of Recommendations, Assessment, Development and Evaluation [GRADE], moderate). RSV-related LOS (mean difference, 2.11 days; 95% CI, 1.47-2.75 days; I(2) = 0%; GRADE, low), and the need for assisted ventilation (RR, 5.82; 95% CI, 1.81-18.69; I(2) = 84%; GRADE, low). Children with Down syndrome without congenital heart disease (RR, 6.31; 95% CI, 4.83-8.23; GRADE, moderate) also had a significantly higher risk of RSV-related hospitalization. The risk of RSV-related hospitalization remained significant in the subgroup of children aged <1 year (RR, 6.25; 95% CI, 4.71-8.28; GRADE, high). CONCLUSION: RSV-related hospitalization, hospital LOS, and the need for assisted ventilation are significantly higher in children with Down syndrome aged <2 years compared with those without Down syndrome. The results should prompt reconsideration of the need for routine RSV prophylaxis in children with Down syndrome up to 2 years of age.

TÍTULO / TITLE:   - Down Syndrome and the Risk of Severe RSV Infection: A Meta-analysis.

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REVISTA / JOURNAL:    - Pediatrics. 2018 Sep;142(3). pii: peds.2018-0225. doi: 10.1542/peds.2018-0225. Epub 2018 Aug 9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1542/peds.2018-0225

AUTORES / AUTHORS: - Beckhaus AA; Castro-Rodriguez JA;

INSTITUCIÓN / INSTITUTION: - Division of Pediatrics, Department of Pediatric Pulmonology and Cardiology, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common chromosomal condition in live-born infants worldwide, and lower respiratory infection caused by respiratory syncytial virus (RSV) is a leading cause of hospital admissions. OBJECTIVE: To evaluate RSV-associated morbidity among children with DS compared with a population without DS. DATA SOURCES: Four electronic databases were searched. STUDY SELECTION: All cohorts or case-control studies of DS with an assessment of RSV infection and the associated morbidity or mortality were included without language restriction. DATA EXTRACTION: Two reviewers independently reviewed all studies. The primary outcomes were hospital admission and mortality. Secondary outcomes included length of hospital stay, oxygen requirement, ICU admission, need for respiratory support, and additional medication use. RESULTS: Twelve studies (n = 1 149 171) from 10 different countries met the inclusion criteria; 10 studies were cohort studies, 1 study was retrospective, and 1 study had both designs. DS was associated with a higher risk of hospitalization (odds ratio [OR]: 8.69; 95% confidence interval [CI]: 7.33-10.30; I(2) = 11%) and mortality (OR: 9.4; 95% CI: 2.26-39.15; I(2) = 38%) compared with what was seen in controls. Children with DS had an increased length of hospital stay (mean difference: 4.73 days; 95% CI: 2.12-7.33; I(2) = 0%), oxygen requirement (OR: 6.53; 95% CI: 2.22-19.19; I(2) = 0%), ICU admission (OR: 2.56; 95% CI: 1.17-5.59; I(2) = 0%), need for mechanical ventilation (OR: 2.56; 95% CI: 1.17-5.59; I(2) = 0%), and additional medication use (OR: 2.65 [95% CI: 1.38-5.08; I(2) = 0%] for systemic corticosteroids and OR: 5.82 [95% CI: 2.66-12.69; I(2) = 0%] for antibiotics) than controls. LIMITATIONS: DS subgroups with and without other additional risk factors were not reported in all of the included studies. CONCLUSIONS: Children with DS had a significantly higher risk of severe RSV infection than children without DS.

TÍTULO / TITLE:   - Do children with Down syndrome benefit from extra vaccinations?

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REVISTA / JOURNAL:    - Arch Dis Child. 2018 Aug 17. pii: archdischild-2018-315541. doi: 10.1136/archdischild-2018-315541.

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/archdischild-2018-315541

AUTORES / AUTHORS: - Huggard D; Molloy EJ

INSTITUCIÓN / INSTITUTION: - Discipline of Paediatrics, University of Dublin, Trinity College, Dublin, Ireland. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Interleukin 6 and 10 Serum Levels and Genetic Polymorphisms in Children with Down Syndrome.

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REVISTA / JOURNAL:    - Mediators Inflamm. 2018 Aug 16;2018:6539548. doi: 10.1155/2018/6539548. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2018/6539548

AUTORES / AUTHORS: - Mattos MF; et al.

INSTITUCIÓN / INSTITUTION: - Unidade de Pesquisa em Genetica e Biologia Molecular, Faculdade de Medicina de Sao Jose do Rio Preto, Sao Jose do Rio Preto, SP, Brazil. 

RESUMEN / SUMMARY: - Immunological impairment is a condition that is often observed in individuals with Down syndrome (DS). The immune response is modulated by pro- and anti-inflammatory cytokines whose expressions could be influenced by genetic polymorphisms. The present study was aimed at evaluating the frequencies of -174G>C, -572G>C, and -597G>A polymorphisms in the interleukin 6 (IL-6) gene and -592C>A, -1082A>G, and -819C>T polymorphisms in the IL-10 gene and the IL-6 and IL-10 serum levels in healthy individuals with and without DS. The authors also aimed to investigate the impact of the genotypes on the interleukin concentrations. The genetic polymorphisms were investigated in 200 DS individuals and 200 controls without DS. The serum measurement of IL-6 and IL-10 was performed in a subgroup (54 cases and 54 controls) by enzyme-linked immunosorbent assay (ELISA). The frequencies of the polymorphisms and haplotypes evaluated were not different between individuals with and without DS. IL-10 concentration was higher in DS children but was not influenced by IL-10 gene polymorphisms. IL-6 genotypes had no influence on IL-6 serum levels. The IL-10 serum levels are increased in DS individuals, but IL-10 polymorphisms are not the main factors that influence the IL-10 expression in DS.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - Differentially expressed gene (DEG) based protein-protein interaction (PPI) network identifies a spectrum of gene interactome, transcriptome and correlated miRNA in nondisjunction Down syndrome.

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REVISTA / JOURNAL:    - Int J Biol Macromol. 2018 Sep 12. pii: S0141-8130(18)32410-3. doi: 10.1016/j.ijbiomac.2018.09.056.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijbiomac.2018.09.056

AUTORES / AUTHORS: - Sriroopreddy R; CS

INSTITUCIÓN / INSTITUTION: - Department of Biotechnology, School of Biosciences and Technology, Vellore Institute of Technology, Vellore 632014, India.  

RESUMEN / SUMMARY: - Down syndrome, a genetic disorder of known attribution reveals several types of brain abnormalities resulting in mental retardation, inadequacy in speech and memory. In this study, we have presented a consolidative network approach to comprehend the intricacy of the associated genes of Down syndrome. In this analysis, the differentially expressed genes (DEG’s) were identified and the central networks were constructed as upregulated and downregulated. Subsequently, GNB5, CDC42, SPTAN1, GNG2, GNAZ, PRKACB, SST, CD44, FGF2, PHLPP1, APP, and FYN were identified as the candidate hub genes by using topological parameters. Later, Fpclass a PPI tool identified WASP gene, a co-expression interacting partner with highest network topology. Moreover, an enhanced enrichment pathway namely Opioid signaling was obtained using ClueGo, depicting the roles of the hub genes in signaling and neuronal mechanisms. The transcriptional regulatory factors and the common miRNA connected to them were identified by using MatInspector and miRTarbase. Later, a regulatory network constructed showed that PLAG, T2FB, CREB, NEUR, and GATA were the most commonly connected transcriptional factors and hsa-miR-122-5p was the most prominent miRNA. In a nutshell, these hub genes and the enriched pathway could help understand at a molecular level and eventually used as therapeutic targets for Down syndrome.

TÍTULO / TITLE:   - Trisomy 21 Represses Cilia Formation and Function.

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REVISTA / JOURNAL:    - Dev Cell. 2018 Sep 10;46(5):641-650.e6. doi: 10.1016/j.devcel.2018.07.008. Epub 2018 Aug 9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.devcel.2018.07.008

AUTORES / AUTHORS: - Galati DF; et al

INSTITUCIÓN / INSTITUTION: - Department of Cell and Developmental Biology, University of Colorado-Anschutz Medical Campus, Aurora, CO 80045, USA; Linda Crnic Institute for Down Syndrome, University of Colorado-Anschutz Medical Campus, Aurora, CO 80045, USA.  

RESUMEN / SUMMARY: - Trisomy 21 (T21) is the most prevalent human chromosomal disorder, causing a range of cardiovascular, musculoskeletal, and neurological abnormalities. However, the cellular processes disrupted by T21 are poorly understood. Consistent with the clinical overlap between T21 and ciliopathies, we discovered that T21 disrupts cilia formation and signaling. Cilia defects arise from increased expression of Pericentrin, a centrosome scaffold and trafficking protein encoded on chromosome 21. Elevated Pericentrin is necessary and sufficient for T21 cilia defects. Pericentrin accumulates at centrosomes and dramatically in the cytoplasm surrounding centrosomes. Centrosome Pericentrin recruits more gamma-tubulin and enhances microtubules, whereas cytoplasmic Pericentrin assembles into large foci that do not efficiently traffic. Moreover, the Pericentrin-associated cilia assembly factor IFT20 and the ciliary signaling molecule Smoothened do not efficiently traffic to centrosomes and cilia. Thus, increased centrosome protein dosage produces ciliopathy-like outcomes in T21 cells by decreasing trafficking between the cytoplasm, centrosomes, and cilia.

TÍTULO / TITLE:   - Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets.

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REVISTA / JOURNAL:    - Mol Med. 2018 Mar 15;24(1):2. doi: 10.1186/s10020-018-0004-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s10020-018-0004-y

AUTORES / AUTHORS: - Izzo A; et al

INSTITUCIÓN / INSTITUTION: - Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via Pansini 5, 80131, Naples, Italy. 

RESUMEN / SUMMARY: - Trisomy of chromosome 21 (TS21) is the most common autosomal aneuploidy compatible with postnatal survival with a prevalence of 1 in 700 newborns. Its phenotype is highly complex with constant features, such as mental retardation, dysmorphic traits and hypotonia, and variable features including heart defects, susceptibility to Alzheimer’s disease (AD), type 2 diabetes, obesity and immune disorders. Overexpression of genes on chromosome-21 (Hsa21) is responsible for the pathogenesis of Down syndrome (DS) phenotypic features either in a direct or in an indirect manner since many Hsa21 genes can affect the expression of other genes mapping to different chromosomes. Many of these genes are involved in mitochondrial function and energy conversion, and play a central role in the mitochondrial dysfunction and chronic oxidative stress, consistently observed in DS subjects.Recent studies highlight the deep interconnections between mitochondrial dysfunction and DS phenotype. In this short review we first provide a basic overview of mitochondrial phenotype in DS cells and tissues. We then discuss how specific Hsa21 genes may be involved in determining the disruption of mitochondrial DS phenotype and biogenesis. Finally we briefly focus on drugs that affect mitochondrial function and mitochondrial network suggesting possible therapeutic approaches to improve and/or prevent some aspects of the DS phenotype.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - Cystatin C prevents neuronal loss and behavioral deficits via the endosomal pathway in a mouse model of down syndrome.

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REVISTA / JOURNAL:    - Neurobiol Dis. 2018 Sep 1;120:165-173. doi: 10.1016/j.nbd.2018.08.025.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.nbd.2018.08.025

AUTORES / AUTHORS: - Kaur G; ... Levy E;

INSTITUCIÓN / INSTITUTION: - Nathan S. Kline Institute, Orangeburg, NY, USA 10962; Department of Psychiatry, NYU Langone School of Medicine, New York, NY, USA 10016; Department of Biochemistry and Molecular Pharmacology, NYU Langone School of Medicine, New York, NY, US 

RESUMEN / SUMMARY: - Cystatin C (CysC) plays diverse protective roles under conditions of neuronal challenge. We investigated whether CysC protects from trisomy-induced pathologies in a mouse model of Down syndrome (DS), the most common cause of developmental cognitive and behavioral impairments in humans. We have previously shown that the segmental trisomy mouse model, Ts[Rb(12.1716)]2Cje (Ts2) has DS-like neuronal and behavioral deficiencies. The current study reveals that transgene-mediated low levels of human CysC overexpression has a preventive effect on numerous neuropathologies in the brains of Ts2 mice, including reducing early and late endosome enlargement in cortical neurons and decreasing loss of basal forebrain cholinergic neurons (BFCNs). Consistent with these cellular benefits, behavioral dysfunctions were also prevented, including deficits in nesting behavior and spatial memory. We determined that the CysC-induced neuroprotective mechanism involves activation of the phosphotidylinositol kinase (PI3K)/AKT pathway. Activating this pathway leads to enhanced clearance of accumulated endosomal substrates, protecting cells from DS-mediated dysfunctions in the endosomal system and, for BFCNs, from neurodegeneration. Our findings suggest that modulation of the PI3/AKT pathway offers novel therapeutic interventions for patients with DS.

TÍTULO / TITLE:   - Altered development of dopaminergic neurons differentiated from stem cells from human exfoliated deciduous teeth of a patient with Down syndrome.

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REVISTA / JOURNAL:    - BMC Neurol. 2018 Aug 31;18(1):132. doi: 10.1186/s12883-018-1140-2.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12883-018-1140-2

AUTORES / AUTHORS: - Pham TTM; et al.

INSTITUCIÓN / INSTITUTION: - Section of Oral Medicine for Child, Division of Oral Health, Growth & Development, Faculty of Dental Science, Kyushu University, Maidashi 3-1-1, Higashi-Ku, Fukuoka, 812-8582, Japan. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a common developmental disorder resulting from the presence of an additional copy of chromosome 21. Abnormalities in dopamine signaling are suggested to be involved in cognitive dysfunction, one of the symptoms of DS, but the pathophysiological mechanism has not been fully elucidated at the cellular level. Stem cells from human exfoliated deciduous teeth (SHED) can be prepared from the dental pulp of primary teeth. Importantly, SHED can be collected noninvasively, have multipotency, and differentiate into dopaminergic neurons (DN). Therefore, we examined dopamine signaling in DS at the cellular level by isolating SHED from a patient with DS, differentiating the cells into DN, and examining development and function of DN. METHODS: Here, SHED were prepared from a normal participant (Ctrl-SHED) and a patient with DS (DS-SHED). Initial experiments were performed to confirm the morphological, chromosomal, and stem cell characteristics of both SHED populations. Next, Ctrl-SHED and DS-SHED were differentiated into DN and morphological analysis of DN was examined by immunostaining. Functional analysis of DN was performed by measuring extracellular dopamine levels under basal and glutamate-stimulated conditions. In addition, expression of molecules involved in dopamine homeostasis was examined by quantitative real-time polymerase chain reaction and immunostaining. Statistical analysis was performed using two-tailed Student�s t-tests. RESULTS: Compared with Ctrl-SHED, DS-SHED showed decreased expression of nestin, a neural stem-cell marker. Further, DS-SHED differentiated into DN (DS-DN) exhibiting decreased neurite outgrowth and branching compared with Ctrl-DN. In addition, DS-DN dopamine secretion was lower than Ctrl-DN dopamine secretion. Moreover, aberrant expression of molecules involved in dopaminergic homeostasis was observed in DS-DN. CONCLUSIONS: Our results suggest that there was developmental abnormality and DN malfunction in the DS-SHED don

TÍTULO / TITLE:   - Correction of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A.

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REVISTA / JOURNAL:    - Dis Model Mech. 2018 Aug 16. pii: dmm.035634. doi: 10.1242/dmm.035634.

Enlace a la Editora de la Revista http://dx.doi.org/10.1242/dmm.035634

AUTORES / AUTHORS: - Nguyen TL; ... Herault Y

INSTITUCIÓN / INSTITUTION: - Institut de Genetique et de Biologie Moleculaire et Cellulaire, Department of Translational Medicine and Neurogenetics, Illkirch, France.;  

RESUMEN / SUMMARY: - Growing evidence support the implication of DYRK1A in the development of cognitive deficits seen in Down syndrome (DS) and Alzheimer’s disease (AD). We here demonstrate that pharmacological inhibition of brain DYRK1A is able to correct recognition memory deficits in three DS mouse models with increasing genetic complexity (Tg(Dyrk1a), Ts65Dn, Dp1Yey), all expressing an extra copy of Dyrk1a Overexpressed DYRK1A accumulates in the cytoplasm and at the synapse. Treatment of the three DS models with the pharmacological DYRK1A inhibitor Leucettine L41 leads to normalization of DYRK1A activity and corrects the novel object cognitive impairment observed in these models. Brain functional magnetic resonance imaging reveals that this cognitive improvement is paralleled by functional connectivity remodeling of core brain areas involved in learning/memory processes. The impact of Dyrk1a trisomy and L41 treatment on brain phosphoproteins was investigated by a phosphoproteomics approach, revealing the implication of synaptic (synapsin I) and cytoskeletal components involved in synaptic response and axonal organization. These results encourage the development of DYRK1A inhibitors as drug candidates to treat cognitive deficits associated with DS and AD.

TÍTULO / TITLE:   - Triple play of DYRK1A kinase in cortical progenitor cells of Trisomy 21.

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REVISTA / JOURNAL:    - Neurosci Res. 2018 Sep 15. pii: S0168-0102(18)30506-6. doi: 10.1016/j.neures.2018.09.007.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neures.2018.09.007

AUTORES / AUTHORS: - Kurabayashi N; ... Sanada K;

INSTITUCIÓN / INSTITUTION: - Molecular Genetics Research Laboratory, Graduate School of Science, The University of Tokyo, Hongo 7-3-1, Bunkyo-ku, Tokyo 113-0033, Japan.  

RESUMEN / SUMMARY: - Down syndrome (DS) also known as Trisomy 21 is a genetic disorder that occurs in approximately 1 in 800 live births. The disorder is caused by the triplication of all or part of human chromosome 21 and therefore, is thought to arise from the increased dosage of genes found within chromosome 21. The manifestations of the disease include among others physical growth delays and intellectual disability. A prominent anatomical feature of DS is the microcephaly that results from altered brain development. Recent studies using mouse models of DS have shed new light on DYRK1A (dual-specificity tyrosine-phosphorylation-regulated kinase 1A), a gene located on human chromosome 21 that plays a critical role in neocortical development. The present review summarizes effects of the increased dosage of DYRK1A on the proliferative, neurogenic and astrogliogenic potentials of cortical neural progenitor cells, and relates these findings to the clinical manifestations of the disease.

TÍTULO / TITLE:   - Phosphoproteomic Alterations of Ionotropic Glutamate Receptors in the Hippocampus of the Ts65Dn Mouse Model of Down Syndrome.

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REVISTA / JOURNAL:    - Front Mol Neurosci. 2018 Jul 25;11:226. doi: 10.3389/fnmol.2018.00226. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fnmol.2018.00226

AUTORES / AUTHORS: - Gomez de Salazar M; Ciruela F;Altafaj X;

INSTITUCIÓN / INSTITUTION: - Neuropharmacology Unit, Bellvitge Biomedical Research Institute (IDIBELL)-University of Barcelona, Barcelona, España. 

RESUMEN / SUMMARY: - Down syndrome (DS), the main genetic cause of intellectual disability, is associated with an imbalance of excitatory/inhibitory neurotransmitter systems. The phenotypic assessment and pharmacotherapy interventions in DS murine models strongly pointed out glutamatergic neurotransmission alterations (specially affecting ionotropic glutamate receptors [iGluRs]) that might contribute to DS pathophysiology, which is in agreement with DS condition. iGluRs play a critical role in fast-mediated excitatory transmission, a process underlying synaptic plasticity. Neuronal plasticity is biochemically modulated by post-translational modifications, allowing rapid and reversible adaptation of synaptic strength. Among these modifications, phosphorylation/dephosphorylation processes strongly dictate iGluR protein-protein interactions, cell surface trafficking, and subsynaptic mobility. Hence, we hypothesized that dysregulation of phosphorylation/dephosphorylation balance might affect neuronal function, which in turn could contribute to the glutamatergic neurotransmitter alterations observed in DS. To address this point, we biochemically purified subsynaptic hippocampal fractions from adult Ts65Dn mice, a trisomic mouse model recapitulating DS phenotypic alterations. Proteomic analysis showed significant alterations of the molecular composition of subsynaptic compartments of hippocampal trisomic neurons. Further, we characterized iGluR phosphopattern in the hippocampal glutamatergic synapse of trisomic mice. Phosphoenrichment-coupled mass spectrometry analysis revealed specific subsynaptic- and trisomy-associated iGluR phosphorylation signature, concomitant with differential subsynaptic kinase and phosphatase composition of Ts65Dn hippocampal subsynaptic compartments. Furthermore, biochemical data were used to build up a genotype-kinome-iGluR phosphopattern matrix in the different subsynaptic compartments. Overall, our results provide a precise profile of iGluR phosphopattern alterat

TÍTULO / TITLE:   - Down Syndrome with Moyamoya Disease: A Case Series.

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REVISTA / JOURNAL:    - J Pediatr Neurosci. 2018 Apr-Jun;13(2):201-204. doi: 10.4103/jpn.JPN_116_17.

Enlace a la Editora de la Revista http://dx.doi.org/10.4103/jpn.JPN_116_17

AUTORES / AUTHORS: - Kumar P; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. 

RESUMEN / SUMMARY: - Down syndrome (DS), resulting from trisomy 21, is a common cause of mental retardation. Around 20,000 babies with DS are born every year in India. There is an increased risk of cerebral infarction in children with DS, the common causes being thromboembolism secondary to atrioventricular canal defects, right-to-left shunting, myocardial dysmotility, or cardiac valvular abnormalities. Stroke due to other causes can also occur in patients with DS, and one of these is moyamoya disease. This can be diagnosed by magnetic resonance imaging and/or angiography in these patients. Here we report four cases of moyamoya disease in young patients with DS aged 2-3(1/2) years, of a total of 500 cases with DS registered in the Genetic Clinic.

Neurology - Neurología

TÍTULO / TITLE:   - Blood Pressure Elevation and Risk of Moyamoya Syndrome in Patients With Trisomy 21.

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REVISTA / JOURNAL:    - Pediatrics. 2018 Sep 6. pii: peds.2018-0840. doi: 10.1542/peds.2018-0840.

Enlace a la Editora de la Revista http://dx.doi.org/10.1542/peds.2018-0840

AUTORES / AUTHORS: - Santoro JD;

INSTITUCIÓN / INSTITUTION: - Division of Child Neurology, Department of Neurology 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are at risk for the development of moyamoya syndrome (MMS); MMS is often recognized only after a resulting stroke has occurred. Our goal with this study was to determine if elevations in blood pressure (BP) precede acute presentation of MMS in individuals with DS. METHODS: A single-center, retrospective case-control study was performed. Thirty patients with MMS and DS and 116 patients with DS only were identified retrospectively. Three BP recordings were evaluated at set intervals (18-24 months, 12-18 months, and 6-12 months before diagnosis of MMS). These were then compared against control averages from patients with DS only. To assess changes over the time, we used general linear model repeated measures analysis of variance. To identify independent predictors of MMS and DS, we used a multivariable analysis using generalized estimating equations accounting for repeated measures of BP. RESULTS: BP in patients with MMS and DS rose significantly over the 24-month period preceding presentation (34th, 42nd, and 70th percentiles at the 18-24-month, 12-18-month, and 6-12-month periods, respectively). BPs in the patients with both MMS and DS were significantly higher than in the DS-only controls in the 6 to 12 (P < .001) and 12 to 18 months before presentation (P = .016). Higher Suzuki scores, bilateral disease, and posterior circulation involvement were also predictive of BP elevation before presentation. CONCLUSIONS: Elevations in BP may foreshadow presentation of MMS in individuals with DS. This simple, low-cost screening measure may lead to early identification of at-risk patients in the medical home and prevent irreversible neurologic injury.

TÍTULO / TITLE:   - Cervical instability in patients with Trisomy 21: The eternal gamble.

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REVISTA / JOURNAL:    - Paediatr Anaesth. 2018 Sep 12. doi: 10.1111/pan.13481.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/pan.13481

AUTORES / AUTHORS: - Bertolizio G; et al.

INSTITUCIÓN / INSTITUTION: - Department of Anesthesia, Montreal Children’s Hospital, McGill University, Montreal, Quebec, Canada. 

RESUMEN / SUMMARY: - Patients with Trisomy 21 are particularly at risk of cervical instability due to ligamentous laxity and osseous abnormalities. Up to 30% of Trisomy 21 patients are affected by atlanto-axial or atlanto-occipital instability, but only 1%-2% of cases are symptomatic. The radiologic assessment of cervical instability is not unanimously considered mandatory. The dynamic cervical spine radiograph is the most common screening tool for ruling out cervical spine instability in patients with Trisomy 21, and it is often requested before surgery. Several measurements have been investigated to assess the presence and degree of cervical instability; however, no conclusive recommendations have been forthcoming. In daily practice, many anesthesiologists may provide anesthesia via such means as laryngoscopy and tracheal intubation during surgery, without any radiological investigations before surgery. This review focuses on the diagnostic and prognostic measures available to evaluate the presence and degree of cervical instability in patients with Trisomy 21 and to propose practical recommendations to be applied in clinical practice.

TÍTULO / TITLE:   - Iatrogenic neurological injury in children with trisomy 21.

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REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol. 2018 Nov;114:36-43. doi: 10.1016/j.ijporl.2018.08.029. Epub 2018 Aug

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijporl.2018.08.029

AUTORES / AUTHORS: - Husnudinov RE; et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology, Hospital for Sick Children, Toronto, ON, Canada; Department of Otolaryngology, Head and Neck Surgery, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. 

RESUMEN / SUMMARY: - Children with trisomy 21 are at a greater risk for craniocervical junction instability than the general population. These children frequently require administration of anesthesia due to surgical (including otolaryngological) interventions and are at risk for neurological injury. We reviewed the current literature describing iatrogenic neurological injury in children with trisomy 21 undergoing anesthesia in order to facilitate the development of safety recommendations. METHODS: A systematic review of the literature was performed using Medline, Embase, Scopus, and Google Scholar, following the PRISMA statement. All cases of perioperative neurological injury in children with trisomy 21, aged 18 and under were identified. Clinical and radiographic data were extracted for each report. The data were synthesized to develop recommendations regarding perioperative management. RESULTS: Of 348 articles screened, 16 cases of iatrogenic neurological injury (in children ages 0.7-18 years) were identified. Three injuries occurred during otolaryngological surgeries, nine during sedation for intubation for non-otolaryngological surgery, one during sedation for neuroimaging, one while restraining a child, and two were due to intraoperative head and neck positioning while anesthetized. Preoperative screening was reported in four cases. A diagnosis of atlantoaxial instability (AAI) or atlantooccipital instability (AOI) was made immediately following symptom presentation in three cases but was often delayed by a median (IQR) of 30(11.5-912.5) days. No cases resolved spontaneously, with 2 patients progressing to brain death and 12 requiring surgical stabilization. Of the latter, seven showed improvement, whereas one died 5 months later. No intraoperative precautions during the index procedure were reported in any of the 16 cases. CONCLUSION: Iatrogenic neurological injury in children with trisomy 21 are rare but severe and likely under reported. Although the role of preoperative screenin

Ophtalmology - Oftalmología

TÍTULO / TITLE:   - Ocular findings in Japanese children with Down syndrome: the course of visual acuity and refraction, and systemic and ocular anomalies.

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REVISTA / JOURNAL:    - Clin Ophthalmol. 2018 Aug 31;12:1637-1643. doi: 10.2147/OPTH.S169107. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.2147/OPTH.S169107

AUTORES / AUTHORS: - Terai T; et al.

INSTITUCIÓN / INSTITUTION: - Department of Ophthalmology, Shiga Medical Center for Children, Moriyama-City, Shiga, Japan. 

RESUMEN / SUMMARY: - To investigate the age-related development of refractive errors and changes of visual acuity (VA), and the systemic and ocular anomalies in Japanese children and young adults with Down syndrome (DS). Design: Retrospective cohort study. Subjects and methods: This study involved 222 Japanese children and young adults with DS (age range: 3 months to 19 years) seen at the Department of Ophthalmology, Shiga Medical Center for Children, Shiga, Japan. The subjects were divided into the following six age groups: 1) infant (age 0 to <4 years), 2) preschool (age 4 to <7 years), 3) lower primary-school grades (age 7 to <10 years), 4) upper primary-school grades (age 10 to <13 years), 5) junior high school (age 13 to <16 years), and 6) late teen/young adults (age 16 to <20 years). Through examination of the subjects’ medical charts, we investigated the development and changes of refractive errors and VA, best-corrected VA (BCVA), and systemic and ocular anomalies. Results: For vision testing, Teller Acuity Cards (Bernell Corporation) were used for the infants, and the Landolt ring was used for the school-age children. VA was found to develop with age. Mean BCVA was 0.19+/-0.17 logarithm of the minimum angle of resolution (mean age: 11.3+/-3.2 years). Mean of refractive errors was hyperopia in the infant (2.2+/-2.4 diopters [D] OD, 2.4+/-2.5D OS), yet became myopia to the junior high school (-0.3+/-4.4D OD, -0.2+/-4.4D OS). Conclusion: Our findings revealed that in children and in late-teen and young-adult subjects with DS, VA slowly develops and that refractive errors requiring correction exist and are difficult to examine.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - Sport Preparticipation Screening for Asymptomatic Atlantoaxial Instability in Patients With Down Syndrome

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REVISTA / JOURNAL:    - Clin J Sport Med. 2018 Aug 15. doi: 10.1097/JSM.0000000000000642.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/JSM.0000000000000642

AUTORES / AUTHORS: - Tomlinson C; et al.

INSTITUCIÓN / INSTITUTION: - Sport and Exercise Medicine, English Institute of Sport, British Gymnastics, Wolverhampton Wanderers FC, Robert Jons and Agnes Hunt Orthopaedic Hospital, United Kingdom. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a clinical syndrome comprising typical facial features and various physical and intellectual disabilities due to extra genetic material on chromosome 21, with one in every 1000 babies born in the United Kingdom affected. Patients with Down syndrome are at risk of atlantoaxial instability (AAI). Although AAI can occur in other conditions, such as rheumatoid arthritis, this position statement deals specifically with patients with DS and asymptomatic AAI. Atlantoaxial instability, also referred to as atlantoaxial subluxation, is defined as increased movement between the first (atlas) and second (axial) cervical vertebra joint articulation, the atlantoaxial joint. Atlantoaxial instability is reported to occur in 6.8% to 27% of the DS population, although this varies depending on the age of the patients whom you are screening. Less than 1% to 2% of these patients are then thought to later develop symptomatic AAI, although the natural history and progression of AAI is not well understood. The risks associated with AAI are neurological injury from excessive movement of the cervical vertebra impinging on and then damaging the spinal cord, although the risk of this during sporting activities is extremely rare. Clearly, physical activity and sports participation for patients with DS has many biological, psychological, and social benefits, and the Faculty of Sport and Exercise Medicine (FSEM), United Kingdom, wishes to promote safe physical activity and sport for all. The FSEM, United Kingdom, has therefore produced a statement regarding sport preparticipation screening for asymptomatic AAI in patients with DS.

TÍTULO / TITLE:   - Cervical instability in patients with Trisomy 21: The eternal gamble.

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REVISTA / JOURNAL:    - Paediatr Anaesth. 2018 Sep 12. doi: 10.1111/pan.13481.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/pan.13481

AUTORES / AUTHORS: - Bertolizio G; et al.

INSTITUCIÓN / INSTITUTION: - Department of Anesthesia, Montreal Children’s Hospital, McGill University, Montreal, Quebec, Canada. 

RESUMEN / SUMMARY: - Patients with Trisomy 21 are particularly at risk of cervical instability due to ligamentous laxity and osseous abnormalities. Up to 30% of Trisomy 21 patients are affected by atlanto-axial or atlanto-occipital instability, but only 1%-2% of cases are symptomatic. The radiologic assessment of cervical instability is not unanimously considered mandatory. The dynamic cervical spine radiograph is the most common screening tool for ruling out cervical spine instability in patients with Trisomy 21, and it is often requested before surgery. Several measurements have been investigated to assess the presence and degree of cervical instability; however, no conclusive recommendations have been forthcoming. In daily practice, many anesthesiologists may provide anesthesia via such means as laryngoscopy and tracheal intubation during surgery, without any radiological investigations before surgery. This review focuses on the diagnostic and prognostic measures available to evaluate the presence and degree of cervical instability in patients with Trisomy 21 and to propose practical recommendations to be applied in clinical practice.

TÍTULO / TITLE:   - Combining acetabular and femoral morphology improves our understanding of the down syndrome hip.

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REVISTA / JOURNAL:    - Clin Biomech (Bristol, Avon). 2018 Oct;58:96-102. doi: 10.1016/j.clinbiomech.2018.07.016. Epub 2018

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.clinbiomech.2018.07.016

AUTORES / AUTHORS: - Bakouny Z; ... Assi A;

INSTITUCIÓN / INSTITUTION: - Laboratory of Biomechanics and Medical Imaging, Faculty of Medicine, University of Saint-Joseph, Beirut, Lebanon; Institut de Biomecanique Humaine Georges Charpak, Arts et Metiers ParisTech, Paris, France. 

RESUMEN / SUMMARY: - Hip instability is frequent in patients with Down syndrome. Recent studies have suggested that skeletal hip alterations are responsible for this instability; however, there are currently no studies simultaneously assessing femoral and acetabular anatomy in subjects with Down syndrome in the standing position. The aim was to analyze the three-dimensional anatomy of the Down syndrome hip in standing position. METHODS: Down syndrome subjects were age and sex-matched to asymptomatic controls. All subjects underwent full body biplanar X-rays with three-dimensional reconstructions of their pelvises and lower limbs. Parameter means and distributions were compared between the two groups. FINDINGS: Forty-one Down syndrome and 41 control subjects were recruited. Acetabular abduction (mean=52 degrees [SD=9 degrees ] vs. mean=56 degrees [SD=8 degrees ]) and anteversion (mean=14 degrees [SD=8 degrees ] vs. mean=17.5 degrees [SD=5 degrees ]) as well as posterior acetabular sector angle (mean=91 degrees [SD=7 degrees ] vs. mean=94 degrees [SD=7 degrees ]) were significantly lower in Down syndrome subjects compared to controls (P<0.01). Anterior acetabular sector angle (mean=62 degrees [SD=10 degrees ] vs. mean=59 degrees [SD=7 degrees ]; P<0.01) was significantly higher in Down syndrome compared to controls. The distributions of acetabular anteversion (P=0.002;V=0.325), femoral anteversion (P=0.004;V=0.309) and the instability index (P<0.001;V=0.383) were significantly different between the two groups, with subjects with Down syndrome having both increased anteversion and retroversion for each of these parameters. INTERPRETATION: Subjects with Down syndrome were found to have a significantly altered and more heterogeneous anatomy of their proximal hips compared to controls. This heterogeneity suggests that treatment strategies of hip instability in Down syndrome should be subject-specific and should rely on the understanding of the underlying three-dimensional anatomy of each pati

TÍTULO / TITLE:   - Relationship between the use of lower extremity orthoses and the developmental quotient of The Kyoto Scale of Psychological Development in children with Down syndrome.

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REVISTA / JOURNAL:    - J Phys Ther Sci. 2018 Aug;30(8):1019-1023. doi: 10.1589/jpts.30.1019. Epub 2018 Jul 24.

Enlace a la Editora de la Revista http://dx.doi.org/10.1589/jpts.30.1019

AUTORES / AUTHORS: - Kanai Y; et al.

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, Ibaraki Prefectural University of Health Sciences: 4669-2 Ami-machi Ami, Inashiki-gun, Ibaraki 300-0394 Japan. 

RESUMEN / SUMMARY: - The Kyoto Scale of Psychological Development is an evaluation scale developed in the field of psychology. The initial aim of this study was to determine whether the quotient of the Postural-Motor area in the scale was correlated with the use of orthosis in patients with Down syndrome. The second aim was to examine a correlation among Postural-Motor, Cognitive-Adaptive, and Language-Social areas in the participants. [Participants and Methods] Patients with Down syndrome who had received a developmental examination, the Kyoto Scale of Psychological Development, were retrospectively investigated. The sample included 78 participants. Data on the participants’ calendar ages ranged from 4.1 to 6.0 years, and the mean age was 4.9 at the examination. The investigated parameters were the number of participants who used an orthosis or insole and the mean developmental quotient for the Postural-Motor, Cognitive-Adaptive, and Language-Social areas. [Results] Twenty participants who completed the exam used an orthosis, and 18 of these had an insole as a first orthosis. The mean Postural-Motor quotient was significantly lower in participants who used an orthosis than in those who did not (52.3 +/- 14.7). [Conclusion] The mean quotient of the Postural-Motor area was significantly lower in patients with Down syndrome who were prescribed some kind of orthosis than in those who were not. There was a significant correlation among the quotients of the three areas. The use of orthosis was expected to positively influence the Cognitive-Adaptive and Language-Social areas through the future in people with Down syndrome who have some difficulty with posture and movement.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - Effect of a 1-week intense myofunctional training on obstructive sleep apnoea in children with Down syndrome.

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REVISTA / JOURNAL:    - Arch Dis Child. 2018 Aug 2. pii: archdischild-2018-315064. doi: 10.1136/archdischild-2018-315064.

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/archdischild-2018-315064

AUTORES / AUTHORS: - von Lukowicz M; et al.

INSTITUCIÓN / INSTITUTION: - Sleep Medicine, Department of Neonatology, University of Tuebingen, Tuebingen, Germany. 

RESUMEN / SUMMARY: - Obstructive sleep apnoea (OSA) is common in children with Down syndrome (DS), yet difficult to treat. As muscular hypotonia of the upper airway may cause OSA and is also common in DS, we tested whether intense myofunctional therapy improves OSA in children with DS. PATIENTS AND METHODS: Forty-two children underwent cardiorespiratory sleep studies immediately before and after a 1-week intensive training camp consisting of three daily 45 min sessions of myofunctional exercises according to Padovan. Primary outcome was the mixed-obstructive-apnoea/hypopnoea index (MOAHI), secondary outcomes the /=3 hours of artefact-free recording in both the pretreatment and post-treatment sleep study and were therefore included in the analysis. Mean age was 6.3 years (SD 2.5); 83% had OSA prior to intervention. Mean MOAHI was 6.4 (SD 8.6) before and 6.4 (SD 10.8) after the intervention (p>0.05); the DI3 and SpO2nadir also did not change. Only the DI90 decreased significantly from 2.7 (SD 4.5) to 2.1 (SD 3.7) (p<0.05). CONCLUSION: The 1-week intense myofunctional training camp evaluated here in children with DS had only a marginal effect on OSA. Whether a longer follow-up period or duration of intervention would yield stronger effects remains to be determined.

TÍTULO / TITLE:   - Effects of hypotherapy on the motor function of persons with Down’s syndrome: a systematic review.

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REVISTA / JOURNAL:    - Rev Neurol. 2018 Oct 1;67(7):233-241

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AUTORES / AUTHORS: - De Miguel A; et al

INSTITUCIÓN / INSTITUTION: - Universidad de Cordoba, 14004 Cordoba, España. 

RESUMEN / SUMMARY: - Down’s syndrome is the main cause of intellectual disability and the most common human genetic alteration. Motor impairments are among the most important alterations presented by Down’s syndrome subjects. Hippotherapy is a treatment on and with a horse, and it is currently being used as a therapy to correct those dysfunctions. AIM: To review published research literature on the effect exerted by hippotherapy on the gross motor function of people with Down’s syndrome. SUBJECTS AND METHODS: The bibliography in the following databases has been widely searched: CINAHL, Medline, The Cochrane Library, PEDro, Scopus, and Web of Science. The journals Fisioterapia and Cuestiones de Fisioterapia have also been consulted. The electronic literature search strategy was addressed in two thematic fields: Down’s syndrome and hippotherapy. Studies selection was carried out following inclusion and exclusion criteria and rejecting duplicate papers. That search included articles published between 2000 and 2016. RESULTS: For this work, 23 articles were found, 15 of which were discarded for different reasons, leaving 8 valid ones. CONCLUSIONS: There is no strong evidence on the improvement of gross motor function in people with Down’s syndrome after treatment with hippotherapy. More studies with higher methodological quality, are needed to verify the effectiveness of hippotherapy in the treatment of gross motor function in subjects with Down’s syndrome.

TÍTULO / TITLE:   - Transitioning from the level surface to stairs in children with and without Down syndrome: Motor strategy and anticipatory locomotor adjustments.

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REVISTA / JOURNAL:    - Gait Posture. 2018 Oct;66:260-266. doi: 10.1016/j.gaitpost.2018.09.010. Epub 2018 Sep 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.gaitpost.2018.09.010

AUTORES / AUTHORS: - Liang H;... Wu J;

INSTITUCIÓN / INSTITUTION: - Department of Kinesiology and Health, Georgia State University, Atlanta, GA, 30302, USA; Center for Pediatric Locomotion Sciences, Georgia State University, Atlanta, GA, 30302, USA.  

RESUMEN / SUMMARY: - BACKGROUND: Children with Down syndrome (DS) show underdeveloped motor strategy and anticipatory locomotor adjustments (ALA) before crossing an obstacle. Stairs presents another important setting to study environment navigation and motor adaptation. Inclusion of external ankle load is often used to perturb the stability of a system and observe the emergence of new patterns. RESEARCH QUESTION: How do stair height and external ankle load affect motor strategy and ALA in 5-to-11-year-old children with typical development (TD) and with DS when approaching the stairs? METHODS: Fourteen children with DS and 14 age- and sex-matched children with TD participated in the study. They walked along a 5-meter walkway and ascended 3-step staircases. There were three staircases (low, moderate, and high heights) and 2 loading conditions (no load and ankle load). A 3D motion capture system was used to collect data. Motor strategy was coded for each trial. Step length, width, time, and velocity, minimum toe clearance, and horizontal toe velocity were calculated for the last four steps before stair ascent. Mixed ANOVAs with repeated measures were conducted for statistical analysis. RESULTS: The TD group walked up all the stairs, while the DS group displayed a strategy shift from walking to crawling when the stairs became higher. While the TD group maintained the values of most spatiotemporal variables, the DS group continuously decreased step length and velocity but not step width over the last four approaching steps. Ankle load decreased step length, step velocity, minimum toe clearance, and horizontal toe velocity in the DS group, to a greater extent, than in the TD group. SIGNIFICANCE: Children with DS show underdeveloped motor strategy and ALA when approaching the stairs, and external ankle load further disrupts these patterns. Stair negotiation appears to be an effective assessment tool for evaluating motor adaptation in children with DS.

TÍTULO / TITLE:   - Step-counting accuracy of activity monitors in persons with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Sep 21. doi: 10.1111/jir.12550.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12550

AUTORES / AUTHORS: - Bertapelli F et al

INSTITUCIÓN / INSTITUTION: - Department of Kinesiology, Mississippi State University, Starkville, MS, USA. 

RESUMEN / SUMMARY: - Accelerometers and pedometers have been used to monitor the number of steps. However, the evidence on the step-counting accuracy of these devices - especially accelerometers - is limited in persons with Down syndrome (DS). This study therefore examined the accuracy of accelerometers placed on the hip or wrist and of a pedometer with a uni-axial accelerometer mechanism in measuring steps in persons with DS and whether device error is associated with walking speed, height, weight, body mass index, waist circumference, leg length, age or sex. METHOD: Seventeen persons with DS (eight women and nine men; age 33 +/- 15 years) walked over-ground for 6 min at their preferred speed. The steps were measured with a hip-worn and a wrist-worn ActiGraph accelerometer using the manufacturer’s default (DF) and low-frequency extension (LFE) filters, and with the NL-1000 New Lifestyles pedometer on the hip. Steps were also measured with hand tally which served as the criterion. RESULTS: Absolute percent error was considerable and differed statistically between devices (P = 0.001); however, error improved for accelerometers when LFE was applied (Hip-DF: 31.6 +/- 18.8%; Hip-LFE: 9.7 +/- 12.8%; Wrist-DF: 32.7 +/- 14.2%; Wrist-LFE: 13.6 +/- 10.2%; Pedometer: 23.2 +/- 22.8%). Bland-Altman plots indicated underestimation of steps for accelerometers and the pedometer. Application of LFE, however, improved the prediction of the accelerometers. The number of steps measured by the hip accelerometer with LFE and by the pedometer did not differ statistically from actual steps. Steps by the remaining methods were significantly lower than hand tally (P

TÍTULO / TITLE:   - A Young Man with Trisomy 21 and Sudden Behavioral Changes.

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REVISTA / JOURNAL:    - J Dev Behav Pediatr. 2018 Sep 21. doi: 10.1097/DBP.0000000000000616.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/DBP.0000000000000616

AUTORES / AUTHORS: - Cormier D 2nd; et al

INSTITUCIÓN / INSTITUTION: - Division of Developmental Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA. 

RESUMEN / SUMMARY: - CASE: Grant is a 13-year-old boy with trisomy 21 who presents with his mother for concerns regarding the emergence of several new disruptive behaviors. While he is verbal, he also communicates through an augmentative communication device. He currently attends a residential school. Over the past 2 months, he has begun spitting at the staff, engaging in self-injurious behaviors, placing his hands in his pants, and frequently talking about “pee and poop.” Notably, Grant has undergone several changes to his educational placement and medical health over the past several months. He recently transferred to his current residential school from another placement to be closer to his family, although this has meant that Grant was unable to work with his long-time aide. Additionally, most of the students at Grant’s current school are significantly lower functioning than him, such that Grant is one of the few verbal children.Approximately 3 months ago, Grant underwent significant dental work under anesthesia. Grant had previously taken an alpha-agonist for behavioral management, although he was weaned off this 4 months ago because of increasing somnolence increasing somnolence. Grant’s recent behavioral challenges make performing community and home activities more challenging. Grant’s behavioral history is notable for a previous episode of behavioral and emotional challenges 18 months ago. This occurred in the setting of transitioning to a new classroom with higher academic and behavioral expectations and decreased time spent with his family. These behaviors had consisted of self-injurious behaviors and tantrums consisting of crying and social withdrawal. This was managed by increased behavioral and academic supports via trained teachers and aides, medication management, and optimizing his augmentative communication. After these interventions, Grant’s behavioral and emotional functioning improved and remained stable until this current episode. Grant’s mother is concerned about wh

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Integrating a Geneticist in a Multidisciplinary Clinic for Down Syndrome Increases Commitment to Genetic Counseling.

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REVISTA / JOURNAL:    - Pediatr Qual Saf. 2017 Aug 25;2(5):e039. doi: 10.1097/pq9.0000000000000039. eCollection 2017 Sep-Oct

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/pq9.0000000000000039

AUTORES / AUTHORS: - Santoro SL; et al

INSTITUCIÓN / INSTITUTION: - Division of Genetics, Nationwide Children’s Hospital, Columbus, Ohio; Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, Ohio; Quality Improvement Services, Nationwide Children’s Hospital, Columbus, Ohio; and Director 

RESUMEN / SUMMARY: - Background: Although most physicians and genetic professionals are familiar with Down syndrome, many families do not have experience with Down syndrome before having a child diagnosed. The American Academy of Pediatrics has specific recommendations for genetic counseling and chromosome analysis for Down syndrome. Local Problem: The literature indicates that adherence to completion of appropriately timed genetic counseling is low at 31%. This study was initiated to determine our adherence rates and to improve if needed. Methods: In the Down syndrome clinic at Nationwide Children’s Hospital, a subspecialty clinic in the Division of Developmental and Behavioral Pediatrics, a genetic counselor was on-call but did not routinely attend. The intervention consisted of multidisciplinary care with the presence of a clinical geneticist. Statistical Process Control Charts and Fisher’s exact test were used to determine the impact of the intervention. Results: Our baseline rate of adherence to genetic counseling was similar to previous publications. Direct genetics involvement in the Down syndrome clinic in place of an on-call genetic counselor led to significant improvement in adherence to genetic counseling recommendations over a 6-month period from 35% to 62%, P < 0.001 and sustained for 6 months. Postclinic adherence rates and subanalyses by age showed similar results. The final postvisit adherence rate of 89% in February 2017 demonstrates continued improvement. Geneticist involvement allowed chromosome reports uploading and karyotype listing in electronic medical records. Implications and Lessons Learned: Genetic counseling in newborns with Down syndrome is important, yet was often not received at Nationwide Children’s Hospital before this study. Integrating a geneticist resulted in improvement. Implementing similar models at other institutions can ensure that the correct genetic testing is completed, results documented and families counseled appropriately.

TÍTULO / TITLE:   - Listening to fathers: Personal impacts of raising children with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil. 2018 Sep 16:1744629518801112. doi: 10.1177/1744629518801112.

Enlace a la Editora de la Revista doi: 10.1177/1744629518801112.

AUTORES / AUTHORS: - Marshak LE; et al.

INSTITUCIÓN / INSTITUTION: - Indiana University of Pennsylvania, USA. 

RESUMEN / SUMMARY: - The aim of this qualitative study was to contribute to an understanding of how biological fathers ( N = 311) believe having a child with Down syndrome has impacted them personally. Thematic analysis was used to derive meaning from responses to open-ended survey questions. In addition to describing personal impacts, fathers shared how their perspectives shifted over time and possible contributory factors. The results indicated that fathers were often deeply impacted by the experience of parenting a child with Down syndrome. The vast majority expressed positive changes in terms of personal growth; however, it is important to note that positive emotions often coexisted with more distressing ones such as anxiety and loss. Most fathers reported a positive trajectory in terms of their adjustment and many attributed it to learning that their negative assumptions about people with Down syndrome were not accurate. Implications for practitioners and researchers are discussed.

TÍTULO / TITLE:   - Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.

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REVISTA / JOURNAL:    - AMA. 2018 Aug 14;320(6):557-565. doi: 10.1001/jama.2018.9396.

Enlace a la Editora de la Revista http://dx.doi.org/10.1001/jama.2018.9396

AUTORES / AUTHORS: - Malan V; et al.

INSTITUCIÓN / INSTITUTION: - Department of Histology-Embryology and Cytogenetics, Hopital Necker-Enfants Malades, AP-HP, Paris, France. 

RESUMEN / SUMMARY: - Importance: Cell-free DNA (cfDNA) tests are increasingly being offered to women in the first trimester of pregnancies at a high risk of trisomy 21 to decrease the number of required invasive fetal karyotyping procedures and their associated miscarriages. The effect of this strategy has not been evaluated. Objective: To compare the rates of miscarriage following invasive procedures only in the case of positive cfDNA test results vs immediate invasive testing procedures (amniocentesis or chorionic villus sampling) in women with pregnancies at high risk of trisomy 21 as identified by first-trimester combined screening. Design, Setting, and Participants: Randomized clinical trial conducted from April 8, 2014, to April 7, 2016, in 57 centers in France among 2111 women with pregnancies with a risk of trisomy 21 between 1 in 5 and 1 in 250 following combined first-trimester screening. Interventions: Patients were randomized to receive either cfDNA testing followed by invasive testing procedures only when cfDNA tests results were positive (n = 1034) or to receive immediate invasive testing procedures (n = 1017). The cfDNA testing was performed using an in-house validated method based on next-generation sequencing. Main Outcomes and Measures: The primary outcome was number of miscarriages before 24 weeks’ gestation. Secondary outcomes included cfDNA testing detection rate for trisomy 21. The primary outcome underwent 1-sided testing; secondary outcomes underwent 2-sided testing. Results: Among 2051 women who were randomized and analyzed (mean age, 36.3 [SD, 5.0] years), 1997 (97.4%) completed the trial. The miscarriage rate was not significantly different between groups at 8 (0.8%) vs 8 (0.8%), for a risk difference of -0.03% (1-sided 95% CI, -0.68% to infinity; P = .47). The cfDNA detection rate for trisomy 21 was 100% (95% CI, 87.2%-100%). Conclusions and Relevance: Among women with pregnancies at high risk of trisomy 21, offering cfDNA screening, followed by invasive test

TÍTULO / TITLE:   - Fewer women aged 35 and older choose serum screening for Down’s syndrome: Impact and implications.

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REVISTA / JOURNAL:    - J Med Screen. 2018 Sep 25:969141318797961. doi: 10.1177/0969141318797961.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0969141318797961

AUTORES / AUTHORS: - Lambert-Messerlian G; Palomaki GE

INSTITUCIÓN / INSTITUTION: - 1 Department of Pathology and Laboratory Medicine, Women & Infants Hospital and the Alpert Medical School at Brown University, Providence, USA.;  

RESUMEN / SUMMARY: - Objective To quantify changes in the proportion of women aged 35 and older choosing serum screening for Down’s syndrome over time and the effect on false positive and detection rates. Methods From Rhode Island hospital-based laboratory prenatal screening records (2013-2017) we extracted the test performed (Integrated, Combined, Quadruple), maternal age, and Down’s syndrome risk; documented observed changes in maternal age distributions and false positive rates, and modelled the impact of varying proportions of older women choosing screening on each test’s performance using the 2015 United States birth cohort as baseline. Results Over five years, observed false positive rates for Integrated testing declined from 1.9 to 1.3% (-32%). The proportion of older women tested declined from 14.9 to 8.5%, from which modelling predicts a 16% decline in the false positive rate. This is lower than our observed change but consistent with a reduction driven by declining participation by older women. Modelling predicted a detection rate reduction from 89 to 87%. Larger detection rate impacts were predicted for Combined and Quadruple testing. Conclusions This study documents, for the first time, the declining proportion of older women choosing Down’s syndrome serum screening and subsequent impact on screening performance. The American College of Obstetrics and Gynecology recommends offering cell-free DNA screening for these ‘high risk’ pregnancies and uptake may increase further. Screening programmes could consider increasing use of Integrated testing over other serum screening tests or lowering risk cut-offs so false positive rates approach those of 2012 to regain lost detection.

TÍTULO / TITLE:   - Maternal plasma metabolic fingerprint indicative for fetal Down syndrome.

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REVISTA / JOURNAL:    - Prenat Diagn. 2018 Aug 10. doi: 10.1002/pd.5345.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pd.5345

AUTORES / AUTHORS: - Parfieniuk E; et al.

INSTITUCIÓN / INSTITUTION: - Clinical Research Centre, Medical University of Bialystok, Poland. 

RESUMEN / SUMMARY: - The objective of the study was to perform maternal plasma metabolic fingerprinting to evaluate differences in plasma metabolites between healthy and Down syndrome (DS) pregnancies and to indicate novel non-invasive markers for DS prenatal diagnostics. METHODS: This was a case-control study of pregnancies between 15th and 18th gestational week. LC-MS-based metabolic fingerprinting of plasma samples was performed. RESULTS: Levels of five metabolites were significantly lower in the plasma of DS pregnancies. The majority of the statistically significant metabolites may be connected with fetal brain and central nervous system development (eg, fatty acid amides). According to the receiver operating characteristic (ROC), the combination of linoleamide and piperine has the highest diagnostic potential: area under the curve (AUC) = 0.878, sensitivity of 100%, and specificity of 73.3%. CONCLUSIONS: The study indicates disturbances in maternal metabolic pathways evoked by fetal DS. Novel potential maternal plasma metabolomic markers for non-invasive prenatal diagnostics of fetal DS are proposed.

TÍTULO / TITLE:   - Service provision of non-invasive prenatal testing for Down syndrome in public and private healthcare sectors: a qualitative study with obstetric providers.

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REVISTA / JOURNAL:    - BMC Health Serv Res. 2018 Sep 21;18(1):731. doi: 10.1186/s12913-018-3540-9.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12913-018-3540-9

AUTORES / AUTHORS: - Ngan OMY;

INSTITUCIÓN / INSTITUTION: - CUHK Centre for Bioethics, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR. 

RESUMEN / SUMMARY: - BACKGROUND: Cell-free fetal DNA sequencing based non-invasive prenatal testing (NIPT) for Down syndrome (DS) has become widely available. In Hong Kong, obstetric providers in the public sector refer women identified at high risk of having a child with Down syndrome to obstetric providers in the private sector for NIPT. Little is known about how the NIPT has been adopted in the public sector where DS screening is provided for free of charge. The study aimed to identify the factors influencing providers’ role enactment, such as consultation and referral, in the service provision of NIPT for DS in public and private healthcare sectors. METHODS: In-depth interviews were conducted with 20 obstetric providers offering NIPT in Hong Kong. Thematic narrative analysis was used to identify (i) the factors considered by participants when referring women for NIPT for Down syndrome in public and private healthcare sectors and (ii) their perceptions of the need to integrate NIPT into the current public antenatal service. RESULTS: Participants raised concerns about the lack of transparent referral guideline between public and private sectors for NIPT. Public obstetric providers reported little obligation to provide women with much information about risks and benefits of NIPT as it was not provided by public sectors. Some private providers assumed that women referred from the public sector had already received sufficient information about NIPT. The providers were also concerned about potential application of NIPT for further detection without regulation. CONCLUSIONS: Although the providers had good knowledge of clinical advantages of NIPT over conventional screening, they were uncertain about how to introduce NIPT to women. Guidelines are necessary to enable better coordination of public and private sectors services to enable women to make informed choices about the uptake of NIPT.

TÍTULO / TITLE:   - Trisomy 21 screening based on first and second trimester in a Taiwanese population.

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REVISTA / JOURNAL:    - Taiwan J Obstet Gynecol. 2018 Aug;57(4):551-554. doi: 10.1016/j.tjog.2018.06.014.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.tjog.2018.06.014

AUTORES / AUTHORS: - Lan RY; ... Hsiao CH;

INSTITUCIÓN / INSTITUTION: - Department of Gynecology and Obstetrics, Women and Children Branch, Taipei City Hospital, Taipei, Taiwan; Department of Biomedical Engineering, National Yang Ming University, Taipei, Taiwan. 

RESUMEN / SUMMARY: - OBJECTIVE: This study investigates the performance of first- and second-trimester screening tests for detecting fetal trisomy 21 in a Taiwanese population. MATERIALS AND METHODS: This multicenter study 29,137 cases enrolled the chromosomal abnormality screening between 2013 and 2014 two years period from Taipei city. There were 23,990 was done the first trimester screening using a combination of fetal nuchal translucency, maternal serum beta-human chorionic gonadotropin, and pregnancy-associated plasma protein-A between 11(+0) and 13(+6) weeks of gestation age. Second-trimester screening was done for 5149 cases using a double test (beta-human chorionic gonadotropin and serum alpha fetoprotein) between 15 and 20 weeks of gestation. The cut-off risk for both is 1:270 or higher. RESULTS: This multicenter study 29,137 cases that completed first- and second-trimester screening, and the outcome was available in 28,726 cases. The mean maternal age of the screen-positive group was 34.6 +/- 4.2 years. The first-trimester had 891 cases screening positive with a detection rate of 97.5% for fetal trisomy 21, and false positive rate of 3.5%. In the second-trimester had 334 cases screening positive, the detection rate and false positive rate were 33.3% and 6.4% for trisomy 21, respectively. CONCLUSION: The first-trimester screening had higher performance with a lower false positive rate than the second-trimester screening. First-trimester screening could reduce the rate of unnecessary invasive testing for all pregnant women.

TÍTULO / TITLE:   - Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies.

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REVISTA / JOURNAL:    - Mol Cytogenet. 2018 Aug 22;11:47. doi: 10.1186/s13039-018-0392-2. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13039-018-0392-2

AUTORES / AUTHORS: - Yang J; et al

INSTITUCIÓN / INSTITUTION: - 1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China.grid.459579.3; 2Maternal and Children Metabolic-Genetic Key Laboratory, 

RESUMEN / SUMMARY: - Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but there is still relatively little studies demonstrate the feasibility and clinical application of a NIPT for fetal aneuploidy screening in twin pregnancies. Results: In this study, we have finished 432 twin pregnancies screening by NIPT. There were 4 double chorionic dichorionic diamniotic (DCDA) cases of true positive NIPT results, including 1of T18 and 3 of T21, and 1 monochorionic diamniotic (MCDA) cases of true positive NIPT results, including 1of T21. The combined false-positive frequency for trisomies 21, 18 was 0%. Furthermore, there were 2 cases of false positive NIPT results, including 1 of T7 and 1 of sex chromosome aneuploidy. There was no false negative case, which gave a combined sensitivity and specificity of 100 and 99.53% respectively. Conclusion: Our study demonstrated NIPT performed well in the detection of trisomy 21 in twin pregnancy. It is feasible and clinical applicable of NIPT for fetal aneuploidy screening in twin pregnancies. But, it needs a large number of clinical samples to demonstrate the applicability of other chromosomal abnormalities besides trisomies 21 and 18 in both singleton pregnancies and twin pregnancies.

TÍTULO / TITLE:   - Spontaneous and IVF pregnancies have comparable first trimester screening profiles for down syndrome.

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REVISTA / JOURNAL:    - J Turk Ger Gynecol Assoc. 2018 Sep 11. doi: 10.4274/jtgga.2017.0133.

Enlace a la Editora de la Revista http://dx.doi.org/10.4274/jtgga.2017.0133

AUTORES / AUTHORS: - Guzel Y; et al.

INSTITUCIÓN / INSTITUTION: - Assisted Reproduction Unit, American Hospital Women’s Health Center, Istanbul, Turkey. 

RESUMEN / SUMMARY: - We aimed to compare the first trimester screening profiles of spontaneous (n=972) and IVF pregnancies (n=339) in a population of patients who had uncomplicated singleton pregnancies comparable for maternal age, gestation, BMI and ethnicity. MATERIAL AND METHODS: A non-interventional analysis of retrospective cohort data and review of the literature. RESULTS: All IVF pregnancies were achieved via ICSI using the same ovarian stimulation protocol with recombinant FSH and GnRH antagonist cetrorelix acetate. The means of the MoM (multiple of median) of PAPP-A were slightly lower in the fresh (1.19+/-0.6 vs. 1.33+/-0.7 p=0.056, respectively) and frozen ET (1.03+/-0.5 vs. 1.33+/-0.7 p=0.036, respectively) IVF pregnancies compared to natural conceptions. However, when the medians of the MoMs of PAPP-A and beta-hCG, and their distributions were compared across the mode of conception, IVF pregnancies were not any different from spontaneous ones. Furthermore, the scatterplot diagram and curve fitting regression analyses did not reveal any difference in the temporal relations of beta-hCG and PAPP-A with each other and gestational age between spontaneous and IVF pregnancies. CONCLUSION: These results support the notion that uncomplicated singleton IVF pregnancies have similar first trimester screening profiles to spontaneous conceptions.

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Risk factors for challenging behaviour and psychopathology in adults with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Aug 19. doi: 10.1111/jir.12541.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12541

AUTORES / AUTHORS: - Nevill RE; Benson BA

INSTITUCIÓN / INSTITUTION: - Department of Psychology and Nisonger Center, UCEDD, The Ohio State University, Columbus, OH, USA 

RESUMEN / SUMMARY: - This study explored the role of demographic, psychosocial, stress and life event-related risk factors for psychopathology and challenging behaviour in a clinical sample of adults with Down syndrome. METHOD: A convenience sample of adults with Down syndrome seen through a specialised clinic was assessed through interviews and questionnaires specifically designed for use in people with intellectual disabilities. RESULTS: Recent negative life events and stressors were significantly correlated with mental and behavioural health, and significantly predicted irritability, lethargy and depressed mood. Social avoidance was predicted by stress related to anticipation and social-environmental stressors, and negatively predicted by verbal ability. Ritual-related stress predicted obsessive-compulsive behaviour. Participants who did not have a job or vocational placement were significantly more depressed than participants who did. CONCLUSIONS: Adults with Down syndrome should be provided increased supports for coping with negative life events and stressors. Interventions should also emphasise community engagement, such as employment, and access to psychosocial supports that teach coping and self-regulation skills when faced with stressors and negative life events.

TÍTULO / TITLE:   - Relationship between the use of lower extremity orthoses and the developmental quotient of The Kyoto Scale of Psychological Development in children with Down syndrome.

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REVISTA / JOURNAL:    - J Phys Ther Sci. 2018 Aug;30(8):1019-1023. doi: 10.1589/jpts.30.1019. Epub 2018 Jul 24.

Enlace a la Editora de la Revista http://dx.doi.org/10.1589/jpts.30.1019

AUTORES / AUTHORS: - Kanai Y; et al.

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, Ibaraki Prefectural University of Health Sciences: 4669-2 Ami-machi Ami, Inashiki-gun, Ibaraki 300-0394 Japan. 

RESUMEN / SUMMARY: - The Kyoto Scale of Psychological Development is an evaluation scale developed in the field of psychology. The initial aim of this study was to determine whether the quotient of the Postural-Motor area in the scale was correlated with the use of orthosis in patients with Down syndrome. The second aim was to examine a correlation among Postural-Motor, Cognitive-Adaptive, and Language-Social areas in the participants. [Participants and Methods] Patients with Down syndrome who had received a developmental examination, the Kyoto Scale of Psychological Development, were retrospectively investigated. The sample included 78 participants. Data on the participants’ calendar ages ranged from 4.1 to 6.0 years, and the mean age was 4.9 at the examination. The investigated parameters were the number of participants who used an orthosis or insole and the mean developmental quotient for the Postural-Motor, Cognitive-Adaptive, and Language-Social areas. [Results] Twenty participants who completed the exam used an orthosis, and 18 of these had an insole as a first orthosis. The mean Postural-Motor quotient was significantly lower in participants who used an orthosis than in those who did not (52.3 +/- 14.7). [Conclusion] The mean quotient of the Postural-Motor area was significantly lower in patients with Down syndrome who were prescribed some kind of orthosis than in those who were not. There was a significant correlation among the quotients of the three areas. The use of orthosis was expected to positively influence the Cognitive-Adaptive and Language-Social areas through the future in people with Down syndrome who have some difficulty with posture and movement.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Risk factors for challenging behaviour and psychopathology in adults with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Aug 19. doi: 10.1111/jir.12541.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12541

AUTORES / AUTHORS: - Nevill RE; Benson BA

INSTITUCIÓN / INSTITUTION: - Department of Psychology and Nisonger Center, UCEDD, The Ohio State University, Columbus, OH, USA. 

RESUMEN / SUMMARY: - This study explored the role of demographic, psychosocial, stress and life event-related risk factors for psychopathology and challenging behaviour in a clinical sample of adults with Down syndrome. METHOD: A convenience sample of adults with Down syndrome seen through a specialised clinic was assessed through interviews and questionnaires specifically designed for use in people with intellectual disabilities. RESULTS: Recent negative life events and stressors were significantly correlated with mental and behavioural health, and significantly predicted irritability, lethargy and depressed mood. Social avoidance was predicted by stress related to anticipation and social-environmental stressors, and negatively predicted by verbal ability. Ritual-related stress predicted obsessive-compulsive behaviour. Participants who did not have a job or vocational placement were significantly more depressed than participants who did. CONCLUSIONS: Adults with Down syndrome should be provided increased supports for coping with negative life events and stressors. Interventions should also emphasise community engagement, such as employment, and access to psychosocial supports that teach coping and self-regulation skills when faced with stressors and negative life events.

TÍTULO / TITLE:   - A pilot study evaluating depression in mothers with children diagnosed with Down syndrome in state health care.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Sep 19. doi: 10.1111/jir.12549.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12549

AUTORES / AUTHORS: - Swanepoel M Haw T;

INSTITUCIÓN / INSTITUTION: - Division of Human Genetics, School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.;  

RESUMEN / SUMMARY: - Parenting a child who has an intellectual disability has been shown to increase the risk for developing depression. The purpose of this study was to screen for depression and to determine if there is an association between depressive symptoms and certain sociodemographic factors in mothers with a child diagnosed with Down syndrome in state health care facilities in Johannesburg. METHODS: The study included 30 biological mothers of children between 6 months and 3 years diagnosed with Down syndrome postnatally. The Edinburgh Postnatal Depression Scale (EPDS) was used to assess depression in participants. A 10-item sociodemographic questionnaire was concurrently administered. Data analysis was conducted using descriptive and inferential statistical analysis. RESULTS: The 30 mothers had a mean EPDS score of 9.1 (SD = 5.89) with scores ranging between 0 and 26. Eight mothers (26.7%) screened positive for depression with an EPDS score of 13 or greater. A statistically significant association was found between an HIV-positive status and mothers who had an EPDS score of 13 or greater (P = 0.01). No significant association between depression and various other sociodemographic factors was identified. CONCLUSIONS: Mothers with a child diagnosed with Down syndrome may be vulnerable to developing depression. A significant association was found between a positive HIV status and symptoms of depression, in mothers with a child diagnosed with Down syndrome. This study indicates the need for further investigations assessing the causes and risk factors resulting in postnatal depression in mothers with a child diagnosed with Down syndrome.

TÍTULO / TITLE:   - Expressed emotion and impulsiveness in mothers of children with Fragile X Syndrome and Down Syndrome: The relation to behavioral problems in their offspring.

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REVISTA / JOURNAL:    - Res Dev Disabil. 2018 Sep 17;83:179-189. doi: 10.1016/j.ridd.2018.08.016.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2018.08.016

AUTORES / AUTHORS: - Cregenzan-Royo O; et al.

INSTITUCIÓN / INSTITUTION: - Department of Clinical and Health Psychology, Universidad Autonoma de Barcelona, Carrer de Ca n’-Altayo, S/N, 08193, Cerdanyola del Valles, España.  

RESUMEN / SUMMARY: - Fragile X Syndrome (FXS) and Down Syndrome (DS) are common causes of Intellectual Disability (ID). Mothers of individuals with FXS sometimes have the premutation condition which makes them display neurocognitive signs, such as impulsiveness impairments, while mothers of DS individuals, as a group, do not have impairments. Although behavior problems in individuals with ID may be related to high Expressed Emotion (EE) in parents, parenting in families with ID members has been little explored. AIM: To explore the relationship between a mother’s EE and impulsiveness, in mothers of individuals with FXS and DS, with behavior problems in their offspring. METHOD: A questionnaire was developed to collect data about impulsiveness and EE in mothers, along with information about behavior problems in ID individuals. RESULTS: EE scores were associated with behavior problems in their offspring for both samples. Mothers with the premutation showed higher scores in EE than mothers of DS individuals. However, impulsiveness scores were not different between both parental groups, and were related to EE scores. CONCLUSIONS: EE is a parental feature that is possible to modulate and seems to be related to behavior problems in ID individuals. More research should be carried on to create interventions to reduce this attitude in parents of ID individuals.

TÍTULO / TITLE:   - Comparing differences in support needs as perceived by parents of adult offspring with down syndrome, autism spectrum disorder and cerebral palsy.

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2018 Aug 12. doi: 10.1111/jar.12521.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12521

AUTORES / AUTHORS: - Lee CE et al

INSTITUCIÓN / INSTITUTION: - University of Illinois at Chicago, Chicago, Illinois. 

RESUMEN / SUMMARY: - Parents often face many barriers when taking care of their offspring with disabilities. In childhood, support needs vary with families of children with Down syndrome often reporting less caregiving challenges. However, it is unclear whether support needs vary in adulthood. This study compared parents of adults with Down syndrome (DS), autism spectrum disorder (ASD) and cerebral palsy (CP) regarding support needs of their offspring with intellectual and developmental disabilities (IDD) and their families. METHOD: Data were collected via a national survey in the United States with 189 parents of adults with IDD. RESULTS: Across the quantitative and qualitative analyses, parents of adults with DS (versus CP and ASD) reported significantly greater recreational, natural supports, more formal services and less future planning barriers. CONCLUSION: The results indicate that the DS advantage may persist in adulthood regarding support needs. More research is needed to understand different types of support

TÍTULO / TITLE:   - Listening to fathers: Personal impacts of raising children with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil. 2018 Sep 16:1744629518801112. doi: 10.1177/1744629518801112.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/1744629518801112

AUTORES / AUTHORS: - Marshak LE; et al

INSTITUCIÓN / INSTITUTION: - Indiana University of Pennsylvania, USA. 

RESUMEN / SUMMARY: - The aim of this qualitative study was to contribute to an understanding of how biological fathers ( N = 311) believe having a child with Down syndrome has impacted them personally. Thematic analysis was used to derive meaning from responses to open-ended survey questions. In addition to describing personal impacts, fathers shared how their perspectives shifted over time and possible contributory factors. The results indicated that fathers were often deeply impacted by the experience of parenting a child with Down syndrome. The vast majority expressed positive changes in terms of personal growth; however, it is important to note that positive emotions often coexisted with more distressing ones such as anxiety and loss. Most fathers reported a positive trajectory in terms of their adjustment and many attributed it to learning that their negative assumptions about people with Down syndrome were not accurate. Implications for practitioners and researchers are discussed.

TÍTULO / TITLE:   - Breastfeeding Experiences of Mothers of Children with Down Syndrome.

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REVISTA / JOURNAL:    - Compr Child Adolesc Nurs. 2018 Aug 10:1-15. doi: 10.1080/24694193.2018.1496493.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/24694193.2018.1496493

AUTORES / AUTHORS: - Barros da Silva R; ,,, Van Riper M;

INSTITUCIÓN / INSTITUTION: - School of Nursing, and Carolina Center for Genome Sciences , The University of North Carolina at Chapel Hill , Chapel Hill , North Carolina , USA. 

RESUMEN / SUMMARY: - Children with Down syndrome are less likely to be breastfed than typically developing children, and breastfeeding has a lower duration compared to recommendations of the World Health Organization. The aim of this study was to understand the breastfeeding experiences of mothers of children with Down syndrome, including their perceptions of the breastfeeding process and their specific practices. This is a qualitative study with 10 participants, mothers of children aged between 2 months and 9 years. Snowball sampling was used for participants’ selection, and semi-structured interviews conducted in participants’ households. Three categories emerged: “the breastfeeding experience,” involving the process of breastfeeding, the breast milk, feelings, and difficulties of this practice; “experiences of health care,” encompassing the support received by health professionals, dissatisfaction with health services, lack of support in breastfeeding, and discontent with health professional behavior; and “learning about Down syndrome,” with search for information by parents and advice to health professionals. In this study, we found evidence that breastfeeding success relies very much on mothers’ willingness and support of health professionals, namely, nurses. Findings from this study suggest that support of a multidisciplinary team is essential to the success of breastfeeding. Greater awareness is needed regarding the unique rewards and challenges of breastfeeding these infants, as well as how families cope with the ongoing challenges. Therefore, this research is relevant to understand the experiences of mothers of children with DS about breastfeeding, identifying the inhibiting factors, in order to create more appropriate strategies to intervene and implement practices that contribute to the support and promotion of breastfeeding. Results will also influence the education of health professionals, emphasizing the importance of multidisciplinary teams for a comprehensive care and co

TÍTULO / TITLE:   - Adherence to health management guidelines for children with Down’s syndrome at the Bustamante Hospital for Children, Jamaica.

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REVISTA / JOURNAL:    - Trop Doct. 2018 Aug 16:49475518788468. doi: 10.1177/0049475518788468.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0049475518788468

AUTORES / AUTHORS: - Livingstone-Sinclair K; et al.

INSTITUCIÓN / INSTITUTION: - 1 Paediatric Resident, Bustamante Hospital for Children, Kingston, Jamaica. 

RESUMEN / SUMMARY: - Health surveillance of children with Down’s syndrome may be inadequate. We aimed to assess adherence to health management guidelines at the main paediatric hospital in Jamaica. Ours was a retrospective descriptive study over a five-year period. Data on demographics, co-morbidities, investigations, referrals and interventions were recorded. Of 41 children included in the study, 85% were diagnosed in the neonatal period. Congenital heart disease in 29 (76%) and ophthalmological disorders in 13/24 (54%) were the most common co-morbidities. Evaluations in accordance with the American Academy of Pediatrics guidelines were carried out in only 46% of the children for echocardiography, 48% for ophthalmology, 30% for hearing evaluation and 10% for neonatal thyroid screening. Thus, the recommended guidelines were not carried out in a timely manner in the majority of the children. Education of healthcare providers and caregivers along with the provision of adequate resources may help to resolve this inadequacy.

TÍTULO / TITLE:   - Evaluation of Pediatrician Adherence to the American Academy of Pediatrics Health Supervision Guidelines for Down Syndrome.

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REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2018 Sep;123(5):387-398. doi: 10.1352/1944-7558-123.5.387.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-123.5.387

AUTORES / AUTHORS: - ONeill ME; et al

INSTITUCIÓN / INSTITUTION: - Lurie Children’s Hospital of Chicago. 

RESUMEN / SUMMARY: - The American Academy of Pediatrics’s guideline on health supervision for children with Down syndrome (DS) offers pediatricians guidance to improve detection of comorbid conditions. Pediatrician adherence has not yet been comprehensively evaluated. Medical records of 31 children with DS who received primary care at two urban academic clinic sites from 2008-2012 were reviewed. Data was extracted on adherence to age-specific individual guideline components for each subject by year-of-life (total 84 years-of-life). Overall adherence across all components was 83% (2001 guideline) and 67% (2011 guideline). Adherence to thyroid, hearing, vision, and developmental components was >85%, and anticipatory guidance regarding atlantoaxial instability and sexuality was <35%. Overall adherence was higher when a subject was younger and when a provider was an attending-level pediatrician.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Hospitalization for Respiratory Syncytial Virus in Children with Down Syndrome Less than 2 Years of Age: A Systematic Review and Meta-Analysis.

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REVISTA / JOURNAL:    - J Pediatr. 2018 Sep 25. pii: S0022-3476(18)31116-8. doi: 10.1016/j.jpeds.2018.08.006.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpeds.2018.08.006

AUTORES / AUTHORS: - Mitra S; et al.

INSTITUCIÓN / INSTITUTION: - Division of Neonatal Perinatal Medicine, Department of Pediatrics, Dalhousie University and IWK Health Center, Halifax, NS, Canada.  

RESUMEN / SUMMARY: - To compare the respiratory syncytial virus (RSV)-related hospitalization rate, hospital length of stay (LOS), and need for assisted ventilation in children aged <2 years with Down syndrome and those without Down syndrome. STUDY DESIGN: MEDLINE, Embase, and CINAHL databases were searched from inception up to December 2017. Studies that provided data on RSV-related hospitalization in children aged <2 years with Down syndrome and those without Down syndrome were included. Data were independently extracted in pairs by 2 reviewers and synthesized with random-effects meta-analysis. RESULTS: In 10 studies including a total of 1 748 209 children, 12.6% of the children with Down syndrome (491 of 3882) were hospitalized with RSV infection. The presence of Down syndrome was associated with a significantly higher risk of RSV-related hospitalization (relative risk [RR], 6.06; 95% CI, 4.93-7.45; I(2) = 65%; Grading of Recommendations, Assessment, Development and Evaluation [GRADE], moderate). RSV-related LOS (mean difference, 2.11 days; 95% CI, 1.47-2.75 days; I(2) = 0%; GRADE, low), and the need for assisted ventilation (RR, 5.82; 95% CI, 1.81-18.69; I(2) = 84%; GRADE, low). Children with Down syndrome without congenital heart disease (RR, 6.31; 95% CI, 4.83-8.23; GRADE, moderate) also had a significantly higher risk of RSV-related hospitalization. The risk of RSV-related hospitalization remained significant in the subgroup of children aged <1 year (RR, 6.25; 95% CI, 4.71-8.28; GRADE, high). CONCLUSION: RSV-related hospitalization, hospital LOS, and the need for assisted ventilation are significantly higher in children with Down syndrome aged <2 years compared with those without Down syndrome. The results should prompt reconsideration of the need for routine RSV prophylaxis in children with Down syndrome up to 2 years of age.

TÍTULO / TITLE:   - Down Syndrome and the Risk of Severe RSV Infection: A Meta-analysis.

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REVISTA / JOURNAL:    - Pediatrics. 2018 Sep;142(3). pii: peds.2018-0225. doi: 10.1542/peds.2018-0225. Epub 2018 Aug 9

Enlace a la Editora de la Revista http://dx.doi.org/10.1542/peds.2018-0225

AUTORES / AUTHORS: - Beckhaus AA; Castro-Rodriguez JA;

INSTITUCIÓN / INSTITUTION: - Division of Pediatrics, Department of Pediatric Pulmonology and Cardiology, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common chromosomal condition in live-born infants worldwide, and lower respiratory infection caused by respiratory syncytial virus (RSV) is a leading cause of hospital admissions. OBJECTIVE: To evaluate RSV-associated morbidity among children with DS compared with a population without DS. DATA SOURCES: Four electronic databases were searched. STUDY SELECTION: All cohorts or case-control studies of DS with an assessment of RSV infection and the associated morbidity or mortality were included without language restriction. DATA EXTRACTION: Two reviewers independently reviewed all studies. The primary outcomes were hospital admission and mortality. Secondary outcomes included length of hospital stay, oxygen requirement, ICU admission, need for respiratory support, and additional medication use. RESULTS: Twelve studies (n = 1 149 171) from 10 different countries met the inclusion criteria; 10 studies were cohort studies, 1 study was retrospective, and 1 study had both designs. DS was associated with a higher risk of hospitalization (odds ratio [OR]: 8.69; 95% confidence interval [CI]: 7.33-10.30; I(2) = 11%) and mortality (OR: 9.4; 95% CI: 2.26-39.15; I(2) = 38%) compared with what was seen in controls. Children with DS had an increased length of hospital stay (mean difference: 4.73 days; 95% CI: 2.12-7.33; I(2) = 0%), oxygen requirement (OR: 6.53; 95% CI: 2.22-19.19; I(2) = 0%), ICU admission (OR: 2.56; 95% CI: 1.17-5.59; I(2) = 0%), need for mechanical ventilation (OR: 2.56; 95% CI: 1.17-5.59; I(2) = 0%), and additional medication use (OR: 2.65 [95% CI: 1.38-5.08; I(2) = 0%] for systemic corticosteroids and OR: 5.82 [95% CI: 2.66-12.69; I(2) = 0%] for antibiotics) than controls. LIMITATIONS: DS subgroups with and without other additional risk factors were not reported in all of the included studies. CONCLUSIONS: Children with DS had a significantly higher risk of severe RSV infection than children without DS.

TÍTULO / TITLE:   - Obstructive Sleep Apnea in Children with Down Syndrome: Demographic, Clinical, and Polysomnographic Features.

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REVISTA / JOURNAL:    - Otolaryngol Head Neck Surg. 2018 Aug 28:194599818797308. doi: 10.1177/0194599818797308.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0194599818797308

AUTORES / AUTHORS: - Chamseddin BH; et al.

INSTITUCIÓN / INSTITUTION: - 1 University of Texas Southwestern Medical Center, Dallas, Texas, USA. 

RESUMEN / SUMMARY: - Objectives To evaluate demographic, clinical, and polysomnographic features of children with Down syndrome suspected of having obstructive sleep apnea. To identify factors that predict severe obstructive sleep apnea among children with Down syndrome. Study Design Case series with chart review. Setting Children’s Medical Center Dallas / University of Texas Southwestern Medical Center. Subject and Methods Demographic, clinical, and polysomnographic data were collected for children with Down syndrome aged 2 to 18 years. Simple and multivariable regression models were used to study predictors of severe obstructive sleep apnea (apnea-hypopnea index >/=10). P/=1 medical comorbidities; 95 (90%) patients had obstructive sleep apnea; and 46 (44%) had severe obstructive sleep apnea. The mean SaO2 nadir was lower among obese than nonobese children (80% vs 85%, P = .02). Obese versus nonobese patients had a higher prevalence of severe obstructive sleep apnea (56% vs 35%, P = .03). Severe OSA was associated with heavier weight (odds ratio = 1.0, 95% CI: 1.0-1.1, P = .002) and age >/=12 years (odds ratio = 1.2, 95% CI: 0.2-2.5, P = .02). The multivariable model showed that severe obstructive sleep apnea was associated only with weight (odds ratio = 1.1, 95% CI: 1.0-1.1, P = .02). Conclusion Obese children with DS are at a high risk for severe OSA, with weight as the sole risk factor. The results of this study show the importance of monitoring the weight of children with DS and counseling parents of children with DS about weight loss.

TÍTULO / TITLE:   - Effect of a 1-week intense myofunctional training on obstructive sleep apnoea in children with Down syndrome.

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REVISTA / JOURNAL:    - Arch Dis Child. 2018 Aug 2. pii: archdischild-2018-315064. doi: 10.1136/archdischild-2018-315064.

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/archdischild-2018-315064

AUTORES / AUTHORS: - von Lukowicz M; et al.

INSTITUCIÓN / INSTITUTION: - Sleep Medicine, Department of Neonatology, University of Tuebingen, Tuebingen, Germany. 

RESUMEN / SUMMARY: - Obstructive sleep apnoea (OSA) is common in children with Down syndrome (DS), yet difficult to treat. As muscular hypotonia of the upper airway may cause OSA and is also common in DS, we tested whether intense myofunctional therapy improves OSA in children with DS. PATIENTS AND METHODS: Forty-two children underwent cardiorespiratory sleep studies immediately before and after a 1-week intensive training camp consisting of three daily 45 min sessions of myofunctional exercises according to Padovan. Primary outcome was the mixed-obstructive-apnoea/hypopnoea index (MOAHI), secondary outcomes the /=3 hours of artefact-free recording in both the pretreatment and post-treatment sleep study and were therefore included in the analysis. Mean age was 6.3 years (SD 2.5); 83% had OSA prior to intervention. Mean MOAHI was 6.4 (SD 8.6) before and 6.4 (SD 10.8) after the intervention (p>0.05); the DI3 and SpO2nadir also did not change. Only the DI90 decreased significantly from 2.7 (SD 4.5) to 2.1 (SD 3.7) (p<0.05). CONCLUSION: The 1-week intense myofunctional training camp evaluated here in children with DS had only a marginal effect on OSA. Whether a longer follow-up period or duration of intervention would yield stronger effects remains to be determined.

TÍTULO / TITLE:   - Obstructive sleep apnea in patients with Down syndrome: current perspectives.

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REVISTA / JOURNAL:    - Nat Sci Sleep. 2018 Sep 13;10:287-293. doi: 10.2147/NSS.S154723. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.2147/NSS.S154723

AUTORES / AUTHORS: - Simpson R; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Children’s Mercy Hospital, Kansas City, MO, USA 

RESUMEN / SUMMARY: - For individuals with Down syndrome (DS), obstructive sleep apnea (OSA) is a complex disorder with significant clinical consequences. OSA is seen frequently in DS, and when present, it tends to be more severe. This increased prevalence is likely related to common anatomic abnormalities and a greater risk of additional comorbidities such as hypotonia and obesity. Because signs and symptoms do not often correlate with disease, all children and adults with DS should receive routine screening for OSA. Similar to the general population, polysomnography remains the gold standard for diagnosis. Because individuals with DS may be more susceptible to cardiovascular and neurocognitive sequelae, early diagnosis and treatment of OSA is becoming increasingly important. Treatment options generally involve upper airway surgery (primarily adenotonsillectomy) and continuous positive airway pressure (CPAP); however, various adjunctive therapies including intranasal steroids, palatal expansion, and oropharyngeal exercises are also available. Residual disease status post adenotonsillectomy is common, and further evaluation (eg, drug-induced sleep endoscopy [DISE]) is often needed. More advanced and directed airway surgery can be performed if additional sites of obstruction are observed. Novel therapies including hypoglossal nerve stimulation are emerging as effective treatments for refractory OSA. Due to the diversity among individuals with DS, personalized treatment plans should be developed. Within this arena, opportunities for research remain abundant and should include areas involving patient risk factors, alternative diagnostic methods, and outcome analysis.

Surgery - Cirugía

TÍTULO / TITLE:   - Increased complications in pediatric surgery are associated with comorbidities and not with Down syndrome itself.

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REVISTA / JOURNAL:    - J Surg Res. 2018 Oct;230:125-130. doi: 10.1016/j.jss.2018.04.010. Epub 2018 May 25.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jss.2018.04.010

AUTORES / AUTHORS: - Bartz-Kurycki MA ... Kawaguchi AL;

INSTITUCIÓN / INSTITUTION: - Center for Surgical Trials and Evidence-based Practices (C-STEP), The University of Texas Health Sciences Center at Houston, Houston, Texas; Department of Pediatric Surgery, McGovern Medical School at The University of Texas Health Science  

RESUMEN / SUMMARY: - Down syndrome (DS) is a genetic condition associated with multiple comorbidities. While physicians may perceive that DS patients have more postoperative complications, the literature remains unclear. This study compared postoperative complications for children with and without DS who underwent abdominal and thoracic procedures. METHODS: The National Surgical Quality Improvement Program Pediatric was queried for patients aged <18 years, who underwent abdominal and noncardiac thoracic operations (by Current Procedural Terminology codes) from 2012 to 2015. The analysis compared patients based on the presence or absence of DS. The primary outcome was a composite of all postoperative complications as defined by the National Surgical Quality Improvement Program Pediatric. The analysis utilized chi-square, Student’s t-test, and univariate and multiple logistic regression. RESULTS: There were 91,478 patients included, of which 1476 (1.6%) had a diagnosis of DS. Patients with DS had higher rates of preoperative nutritional support (38.8% versus 15.0%), developmental delay (61.9% versus 10.4%), and cardiac risk factors (76.5% versus 13.8%). The overall rate of postoperative complications was 11.1%, with a greater proportion in DS patients (16.2% versus 10.8%, P < 0.001). On univariate analysis, DS was associated with increased odds of postoperative complications (odds ratio 1.6 95% confidence interval 1.4-1.9) compared with the non-DS group; however, DS was not a risk factor after adjusting for other covariates (adjusted odds ratio 0.86 95% confidence interval 0.7-1.1). CONCLUSIONS: A higher proportion of postoperative complications were observed in patients with DS. However, after adjusting for other risk factors, DS was not an independent risk factor. The increased rate of complications is likely related to the presence of multiple comorbidities in DS.

TÍTULO / TITLE:   - Anesthetic Management of a Down Syndrome Patient with Subocclusive Syndrome.

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REVISTA / JOURNAL:    - Maedica (Buchar). 2018 Jun;13(2):159-164. doi: 10.26574/maedica.2018.13.2.159.

Enlace a la Editora de la Revista http://dx.doi.org/10.26574/maedica.2018.13.2.159

AUTORES / AUTHORS: - Moldoveanu GG; et al.

INSTITUCIÓN / INSTITUTION: - Elias Emergency University Hospital, Anaesthesia and Intensive Care Unit, Bucharest, Romania 

RESUMEN / SUMMARY: - The present study aims to describe the anesthetic management of a patient with Down syndrome in connection to the degree of difficulty in orotracheal intubation and the associated risks of general anesthesia. The established diagnosis was subocclusive syndrome, requiring an emergent surgical intervention. Preoperatively, the patient was stabilized, and secondly, a series of clinical and paraclinical investigations were carried out in order to assess the best management of the anesthetic procedure. Risk factors were identified, including ischemic heart disease, grade II obesity, hyperglycemia, patient’s old age and marked mental retardation. The results of examinations that were carried out showed that the degree of difficulty of orotracheal intubation was low. Finally, the preoperative assessment indicated that the most appropriate approach for this patient was to perform a general anesthesia with endotracheal intubation. However, special care was given to the anesthetic and postoperative condition of the patient in order to lower the possible complications of the surgical intervention.

TÍTULO / TITLE:   - Iatrogenic neurological injury in children with trisomy 21.

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REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol. 2018 Nov;114:36-43. doi: 10.1016/j.ijporl.2018.08.029. Epub 2018 Aug

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijporl.2018.08.029

AUTORES / AUTHORS: - Husnudinov RE; et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology, Hospital for Sick Children, Toronto, ON, Canada; Department of Otolaryngology, Head and Neck Surgery, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.  

RESUMEN / SUMMARY: - Children with trisomy 21 are at a greater risk for craniocervical junction instability than the general population. These children frequently require administration of anesthesia due to surgical (including otolaryngological) interventions and are at risk for neurological injury. We reviewed the current literature describing iatrogenic neurological injury in children with trisomy 21 undergoing anesthesia in order to facilitate the development of safety recommendations. METHODS: A systematic review of the literature was performed using Medline, Embase, Scopus, and Google Scholar, following the PRISMA statement. All cases of perioperative neurological injury in children with trisomy 21, aged 18 and under were identified. Clinical and radiographic data were extracted for each report. The data were synthesized to develop recommendations regarding perioperative management. RESULTS: Of 348 articles screened, 16 cases of iatrogenic neurological injury (in children ages 0.7-18 years) were identified. Three injuries occurred during otolaryngological surgeries, nine during sedation for intubation for non-otolaryngological surgery, one during sedation for neuroimaging, one while restraining a child, and two were due to intraoperative head and neck positioning while anesthetized. Preoperative screening was reported in four cases. A diagnosis of atlantoaxial instability (AAI) or atlantooccipital instability (AOI) was made immediately following symptom presentation in three cases but was often delayed by a median (IQR) of 30(11.5-912.5) days. No cases resolved spontaneously, with 2 patients progressing to brain death and 12 requiring surgical stabilization. Of the latter, seven showed improvement, whereas one died 5 months later. No intraoperative precautions during the index procedure were reported in any of the 16 cases. CONCLUSION: Iatrogenic neurological injury in children with trisomy 21 are rare but severe and likely under reported. Although the role of preoperative screenin

TÍTULO / TITLE:   - Selecting an Appropriate Cuffed Endotracheal Tube Using Ultrasound of the Cricoid in a Child with Down Syndrome.

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REVISTA / JOURNAL:    - Turk J Anaesthesiol Reanim. 2018 Aug;46(4):323-325. doi: 10.5152/TJAR.2018.87847. Epub 2018 Aug 1.

Enlace a la Editora de la Revista http://dx.doi.org/10.5152/TJAR.2018.87847

AUTORES / AUTHORS: - Kayashima K Yamasaki R

INSTITUCIÓN / INSTITUTION: - Japan Community Health Care Organization Kyushu Hospital, Kitakyushu, Japan. 

RESUMEN / SUMMARY: - A 7-year-old girl (height, 94 cm; weight, 15.1 kg) with Down syndrome was scheduled for right patellar dislocation repositioning. The ultrasonographically measured internal transverse width of the cricoid before intubation was 7.8 mm. Attempted insertion of a cuffed Mallinckrodt® endotracheal tube (ETT) (internal diameter, 5.0 mm; deflated cuff portion, 8.4 mm diameter) failed. In contrast, the insertion of a cuffed Microcuff® ETT (5.0 mm ID; deflated cuff portion, 7.3 mm diameter) was successful. Thicker folds in the deflated cuff of the Mallinckrodt ETT could have hindered passage through the vocal cord, including the cricoid region. It is becoming standard to use the ultrasonographically measured internal width of the cricoid when choosing cuffed paediatric ETTs, and this approach may be suitable for patients with Down syndrome as well. In these children, approximately 20% of uncuffed ETTs inserted were one or two sizes smaller in diameter than those predicted for the same age. We may choose the ETT size in reference to an ultrasonographically obtained internal transverse width of the cricoid, stated outer diameter (OD) by the producer, and the actual OD depending on the cuff bulk instead of a tube size calculation in patients with growth retardation.

Therapeutics - Terapéutica

TÍTULO / TITLE:   - Complementary medicines are not always complimentary in Down syndrome.

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REVISTA / JOURNAL:    - J Pediatr. 2018 Oct;201:2. doi: 10.1016/j.jpeds.2018.07.105.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpeds.2018.07.105

AUTORES / AUTHORS: - Fisher PG

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Correction of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A.

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REVISTA / JOURNAL:    - Dis Model Mech. 2018 Aug 16. pii: dmm.035634. doi: 10.1242/dmm.035634.

Enlace a la Editora de la Revista http://dx.doi.org/10.1242/dmm.035634

AUTORES / AUTHORS: - Nguyen TL; ... Herault Y

INSTITUCIÓN / INSTITUTION: - Institut de Genetique et de Biologie Moleculaire et Cellulaire, Department of Translational Medicine and Neurogenetics, Illkirch, France.; 

RESUMEN / SUMMARY: - Growing evidence support the implication of DYRK1A in the development of cognitive deficits seen in Down syndrome (DS) and Alzheimer’s disease (AD). We here demonstrate that pharmacological inhibition of brain DYRK1A is able to correct recognition memory deficits in three DS mouse models with increasing genetic complexity (Tg(Dyrk1a), Ts65Dn, Dp1Yey), all expressing an extra copy of Dyrk1a Overexpressed DYRK1A accumulates in the cytoplasm and at the synapse. Treatment of the three DS models with the pharmacological DYRK1A inhibitor Leucettine L41 leads to normalization of DYRK1A activity and corrects the novel object cognitive impairment observed in these models. Brain functional magnetic resonance imaging reveals that this cognitive improvement is paralleled by functional connectivity remodeling of core brain areas involved in learning/memory processes. The impact of Dyrk1a trisomy and L41 treatment on brain phosphoproteins was investigated by a phosphoproteomics approach, revealing the implication of synaptic (synapsin I) and cytoskeletal components involved in synaptic response and axonal organization. These results encourage the development of DYRK1A inhibitors as drug candidates to treat cognitive deficits associated with DS and AD.

Education - Educación

TÍTULO / TITLE:   - The emergence of multiword utterances in children with Down syndrome.

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REVISTA / JOURNAL:    - Clin Linguist Phon. 2018 Sep 19:1-14. doi: 10.1080/02699206.2018.1521871.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/02699206.2018.1521871

AUTORES / AUTHORS: - Draghi L; Zampini L

INSTITUCIÓN / INSTITUTION: - a Dipartimento di Psicologia , Universita degli Studi di Milano-Bicocca , Milan , Italy. 

RESUMEN / SUMMARY: - Morphosyntax is one of the most impaired aspects of language development in children with Down syndrome. The present study aimed to assess the emergence of multiword utterances in this population. Sixteen Italian-speaking children with Down syndrome were followed from 36 to 48 months of age. Data derived from an analysis of their spontaneous productions showed that although the mean productivity of multiword utterances increased over the three time points (36, 42 and 48 months), different growth patterns of early syntactic development could be identified: (1) null or marginal development; (2) a gradual increase in multiword production over time; (3) an increase in the production of more complex multiword utterances and a decrease or inverted U-shaped profile in the production of simpler multiword productions; (4) an inverted U-shaped profile in multiword productions. In addition, children showed an improvement in their ability to express different semantic functions by word combinations. Significant relationships were found between early syntactic skills and both the child’s vocabulary size and developmental age. A better knowledge of the acquisition pace and content of word combinations could allow more effective rehabilitative treatment during the first steps of children’s syntactic development.

TÍTULO / TITLE:   - How do maternal interaction style and joint attention relate to language development in infants with Down syndrome and typically developing infants?

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REVISTA / JOURNAL:    - Res Dev Disabil. 2018 Sep 21;83:194-205. doi: 10.1016/j.ridd.2018.08.011.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2018.08.011

AUTORES / AUTHORS: - Seager E; et al.

INSTITUCIÓN / INSTITUTION: - School of Psychology and Clinical Language Sciences, Earley Gate, University of Reading, RG6 6AL, United Kingdom. 

RESUMEN / SUMMARY: - Down syndrome (DS) is more detrimental to language acquisition compared to other forms of learning disability. It has been shown that early social communication skills are important for language acquisition in the typical population; however few studies have examined the relationship between early social communication and language in DS. The aim of the current study is to compare the relationship between joint attention and concurrent language skills, and maternal interactive style and concurrent language skills in infants with DS and in typically developing (TD) infants matched for mental age. We also investigated if these relationships differ between children with DS and TD children. Twenty-five infants with DS (17-23 months) and 30 TD infants (9-11 months) were assessed on measures of joint attention, maternal interactive style and language. The results indicated a significant positive relationship between responding to joint attention (RJA) and concurrent language for the DS group, and a significant positive relationship between maternal positive expressed emotion (PEEM) and concurrent language for the TD group. We hypothesise that different social-communication factors are associated with language skills in DS, at least between 17 and 23 months of age compared to TD infants of similar non-verbal and general language abilities.

TÍTULO / TITLE:   - Regular and irregular inflection in down syndrome - New evidence from German.

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REVISTA / JOURNAL:    - Cortex. 2018 Aug 29. pii: S0010-9452(18)30260-0. doi: 10.1016/j.cortex.2018.08.010.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.cortex.2018.08.010

AUTORES / AUTHORS: - Penke M;

INSTITUCIÓN / INSTITUTION: - Department of Rehabilitation and Special Education, University of Cologne, Germany. 

RESUMEN / SUMMARY: - The study aims to explore whether regular inflectional morphology is affected in children/adolescents with Down syndrome (DS). German past participle forms were elicited for ten regular and ten irregular inflected verbs as well as for five novel verbs. Data were collected from a group of 21 monolingual German children and adolescents with DS (chronological age M = 11;03 years) and a group of 21 typically developing monolingual German children (chronological age M = 4;03 years) matched in chronological age to the nonverbal mental age of the DS group (mental age DS group M = 4;05 years). Data analysis indicated that eight children/adolescents with DS displayed a deficit in acquiring the regular participle marker -t and in applying it as default inflection in German participle formation. In contrast, a group of 13 individuals with DS performed similar to the typically developing control children. They had successfully acquired the regular participle affix -t and readily applied it as default inflection to produce participles for irregular verbs and novel verbs. The data indicate that the acquisition of regular inflectional morphology is not outside the scope of individuals with DS and succeeded in many affected individuals. However, a substantial number of individuals with DS displayed a selective deficit with regular default inflection. The occurrence of a selective deficit with regular default inflection in individuals with DS supports dualistic views to inflection, according to which two different cognitive components are involved in regular and irregular inflection that can be selectively affected in language disorders.

TÍTULO / TITLE:   - A Young Man with Trisomy 21 and Sudden Behavioral Changes.

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REVISTA / JOURNAL:    - J Dev Behav Pediatr. 2018 Sep 21. doi: 10.1097/DBP.0000000000000616.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/DBP.0000000000000616

AUTORES / AUTHORS: - Cormier D 2nd; et al

INSTITUCIÓN / INSTITUTION: - Division of Developmental Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA. 

RESUMEN / SUMMARY: - CASE: Grant is a 13-year-old boy with trisomy 21 who presents with his mother for concerns regarding the emergence of several new disruptive behaviors. While he is verbal, he also communicates through an augmentative communication device. He currently attends a residential school. Over the past 2 months, he has begun spitting at the staff, engaging in self-injurious behaviors, placing his hands in his pants, and frequently talking about “pee and poop.” Notably, Grant has undergone several changes to his educational placement and medical health over the past several months. He recently transferred to his current residential school from another placement to be closer to his family, although this has meant that Grant was unable to work with his long-time aide. Additionally, most of the students at Grant’s current school are significantly lower functioning than him, such that Grant is one of the few verbal children.Approximately 3 months ago, Grant underwent significant dental work under anesthesia. Grant had previously taken an alpha-agonist for behavioral management, although he was weaned off this 4 months ago because of increasing somnolence increasing somnolence. Grant’s recent behavioral challenges make performing community and home activities more challenging. Grant’s behavioral history is notable for a previous episode of behavioral and emotional challenges 18 months ago. This occurred in the setting of transitioning to a new classroom with higher academic and behavioral expectations and decreased time spent with his family. These behaviors had consisted of self-injurious behaviors and tantrums consisting of crying and social withdrawal. This was managed by increased behavioral and academic supports via trained teachers and aides, medication management, and optimizing his augmentative communication. After these interventions, Grant’s behavioral and emotional functioning improved and remained stable until this current episode. Grant’s mother is concerned about wh

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