CITAS BIBLIOGRÁFICAS
REFERENCES

Enero - Febrero 2019
January - February 2019


Si desea consultar citas de rastreos anteriores, pulse aquí
If you wish to find citations from previous searches, please click

Aging - Envejecimiento

TÍTULO / TITLE:   - Striking reduction in neurons and glial cells in anterior thalamic nuclei of older patients with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Neurobiol Aging. 2019 Mar;75:54-61. doi: 10.1016/j.neurobiolaging.2018.11.009. Epub 2018 Nov 17.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neurobiolaging.2018.11.009

AUTORES / AUTHORS: - Perry JC; Pakkenberg B; Vann SD

INSTITUCIÓN / INSTITUTION: - School of Psychology, Cardiff University, Cardiff, UK. 

RESUMEN / SUMMARY: - The anterior thalamic nuclei are important for spatial and episodic memory, however, surprisingly little is known about the status of these nuclei in neurological conditions that present with memory impairments, such as Down syndrome. We quantified neurons and glial cells in the anterior thalamic nuclei of four older patients with Down syndrome. There was a striking reduction in the volume of the anterior thalamic nuclei and this appeared to reflect the loss of approximately 70% of neurons. The number of glial cells was also reduced but to a lesser degree than neurons. The anterior thalamic nuclei appear to be particularly sensitive to effects of aging in Down syndrome and the pathology in this region likely contributes to the memory impairments observed. These findings reaffirm the importance of examining the status of the anterior thalamic nuclei in conditions where memory impairments have been principally assigned to pathology in the medial temporal lobe.

TÍTULO / TITLE:   - Tau PET Imaging for Staging of Alzheimer’s Disease in Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Dev Neurobiol. 2018 Dec 8. doi: 10.1002/dneu.22658.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/dneu.22658

AUTORES / AUTHORS: - Rafii MS

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Alzheimer’s disease (AD) pathology and early-onset dementia develop almost universally in Down syndrome (DS). AD is defined neuropathologically by the presence of extracellular plaques of aggregated amyloid beta protein and intracellular neurofibrillary tangles (NFTs) of aggregated hyperphosphorylated tau protein. The development of radiolabeled positron emission tomography (PET) ligands for amyloid plaques and tau tangles enables the longitudinal assessment of the spatial pattern of their accumulation in relation to symptomatology. Recent work indicates that amyloid pathology develops 15-20 years before neurodegeneration and symptom onset in the sporadic and autosomal dominant forms of AD, while tau pathology correlates more closely with symptomatic stages evidenced by cognitive decline and dementia. Recent work on AD biomarkers in DS illustrates similarities between DS and sporadic AD. It may soon be possible to apply recently developed staging classifications to DS to obtain a more nuanced understanding of the development AD in DS and to provide more accurate diagnosis and prognosis in the clinic.

TÍTULO / TITLE:   - Adults with Down syndrome: a comprehensive approach to manage complexity.

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 Jan 9. doi: 10.1111/jir.12588.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12588

AUTORES / AUTHORS: - Carfi A et al.

INSTITUCIÓN / INSTITUTION: - Centro Medicina dell’Invecchiamento, Department of Geriatrics, Universita Cattolica del Sacro Cuore, Rome, Italy. 

RESUMEN / SUMMARY: - Down syndrome (DS) is characterised by premature ageing that affects selected organ systems, and persons with this condition can present patterns of co-morbidities and deficits often observed in the older population without DS. However, information on the characteristics of adult persons with DS is limited. The objective of the study is to describe characteristics of adults with DS collected with a standardised, comprehensive assessment instrument. METHODS: Cross-sectional study. Four hundred thirty adults with DS (age range 18/75 years) from three countries (Italy, n = 95; USA, n = 175; and Canada, n = 160). A standardised assessment instrument (interRAI intellectual disability) was used to assess sample characteristics. RESULTS: Mean age ranged from 35.2 (standard deviation 12.0) years in the US sample to 48.8 (standard deviation 9.0) years in the Canadian sample. Most participants in the Italian and US sample were living in private homes, while more than half of those in the Canadian sample were institutionalised. Prevalences of geriatric conditions, including cognitive deficits, disability in the common activities of daily living, symptoms of withdrawal or anhedonia, aggressive behaviour, communication problems, falls and hearing problems were high in the study sample. Gastrointestinal symptoms, skin and dental problems and obesity were also frequently observed. CONCLUSIONS: Adults with DS present with a high level of complexity, which may suggest the need for an approach based on a comprehensive assessment and management that can provide adequate care. Further research is needed to understand better the effectiveness of such an approach in the DS population.

TÍTULO / TITLE:   - Cognitive markers of preclinical and prodromal Alzheimer’s disease in Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Alzheimers Dement. 2018 Nov 15. pii: S1552-5260(18)33518-0. doi: 10.1016/j.jalz.2018.08.009.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jalz.2018.08.009

AUTORES / AUTHORS: - Startin CM; ... Strydom A

INSTITUCIÓN / INSTITUTION: - Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK; Division of Psychiatry, University College London, London, UK; The LonDownS Consortium, London, 

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with an almost universal development of Alzheimer’s disease. Individuals with DS are therefore an important population for randomized controlled trials to prevent or delay cognitive decline, though it is essential to understand the time course of early cognitive changes. METHODS: We conducted the largest cognitive study to date with 312 adults with DS to assess age-related and Alzheimer’s disease-related cognitive changes during progression from preclinical to prodromal dementia, and prodromal to clinical dementia. RESULTS: Changes in memory and attention measures were most sensitive to early decline. Resulting sample size calculations for randomized controlled trials to detect significant treatment effects to delay decline were modest. DISCUSSION: Our findings address uncertainties around the development of randomized controlled trials to delay cognitive decline in DS. Such trials are essential to reduce the high burden of dementia in people with DS and could serve as proof-of-principle trials for some drug targets.

TÍTULO / TITLE:   - Alzheimer’s disease in Down syndrome: An overlooked population for prevention trials.

Enlace al Resumen

REVISTA / JOURNAL:    - Alzheimers Dement (N Y). 2018 Dec 13;4:703-713. doi: 10.1016/j.trci.2018.10.006. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.trci.2018.10.006

AUTORES / AUTHORS: - Strydom A; ... Fortea J et al

INSTITUCIÓN / INSTITUTION: - Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, Kings College London, London, UK.;  

RESUMEN / SUMMARY: - The discovery that adults with Down syndrome (DS) have neuropathological features identical to individuals with sporadic Alzheimer’s disease (AD) played a key role in the identification of the amyloid precursor protein gene on chromosome 21 and resulted in the amyloid cascade hypothesis. Individuals with DS have a lifetime risk for dementia in excess of 90%, and DS is now acknowledged to be a genetic form of AD similar to rare autosomal-dominant causes. Just as DS put the spotlight on amyloid precursor protein mutations, it is also likely to inform us of the impact of manipulating the amyloid pathway on treatment outcomes in AD. Ironically, however, individuals with DS are usually excluded from AD trials. This review will discuss primary and secondary prevention trials for AD in DS and the potential barriers and solutions to such trials and describe the Europe-wide Horizon21 Consortium to establish a DS-AD prevention clinical trials network.

Dental - Dental

TÍTULO / TITLE:   - Risk factors associated with reported bruxism among children and adolescents with Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Cranio. 2018 Dec 18:1-5. doi: 10.1080/08869634.2018.1557430.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/08869634.2018.1557430

AUTORES / AUTHORS: - Ruy Carneiro NC et ,de Castro Souza I;

INSTITUCIÓN / INSTITUTION: - b Department of Dental Public Health, Faculty of Dentistry , Universidade Federal de Minas Gerais , Belo Horizonte , Brazil. 

RESUMEN / SUMMARY: - Identify factors associated with the prevalence of reported bruxism in children/adolescents with Down Syndrome (DS). METHODS: The study included 112 children/adolescents with DS and their parents/caregivers. Oral habits, pacifier/finger sucking, upper respiratory infections (

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Prevalence and etiology of sensorineural hearing loss in children with down syndrome: A cross-sectional study.

Enlace al Resumen

REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol. 2019 Jan;116:168-172. doi: 10.1016/j.ijporl.2018.10.048. Epub 2018 N

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijporl.2018.10.048

AUTORES / AUTHORS: - De Schrijver L;... Boudewyns A;

INSTITUCIÓN / INSTITUTION: - Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, Belgium 

RESUMEN / SUMMARY: - The prevalence and causes of sensorineural hearing loss (SNHL) in children with Down syndrome (DS) are poorly delineated. OBJECTIVE: To describe the prevalence, severity, laterality and underlying etiology of SNHL in a cohort of children with DS. METHODS: A cross-sectional study was performed among all children with DS followed at the multidisciplinary Downteam of the Antwerp University Hospital. Patients’ characteristics, risk factors for hearing loss, audiometric data and results of an etiological work-up were collected. RESULTS: Among 291 patients in follow-up, 138 patients (47.4%) presented with hearing loss. In the majority this was caused by middle ear effusion and only 13 patients (4.5%) had sensorineural hearing loss, 7 boys and 6 girls with a mean age of 14.4+/-7.4 years. Hearing loss was bilateral in 8 cases. Hearing loss severity was graded as mild in 38.5%, moderate in 30.8% and profound in 30.8% of the patients. An etiological work-up was completed in 9 children. Four patients presented with single sided deafness due to cochlear nerve deficiency. One patient had a genetic cause and in 2 patients the hearing loss was attributed to excessive noise exposure. The etiology of hearing loss was unknown in 6 patients. CONCLUSION: Sensorineural hearing loss is uncommon in children with DS with a prevalence of 4.5%. Etiological work-up may allow identifying a specific underlying cause. Cochlear nerve deficiency was found in 4 children with DS and single sided deafness.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Clinical identification of feeding and swallowing disorders in 0-6 month old infants with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Med Genet A. 2019 Feb;179(2):177-182. doi: 10.1002/ajmg.a.11. Epub 2018 Dec 27.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.11

AUTORES / AUTHORS: - Stanley MA; et al... Roper AJ

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.;  

RESUMEN / SUMMARY: - Feeding and swallowing disorders have been described in children with a variety of neurodevelopmental disabilities, including Down syndrome (DS). Abnormal feeding and swallowing can be associated with serious sequelae such as failure to thrive and respiratory complications, including aspiration pneumonia. Incidence of dysphagia in young infants with DS has not previously been reported. To assess the identification and incidence of feeding and swallowing problems in young infants with DS, a retrospective chart review of 174 infants, ages 0-6 months was conducted at a single specialty clinic. Fifty-seven percent (100/174) of infants had clinical concerns for feeding and swallowing disorders that warranted referral for Videofluroscopic Swallow Study (VFSS); 96/174 (55%) had some degree of oral and/or pharyngeal phase dysphagia and 69/174 (39%) had dysphagia severe enough to warrant recommendation for alteration of breast milk/formula consistency or nonoral feeds. Infants with certain comorbidities had significant risk for significant dysphagia, including those with functional airway/respiratory abnormalities (OR = 7.2). Infants with desaturation with feeds were at dramatically increased risk (OR = 15.8). All young infants with DS should be screened clinically for feeding and swallowing concerns. If concerns are identified, consideration should be given to further evaluation with VFSS for identification of dysphagia and additional feeding modifications.

Epidemiology - Epidemiología

TÍTULO / TITLE:   - Prevalence and risk factors for Down syndrome: A hospital-based single-center study in Western Mexico.

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Med Genet A. 2019 Jan 21. doi: 10.1002/ajmg.a.61044.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.61044

AUTORES / AUTHORS: - Corona-Rivera JR; Martinez-Macias FJ; et al.

INSTITUCIÓN / INSTITUTION: - Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico. 

RESUMEN / SUMMARY: - Although Hispanics of Mexican origin in the United States have been identified as a population with a particularly higher rate of Down syndrome (DS), there is a paucity of studies concerning this topic in Mexico. The aim of this study was to determine the prevalence and risk factors for DS in a population from Western Mexico. For prevalence, 230 liveborn infants with DS were included from a total of 89,332 births occurring during the period 2009-2017 at the Dr. Juan I. Menchaca Civil Hospital of Guadalajara (Mexico). In order to evaluate potential DS risks, a case-control study was conducted among 633 newborns, including those 211 DS patients with full trisomy 21 (cases) and 422 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis. The overall prevalence for DS was 25.7 per 10,000 (95% confidence interval [95% CI]: 22.4-29.1). Patients with DS had a significantly higher risk for family history of DS in distant relatives (adjusted odds ratio [aOR] = 4.4, 95% CI: 2.5-7.7), relatives with thyroid disease (aOR = 2.3, 95% CI: 1.2-4.0), maternal age< /= 19 years (aOR = 5.1, 95% CI: 2.7-9.6) or >/= 35 years (aOR = 3.3, 95% CI: 1.5-6.9), paternal age /= 25 kg/m(2) (aOR = 1.6, 95% CI: 1.0-2.4), and pre-pregnancy alcohol consumption (aOR = 1.8, 95% CI: 1.1-2.9). The identified risks in family history, and previously mentioned nutritional disadvantages were associated with DS in our sample and probably also to its increased prevalence in our population.

TÍTULO / TITLE:   - Diagnostic algorithm of Down syndrome by minor physical anomaly.

Enlace al Resumen

REVISTA / JOURNAL:    - Indian J Psychiatry. 2018 Oct-Dec;60(4):398-403. doi: 10.4103/psychiatry.IndianJPsychiatry_401_17.

Enlace a la Editora de la Revista http://dx.doi.org/10.4103/psychiatry.IndianJPsychiatry_401_17

AUTORES / AUTHORS: - Bhattacharyya R; et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry, Murshidabad Medical College and Hospital, Berhampore, West Bengal, India. 

RESUMEN / SUMMARY: - Down syndrome, most common chromosomal abnormality leading to intellectual disability is being diagnosed by Karyotyping. Due to cost constraints, parents couldn’t afford to do Karyotyping which causes delay in individual and family interventions. Introduction: Down syndrome has characteristic morphological features. The minor physical anomaly (MPA) are insults which occur in utero during embryonic development mostly in first and early second trimester and persists throughout life. Material and Methods: 70 karyotyping confirmed cases of Down syndrome (DS), 70 other causes of intellectual disabilities (Other ID) and 70 age matched normal children and adolescents (Average) have been incorporated in the study. The Modified Waldrop’s scale (Ismail’s 41 item scale) have been applied. Demographic comparison and Decision tree algorithm approach have been analysed by SPSS 25 version. Results and Discussion: The paternal age of childbirth, maternal age of childbirth, maternal age of marriage (P < 0.001), income (P = 0.026) variables are statistically significant in Down’s syndrome group in comparison to other two groups whereas age and birth order are not statistically significant. DS group has more MPA (m = 17.04, SD = 5.462), than other ID (m = 5.93, SD = 2.628) and Average group (m = 1.59, SD = 1.378). Big sandal gap, high arched palate and epicanthus are most common three minor anomalies found in Down syndrome. Region wise scoring shows high significance (P < 0.001) in Global head, eyes, ears, mouth, hands and feet in Down syndrome group. The four anomalies; epicanthus, telecanthus, high-arched palate, and curved fifth finger) thus can be grouped as differentiating anomalies. When clinodactyly (item 27) and high arched palate (item 21) are present together or epicanthus (item 08) and telecanthus (item 09) present together sensitivity of diagnosing the case as Down syndrome is 0.945 with negative predictive value 0.979. Conclusion: The simian crease which is being consider

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Clinical identification of feeding and swallowing disorders in 0-6 month old infants with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Med Genet A. 2019 Feb;179(2):177-182. doi: 10.1002/ajmg.a.11. Epub 2018 Dec 27.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.11

AUTORES / AUTHORS: - Stanley MA; et al... Roper AJ

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.;  

RESUMEN / SUMMARY: - Feeding and swallowing disorders have been described in children with a variety of neurodevelopmental disabilities, including Down syndrome (DS). Abnormal feeding and swallowing can be associated with serious sequelae such as failure to thrive and respiratory complications, including aspiration pneumonia. Incidence of dysphagia in young infants with DS has not previously been reported. To assess the identification and incidence of feeding and swallowing problems in young infants with DS, a retrospective chart review of 174 infants, ages 0-6 months was conducted at a single specialty clinic. Fifty-seven percent (100/174) of infants had clinical concerns for feeding and swallowing disorders that warranted referral for Videofluroscopic Swallow Study (VFSS); 96/174 (55%) had some degree of oral and/or pharyngeal phase dysphagia and 69/174 (39%) had dysphagia severe enough to warrant recommendation for alteration of breast milk/formula consistency or nonoral feeds. Infants with certain comorbidities had significant risk for significant dysphagia, including those with functional airway/respiratory abnormalities (OR = 7.2). Infants with desaturation with feeds were at dramatically increased risk (OR = 15.8). All young infants with DS should be screened clinically for feeding and swallowing concerns. If concerns are identified, consideration should be given to further evaluation with VFSS for identification of dysphagia and additional feeding modifications.

TÍTULO / TITLE:   - Down Syndrome and Postoperative Complications in Children Undergoing Intestinal Operations.

Enlace al Resumen

REVISTA / JOURNAL:    - J Pediatr Surg. 2018 Dec 13. pii: S0022-3468(18)30789-9. doi: 10.1016/j.jpedsurg.2018.11.013.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpedsurg.2018.11.013

AUTORES / AUTHORS: - Cairo SB; et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Surgery, John R. Oishei Children’s Hospital, Buffalo, NY. 

RESUMEN / SUMMARY: - This paper intends to evaluate the association between Down Syndrome (DS) and postoperative medical and surgical complications and inpatient postoperative mortality in pediatric patients undergoing intestinal operations. METHODS: The 2012 Kids’ Inpatient Database was queried to compare short-term postoperative medical and surgical complications and in-patient mortality among patients with DS undergoing intestinal operations to a cohort without DS using inverse probability weighting. Subset analysis was performed for patients undergoing intestinal operations exclusive of gastrostomy placement. Adverse treatment effects were calculated for the outcomes of interest. RESULTS: Of 17,026 pediatric patients undergoing intestinal operations, 444 had DS. In unadjusted analysis, medical complications (urinary tract infection, deep venous thrombosis, sepsis, pneumonia) occurred in 7.9% of patients with DS, compared to 14.1% of those without (p<0.001). Surgical complications (wound disruption, hemorrhage, superficial or deep wound infection) occurred in 3.5% of patients with DS, compared to 4.6% of those without (p=0.34), and in-patient mortality occurred in 0.3% of patients with DS, compared to 2.7% of those without (p=0.009). Adverse treatment effects (ATE) calculated after inverse probability weighting demonstrated no difference for medical or surgical complications but a significantly decreased mortality with DS. CONCLUSIONS: Contrary to common perception and data extrapolated from the adult literature, pediatric patients with DS have neither higher medical nor surgical complication rates after intestinal operations. Similar to patients undergoing congenital heart surgery, pediatric patients with DS have a lower postoperative inpatient mortality after these general operations compared to those without DS. Mechanisms influencing risks in DS patient remain unknown.

Genetics - Genética

TÍTULO / TITLE:   - Plasmid-based gap-repair recombineered transgenes reveal a central role for introns in mutually exclusive

Enlace al Resumen

REVISTA / JOURNAL:    - Nucleic Acids Res. 2018 Dec 12. pii: 5239037. doi: 10.1093/nar/gky1254.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/nar/gky1254

AUTORES / AUTHORS: - Haussmann IU; et al

INSTITUCIÓN / INSTITUTION: - School of Biosciences, College of Life and Environmental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK. 

RESUMEN / SUMMARY: - Alternative splicing is a key feature of human genes, yet studying its regulation is often complicated by large introns. The Down Syndrome Cell Adhesion Molecule (Dscam) gene from Drosophila is one of the most complex genes generating vast molecular diversity by mutually exclusive alternative splicing. To resolve how alternative splicing in Dscam is regulated, we first developed plasmid-based UAS reporter genes for the Dscam variable exon 4 cluster and show that its alternative splicing is recapitulated by GAL4-mediated expression in neurons. We then developed gap-repair recombineering to very efficiently manipulate these large reporter plasmids in Escherichia coli using restriction enzymes or sgRNA/Cas9 DNA scission to capitalize on the many benefits of plasmids in phiC31 integrase-mediated transgenesis. Using these novel tools, we show that inclusion of Dscam exon 4 variables differs little in development and individual flies, and is robustly determined by sequences harbored in variable exons. We further show that introns drive selection of both proximal and distal variable exons. Since exon 4 cluster introns lack conserved sequences that could mediate robust long-range base-pairing to bring exons into proximity for splicing, our data argue for a central role of introns in mutually exclusive alternative splicing of Dscam exon 4 cluster.

TÍTULO / TITLE:   - The Association of rs1670533 Polymorphism in RNF212 Gene With the Risk of Down Syndrome in Young Women.

Enlace al Resumen

REVISTA / JOURNAL:    - J Family Reprod Health. 2018 Mar;12(1):18-22.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Davari-Tanha F; et al.

INSTITUCIÓN / INSTITUTION: - Department of OBS & GYN, Yas Hospital, Tehran University of Medical Sciences, Tehran, Iran. 

RESUMEN / SUMMARY: - To evaluate association between polymorphism rs1670533 in RNF212 gene with the risk of Down syndrome in young women. Materials and methods: In a case control study, one hundred pregnant women were evaluated in both group. The case group consisted pregnancy with diagnosis of Down syndrome in women younger than 35 years old. The control group consisted pregnancy with normal neonate. Fifty pregnant women in each group were allocated.one hundred blood samples were collected. Genomic DNA was extracted by salting - out method and polymorphism of rs1670533 were detected by PCR.PCR products were detected on 2% agarose gel electrophoresis. Results: The TTrs1670533 haplotype was present in 36% of pregnant women with Down syndrome versus 14% of normal pregnant women, (p = 0.003 e-12; CI 95%1.665-5.305, OR = 3.107); TC haplotype was present in 56% of normal pregnancy regarding of16% of pregnancy with Down syndrome (p = 4.288 e = 12; CI 95%: 0.145-0.25; OR = 0.126). Conclusion: It seems that TTrs1670533 haplotype is a risk factor for pregnancy with Down syndrome in young women and TC haplotype has protective effect.

TÍTULO / TITLE:   - Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

Enlace al Resumen

REVISTA / JOURNAL:    - Mol Cytogenet. 2018 Dec 29;11:62. doi: 10.1186/s13039-018-0410-4. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13039-018-0410-4

AUTORES / AUTHORS: - Schnabel F et al

INSTITUCIÓN / INSTITUTION: - 1Institute of Human Genetics, University Medical Center, Heinrich-Duker-Weg 12, 37073 Gottingen, Germany.0000 0001 0482 5331grid.411984.1 

RESUMEN / SUMMARY: - Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported. Case presentation: Here we report a 5(1/2)-year-old boy with clinical features of Down syndrome including distinct craniofacial dysmorphism and sandal gaps as well as developmental delay. Conventional karyotype was normal, whereas interphase FISH analysis revealed three signals for DSCR in approximately 40% of lymphocytes and 80% of buccal mucosa cells. Array-CGH analysis confirmed a 2.56 Mb duplication of chromosome 21q22.13q22.2 encompassing DYRK1A. Conclusion: This presents one of the smallest duplications within DSCR leading to a Down syndrome phenotype. Since the dosage sensitive gene DYRK1A is the only duplicated candidate DSCR gene in our patient, this finding supports the hypothesis that DYRK1A contributes to dysmorphic and intellectual features of Down syndrome even in a mosaic state.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Growth curves for French people with Down syndrome from birth to 20 years of age. LINK: Link to its Abstract

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Med Genet A. 2018 Dec;176(12):2685-2694. doi: 10.1002/ajmg.a.40639. Epub 2018 Dec 20.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.40639

AUTORES / AUTHORS: - Mircher C et al

INSTITUCIÓN / INSTITUTION: - Jerome Lejeune Institute, Paris, France. 

RESUMEN / SUMMARY: - We present new and complete growth charts for 2,598 healthy French children and adolescents with Down syndrome (DS) from 0 to 20 years old, obtained with highly reliable statistical methods. This study is retrospective and addresses data collected over a period of 12 years, monocentric and with a satisfactory representation of the population nationwide. Final occipito-frontal circumference (OFC) is at the fifth percentile compared to WHO charts, with a drop between 12 and 18 months. Final height is at the first percentile compared to WHO charts for girls and boys with two periods of reduced growth velocity: before 36 months and around puberty. We observed no pubertal growth peak for girls. For boys, pubertal growth peak showed to happen earlier and to be less significant than in the general population. When compared to a previous French study with people affected with DS, pubertal growth acceleration begins at a later age for girls and boys; girls in our study are taller at age 15 (+5 cm), but there is no difference for boys at this age. Overweight is more frequent compared to the typical French population. Mean body mass index (BMI) rises rapidly above the 75th percentile of typical French children as early as age 4, with an earlier age for precocious adiposity rebound. The second period for rapid increase of BMI is around 14 years old. When compared to a previous French study with DS, we did not observe any BMI increase, at least up to the age of 14.

TÍTULO / TITLE:   - Parents’ perceptions of functional abilities in people with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Med Genet A. 2019 Feb;179(2):161-176. doi: 10.1002/ajmg.a.61004. Epub 2018 Dec 24.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.61004

AUTORES / AUTHORS: - de Graaf G, Levine SP Goldstein R Skotko BG

INSTITUCIÓN / INSTITUTION: - Family Resource Associates, Inc., Shrewsbury, New Jersey. 

RESUMEN / SUMMARY: - A realistic assessment of the range of functional abilities found in people with Down syndrome (DS) may assist in counseling expectant parents. This study asked parents from the United States and the Netherlands to assess 11 functional skills of their sons and daughters with DS: walking, eating, speaking, grooming/personal hygiene, reading, writing, preparing meals, working at a job, going on dates, traveling independently, and living independently. We analyzed responses from 2,658 parents who have sons/daughters with DS of all ages. The majority of people with DS in the United States could walk by 25 months of age, speak reasonably well by 12 years, maintain their own personal hygiene by 13 years, and work independently by 20 years. By 31 years of age, 49% were reading reasonably well, and 46% were writing reasonably well. Approximately 30% could travel independently, and 34% were living independently. The results from parents in the Netherlands were similar for most measures. This normative data on function may contribute to anticipatory guidance and decision-making. Furthermore, as parents and clinicians seek to assess the relative strengths and weakness of people with DS, resources and supports can be marshaled for those not meeting milestones at expected times.

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5-methyl-tetrahydrofolate and 5-formyl-tetrahydrofolate.

Enlace al Resumen

REVISTA / JOURNAL:    - J Cell Physiol. 2019 Jan 22. doi: 10.1002/jcp.28140.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/jcp.28140

AUTORES / AUTHORS: - Vitale L; et al

INSTITUCIÓN / INSTITUTION: - Unit of Histology, Embryology and Applied Biology, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy. 

RESUMEN / SUMMARY: - Trisomy 21 causes Down syndrome (DS), the most common human genetic disorder and the leading genetic cause of intellectual disability. The alteration of one-carbon metabolism was described as the possible metabolic cause of the intellectual disability development in subjects with DS. One of the biochemical pathways involved in the one-carbon group transfer is the folate cycle. The cytotoxic drug methotrexate (MTX) is a folic acid (FA) analogue which inhibits the activity of dihydrofolate reductase enzyme involved in the one-carbon metabolic cycle. Trisomy 21 cells are more sensitive to the MTX effect than euploid cells, and in 1986 Jerome Lejeune and Coll. demonstrated that MTX was twice as toxic in trisomy 21 lymphocytes than in control cells. In the present work, the rescue effect on MTX toxicity mediated by FA and some of its derivatives, tetrahydrofolate (THF), 5-formyl-THF, and 5-methyl-THF, in both normal and trisomy 21 skin fibroblast cells, was evaluated. A statistically significant rescue effect was obtained by 5-formyl-THF, 5-methyl-THF, and their combination, administered together with MTX. In conclusion, trisomy 21 fibroblast cell lines showed a good response to the rescue effects of 5-formyl-THF and 5-methyl-THF on the MTX toxicity almost as normal cell lines.

TÍTULO / TITLE:   - Leukemia in Down Syndrome Children Based on National Estimates.

Enlace al Resumen

REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2018 Nov 28. doi: 10.1097/MPH.0000000000001372.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000001372

AUTORES / AUTHORS: - Ramphul K; et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Shanghai Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Trisomy silencing by XIST normalizes Down syndrome cell pathogenesis demonstrated for hematopoietic defects in vitro.

Enlace al Resumen

REVISTA / JOURNAL:    - Nat Commun. 2018 Dec 5;9(1):5180. doi: 10.1038/s41467-018-07630-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41467-018-07630-y

AUTORES / AUTHORS: - Chiang JC; ... Lawrence JB;

INSTITUCIÓN / INSTITUTION: - Department of Neurology and Pediatrics, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA, 01655, USA. 

RESUMEN / SUMMARY: - We previously demonstrated that an integrated XIST transgene can broadly repress one chromosome 21 in Down syndrome (DS) pluripotent cells. Here we address whether trisomy-silencing can normalize cell function and development sufficiently to correct cell pathogenesis, tested in an in vitro model of human fetal hematopoiesis, for which DS cellular phenotypes are best known. XIST induction in four transgenic clones reproducibly corrected over-production of megakaryocytes and erythrocytes, key to DS myeloproliferative disorder and leukemia. A contrasting increase in neural stem and iPS cells shows cell-type specificity, supporting this approach successfully rebalances the hematopoietic developmental program. Given this, we next used this system to extend knowledge of hematopoietic pathogenesis on multiple points. Results demonstrate trisomy 21 expression promotes over-production of CD43(+) but not earlier CD34(+)/CD43(-)progenitors and indicates this is associated with increased IGF signaling. This study demonstrates proof-of-principle for this epigenetic-based strategy to investigate, and potentially mitigate, DS developmental pathologies.

TÍTULO / TITLE:   - The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System.

Enlace al Resumen

REVISTA / JOURNAL:    - Front Immunol. 2018 Dec 19;9:3058. doi: 10.3389/fimmu.2018.03058. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fimmu.2018.03058

AUTORES / AUTHORS: - Satge D; Seidel MG;

INSTITUCIÓN / INSTITUTION: - Laboratoire Biostatistiques Epidemiologie Sante Publique, Team Cancer (EA 2415), and Oncodefi, Institut Universitaire de Recherche Clinique, Montpellier, France. 

RESUMEN / SUMMARY: - The immune surveillance theory of cancer posits that the body’s immune system detects and destroys randomly occurring malignant cells. This theory is based on the observation of the increased frequency of malignancies in primary and secondary immunodeficiencies, and is supported by the successful demonstration of immune augmentation in current oncological immune therapy approaches. We review this model in the context of Down syndrome (DS), a condition with a unique tumor profile and various immune defects. Children and adults with DS are more prone to infections due to anatomical reasons and a varying degree of T- and B-cell maturation defects, NK cell dysfunction, and chemotactic or phagocytic abnormalities. However, despite an increased incidence of lymphoblastic and myeloblastic leukemia of infants and children with DS, individuals with DS have a globally decreased incidence of solid tumors as compared to age-adjusted non-DS controls. Additionally, cancers that have been considered “proof of immune therapy principles,” such as renal carcinoma, small cell lung carcinoma, and malignant melanoma, are less frequent in adults with DS compared to the general population. Thus, despite the combination of an increased risk of leukemia with detectable immune biological abnormalities and a clinical immunodeficiency, people with DS appear to be protected against many cancers. This observation does not support the immune surveillance theory in the context of DS and indicates a potential tumor-suppressive role for trisomy 21 in non-hematological malignancies.

TÍTULO / TITLE:   - The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System.

Enlace al Resumen

REVISTA / JOURNAL:    - Front Immunol. 2018 Dec 19;9:3058. doi: 10.3389/fimmu.2018.03058. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fimmu.2018.03058

AUTORES / AUTHORS: - Satge D; Seidel MG;

INSTITUCIÓN / INSTITUTION: - Laboratoire Biostatistiques Epidemiologie Sante Publique, Team Cancer (EA 2415), and Oncodefi, Institut Universitaire de Recherche Clinique, Montpellier, France. 

RESUMEN / SUMMARY: - The immune surveillance theory of cancer posits that the body’s immune system detects and destroys randomly occurring malignant cells. This theory is based on the observation of the increased frequency of malignancies in primary and secondary immunodeficiencies, and is supported by the successful demonstration of immune augmentation in current oncological immune therapy approaches. We review this model in the context of Down syndrome (DS), a condition with a unique tumor profile and various immune defects. Children and adults with DS are more prone to infections due to anatomical reasons and a varying degree of T- and B-cell maturation defects, NK cell dysfunction, and chemotactic or phagocytic abnormalities. However, despite an increased incidence of lymphoblastic and myeloblastic leukemia of infants and children with DS, individuals with DS have a globally decreased incidence of solid tumors as compared to age-adjusted non-DS controls. Additionally, cancers that have been considered “proof of immune therapy principles,” such as renal carcinoma, small cell lung carcinoma, and malignant melanoma, are less frequent in adults with DS compared to the general population. Thus, despite the combination of an increased risk of leukemia with detectable immune biological abnormalities and a clinical immunodeficiency, people with DS appear to be protected against many cancers. This observation does not support the immune surveillance theory in the context of DS and indicates a potential tumor-suppressive role for trisomy 21 in non-hematological malignancies.

Inmunology - Inmunología

TÍTULO / TITLE:   - Dysregulated miR-155 and miR-125b Are Related to Impaired B-cell Responses in Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Front Immunol. 2018 Nov 20;9:2683. doi: 10.3389/fimmu.2018.02683. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fimmu.2018.02683

AUTORES / AUTHORS: - Farroni C; et al.

INSTITUCIÓN / INSTITUTION: - B cell Pathophysiology Unit, Immunology Research Area, Bambino Gesu Children’s Hospital, IRCCS, Rome, Italy. 

RESUMEN / SUMMARY: - Children with Down Syndrome (DS) suffer from immune deficiency with a severe reduction in switched memory B cells (MBCs) and poor response to vaccination. Chromosome 21 (HSA21) encodes two microRNAs (miRs), miR-125b, and miR-155, that regulate B-cell responses. We studied B- and T- cell subpopulations in tonsils of DS and age-matched healthy donors (HD) and found that the germinal center (GC) reaction was impaired in DS. GC size, numbers of GC B cells and Follicular Helper T cells (TFH) expressing BCL6 cells were severely reduced. The expression of miR-155 and miR-125b was increased in tonsillar memory B cells and miR-125b was also higher than expected in plasma cells (PCs). Activation-induced cytidine deaminase (AID) protein, a miR-155 target, was significantly reduced in MBCs of DS patients. Increased expression of miR-155 was also observed in vitro. MiR-155 was significantly overexpressed in PBMCs activated with CpG, whereas miR-125b was constitutively higher than normal. The increase of miR-155 and its functional consequences were blocked by antagomiRs in vitro. Our data show that the expression of HSA21-encoded miR-155 and miR-125b is altered in B cells of DS individuals both in vivo and in vitro. Because of HSA21-encoded miRs may play a role also in DS-associated dementia and leukemia, our study suggests that antagomiRs may represent pharmacological tools useful for the treatment of DS.

TÍTULO / TITLE:   - The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System.

Enlace al Resumen

REVISTA / JOURNAL:    - Front Immunol. 2018 Dec 19;9:3058. doi: 10.3389/fimmu.2018.03058. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fimmu.2018.03058

AUTORES / AUTHORS: - Satge D; Seidel MG;

INSTITUCIÓN / INSTITUTION: - Laboratoire Biostatistiques Epidemiologie Sante Publique, Team Cancer (EA 2415), and Oncodefi, Institut Universitaire de Recherche Clinique, Montpellier, France; Institut Universitaire de Recherche Clinique,  

RESUMEN / SUMMARY: - The immune surveillance theory of cancer posits that the body’s immune system detects and destroys randomly occurring malignant cells. This theory is based on the observation of the increased frequency of malignancies in primary and secondary immunodeficiencies, and is supported by the successful demonstration of immune augmentation in current oncological immune therapy approaches. We review this model in the context of Down syndrome (DS), a condition with a unique tumor profile and various immune defects. Children and adults with DS are more prone to infections due to anatomical reasons and a varying degree of T- and B-cell maturation defects, NK cell dysfunction, and chemotactic or phagocytic abnormalities. However, despite an increased incidence of lymphoblastic and myeloblastic leukemia of infants and children with DS, individuals with DS have a globally decreased incidence of solid tumors as compared to age-adjusted non-DS controls. Additionally, cancers that have been considered “proof of immune therapy principles,” such as renal carcinoma, small cell lung carcinoma, and malignant melanoma, are less frequent in adults with DS compared to the general population. Thus, despite the combination of an increased risk of leukemia with detectable immune biological abnormalities and a clinical immunodeficiency, people with DS appear to be protected against many cancers. This observation does not support the immune surveillance theory in the context of DS and indicates a potential tumor-suppressive role for trisomy 21 in non-hematological malignancies.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - Lymphocyte subgroups and recurrent infections in children with Down syndrome - a prospective case control study.

Enlace al Resumen

REVISTA / JOURNAL:    - Cent Eur J Immunol. 2018;43(3):248-254. doi: 10.5114/ceji.2018.80042. Epub 2018 Oct 30.

Enlace a la Editora de la Revista http://dx.doi.org/10.5114/ceji.2018.80042

AUTORES / AUTHORS: - Mitwalli M; et al

INSTITUCIÓN / INSTITUTION: - Paediatrics Department, Genetic Unit, Faculty of Medicine, Mansoura University, Egypt. 

RESUMEN / SUMMARY: - Down syndrome (DS) is the commonest genetic disorder and more liable for recurrent infections. We aimed to determine the differences in lymphocyte subgroups between DS children and the healthy population and to study the pattern and likelihood for recurrent infections and hospital admission due to infection. Our study was carried out in the Genetic Unit of Mansoura University Children’s Hospital, Egypt. The study enrolled 150 DS (DS group) and 100 controls (CG group). They were assessed for recurrent infections (including tonsillitis, otitis media [OM], pneumonia, upper respiratory tract infections [URTI], sinusitis, and gastroenteritis [GE]) and hospital admission due to infections. All patients were subjected to complete blood count and flow cytometric analysis for expression markers of B lymphocytes (CD19), natural killer (NK) cells (CD56), and T lymphocytes (CD3, CD4 and CD8). We found a statistically significant increase in the frequency of URTIs and sinusitis, OM, pneumonia, and hospital admission in the DS group. As regards the type of recurrent infection in DS, it was highest for URTIs and sinusitis. For age groups below 13 years, a statistically significant decrease in all studied CD markers was found in the DS group, while for the 13-18-year-olds, a statistically significant decrease was found in CD4, CD19, and CD56 in the DS group. Non-significant correlations were found between CD markers and recurrent infection and hospital admission. We concluded that lymphocyte subgroups that carry CD3, CD4, CD8, CD19, and CD56 were decreased in DS. Recurrent infections and hospital admission are still striking feature for DS but are not significantly correlated with lymphocyte subgroups.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - Copper accumulation in the brain causes the elevation of oxidative stress and less anxious behavior in Ts1Cje mice, a model of Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Free Radic Biol Med. 2019 Jan 18;134:248-259. doi: 10.1016/j.freeradbiomed.2019.01.015.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.freeradbiomed.2019.01.015

AUTORES / AUTHORS: - Ishihara K; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pathological Biochemistry, Division of Pathological Sciences, Kyoto Pharmaceutical University, 5 Misasagi Nakauchi-cho, Yamashina-ku, Kyoto-shi, Kyoto 607-8414, Japan. 

RESUMEN / SUMMARY: - Elevated oxidative stress (OS) is widely accepted to be involved in the pathogenesis of Down syndrome (DS). However, the mechanisms underlying the elevation of OS in DS are poorly understood. Biometals, in particular copper and iron, play roles in OS. We therefore focused on biometals in the brain with DS. In this study, we analyzed the profile of elements, including biometals, in the brain of Ts1Cje mice, a widely used genetic model of DS. An inductively coupled plasma-mass spectrometry (ICP-MS)-based comparative metallomic/elementomic analysis of Ts1Cje mouse brain revealed a higher level of copper in the hippocampus and cerebral cortex, but not in the striatum, in comparison to wild-type littermates. The expression of the copper transporter CTR1, which is involved in the transport of copper into cells, was decreased in the ependymal cells of Ts1Cje mice, suggesting a decrease in the CTR1-mediated transport of copper into the ependymal cells, which excrete copper into the cerebrospinal fluid. To evaluate the pathological significance of the accumulation of copper in the brain of Ts1Cje mice, we examined the effects of a diet with a low copper content (LoCD) on the elevated lipid peroxidation, the accumulation of hyperphosphorylated tau, and some behavioral anomalies. Reducing the copper concentration in the brain by an LoCD restored the enhanced lipid peroxidation and phosphorylation of tau in the brain and reduced anxiety-like behavior, but not hyperactivity or impaired spatial leaning, in Ts1Cje mice. The findings highlight the reduction of accumulation of copper in the brain may be a novel therapeutic strategy for DS.

TÍTULO / TITLE:   - Trisomy silencing by XIST normalizes Down syndrome cell pathogenesis demonstrated for hematopoietic defects in vitro.

Enlace al Resumen

REVISTA / JOURNAL:    - Nat Commun. 2018 Dec 5;9(1):5180. doi: 10.1038/s41467-018-07630-y.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41467-018-07630-y

AUTORES / AUTHORS: - Chiang JC; ... Lawrence JB;

INSTITUCIÓN / INSTITUTION: - Department of Neurology and Pediatrics, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA, 01655, USA. 

RESUMEN / SUMMARY: - We previously demonstrated that an integrated XIST transgene can broadly repress one chromosome 21 in Down syndrome (DS) pluripotent cells. Here we address whether trisomy-silencing can normalize cell function and development sufficiently to correct cell pathogenesis, tested in an in vitro model of human fetal hematopoiesis, for which DS cellular phenotypes are best known. XIST induction in four transgenic clones reproducibly corrected over-production of megakaryocytes and erythrocytes, key to DS myeloproliferative disorder and leukemia. A contrasting increase in neural stem and iPS cells shows cell-type specificity, supporting this approach successfully rebalances the hematopoietic developmental program. Given this, we next used this system to extend knowledge of hematopoietic pathogenesis on multiple points. Results demonstrate trisomy 21 expression promotes over-production of CD43(+) but not earlier CD34(+)/CD43(-)progenitors and indicates this is associated with increased IGF signaling. This study demonstrates proof-of-principle for this epigenetic-based strategy to investigate, and potentially mitigate, DS developmental pathologies.

TÍTULO / TITLE:   - A single extra copy of Down syndrome critical region 1-4 results in impaired hepatic glucose homeostasis.

Enlace al Resumen

REVISTA / JOURNAL:    - Mol Metab. 2018 Dec 5. pii: S2212-8778(18)31068-8. doi: 10.1016/j.molmet.2018.12.002.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.molmet.2018.12.002

AUTORES / AUTHORS: - Seo DS; ... Um SH;

INSTITUCIÓN / INSTITUTION: - Department of Molecular Cell Biology, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Suwon, Gyeonggi-do, 16419, South Korea; Department of Health Sciences and Technology, Samsung Advanced Institute for He 

RESUMEN / SUMMARY: - During fasting, hepatic gluconeogenesis is induced to maintain energy homeostasis. Moreover, abnormal dysregulation of hepatic glucose production is commonly observed in type 2 diabetes. However, the signaling components controlling hepatic glucose production to maintain normal glucose levels are not fully understood. Here, we examined the physiological role of Down syndrome critical region 1-4 (DSCR1-4), an endogenous calcineurin signaling inhibitor in the liver that mediates metabolic adaptation to fasting. METHODS: We assessed the effect of cyclosporine A, an inhibitor of calcineurin signaling on gluconeogenic gene expression in primary hepatocytes. DSCR1-4 expression was examined in diet- and genetically-induced mouse models of obesity. We also investigated the metabolic phenotype of a single extra copy of DSCR1-4 in transgenic mice and how DSCR1-4 regulates glucose homeostasis in the liver. RESULTS: Treatment with cyclosporin A increased hepatic glucose production and gluconeogenic gene expression. The expression of DSCR1-4 was induced by refeeding and overexpressed in obese mouse livers. Moreover, transgenic mice with a single extra copy of DSCR1-4 exhibited pyruvate intolerance and impaired glucose homeostasis. Mechanistically, DSCR1-4 overexpression increased phosphorylation of the cAMP response element-binding protein, which led to elevated expression levels of gluconeogenic genes and, thus, enhanced hepatic glucose production during fasting. CONCLUSION: A single extra copy of DSCR1-4 results in dysregulated hepatic glucose homeostasis and pyruvate intolerance. Our findings suggest that nutrient-sensitive DSCR1-4 is a novel target for controlling hepatic gluconeogenesis in diabetes.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a.

Enlace al Resumen

REVISTA / JOURNAL:    - Hum Mol Genet. 2019 Jan 10. pii: 5288100. doi: 10.1093/hmg/ddy447.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/hmg/ddy447

AUTORES / AUTHORS: - Marechal D; et al

INSTITUCIÓN / INSTITUTION: - Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch, 1 rue Laurent Fries, 67404 Illkirch, France. 

RESUMEN / SUMMARY: - Identifying dosage-sensitive genes is a key to understand the mechanisms underlying intellectual disability in Down syndrome (DS). The Dp(17Abcg1-Cbs)1Yah DS mouse model (Dp1Yah) shows cognitive phenotypes that need to be investigated to identify the main genetic driver. Here, we report that three copies of the cystathionine-beta-synthase gene (Cbs) in the Dp1Yah mice are necessary to observe a deficit in the novel object recognition (NOR) paradigm. Moreover, the overexpression of Cbs alone is sufficient to induce deficits in the NOR test. Accordingly, overexpressing human CBS specifically in Camk2a-expressing neurons leads to impaired objects discrimination. Altogether, this shows that Cbs overdosage is involved in DS learning and memory phenotypes. To go further, we identified compounds that interfere with the phenotypical consequence of CBS overdosage in yeast. Pharmacological intervention in Tg(CBS) mice with one selected compound restored memory in the NOR test. In addition, using a genetic approach, we demonstrated an epistatic interaction between Cbs and Dyrk1a, another human chromosome 21-located gene (which encodes the dual-specificity tyrosine phosphorylation-regulated kinase 1a) and an already known target for DS therapeutic intervention. Further analysis using proteomic approaches highlighted several molecular pathways, including synaptic transmission, cell projection morphogenesis and actin cytoskeleton, that are affected by DYRK1A and CBS overexpression. Overall, we demonstrated that CBS overdosage underpins the DS-related recognition memory deficit and that both CBS and DYRK1A interact to control accurate memory processes in DS. In addition, our study establishes CBS as an intervention point for treating intellectual deficiencies linked to DS.

TÍTULO / TITLE:   - Cannabinoid type-1 receptor blockade restores neurological phenotypes in two models for Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Neurobiol Dis. 2019 Jan 25;125:92-106. doi: 10.1016/j.nbd.2019.01.014.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.nbd.2019.01.014

AUTORES / AUTHORS: - Navarro-Romero A; et al

INSTITUCIÓN / INSTITUTION: - Laboratory of Neuropharmacology-NeuroPhar, Department of Experimental and Health Sciences, University Pompeu Fabra, 08003 Barcelona, España. 

RESUMEN / SUMMARY: - Intellectual disability is the most limiting hallmark of Down syndrome, for which there is no gold-standard clinical treatment yet. The endocannabinoid system is a widespread neuromodulatory system involved in multiple functions including learning and memory processes. Alterations of this system contribute to the pathogenesis of several neurological and neurodevelopmental disorders. However, the involvement of the endocannabinoid system in the pathogenesis of Down syndrome has not been explored before. We used the best-characterized preclinical model of Down syndrome, the segmentally trisomic Ts65Dn model. In male Ts65Dn mice, cannabinoid type-1 receptor (CB1R) expression was enhanced and its function increased in hippocampal excitatory terminals. Knockdown of CB1R in the hippocampus of male Ts65Dn mice restored hippocampal-dependent memory. Concomitant with this result, pharmacological inhibition of CB1R restored memory deficits, hippocampal synaptic plasticity and adult neurogenesis in the subgranular zone of the dentate gyrus. Notably, the blockade of CB1R also normalized hippocampal-dependent memory in female Ts65Dn mice. To further investigate the mechanisms involved, we used a second transgenic mouse model overexpressing a single gene candidate for Down syndrome cognitive phenotypes, the dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A). CB1R pharmacological blockade similarly improved cognitive performance, synaptic plasticity and neurogenesis in transgenic male Dyrk1A mice. Our results identify CB1R as a novel druggable target potentially relevant for the improvement of cognitive deficits associated with Down syndrome.

TÍTULO / TITLE:   - Noninvasively diagnosing for fetal trisomy 21 by examining heterozygous single nucleotide polymorphisms in the placental specific genes on chromosome 21.

Enlace al Resumen

REVISTA / JOURNAL:    - Eur J Obstet Gynecol Reprod Biol. 2019 Feb;233:19-25. doi: 10.1016/j.ejogrb.2018.09.015. Epub 2018 S

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ejogrb.2018.09.015

AUTORES / AUTHORS: - Zhou F; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengd

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Noninvasive prenatal diagnosing for fetal trisomy 21 could help to avoid unnecessary amniocentesis. It is feasible to target the cell-free placental-specific mRNA in maternal plasma, thus eliminating the interference from the maternal genetic background. STUDY DESIGN: In this study, placental-specific genes on chromosome 21 were identified by searching the TiGER database and reviewing the published literature. These cell-free placental-specific mRNA fragments in maternal plasma were amplified and sequenced. Then, the allelic ratio of heterozygous single-nucleotide polymorphisms(SNPs) was analyzed. RESULTS: Four placental-specific genes (DNMT3L, KRTAP26-1, PLAC4, DSCR4) were identified. This study included 42 cases of normal pregnancies and 19 cases of trisomy 21 pregnancies. The probability density function showed that the allelic ratio of heterozygous SNPs in normal pregnancy reached a peak at 1.0, and that in the trisomy 21 pregnancy was a double-peaked curve in both 0.5 and 2.0. However, the allelic ratio of heterozygous SNPs demonstrated no statistical difference between the normal and trisomy 21 pregnancies. CONCLUSION: Fetal trisomy 21 could not be diagnosed by examining the heterozygous SNPs of cell-free placental-specific mRNA on chromosome 21. This might be because the low quantity and quality of cell-free placental-specific mRNA fragments in maternal plasma, and the limited available heterozygous SNPs on the placental-specific genes.

TÍTULO / TITLE:   - Copper accumulation in the brain causes the elevation of oxidative stress and less anxious behavior in Ts1Cje mice, a model of Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Free Radic Biol Med. 2019 Jan 18;134:248-259. doi: 10.1016/j.freeradbiomed.2019.01.015.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.freeradbiomed.2019.01.015

AUTORES / AUTHORS: - Ishihara K; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pathological Biochemistry, Division of Pathological Sciences, Kyoto Pharmaceutical University, 5 Misasagi Nakauchi-cho, Yamashina-ku, Kyoto-shi, Kyoto 607-8414, Japan. 

RESUMEN / SUMMARY: - Elevated oxidative stress (OS) is widely accepted to be involved in the pathogenesis of Down syndrome (DS). However, the mechanisms underlying the elevation of OS in DS are poorly understood. Biometals, in particular copper and iron, play roles in OS. We therefore focused on biometals in the brain with DS. In this study, we analyzed the profile of elements, including biometals, in the brain of Ts1Cje mice, a widely used genetic model of DS. An inductively coupled plasma-mass spectrometry (ICP-MS)-based comparative metallomic/elementomic analysis of Ts1Cje mouse brain revealed a higher level of copper in the hippocampus and cerebral cortex, but not in the striatum, in comparison to wild-type littermates. The expression of the copper transporter CTR1, which is involved in the transport of copper into cells, was decreased in the ependymal cells of Ts1Cje mice, suggesting a decrease in the CTR1-mediated transport of copper into the ependymal cells, which excrete copper into the cerebrospinal fluid. To evaluate the pathological significance of the accumulation of copper in the brain of Ts1Cje mice, we examined the effects of a diet with a low copper content (LoCD) on the elevated lipid peroxidation, the accumulation of hyperphosphorylated tau, and some behavioral anomalies. Reducing the copper concentration in the brain by an LoCD restored the enhanced lipid peroxidation and phosphorylation of tau in the brain and reduced anxiety-like behavior, but not hyperactivity or impaired spatial leaning, in Ts1Cje mice. The findings highlight the reduction of accumulation of copper in the brain may be a novel therapeutic strategy for DS.

TÍTULO / TITLE:   - In silico identification of critical proteins associated with learning process and immune system for Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - PLoS One. 2019 Jan 28;14(1):e0210954. doi: 10.1371/journal.pone.0210954. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0210954

AUTORES / AUTHORS: - Kulan H Dag T

INSTITUCIÓN / INSTITUTION: - Computer Engineering Department, Kadir Has University, Istanbul, Turkey. 

RESUMEN / SUMMARY: - Understanding expression levels of proteins and their interactions is a key factor to diagnose and explain the Down syndrome which can be considered as the most prevalent reason of intellectual disability in human beings. In the previous studies, the expression levels of 77 proteins obtained from normal genotype control mice and from trisomic Ts65Dn mice have been analyzed after training in contextual fear conditioning with and without injection of the memantine drug using statistical methods and machine learning techniques. Recent studies have also pointed out that there may be a linkage between the Down syndrome and the immune system. Thus, the research presented in this paper aim at in silico identification of proteins which are significant to the learning process and the immune system and to derive the most accurate model for classification of mice. In this paper, the features are selected by implementing forward feature selection method after preprocessing step of the dataset. Later, deep neural network, gradient boosting tree, support vector machine and random forest classification methods are implemented to identify the accuracy. It is observed that the selected feature subsets not only yield higher accuracy classification results but also are composed of protein responses which are important for the learning and memory process and the immune system.

TÍTULO / TITLE:   - Luteolin induces hippocampal neurogenesis in the Ts65Dn mouse model of Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Neural Regen Res. 2019 Apr;14(4):613-620. doi: 10.4103/1673-5374.248519.

Enlace a la Editora de la Revista http://dx.doi.org/10.4103/1673-5374.248519

AUTORES / AUTHORS: - Zhou WB; et al

INSTITUCIÓN / INSTITUTION: - Changzhou Women and Children Health Hospital Affiliated to Nanjing Medical University, Changzhou, Jiangsu Province, China. 

RESUMEN / SUMMARY: - Studies have shown that the natural flavonoid luteolin has neurotrophic activity. In this study, we investigated the effect of luteolin in a mouse model of Down syndrome. Ts65Dn mice, which are frequently used as a model of Down syndrome, were intraperitoneally injected with 10 mg/kg luteolin for 4 consecutive weeks starting at 12 weeks of age. The Morris water maze test was used to evaluate learning and memory abilities, and the novel object recognition test was used to assess recognition memory. Immunohistochemistry was performed for the neural stem cell marker nestin, the astrocyte marker glial fibrillary acidic protein, the immature neuron marker DCX, the mature neuron marker NeuN, and the cell proliferation marker Ki67 in the hippocampal dentate gyrus. Nissl staining was used to observe changes in morphology and to quantify cells in the dentate gyrus. Western blot assay was used to analyze the protein levels of brain-derived neurotrophic factor (BDNF) and phospho-extracellular signal-regulated kinase ½ (p-ERK1/2) in the hippocampus. Luteolin improved learning and memory abilities as well as novel object recognition ability, and enhanced the proliferation of neurons in the hippocampal dentate gyrus. Furthermore, luteolin increased expression of nestin and glial fibrillary acidic protein, increased the number of DCX(+) neurons in the granular layer and NeuN(+) neurons in the subgranular region of the dentate gyrus, and increased the protein levels of BDNF and p-ERK1/2 in the hippocampus. Our findings show that luteolin improves behavioral performance and promotes hippocampal neurogenesis in Ts65Dn mice. Moreover, these effects might be associated with the activation of the BDNF/ERK1/2 pathway.

TÍTULO / TITLE:   - Dynamic MRI in the Evaluation of Atlantoaxial Stability in Pediatric Down Syndrome Patients.

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Neurosurg. 2019 Jan 24:1-9. doi: 10.1159/000495788.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000495788

AUTORES / AUTHORS: - Tu A;et al

INSTITUCIÓN / INSTITUTION: - Children’s Hospital of Los Angeles, Los Angeles, California,  

RESUMEN / SUMMARY: - Down syndrome is the most common inherited disorder. Some patients develop atlantoaxial instability. Existing screening guidelines were developed prior to availability of MRI. We present predictors for deficit using dynamic MRI of the craniocervical junction. METHODS: A retrospective review of Down syndrome patients from 2001 to 2015 was carried out. Patients were considered symptomatic if they had clinical deficits or signal change on MRI. Measurements were taken at the atlantoaxial junction and structural abnormalities noted. Analysis was performed with SPSS. RESULTS: A total of 36 patients were included. Patients averaged 93 months of age with a follow-up of 57 months. No asymptomatic patients developed myelopathy during follow-up. During dynamic imaging, symptomatic patients had greater changes in space available for the cord (SAC) (5.2 vs. 2.7 mm; p < 0.001) and atlantodental interval (ADI) (2.8 vs. 1.3 mm; p = 0.04). These patients were also more likely to have a bony anomaly (50 vs. 13%; p = 0.03). CONCLUSION: This study characterizes the range of motion seen on dynamic MRI and provides parameters that can be used to distinguish patients at risk for neurologic injury. Changes greater than 3 mm in ADI or 5 mm in SAC during dynamic MRI or any bony abnormality warrants further investigation. Patients without these features may be able to avoid an unnecessary intervention.

Neurology - Neurología

TÍTULO / TITLE:   - Morphologic variations of the second cervical vertebra in Down syndrome compared with age-matched peers.

Enlace al Resumen

REVISTA / JOURNAL:    - J Neurosurg Spine. 2018 Nov 1:1-7. doi: 10.3171/2018.8.SPINE18750.

Enlace a la Editora de la Revista http://dx.doi.org/10.3171/2018.8.SPINE18750

AUTORES / AUTHORS: - Hofler RC; et al

INSTITUCIÓN / INSTITUTION: - Departments of Neurosurgery and Neuroradiology, Loyola University Medical Center, Maywood. 

RESUMEN / SUMMARY: - Atlantoaxial instability is an important cause of pain and neurological dysfunction in patients with Down syndrome (DS), frequently requiring instrumented fusion of the upper cervical spine. This study provides a quantitative analysis of C2 morphology in DS patients compared with their peers without DS to identify differences that must be considered for the safe placement of instrumentation.METHODSA retrospective chart review identified age-matched patients with and without DS with a CT scan of the cervical spine. Three-dimensional reconstructions of these scans were made with images along the axis of, and perpendicular to, the pars, lamina, facet, and transverse foramen of C2 bilaterally. Two of the authors performed independent measurements of anatomical structures using these images, and the average of the 2 raters’ measurements was recorded. Pedicle height and width; pars axis length (the distance from the facet to the anterior vertebral body through the pars); pars rostrocaudal angle (angle of the pars axis length to the endplate of C2); pars axial angle (angle of the pars axis length to the median coronal plane); lamina height, length, and width; lamina angle (angle of the lamina length to the median coronal plane); and transverse foramen posterior distance (the distance from the posterior wall of the transverse foramen to the tangent of the posterior vertebral body) were measured bilaterally. Patients with and without DS were compared using a mixed-effects model accounting for patient height.RESULTSA total of 18 patients with and 20 patients without DS were included in the analysis. The groups were matched based on age and sex. The median height was 147 cm (IQR 142-160 cm) in the DS group and 165 cm (IQR 161-172 cm) in the non-DS group (p < 0.001). After accounting for variations in height, the mean pars rostrocaudal angle was greater (50.86 degrees vs 45.54 degrees , p = 0.004), the mean transverse foramen posterior distance was less (-1.5 mm vs +1.3 mm, p =

TÍTULO / TITLE:   - Vertebral solitary bone plasmacytoma in a young adult with Trisomy 21: A case report.

Enlace al Resumen

REVISTA / JOURNAL:    - J Spinal Cord Med. 2018 Dec 17:1-4. doi: 10.1080/10790268.2018.1557866.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/10790268.2018.1557866

AUTORES / AUTHORS: - Bouattour N; et al.

INSTITUCIÓN / INSTITUTION: - Neurology’s Department , Habib Bourguiba Hospital , Sfax , Tunisia. 

RESUMEN / SUMMARY: - Solitary bone plasmacytoma (SBP) are rare lesions, accounting for less than 5% of all plasma cell proliferations. We describe a case of a 21-year-old female with Trisomy 21 presenting with cauda equina compression from an SBP. FINDINGS: Solitary bone plasmacytoma (SBP) is a rare primary bone tumor. It is characterized by monoclonal proliferation of malignant plasma cells localized to a bone segment, without signs of systemic invasion. The vertebral location is the most common. It preferentially affects men during their 5th or 6th decade. CLINICAL RELEVANCE: We report the first association between solitary bone plasmacytoma and Trisomy 21.

TÍTULO / TITLE:   - Brain MRI abnormalities in patients with infantile spasms and Down syndrome. LINK: Link to its Abstract

Enlace al Resumen

REVISTA / JOURNAL:    - Epilepsy Behav. 2019 Jan 4;92:57-60. doi: 10.1016/j.yebeh.2018.12.013.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.yebeh.2018.12.013

AUTORES / AUTHORS: - Trowbridge SK; ... Prabhu SP;

INSTITUCIÓN / INSTITUTION: - Neuroradiology Division, Department of Radiology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA. 

RESUMEN / SUMMARY: - Infantile spasms (IS) are the most frequent epilepsy syndrome in children with Down syndrome (DS). In DS, cellular (synaptic/dendritic changes) and molecular mechanisms are believed to contribute to epileptogenesis, rather than gross structural anomalies. Neuroimaging is a standard part of the evaluation of newly diagnosed infantile epilepsy including IS and, in this age group, often requires sedation. It is unclear if neuroimaging provides additional clinically useful etiologic information in IS associated with DS. METHODS: We conducted a retrospective chart review and detailed neuroimaging review in 36 patients (24 males) with IS and DS, cared for at Boston Children’s Hospital. RESULTS: Incidental imaging abnormalities were common (42%), but potentially relevant etiologic abnormalities were rare (16%). Structural congenital or acquired abnormalities were associated with ongoing antiepileptic drug (AED) use (p=0.02), as well as refractory epilepsy (p=0.04). However, neuroimaging did not alter the treatment plan for any of these patients. CONCLUSIONS: Clinicians must carefully weigh the benefits and risks of neuroimaging in infants with DS and IS, as neuroimaging did not lead to any changes in clinical management in our patients but may offer information regarding prognosis.

TÍTULO / TITLE:   - Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response.

Enlace al Resumen

REVISTA / JOURNAL:    - Glob Pediatr Health. 2019 Jan 9;6:2333794X18821939. doi: 10.1177/2333794X18821939. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177_2333794X18821939

AUTORES / AUTHORS: - Daniels D et al.

INSTITUCIÓN / INSTITUTION: - Children’s Hospital Colorado, Aurora, CO, USA.;  

RESUMEN / SUMMARY: - To evaluate infantile spasms in children with Down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk factors that may predict the occurrence of infantile spasms in this population. Methods. Medical charts, electroencephalograms, and brain magnetic resonance images were evaluated in 37 children treated for infantile spasms at a single institution from 2005 to 2015. Results. Mean age at diagnosis was 9.16 months, with an average 1.38-month lag from spasms onset to start of medication. Prevalence of heart defects and pulmonary hypertension were significantly higher in those with infantile spams compared with those without. Eighty-one percent receiving adrenocorticotropic hormone as initial treatment experienced remission within 2 weeks, 94.1% had remission at 3 months compared with 18.8% at 2 weeks and 35.3% at 3 months for other first-line treatments. Type of treatment was the only predictor of good outcome. Conclusions. Results stress the importance of early recognition and adrenocorticotropic hormone treatment for this seizure disorder in children with Down syndrome.

TÍTULO / TITLE:   - Sleep problems in adults with Down syndrome and their family carers.

Enlace al Resumen

REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2019 Jan 28. doi: 10.1111/jar.12572.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12572

AUTORES / AUTHORS: - Stores RJ

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Sleep disturbance is common and can have harmful psychological and physical effects. While sleep problems in children with Down syndrome (DS) have received a reasonable amount of attention, very little has been written about this topic in adults with DS. METHOD: The present study consisted of an online survey completed by 100 family carers of adults with DS. RESULTS: High rates of sleep problems of different types were reported in the adults with DS comparable to those found in children with DS in previous research. Significant associations were found between sleep problems and body mass index, excessive daytime sleepiness and a range of health and psychological problems. Low rates of treatments for sleep problems were reported. The majority of family caregivers felt their own sleep was affected. CONCLUSIONS: Sleep problems in adults with DS are common and varied. Assessment and treatment of such problems are likely to improve quality of life.

TÍTULO / TITLE:   - Down syndrome associated moyamoya may worsen epilepsy control and can benefit from surgical revascularization.

Enlace al Resumen

REVISTA / JOURNAL:    - Epilepsy Behav Case Rep. 2018 Oct 9;11:14-17. doi: 10.1016/j.ebcr.2018.09.008. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ebcr.2018.09.008

AUTORES / AUTHORS: - Garson SR; et al.

INSTITUCIÓN / INSTITUTION: - Swedish Epilepsy Center, Seattle, WA, USA. 

RESUMEN / SUMMARY: - To examine outcome of bilateral extracranial to intracranial (EC-IC) bypass surgeries for a Down syndrome patient with hard-to-treat epilepsy and moyamoya. Materials and methods: Superficial temporal arteries were anastamosed using an indirect bypass technique to middle cerebral arteries bilaterally to help limit perfusion deficits and seizure controls. Results: Two superficial temporal to middle cerebral artery indirect bypass surgeries were performed within 3months. Post-revascularization improvements included seizure control, gait, perfusion, wakefulness, language and quality of life. Conclusion: In patients with Down syndrome and moyamoya, improvements in seizure control and quality of life may occur with EC-IC bypass procedures.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - Dynamic MRI in the Evaluation of Atlantoaxial Stability in Pediatric Down Syndrome Patients.

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Neurosurg. 2019 Jan 24:1-9. doi: 10.1159/000495788.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000495788

AUTORES / AUTHORS: - Tu A;et al

INSTITUCIÓN / INSTITUTION: - Children’s Hospital of Los Angeles, Los Angeles, California,  

RESUMEN / SUMMARY: - Down syndrome is the most common inherited disorder. Some patients develop atlantoaxial instability. Existing screening guidelines were developed prior to availability of MRI. We present predictors for deficit using dynamic MRI of the craniocervical junction. METHODS: A retrospective review of Down syndrome patients from 2001 to 2015 was carried out. Patients were considered symptomatic if they had clinical deficits or signal change on MRI. Measurements were taken at the atlantoaxial junction and structural abnormalities noted. Analysis was performed with SPSS. RESULTS: A total of 36 patients were included. Patients averaged 93 months of age with a follow-up of 57 months. No asymptomatic patients developed myelopathy during follow-up. During dynamic imaging, symptomatic patients had greater changes in space available for the cord (SAC) (5.2 vs. 2.7 mm; p < 0.001) and atlantodental interval (ADI) (2.8 vs. 1.3 mm; p = 0.04). These patients were also more likely to have a bony anomaly (50 vs. 13%; p = 0.03). CONCLUSION: This study characterizes the range of motion seen on dynamic MRI and provides parameters that can be used to distinguish patients at risk for neurologic injury. Changes greater than 3 mm in ADI or 5 mm in SAC during dynamic MRI or any bony abnormality warrants further investigation. Patients without these features may be able to avoid an unnecessary intervention.

TÍTULO / TITLE:   - A case report of atlanto-axial instability in a Down Syndrome patient.

Enlace al Resumen

REVISTA / JOURNAL:    - Spinal Cord Ser Cases. 2018 Nov 28;4:106. doi: 10.1038/s41394-018-0139-7. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41394-018-0139-7

AUTORES / AUTHORS: - Jusabani MA; et al

INSTITUCIÓN / INSTITUTION: - Department of Orthopedics and Traumatology, Kilimanjaro Christian Medical Centre, Moshi, Tanzania.0000 0004 0648 072Xgrid.415218.b 

RESUMEN / SUMMARY: - Down Syndrome (DS)-also referred to as Trisomy 21-is associated with multiple deformities affecting various systems of the body. Joint laxity resulting in unstable atlanto-occipital and atlanto-axial joints-with an increased susceptibility to fatal cord injuries-is a recognized phenomenon in patients with DS. Case presentation: We report on a 30-year-old man with DS from Tanzania with no previous neck complaints, who presented with a 5-week progressive history of paraparesis that evolved into a quadriparesis. During his initial presentation, the patient reported that 5 months ago he had been involved in a headlock during a playground encounter. Discussion: Primary prevention of the traumatic spinal cord injuries is an important public health measure and a heightened emphasis should be placed to prevent such injuries in high risk populations-including DS patients.

TÍTULO / TITLE:   - Sex differences in the gait kinematics of patients with Down syndrome: A preliminary report.

Enlace al Resumen

REVISTA / JOURNAL:    - J Rehabil Med. 2019 Feb 1;51(2):144-146. doi: 10.2340/16501977-2507.

Enlace a la Editora de la Revista http://dx.doi.org/10.2340/16501977-2507

AUTORES / AUTHORS: - Zago M;et al

INSTITUCIÓN / INSTITUTION: - DEIB, Politecnico di Milano, 20133 Milano, Italy. 

RESUMEN / SUMMARY: - Sex-specific medicine requires understanding of the specific therapeutic needs and patho-physiology of men and women. In these terms, we investigated sex-related differences in the gait kinematics of patients with Down syndrome. DESIGN: Retrospective observational cohort study. SUBJECTS: A sample of 230 patients (103 females) aged 7-50 years underwent a standard gait-analysis test from 2000 to 2015. METHODS: Spatiotemporal gait parameters and synthetic indexes were computed as Gait Profile Score (GPS) and pelvis/lower limbs as Gait Variable Scores. RESULTS: Although speed, normalized step width, %stance and %swing were similar, in female patients step length was shorter and GPS was higher than in male patients, with no significant effect of age, speed and body mass index. Sex-specific features were found at the pelvis, hip and knee level (sagittal plane), and at the ankle level (transverse plane). CONCLUSION: Overall, in people with Down syndrome, the gait function of females tends to be more impaired than in males, with the exception of foot progression. Therapists should consider these differences when evaluating the severity of gait impairment and designing rehabilitation strategies.

TÍTULO / TITLE:   - Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals.

Enlace al Resumen

REVISTA / JOURNAL:    - Paediatr Drugs. 2018 Dec 13. pii: 10.1007/s40272-018-0322-0. doi: 10.1007/s40272-018-0322-0.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s40272-018-0322-0

AUTORES / AUTHORS: - Jones JT et al.

INSTITUCIÓN / INSTITUTION: - Division of General Pediatrics, Children’s Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA. 

RESUMEN / SUMMARY: - SUMMARY: BACKGROUND: Arthropathy of Down syndrome (DA) is largely under-recognized, with an average 2-year delay in diagnosis. Most patients present with polyarthritis, and treatment has historically been challenging. OBJECTIVES: Our objective was to investigate the clinical features and treatment of DA in the largest cohort reported to date. METHODS: In a retrospective chart review at two tertiary care hospitals, International Classification of Diseases, ninth revision, clinical modification (ICD-9-CM) codes for Down syndrome (DS) and juvenile idiopathic arthritis (JIA), between 1 January 1995 and 31 December 2015, were identified and charts reviewed. RESULTS: In total, 43 patients were identified, with an average (+/- standard deviation [SD]) follow-up period of 6 +/- 4.4 years. The average age of symptom onset was 7.4 +/- 3.9 years, with a mean delay of 19 +/- 17 months from symptom onset to diagnosis. At diagnosis, 77% of patients had morning stiffness and 72% had abnormal laboratory values; there was an average of 15 +/- 13 active joints (range 1-56). Treatment approaches varied, and there was a significant decrease in joints with active arthritis (p < 0.001), with 25% and 39% having at least one change in disease-modifying antirheumatic drug (DMARD) and biologic therapy, respectively. DMARD therapy was discontinued in 60% because of side effects, and 39% had inadequate response to first-line biologic therapy. CONCLUSIONS: DA remains under-recognized, with delays in diagnosis and extensive musculoskeletal symptoms at presentation. While DA can improve with current therapy for JIA (corticosteroids, DMARDs, biologics), barriers include medication toxicity, intolerance, and ineffectiveness. Earlier diagnosis through improved screening and more targeted treatment may allow for earlier disease control and better outcomes.

TÍTULO / TITLE:   - Clinical and Radiologic Outcomes of the Surgical Treatment of Patellofemoral Instability in Children with Down Syndrome and Dislocated Patella: Case Series.

Enlace al Resumen

REVISTA / JOURNAL:    - J Orthop Case Rep. 2018 Jul-Aug;8(4):61-65. doi: 10.13107/jocr.2250-0685.1162.

Enlace a la Editora de la Revista http://dx.doi.org/10.13107/jocr.2250-0685.1162

AUTORES / AUTHORS: - Bitar AC; ... Grangeiro PM.

INSTITUCIÓN / INSTITUTION: - Instituto Vita (ou Vita Care), Sao Paulo, SP, Brazil.; Instituto de Ortopedia e Traumatologia, FMUSP, Sao Paulo, SP, Brazil. 

RESUMEN / SUMMARY: - We attended three skeletally immature patients with Down syndrome (DS) with complaints of severe patellofemoral instability and dislocated patella (preoperatively, Dugdale classification IV or V), in addition to low functional capacity, with falls during gait. The technique (lateral release, medial capsulectomy, reconstruction of the medial patellofemoral ligament (MPFL) with the patellar ligament and associated techniques, and some knees) and results in three children with DS and bilaterally dislocated patella were revealed. Case Report: Our minimum follow-up was 27 months and maximum was 105 months (average of 64 months). All children improved gait, patellar stability, Kujala (58.13%), and subjective IDKC (40.55%) scores and improved the congruence and the trochlea groove angles. Conclusion: The patellofemoral instability in children with DS is a challenge. We should use an arsenal of surgical techniques in this complex problem. We believe in early surgery to improve the formation of structures, especially in patients with gross instabilities and frequent falls. In all cases, we detected a weakness of medial components and lateral contracture, reconstructed the MPFL (we were the first researchers to describe this procedure for this group of patients), and performed a medial capsulectomy and lateral release. In some knees, intraoperatively, it was necessary to associate the reconstruction of the medial patellotibial ligament to improve instability. We consider fundamental analysis of the axis with panoramic radiographs and hemiepiphysiodes is in cases of asymmetric or severe valgus.

TÍTULO / TITLE:   - External focus training for reacquisition of knee function in a Down syndrome patient after surgery for recurrent patellar dislocation: a case report.

Enlace al Resumen

REVISTA / JOURNAL:    - J Phys Ther Sci. 2018 Dec;30(12):1458-1461. doi: 10.1589/jpts.30.1458. Epub 2018 Nov 21.

Enlace a la Editora de la Revista http://dx.doi.org/10.1589/jpts.30.1458

AUTORES / AUTHORS: - Kanae K; 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: - This case study describes the reacquisition of knee joint function in a patient with Down syndrome after surgery for patellar dislocation using external focus training. [Participant and Methods] The patient was a female aged 24 years with Down syndrome and a low Intelligence Quotient, who suffered from right patellar dislocation. The range of motion in the right knee while walking was 2 to 23 degrees at 3 weeks after surgery. A compensatory gait while walking was confirmed, with her right leg fixed in extension. Her range of motion while lying was 0 to 155 degrees. A task in which the patient reached and touched a ball was performed with the lower extremities while lying down, according to simple instructions from a therapist. Instructions were given using a simple directive phrase. The intervention started with a single-joint exercise and progressed to a multi-joint exercise. [Results] The range of motion was 0 to 68 degrees at 9 weeks after surgery. Her compensatory gait disappeared and she was able to walk more than 2 km. [Conclusion] Even though the patient’s low cognitive function made it difficult for her to complete some tasks, training based on external focus enabled her to acquire adequate knee joint function. External focus training was found to be effective for a patient with a low Intelligence Quotient.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - A schedule of gross motor development for children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Dec 21. doi: 10.1111/jir.12580.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12580

AUTORES / AUTHORS: - Winders P et al

INSTITUCIÓN / INSTITUTION: - Sie Center for Down Syndrome, Children’s Hospital Colorado, Aurora, CO, USA. 

RESUMEN / SUMMARY: - Gross motor milestones for children who develop typically have been well established; however, norms for children with Down syndrome (DS) are uncertain. Without a developmental schedule for the gross motor development of children with DS, medical professionals are limited in their ability to identify if the development of a particular child with DS is delayed in comparison with his or her peers (i.e. other children with DS), assess when intervention is needed and answer the questions of parents regarding when their child can be expected to achieve developmental milestones. The objectives of this study are to: (1) provide health care professionals and early intervention providers with longitudinal data on the gross motor development of children with DS gathered prospectively; (2) contribute to the development of a definitive schedule of gross motor development for children with DS; (3) enable the identification of gross motor development that is delayed in comparison with other children with DS; and (4) help medical professionals address the questions of concerned parents who are anxious to know when their child will achieve gross motor skills such as sitting, crawling or walking. METHODS: Longitudinal data on 44 defined gross motor skills were collected on a large cohort of children with DS (n = 509) who received care at two referral centres that specialise in DS. Mastery was awarded when skills were observed directly by the physical therapist. Clinical data were retrospectively reviewed from a prospective patient clinic database and analysed. RESULTS: Specific age of mastery of gross motor skills was assessed. The mean, standard deviation and median age in months of gross motor skill achievement for children with DS, along with the 5th, 25th, 75th and 95th percentiles, are provided for birth to walking skills and post walking skills. No statistically significant gender-by-age group difference was observed in the 44 skills. CONCLUSIONS: This study provides a schedul

TÍTULO / TITLE:   - Biomechanical analysis of the timed up-and-go (TUG) test in children with and without Down syndrome

Enlace al Resumen

REVISTA / JOURNAL:    - Gait Posture. 2018 Dec 24;68:409-414. doi: 10.1016/j.gaitpost.2018.12.027.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.gaitpost.2018.12.027

AUTORES / AUTHORS: - Beerse M;... Wu J;

INSTITUCIÓN / INSTITUTION: - Department of Kinesiology and Health, Georgia State University, Atlanta, GA, United States; Center for Movement and Rehabilitation Research, Georgia State University, Atlanta, GA, United States.  

RESUMEN / SUMMARY: - The timed up-and-go (TUG) test consists of multiple functional activities of daily living performed in a sequence, with the goal to complete the test as quickly as possible. Considering children with Down syndrome (DS) have been shown to take longer to complete the TUG test, it is imperative to identify which tasks are problematic for this population in order to individualize physical interventions. RESEARCH QUESTION: Is the biomechanical pattern of each functional task during the TUG test different between children with DS and typically developing (TD) children? METHODS: Thirteen children with DS and thirteen TD children aged 5-11 years old completed the TUG test. Kinematic data was captured using a Vicon motion capture system. We visually coded the TUG test into five phases: sit-to-stand, walk-out, turn-around, walk-in, and stand-to-sit. We focused on the center-of-mass (COM) movement in the sit-to-stand phase, spatiotemporal parameters in the walk-out phase, and intersegmental coordination in the turn-around phase. RESULTS AND SIGNIFICANCE: Children with DS took longer to complete the entire test, as well as each of the five phases. During the sit-to-stand phase, children with DS produced smaller peak vertical COM velocity, medial-lateral COM excursion, and peak knee and hip extension velocity compared to TD peers. Children with DS walked at a slower velocity during the walk-out phase. Both groups demonstrated a similar intersegmental coordination pattern between the head, thorax, and pelvis during the turn-around phase although children with DS had slower average and peak angular velocity at the head, thorax, and pelvis. Our results suggest that children with DS were less able to anticipate transitioning between motor tasks and took longer to initiate motor tasks. Our TUG analysis provides the detailed insights to help evaluate individual motor tasks as well as the transition from one task to another for clinical populations.

TÍTULO / TITLE:   - Dual-task effects on postural sway during sit-to-stand movement in children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 Jan 28. doi: 10.1111/jir.12599.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12599

AUTORES / AUTHORS: - Pena GM; et al

INSTITUCIÓN / INSTITUTION: - Physical Therapy Department, Neuropediatrics Sector, Federal University of Sao Carlos, Sao Carlos, Brazil. 

RESUMEN / SUMMARY: - Cognitive and postural tasks require common cognitive mechanisms, resulting in conflicts when both tasks are simultaneously performed. The presence of neuromotor dysfunctions, such as Down syndrome, may impair coordination processes required to perform dual-tasks. The objective of this study was to investigate the dual-task effects on postural sway during sit-to-stand movements in typical children and children with Down syndrome in a cross-sectional study. METHODS: Twenty six typical children (10.2 +/- 2.4 years) and 21 with Down syndrome (10.3 +/- 2.3 years) performed sit-to-stand in the following conditions: (1) simple task; (2) dual-task bimanual activity (DT-Bim): sit-to-stand while carrying a tray using both hands; (3) dual-task unimanual dominant activity (DT-Uni-Dom): sit-to-stand while holding a plastic cup simulating water using the dominant hand; (4) dual-task unimanual non-dominant activity (DT-Uni-Nondom): sit-to-stand movement while holding a plastic cup simulating water. For data analysis, sit-to-stand was divided into three phases: preparation (phase 1), rising (phase 2), and stabilisation (phase 3). The following variables were calculated for each phase: anterior-posterior and medial-lateral amplitude of centre-of-pressure displacement, anterior-posterior and medial-lateral velocity of centre-of-pressure sway and area of centre-of-pressure sway. RESULTS: Children with Down syndrome showed greater sway than typical children in all sit-to-stand phases. Typical children showed greater anterior-posterior amplitude in phase 2 of sit-to-stand during DT-Uni Nondom compared with DT-Uni Dom. Children with Down syndrome during simple task condition showed greater and faster values sway in phases 2 and 3 of sit-to-stand movement than in DT-Bim activity, DT-Uni Dom activity and DT-Uni Nondom activity. During the condition of DT-Bim activity, these children showed lower anterior-posterior velocity of sway in phase 2 than during DT-Uni Dom activity. CONCLUSIONS: C

TÍTULO / TITLE:   - Motor and cognitive development of children with Down syndrome: The effect of acquisition of walking skills on their cognitive and language abilities.

Enlace al Resumen

REVISTA / JOURNAL:    - Brain Dev. 2018 Nov 28. pii: S0387-7604(18)30564-3. doi: 10.1016/j.braindev.2018.11.008.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.braindev.2018.11.008

AUTORES / AUTHORS: - Yamauchi Y; Aoki S; et al.

INSTITUCIÓN / INSTITUTION: - Center for Health and Environmental Risk Research, National Institute for Environmental Studies, Japan. 

RESUMEN / SUMMARY: - This study investigated the relationship between motor and cognitive/language development in children with Down syndrome (DS). We also tested the hypothesis that acquisition of walking skills facilitates later cognitive/language development. METHODS: Participants were 156 children with DS who were less than 48months old and had undergone a health checkup by medical doctors and received rehabilitation treatment between April 2013 and March 2017 in Yokohama, Japan. To assess their development, the Kyoto Scale of Psychological Development (KSPD) 2001 was used, which measures development in three subdomains: Posture-Motor (P-M), Cognitive-Adaptive (C-A), and Language-Social (L-S). To investigate the relationship between motor and cognitive/language development, partial correlation analyses were conducted that controlled for participants’ age. To test the effect of achieving walking skills, regression analyses were conducted using only data from participants who took the KSPD at least twice and could not walk at the initial test. RESULTS: P-M developmental age (DA) was significantly and positively correlated with both C-A DA and L-S DA in children 1-3years old. The relationship strengthened with increased age. Acquisition of walking skills had a significant positive effect on both the C-A DA and L-S DA at the second test when controlling for the C-A DA and L-S DA at the first test and age at the second test. CONCLUSION: Motor development was correlated with both cognitive and language development in young children with DS. Results also suggested that achievement of walking could facilitate later cognitive/language development in children with DS.

TÍTULO / TITLE:   - Sex differences in the gait kinematics of patients with Down syndrome: A preliminary report.

Enlace al Resumen

REVISTA / JOURNAL:    - J Rehabil Med. 2019 Feb 1;51(2):144-146. doi: 10.2340/16501977-2507.

Enlace a la Editora de la Revista http://dx.doi.org/10.2340/16501977-2507

AUTORES / AUTHORS: - Zago M;et al

INSTITUCIÓN / INSTITUTION: - DEIB, Politecnico di Milano, 20133 Milano, Italy.  

RESUMEN / SUMMARY: - Sex-specific medicine requires understanding of the specific therapeutic needs and patho-physiology of men and women. In these terms, we investigated sex-related differences in the gait kinematics of patients with Down syndrome. DESIGN: Retrospective observational cohort study. SUBJECTS: A sample of 230 patients (103 females) aged 7-50 years underwent a standard gait-analysis test from 2000 to 2015. METHODS: Spatiotemporal gait parameters and synthetic indexes were computed as Gait Profile Score (GPS) and pelvis/lower limbs as Gait Variable Scores. RESULTS: Although speed, normalized step width, %stance and %swing were similar, in female patients step length was shorter and GPS was higher than in male patients, with no significant effect of age, speed and body mass index. Sex-specific features were found at the pelvis, hip and knee level (sagittal plane), and at the ankle level (transverse plane). CONCLUSION: Overall, in people with Down syndrome, the gait function of females tends to be more impaired than in males, with the exception of foot progression. Therapists should consider these differences when evaluating the severity of gait impairment and designing rehabilitation strategies.

TÍTULO / TITLE:   - External focus training for reacquisition of knee function in a Down syndrome patient after surgery for recurrent patellar dislocation: a case report.

Enlace al Resumen

REVISTA / JOURNAL:    - J Phys Ther Sci. 2018 Dec;30(12):1458-1461. doi: 10.1589/jpts.30.1458. Epub 2018 Nov 21.

Enlace a la Editora de la Revista http://dx.doi.org/10.1589/jpts.30.1458

AUTORES / AUTHORS: - Kanae K; 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: - This case study describes the reacquisition of knee joint function in a patient with Down syndrome after surgery for patellar dislocation using external focus training. [Participant and Methods] The patient was a female aged 24 years with Down syndrome and a low Intelligence Quotient, who suffered from right patellar dislocation. The range of motion in the right knee while walking was 2 to 23 degrees at 3 weeks after surgery. A compensatory gait while walking was confirmed, with her right leg fixed in extension. Her range of motion while lying was 0 to 155 degrees. A task in which the patient reached and touched a ball was performed with the lower extremities while lying down, according to simple instructions from a therapist. Instructions were given using a simple directive phrase. The intervention started with a single-joint exercise and progressed to a multi-joint exercise. [Results] The range of motion was 0 to 68 degrees at 9 weeks after surgery. Her compensatory gait disappeared and she was able to walk more than 2 km. [Conclusion] Even though the patient’s low cognitive function made it difficult for her to complete some tasks, training based on external focus enabled her to acquire adequate knee joint function. External focus training was found to be effective for a patient with a low Intelligence Quotient.

TÍTULO / TITLE:   - Physical Activity Levels of Children With Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Phys Ther. 2019 Jan;31(1):33-41. doi: 10.1097/PEP.0000000000000556.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/PEP.0000000000000556

AUTORES / AUTHORS: - Fox B;

INSTITUCIÓN / INSTITUTION: - Division of Physical Therapy, Department of Orthopaedics, Duke University, Durham, North Carolina. 

RESUMEN / SUMMARY: - This systematic review of literature analyzed accelerometer use to measure physical activity (PA) in individuals 21 years and younger with Down syndrome (DS). SUMMARY OF KEY POINTS: Comprehensive search strategy conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Eight articles met inclusion criteria. Six studies reported children with DS are not meeting PA guidelines; 4 studies found intensity levels decline with age. Three studies reported children with DS engage in significantly less vigorous PA than control groups. Determination of intensity levels varied, limiting additional comparisons. CONCLUSIONS: Children with DS engage in less PA than peers developing typically and are not meeting PA guidelines across age groups, increasing risk for numerous health conditions secondary to decreased activity. RECOMMENDATIONS FOR CLINICAL PRACTICE: Promotion of more appropriate levels of PA and elimination of barriers to participation in PA are important for individuals with DS.

TÍTULO / TITLE:   - Adapted Dance Improves Motor Abilities and Participation in Children With Down Syndrome: A Pilot Study.

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Phys Ther. 2019 Jan;31(1):76-82. doi: 10.1097/PEP.0000000000000559.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/PEP.0000000000000559

AUTORES / AUTHORS: - McGuire M; et al.

INSTITUCIÓN / INSTITUTION: - Division of Occupational Therapy and Physical Therapy (Ms McGuire and Drs Long and Bailes) and Division of Developmental and Behavioral Pediatrics (Dr Esbensen), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio. 

RESUMEN / SUMMARY: - This pilot study measured effects of an adapted dance program on motor abilities and participation in children with Down syndrome (DS) and explored caregivers’ qualitative feedback regarding its benefits. METHODS: Children with DS participated in 20 weekly 1-hour adapted dance sessions. The Canadian Occupational Performance Measure (COPM) and Gross Motor Function Measure (GMFM) Dimensions D and E were administered before and after the program. Caregivers completed a survey at the last session. RESULTS: Six children completed pre- and postassessments. Significant improvements were noted in GMFM-88 measures. Caregivers of 5 participants reported improved scores on the COPM that were not significant. Caregivers reported physical, cognitive, and emotional improvements. CONCLUSIONS: This study supports use of an adapted dance program to improve motor abilities and participation in children with DS. VIDEO ABSTRACT: For more insights from the authors, access Supplemental Digital Content 1, available: http://links.lww.com/PPT/A231

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.

Enlace al Resumen

REVISTA / JOURNAL:    - Genet Med. 2018 Nov;20(11):1312-1323. doi: 10.1038/gim.2018.22. Epub 2018 Apr 26.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/gim.2018.22

AUTORES / AUTHORS: - Palomaki GE; Kloza EM

INSTITUCIÓN / INSTITUTION: - Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Providence, Rhode Island, USA 

RESUMEN / SUMMARY: - We systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome. METHODS: We searched peer-reviewed English publications with diagnostic results on all pregnancies that provided test failure rates. Data on the odds of failure in Down syndrome and euploid pregnancies and the impact of repeat testing were extracted. Random-effects modeling was then used to identify moderators that could explain variability. RESULTS: Thirty articles satisfied the inclusion criteria for overall failure rates. Study location (Western and Asian with initial testing, and Western with repeat testing) were significant moderators with failure rates of 3.3, 0.6, and 1.2%, respectively (P = 0.001). The odds ratio for Down syndrome in successful versus failed tests was 0.98 (95% confidence interval: 0.62-1.55, I(2) = 0%). Repeat testing from 14 large clinical cohort studies found that 83% (range: 52-100%) of failures were repeated, with 79% (range: 46-97%) being successful. CONCLUSION: Lower failure rates in Asian studies may be related to not routinely measuring the fetal fraction and to fewer obese women. Repeat cfDNA testing is effective in providing reliable results after initial failures. Protocols for primary cfDNA screening should focus on Down syndrome, with less common and more structurally abnormal trisomy 18 and 13 pregnancies treated as adjuncts.

TÍTULO / TITLE:   - Associations of serum markers screening for Down’s syndrome with pregnancy outcomes: A Chinese retrospective cohort study.

Enlace al Resumen

REVISTA / JOURNAL:    - Clin Chim Acta. 2019 Feb;489:130-135. doi: 10.1016/j.cca.2018.12.001. Epub 2018 Dec 6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.cca.2018.12.001

AUTORES / AUTHORS: - Yuan X; ... Wang H;

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, Changzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, No. 16 Bo Ai Road, Changzhou, Jiangsu Province, China. 

RESUMEN / SUMMARY: - We examined the associations between Down’s serum screening analytes and pregnancy outcomes in Chinese women. METHODS: A retrospective cohort study of 2470 pregnant women was conducted. Maternal serum triple tests (AFP, fbeta-hCG, uE3), maternal characteristics and pregnancy outcomes were recorded from our prenatal screening and hospitalization information system, respectively. RESULTS: The elevated concentration of uE3 in the early-second trimester was associated with increased risk of LGA infants and macrosomia, decreased risk of PE and small SGA infants (for LGA: OR: 1.34, 95% CI: 1.09-1.65; for macrosomia: OR:1.39, 95% CI: 1.08-1.78; for PE: OR: 0.61, 95% CI: 0.40-0.95; for SGA: OR: 0.35, 95% CI: 0.25-0.49). The increased ratio of AFP/uE3 was associated with reduced risk of GDM in the study populations (BMI>/=25; OR: 0.96, 95% CI: 0.0.93-1.00). The higher ratio of AFP/fbeta-hCG+uE3 associated with increased risk of SGA infants and ICP in these subjects (BMI>/=25) was also observed (for SGA: OR: 1.11, 95% CI: 1.03-1.18; for ICP: OR: 1.27, 95% CI: 1.06-1.53). CONCLUSIONS: Down’s serum screening analytes were associated with pregnancy outcomes in Chinese population and might provide an alternative tools for risk estimates on these unfavorable outcomes.

TÍTULO / TITLE:   - Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening.

Enlace al Resumen

REVISTA / JOURNAL:    - Biosci Trends. 2018;12(6):613-619. doi: 10.5582/bst.2018.01232.

Enlace a la Editora de la Revista http://dx.doi.org/10.5582/bst.2018.01232

AUTORES / AUTHORS: - Zhou Y; et al.

INSTITUCIÓN / INSTITUTION: - Obstetrics and Gynecology Hospital of Fudan University. 

RESUMEN / SUMMARY: - To assess the predictive value of integrating multiple of the median (MOM) with the risk cut-off value for serological screening of Down syndrome. In this retrospective study, women with singleton pregnancies who underwent triple serological screening for Down syndrome were followed, and their screening results and pregnancy outcomes were recorded. The range of MoM value of each indicator was calculated, different protocols integrating various MoM values with the risk cut-off value were compared. A total of 120,269 women with singleton pregnancy were screened and included in the analysis, of those 52 fetuses were confirmed as trisomy-21 by amniocentesis chromosomal karyotyping. Using a risk cut-off value of 1:380, 8,809 samples tested positive and the screen positive rate was 7.32% (8,809/120,269). The normal reference ranges (5-95%) of the MoM value of AFP, beta-hCG, and uE3 were 0.60-1.72, 0.43-2.21 and 0.60-1.58, respectively. The detection rate of each screening protocol integrating different MoM percentile values was between 75% and 79%, the positive rate was between 7% and 18%, and the false positive rate was between 7% and 18%. Protocol-6 which combined the screening risk cut-off value and beta-hCG MoM >/= 97.5% percentile is an optimal protocol with a relatively high detection rate (78.8%) and low false positive rate (8.2%). Integrating MoM values of serological indicators can appropriately increase detection rate when interpreting the results of Down syndrome screening.

TÍTULO / TITLE:   - Improving women’s knowledge about prenatal screening in the era of non-invasive prenatal testing for Down syndrome - development and acceptability of a low literacy decision aid.

Enlace al Resumen

REVISTA / JOURNAL:    - BMC Pregnancy Childbirth. 2018 Dec 17;18(1):499. doi: 10.1186/s12884-018-2135-0.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12884-018-2135-0

AUTORES / AUTHORS: - Smith SK et al

INSTITUCIÓN / INSTITUTION: - Psychosocial Research Group, Lowy Research Centre, C25, Prince of Wales Clinical School, Faculty of Medicine, UNSW Sydney, Corner High and Botany St, Kensington, Sydney New South Wales, 2033, Australia. 

RESUMEN / SUMMARY: - Access to information about prenatal screening is important particularly in light of new techniques such as non-invasive prenatal testing (NIPT). This study aimed to develop and examine the acceptability of a low literacy decision aid (DA) about Down syndrome screening among pregnant women with varying education levels and GPs. METHODS: We developed a DA booklet providing information about first-trimester combined testing, maternal serum screening, and NIPT. GPs and women participated in a telephone interview to examine the acceptability of the DA and measure screening knowledge before and after reading the DA. The knowledge measure was designed to assess whether women had understood the gist of the information presented in the decision aid. It comprised conceptual questions (e.g. screening tells you the chance of having a baby with Down syndrome) and numeric questions (e.g. the accuracy of different screening tests). RESULTS: Twenty-nine women and 18 GPs participated. Regardless of education level, most women found the booklet ‘very’ clearly presented (n = 22, 76%), and ‘very’ informative (n = 23, 80%). Overall, women’s conceptual and numeric knowledge improved after exposure to the DA, from 4% having adequate knowledge to 69%. Women’s knowledge of NIPT also improved after receiving the decision aid, irrespective of education. Most GPs found it ‘very’ clearly presented (n = 13, 72%), and that it would ‘very much’ facilitate decision-making (n = 16, 89%). CONCLUSIONS: The DA was found to be acceptable to women as well as GPs. A comprehensive evaluation of the efficacy of the decision aid compared to standard information is an important next step. Strategies are needed on how to implement the tool in practice.

TÍTULO / TITLE:   - Early diagnosis of trisomy 21, trisomy 18 and trisomy 13 using nuchal translucency thickness and ductus venosus blood flow waveform in West China.

Enlace al Resumen

REVISTA / JOURNAL:    - Mol Med Rep. 2018 Dec 12. doi: 10.3892/mmr.2018.9756.

Enlace a la Editora de la Revista http://dx.doi.org/10.3892/mmr.2018.9756

AUTORES / AUTHORS: - Tang Y; et al

INSTITUCIÓN / INSTITUTION: - Department of Ultrasonography, West China Women and Children Hospital Affiliated to Sichuan University, Chengdu, Sichuan 610041, P.R. China. 

RESUMEN / SUMMARY: - Abnormal nuchal translucency (NT) thickness and ductus venosus (DV) blood flow have been associated with trisomy 21, 18 and 13. However, the association of abnormal DV with these aneuploidies varies among clinical studies. The present study examined the possibility of using NT combined with DV for the early diagnosis of the three aforementioned aneuploidies in the Western Chinese population, focusing on three aspects: Biological pathway analysis, theoretical statistical analysis and clinical data analysis from 1,962 firsttrimester pregnant women from Western China. The pathway and statistical analyses performed suggested the reliability of integrating NT and DV in the prediction of the three aneuploidies. The clinical data analysis suggested that integrating NT and DV, compared with NT alone, resulted in increased predictive power (34.09 vs. 22.45%), better rejection probability (0.21 vs. 0.44%), increased specificity (96.71 vs. 94.07%) and increased sensitivity (89.47 vs. 80.49%). The present results suggested the reliability of integrating NT and DV for the early diagnosis of trisomy 21, 18 and 13 for the Western Chinese population. The present results provided novel statistical analyses to the field of prenatal diagnosis in the Western Chinese population.

TÍTULO / TITLE:   - Prenatal Screening Markers for Down Syndrome: Sensitivity, Specificity, Positive and Negative Expected Value Method.

Enlace al Resumen

REVISTA / JOURNAL:    - J Med Biochem. 2018 Jan 1;37(1):62-66. doi: 10.1515/jomb-2017-0022. eCollection 2018 Jan.

Enlace a la Editora de la Revista http://dx.doi.org/10.1515/jomb-2017-0022

AUTORES / AUTHORS: - Durkovic J; et al

INSTITUCIÓN / INSTITUTION: - Department of Genetics, Hospital Subotica, Subotica, Serbia. 

RESUMEN / SUMMARY: - Genetic screening for chromosomopathy is performed in the first trimester of pregnancy by determining fetal nuchal translucency (NT), and the pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG) biomarkers in maternal serum. Methods: We tested the sensitivity, specificity, positive and negative expected values of each marker with the aim of setting a model for prenatal screening readings. Statistical data treatment has been performed on a sample of 340 pregnant women with positive results of prenatal screening. Results: Sensitivity of PAPP-A was 0.6250 (probability 62.50%), free beta HCG 0.5893 (58.93%), NT 0.1785 (17.85%). Specificity of PAPP-A was 0.5106 (probability 51.06%), free beta HCG 0.5246 (52.46%), NT 0.9718 (97.18%). Positive expected value of PAPP-A was 0.2011 (probability 20.11%), free beta HCG 0.1964 (19.64%), NT 0.556 (55.56%). Negative expected value of PAPP-A was 0.8735 (probability 87.35%), free beta HCG 0.8662 (86.62%), NT 0.8571 (85.71%). The NT marker has a significantly higher specificity, which means that its normal value will significantly reduce the final risk of trisomy 21. The sensitivity of NT is much lower than that of biochemical markers, which means that a pathological value of NT does not have a significant influence on the final risk, i.e. the significantly higher sensitivity of biochemical markers will reduce the final risk of trisomy 21. Conclusions: The analyses stress the importance of using a software which has the possibility to separate the level of a biochemical risk by correlating PAPP-A and free beta HCG and, by adding the NT marker, calculate the level of a final risk of Down syndrome.

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Variability of spatiotemporal gait parameters in children with and without Down syndrome during treadmill walking.

Enlace al Resumen

REVISTA / JOURNAL:    - Gait Posture. 2018 Nov 27;68:207-212. doi: 10.1016/j.gaitpost.2018.11.032.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.gaitpost.2018.11.032

AUTORES / AUTHORS: - Beerse M; Wu J;

INSTITUCIÓN / INSTITUTION: - Department of Kinesiology and Health, Georgia State University, Atlanta, GA, USA; Center for Movement & Rehabilitation Research, Georgia State University, Atlanta, GA, USA 

RESUMEN / SUMMARY: - Increasing walking speed and including bilateral external ankle load have been shown to improve aspects of the gait pattern of children with Down syndrome (DS). However, it is unknown if speed and ankle load improves the cycle-to-cycle variability in a similar way. RESEARCH QUESTION: How do changes of walking speed and external ankle load impact spatiotemporal variability during treadmill walking in children with and without DS? METHODS: Thirteen children with DS (aged 7-10 years) and thirteen age- and sex-matched typically developing (TD) children participated in this study. Subjects completed two bouts of 60-second treadmill walking at two different speeds (slow and fast) and two load conditions (no load and ankle load equaling to 2% bodyweight at each side). Kinematic data was captured using a Vicon motion capture system. Mean and coefficient of variance of spatiotemporal gait variables were calculated and compared between children with and without DS. RESULTS AND SIGNIFICANCE: Across all conditions, the DS group took shorter and wider steps than the TD group, but walked with a similar swing percentage, double support percentage, and foot rotation angle. Further, the DS group demonstrated greater variability of all spatiotemporal parameters, except for step width and foot rotation angle. Our results indicated that children with DS can modulate their spatiotemporal gait pattern accordingly like their TD peers when walking faster on a treadmill and/or with an external ankle load. Smaller step width variability in the DS group suggests that mediolateral stability may be prioritized during treadmill walking to safely navigate the treadmill and complete walking tasks. Similar temporal parameters but distinct spatial parameters in the DS group suggest that they may have developed similar rhythmic control but are confined by their spatial movement limitations.

TÍTULO / TITLE:   - Comparison of Aberrant Behavior Checklist profiles across Prader-Willi syndrome, Down syndrome, and autism spectrum disorder.

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Med Genet A. 2018 Dec;176(12):2751-2759. doi: 10.1002/ajmg.a.40665. Epub 2018 Dec 21.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.40665

AUTORES / AUTHORS: - Salehi P, Capone G et al

INSTITUCIÓN / INSTITUTION: - Seattle Children’s Hospital, Division of Developmental Medicine, University of Washington, Seattle, Washington. 

RESUMEN / SUMMARY: - Prader-Willi syndrome (PWS, OMIM # 176270) and Down syndrome (DS, OMIM #190685) are neurodevelopmental genetic disorders with higher rates of autism spectrum disorder (ASD). The Aberrant Behavior Checklist (ABC) is a caregiver rating scale that assesses maladaptive behaviors. Overlapping symptoms exist between PWS, DS, and ASD, including maladaptive behaviors. We aimed to evaluate ABC profiles between PWS, DS, and ASD alone (without known genetic syndrome). In addition, we hypothesized PWS and DS with a comorbid ASD positive screen or diagnosis would have similar ABC profiles to ASD alone. ABC data from the following cohorts were analyzed: PWS (Seattle Children’s Hospital, n = 28, mean age = 12.8 +/- 4.9 years; University of Florida, n = 35, mean age = 9.3 +/- 7.1 years), DS (Johns Hopkins, n = 406, mean age = 8.1 +/- 2.4 years), and ASD (University of Florida, n = 102, mean age = 10.8 +/- 3.5 years). ASD alone had significantly higher ABC scores. Subgroups of PWS and DS with a comorbid ASD positive screen or diagnosis had similarities in scores with the ASD only group, with subscale patterns unique to each syndrome. The ABC indicated worse maladaptive behaviors in children with ASD, including those with genetic syndromes. Although more studies are needed to evaluate the utility and the accuracy of the ABC as a tool to screen for ASD in special populations, it may be a useful adjunct in screening those children with PWS or DS who need more in depth ASD evaluation.

TÍTULO / TITLE:   - Social Cognition in Down Syndrome: Face Tuning in Face-Like Non-Face Images.

Enlace al Resumen

REVISTA / JOURNAL:    - Front Psychol. 2018 Dec 18;9:2583. doi: 10.3389/fpsyg.2018.02583. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fpsyg.2018.02583

AUTORES / AUTHORS: - Pavlova MA; et al

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry and Psychotherapy, Medical School and University Hospital, Eberhard Karls University of Tubingen, Tubingen, Germany. 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are widely believed to possess considerable socialization strengths. However, the findings on social cognition capabilities are controversial. In the present study, we investigated whether individuals with DS exhibit shortage in face tuning, one of the indispensable components of social cognition. For this purpose, we implemented a recently developed Face-n-Food paradigm with food-plate images composed of food ingredients such as fruits and vegetables. The key benefit of such face-like non-face images is that single elements do not facilitate face processing. In a spontaneous recognition task, 25 children with DS aged 9 to 18 years were presented with a set of Face-n-Food images bordering on the Giuseppe Arcimboldo style. The set of images was administered in a predetermined order from the least to most resembling a face. In DS individuals, thresholds for recognition of the Face-n-Food images as a face were drastically higher as compared not only with typically developing controls, but also with individuals with autistic spectrum disorders and Williams-Beuren syndrome. This outcome represents a significant step toward better conceptualization of the visual social world in DS and neurodevelopmental disorders in general.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Adults with Down syndrome: a comprehensive approach to manage complexity. LINK: Link to its Abstract

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 Jan 9. doi: 10.1111/jir.12588.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12588

AUTORES / AUTHORS: - Carfi A et al.

INSTITUCIÓN / INSTITUTION: - Centro Medicina dell’Invecchiamento, Department of Geriatrics, Universita Cattolica del Sacro Cuore, Rome, Italy. 

RESUMEN / SUMMARY: - Down syndrome (DS) is characterised by premature ageing that affects selected organ systems, and persons with this condition can present patterns of co-morbidities and deficits often observed in the older population without DS. However, information on the characteristics of adult persons with DS is limited. The objective of the study is to describe characteristics of adults with DS collected with a standardised, comprehensive assessment instrument. METHODS: Cross-sectional study. Four hundred thirty adults with DS (age range 18/75 years) from three countries (Italy, n = 95; USA, n = 175; and Canada, n = 160). A standardised assessment instrument (interRAI intellectual disability) was used to assess sample characteristics. RESULTS: Mean age ranged from 35.2 (standard deviation 12.0) years in the US sample to 48.8 (standard deviation 9.0) years in the Canadian sample. Most participants in the Italian and US sample were living in private homes, while more than half of those in the Canadian sample were institutionalised. Prevalences of geriatric conditions, including cognitive deficits, disability in the common activities of daily living, symptoms of withdrawal or anhedonia, aggressive behaviour, communication problems, falls and hearing problems were high in the study sample. Gastrointestinal symptoms, skin and dental problems and obesity were also frequently observed. CONCLUSIONS: Adults with DS present with a high level of complexity, which may suggest the need for an approach based on a comprehensive assessment and management that can provide adequate care. Further research is needed to understand better the effectiveness of such an approach in the DS population.

TÍTULO / TITLE:   - Parents’ perceptions of functional abilities in people with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Med Genet A. 2019 Feb;179(2):161-176. doi: 10.1002/ajmg.a.61004. Epub 2018 Dec 24.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.61004

AUTORES / AUTHORS: - de Graaf G, Levine SP Goldstein R Skotko BG

INSTITUCIÓN / INSTITUTION: - Family Resource Associates, Inc., Shrewsbury, New Jersey. 

RESUMEN / SUMMARY: - A realistic assessment of the range of functional abilities found in people with Down syndrome (DS) may assist in counseling expectant parents. This study asked parents from the United States and the Netherlands to assess 11 functional skills of their sons and daughters with DS: walking, eating, speaking, grooming/personal hygiene, reading, writing, preparing meals, working at a job, going on dates, traveling independently, and living independently. We analyzed responses from 2,658 parents who have sons/daughters with DS of all ages. The majority of people with DS in the United States could walk by 25 months of age, speak reasonably well by 12 years, maintain their own personal hygiene by 13 years, and work independently by 20 years. By 31 years of age, 49% were reading reasonably well, and 46% were writing reasonably well. Approximately 30% could travel independently, and 34% were living independently. The results from parents in the Netherlands were similar for most measures. This normative data on function may contribute to anticipatory guidance and decision-making. Furthermore, as parents and clinicians seek to assess the relative strengths and weakness of people with DS, resources and supports can be marshaled for those not meeting milestones at expected times.

TÍTULO / TITLE:   - Family-Centered Perinatal Services for Children With Down Syndrome and Their Families in Florida.

Enlace al Resumen

REVISTA / JOURNAL:    - J Obstet Gynecol Neonatal Nurs. 2019 Jan;48(1):78-89. doi: 10.1016/j.jogn.2018.10.006. Epub 2018 Dec

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jogn.2018.10.006

AUTORES / AUTHORS: - Marshall J et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - To examine the experiences of parents or caregivers of children with Down syndrome related to prenatal care, the birth setting, primary and specialty care, and care coordination. DESIGN: Cross-sectional, mixed-methods study. SETTING: Florida. PARTICIPANTS: English- or Spanish-speaking parents/primary caregivers (N = 101) of children who were 0 to 18 years old, had a diagnosis of Down syndrome, and were born in Florida. METHODS: Participants were identified through snowball sampling and completed an online version of the Family Experiences Survey. Analyses included descriptive statistics, Fisher exact tests, and content analysis of the open-ended questions. RESULTS: Fewer than half of the 101 respondents reported receipt of adequate information after diagnosis of Down syndrome during the prenatal period (n = 18, 19.3%) or in the birth setting (n = 35, 41.2%). Most participants (52.9%-95.4%) reported that they received adequate time and specific information needed and that providers were sensitive to their feelings, values, and family customs during the prenatal period, in the birth setting, and during primary and specialty care. However, fewer than 60% of participants (19.3%-59.1%) recalled that they received information about Down syndrome or helpful programs such as Children’s Medical Services, Early Steps, or Healthy Start either from prenatal care providers or in the birth settings. CONCLUSION: Our findings highlight the critical role that perinatal care providers play in the establishment of access to and use of specialty care services for neonates with Down syndrome and emphasize the need for family-centered care in prenatal and birth settings.

TÍTULO / TITLE:   - Out-of-pocket expenditures and care time for children with Down Syndrome: A single-hospital study in Mexico City.

Enlace al Resumen

REVISTA / JOURNAL:    - PLoS One. 2019 Jan 10;14(1):e0208076. doi: 10.1371/journal.pone.0208076. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0208076

AUTORES / AUTHORS: - Martinez-Valverde S; et al

INSTITUCIÓN / INSTITUTION: - Centro de Estudios Economicos y Sociales en Salud Hospital Infantil de Mexico Federico Gomez, Instituto Nacional de Salud, Mexico City, Mexico. 

RESUMEN / SUMMARY: - AIM: To examine the burden of out-of-pocket household expenditures and time spent on care by families responsible for children with Down Syndrome (DS). METHODS: A cross-sectional analysis was performed after surveying families of children with DS. The children all received medical care at the Hospital Infantil de Mexico Federico Gomez (HIMFG), a National Institute of Health. Data were collected on out-of-pocket household expenditures for the medical care of these children. The percentage of such expenditure was calculated in relation to available household expenditure (after subtracting the cost of food/housing), and the percentage of households with catastrophic expenditure. Finally, the time spent on the care of the child was assessed. RESULTS: The socioeconomic analysis showed that 67% of the households with children with DS who received medical care in the HIMFG were within the lower four deciles (I-IV) of expenses, indicating a limited ability to pay for medical services. Yearly out-of-pocket expenditures for a child with DS represented 27% of the available household expenditure, which is equivalent to $464 for the United States dollars (USD). On average, 33% of families with DS children had catastrophic expenses, and 46% of the families had to borrow money to pay for medical expenses. The percentage of catastrophic expenditure was greater for a household with children aged five or older compared with households with younger children. The regression analysis revealed that the age of the child is the most significant factor determining the time spent on care. CONCLUSIONS: Some Mexican families of children with DS incur substantial out-of-pocket expenditures, which constitute an economic burden for families of children who received medical care at the HIMFG.

TÍTULO / TITLE:   - Being a dad to a child with Down’s syndrome: Overcoming the challenges to adjustment.

Enlace al Resumen

REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2019 Jan 11. doi: 10.1111/jar.12563.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12563

AUTORES / AUTHORS: - Ridding A, Williams J

INSTITUCIÓN / INSTITUTION: - University of Liverpool, Liverpool, UK. 

RESUMEN / SUMMARY: - Historically, research exploring the impact of having a child with an Intellectual Disability (ID), has focussed exclusively on mothers. The present study aimed to investigate fathers’ experiences of parenting a child with Down’s syndrome (DS), their contributions, influences on family functioning and inclusion in their child’s support provision. METHOD: Semi-structured interviews were conducted with 15 fathers. Interviews were analysed using Grounded Theory (GT). RESULTS: Fathers’ adjustment appeared to be on a fluid trajectory with three key categories influencing this: “Accommodating the Child,” “Adapting the Parental/Spousal Role” and “Adapting Society.” CONCLUSIONS: The accounts uncovered fathers’ adjustment trajectory to parenting a child with DS, concluding that despite practical and emotional challenges, fathers employed strategies to achieve positive adjustment. Fathers identified the need for services to recognize their role and involve them in their child’s support provision. Implications for clinical practice and future research are discussed.

TÍTULO / TITLE:   - Building and Connecting: Family Strategies for Developing Social Support Networks for Adults With Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Fam Nurs. 2019 Jan 24:1074840718823578. doi: 10.1177/1074840718823578.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/1074840718823578

AUTORES / AUTHORS: - Roll AE; Bowers BJ

INSTITUCIÓN / INSTITUTION: - University of Applied Sciences, Bochum, Germany. 

RESUMEN / SUMMARY: - Being embedded in social networks is crucial for well-being and health. While this is particularly the case for people with Down syndrome (DS), our knowledge of how their support networks are developed is limited. This article investigates the role of family members in developing and maintaining the social support networks of their adult children with DS. Based on 29 interviews with family members, a grounded theory study was conducted. The Family Building and Connecting (BAC) framework was developed, which distinguishes a “building” and a “connecting” approach. The building approach includes strategies that rely on family members and close friends for building a support network for the person with DS. The connecting approach includes strategies that connect the person with DS to external and often professional resources and services. Distinguishing these approaches is important for future research and for strengthening the support networks of people with DS and their families.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Sleep problems in adults with Down syndrome and their family carers.

Enlace al Resumen

REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2019 Jan 28. doi: 10.1111/jar.12572.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12572

AUTORES / AUTHORS: - Stores RJ

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Sleep disturbance is common and can have harmful psychological and physical effects. While sleep problems in children with Down syndrome (DS) have received a reasonable amount of attention, very little has been written about this topic in adults with DS. METHOD: The present study consisted of an online survey completed by 100 family carers of adults with DS. RESULTS: High rates of sleep problems of different types were reported in the adults with DS comparable to those found in children with DS in previous research. Significant associations were found between sleep problems and body mass index, excessive daytime sleepiness and a range of health and psychological problems. Low rates of treatments for sleep problems were reported. The majority of family caregivers felt their own sleep was affected. CONCLUSIONS: Sleep problems in adults with DS are common and varied. Assessment and treatment of such problems are likely to improve quality of life.

TÍTULO / TITLE:   - Sleep and sleep disordered breathing in children with down syndrome: Effects on behaviour, neurocognition and the cardiovascular system.

Enlace al Resumen

REVISTA / JOURNAL:    - Sleep Med Rev. 2018 Nov 22;44:1-11. doi: 10.1016/j.smrv.2018.11.002.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.smrv.2018.11.002

AUTORES / AUTHORS: - Horne RS; et al.

INSTITUCIÓN / INSTITUTION: - The Ritchie Centre, Hudson Institute of Medical Research and Department of Paediatrics, Monash University, Melbourne, Australia.  

RESUMEN / SUMMARY: - Down syndrome (DS), the most common human chromosomal malformation, has an estimated annual incidence of one in 1000 live births worldwide. Sleep problems are common in children with DS, reported by parents in up to 65% of school-aged children, significantly higher rates than in typically developing (TD) children. Problems include difficulty in sleep initiation and maintenance together with obstructive sleep apnoea (OSA) which affects up to over 90%, of DS children compared with 1-5% in the general paediatric population. Any sleep problem has the potential to exert significant negative effects on daytime behaviour, learning and quality of life in TD children and there is now a growing body of evidence that children with DS are similarly affected. In addition to adverse effects on daytime functioning, OSA has adverse effects on the cardiovascular system and this is a particularly significant issue given the high rates of hypertension and premature cardiac disease in people with DS. This review discusses the effects of sleep problems and OSA on daytime functioning and cardiovascular function in children with DS and evidence of the effectiveness of treatment in improving outcomes and quality of life for these children.

Surgery - Cirugía

TÍTULO / TITLE:   - Dynamic MRI in the Evaluation of Atlantoaxial Stability in Pediatric Down Syndrome Patients

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Neurosurg. 2019 Jan 24:1-9. doi: 10.1159/000495788.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000495788

AUTORES / AUTHORS: - Tu A;et al

INSTITUCIÓN / INSTITUTION: - Children’s Hospital of Los Angeles, Los Angeles, California 

RESUMEN / SUMMARY: - Down syndrome is the most common inherited disorder. Some patients develop atlantoaxial instability. Existing screening guidelines were developed prior to availability of MRI. We present predictors for deficit using dynamic MRI of the craniocervical junction. METHODS: A retrospective review of Down syndrome patients from 2001 to 2015 was carried out. Patients were considered symptomatic if they had clinical deficits or signal change on MRI. Measurements were taken at the atlantoaxial junction and structural abnormalities noted. Analysis was performed with SPSS. RESULTS: A total of 36 patients were included. Patients averaged 93 months of age with a follow-up of 57 months. No asymptomatic patients developed myelopathy during follow-up. During dynamic imaging, symptomatic patients had greater changes in space available for the cord (SAC) (5.2 vs. 2.7 mm; p < 0.001) and atlantodental interval (ADI) (2.8 vs. 1.3 mm; p = 0.04). These patients were also more likely to have a bony anomaly (50 vs. 13%; p = 0.03). CONCLUSION: This study characterizes the range of motion seen on dynamic MRI and provides parameters that can be used to distinguish patients at risk for neurologic injury. Changes greater than 3 mm in ADI or 5 mm in SAC during dynamic MRI or any bony abnormality warrants further investigation. Patients without these features may be able to avoid an unnecessary intervention.

TÍTULO / TITLE:   - Down Syndrome and Postoperative Complications in Children Undergoing Intestinal Operations.

Enlace al Resumen

REVISTA / JOURNAL:    - J Pediatr Surg. 2018 Dec 13. pii: S0022-3468(18)30789-9. doi: 10.1016/j.jpedsurg.2018.11.013.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpedsurg.2018.11.013

AUTORES / AUTHORS: - Cairo SB; et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Surgery, John R. Oishei Children’s Hospital, Buffalo, NY.  

RESUMEN / SUMMARY: - This paper intends to evaluate the association between Down Syndrome (DS) and postoperative medical and surgical complications and inpatient postoperative mortality in pediatric patients undergoing intestinal operations. METHODS: The 2012 Kids’ Inpatient Database was queried to compare short-term postoperative medical and surgical complications and in-patient mortality among patients with DS undergoing intestinal operations to a cohort without DS using inverse probability weighting. Subset analysis was performed for patients undergoing intestinal operations exclusive of gastrostomy placement. Adverse treatment effects were calculated for the outcomes of interest. RESULTS: Of 17,026 pediatric patients undergoing intestinal operations, 444 had DS. In unadjusted analysis, medical complications (urinary tract infection, deep venous thrombosis, sepsis, pneumonia) occurred in 7.9% of patients with DS, compared to 14.1% of those without (p<0.001). Surgical complications (wound disruption, hemorrhage, superficial or deep wound infection) occurred in 3.5% of patients with DS, compared to 4.6% of those without (p=0.34), and in-patient mortality occurred in 0.3% of patients with DS, compared to 2.7% of those without (p=0.009). Adverse treatment effects (ATE) calculated after inverse probability weighting demonstrated no difference for medical or surgical complications but a significantly decreased mortality with DS. CONCLUSIONS: Contrary to common perception and data extrapolated from the adult literature, pediatric patients with DS have neither higher medical nor surgical complication rates after intestinal operations. Similar to patients undergoing congenital heart surgery, pediatric patients with DS have a lower postoperative inpatient mortality after these general operations compared to those without DS. Mechanisms influencing risks in DS patient remain unknown.

TÍTULO / TITLE:   - Morphologic variations of the second cervical vertebra in Down syndrome compared with age-matched peers.

Enlace al Resumen

REVISTA / JOURNAL:    - J Neurosurg Spine. 2018 Nov 1:1-7. doi: 10.3171/2018.8.SPINE18750.

Enlace a la Editora de la Revista http://dx.doi.org/10.3171/2018.8.SPINE18750

AUTORES / AUTHORS: - Hofler RC; et al

INSTITUCIÓN / INSTITUTION: - Departments of Neurosurgery and Neuroradiology, Loyola University Medical Center, Maywood. 

RESUMEN / SUMMARY: - Atlantoaxial instability is an important cause of pain and neurological dysfunction in patients with Down syndrome (DS), frequently requiring instrumented fusion of the upper cervical spine. This study provides a quantitative analysis of C2 morphology in DS patients compared with their peers without DS to identify differences that must be considered for the safe placement of instrumentation.METHODSA retrospective chart review identified age-matched patients with and without DS with a CT scan of the cervical spine. Three-dimensional reconstructions of these scans were made with images along the axis of, and perpendicular to, the pars, lamina, facet, and transverse foramen of C2 bilaterally. Two of the authors performed independent measurements of anatomical structures using these images, and the average of the 2 raters’ measurements was recorded. Pedicle height and width; pars axis length (the distance from the facet to the anterior vertebral body through the pars); pars rostrocaudal angle (angle of the pars axis length to the endplate of C2); pars axial angle (angle of the pars axis length to the median coronal plane); lamina height, length, and width; lamina angle (angle of the lamina length to the median coronal plane); and transverse foramen posterior distance (the distance from the posterior wall of the transverse foramen to the tangent of the posterior vertebral body) were measured bilaterally. Patients with and without DS were compared using a mixed-effects model accounting for patient height.RESULTSA total of 18 patients with and 20 patients without DS were included in the analysis. The groups were matched based on age and sex. The median height was 147 cm (IQR 142-160 cm) in the DS group and 165 cm (IQR 161-172 cm) in the non-DS group (p < 0.001). After accounting for variations in height, the mean pars rostrocaudal angle was greater (50.86 degrees vs 45.54 degrees , p = 0.004), the mean transverse foramen posterior distance was less (-1.5 mm vs +1.3 mm, p =

Therapeutics - Terapéutica

TÍTULO / TITLE:   - Down syndrome: Neurobiological alterations and therapeutic targets.

Enlace al Resumen

REVISTA / JOURNAL:    - Neurosci Biobehav Rev. 2019 Jan 4;98:234-255. doi: 10.1016/j.neubiorev.2019.01.001.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neubiorev.2019.01.001

AUTORES / AUTHORS: - Vacca RA; et al.

INSTITUCIÓN / INSTITUTION: - Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Council of Research, Bari, Italy. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a genetic disease that occurs due to an aneuploidy of human chromosome 21. Trisomy of chromosome 21 is a primary genetic cause of developmental abnormalities leading to cognitive and learning deficits. Impairments in GABAergic transmission, noradrenergic neuronal loss, anomalous glutamatergic transmission and N-methyl-d-aspartate receptor signalling, mitochondrial dysfunction, increased oxidative stress and inflammation, differentially expressed microRNAs, increased expression of crucial chromosome 21 genes, and DNA hyper-methylation and hyperactive homocysteine trans-sulfuration pathway, are common incongruities that have been reported in DS and might contribute to cognitive impairment and intellectual disability. This review provides an update on metabolic and neurobiological alterations in DS. It also provides an overview of the currently available pharmacological therapies that may influence and/or reverse these alterations in DS.

Education - Educación

TÍTULO / TITLE:   - Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Med Genet A. 2019 Jan;179(1):85-93. doi: 10.1002/ajmg.a.60685. Epub 2018 Dec 20.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.60685

AUTORES / AUTHORS: - Spiridigliozzi GA, Goeldner C; ... Liogier dArdhuy X

INSTITUCIÓN / INSTITUTION: - F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience, Roche Innovation Center Basel, Basel, Switzerland. 

RESUMEN / SUMMARY: - Measures of adaptive behavior are important in the assessment and treatment of individuals with intellectual disabilities (ID). The purpose of the current study was to evaluate the stability of an established and a novel measure of adaptive behavior over time, and their suitability as outcome measures in clinical trials targeting individuals with Down syndrome (DS). This 6-month, longitudinal, noninterventional, multinational study included adolescents (12-17 years) and adults (18-30 years) with DS. Participants were from seven countries (11 different sites) with English, Spanish and French as their native language. The Vineland Adaptive Behavior Scales-II (VABS-II) and a newly developed Clinician Global Impression (CGI) scale were administered at baseline, 1 and 6 months. Adults had lower composite standard scores on all domains of the VABS-II compared with adolescents. The communication domain was a weakness relative to the socialization and daily living skills domains on the VABS-II and the CGI-Severity scale. These findings were stable over 6 months, as exhibited by high intraclass correlations (>0.75). These results provide valuable baseline data for use in trial design and endpoint selection for studies including individuals with DS.

TÍTULO / TITLE:   - Parenting behaviour and executive function in children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Dec 10. doi: 10.1111/jir.12575.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12575

AUTORES / AUTHORS: - Schworer E Fidler DJ Lunkenheimer E; Daunhauer LA

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Pennsylvania State University, State College, PA, USA. 

RESUMEN / SUMMARY: - Parenting behaviours influence many domains of child development, and recent work has demonstrated the specific effects of parenting on the development of executive function (EF) abilities. The relationship between parent-child interaction patterns and EF has been examined in typically developing (TD) children but has not yet been examined in dyads where the child has a diagnosis of Down syndrome (DS). METHOD: The current study examines the differences in patterns of parenting behaviours between DS dyads and dyads with TD children equated on nonverbal mental age. DS dyads (n = 42), child ages 59 to 118 months, and TD dyads (n = 28), child ages 30 to 49 months, participated in a modified version of the Parent-Child Challenge Task. Parent directive and teaching behaviours were coded, along with child compliance and noncompliance. Child participants also completed a laboratory measure of inhibition and working memory, and parents completed the Behaviour Rating Inventory of Executive Function-Preschool. RESULTS: There was a greater frequency of parenting directives and child compliance in the DS dyads, and parents of children with DS were more likely to follow child compliance with directives than parents of TD children. In both groups, parenting directive behaviour was a significant predictor of child EF laboratory performance. CONCLUSIONS: Results characterise the relationship between specific parenting behaviours and child EF in DS and TD dyads. The implications for parent training and intervention are discussed.

TÍTULO / TITLE:   - Motor and cognitive development of children with Down syndrome: The effect of acquisition of walking skills on their cognitive and language abilities.

Enlace al Resumen

REVISTA / JOURNAL:    - Brain Dev. 2018 Nov 28. pii: S0387-7604(18)30564-3. doi: 10.1016/j.braindev.2018.11.008.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.braindev.2018.11.008

AUTORES / AUTHORS: - Yamauchi Y; Aoki S; et al.

INSTITUCIÓN / INSTITUTION: - Center for Health and Environmental Risk Research, National Institute for Environmental Studies, Japan.  

RESUMEN / SUMMARY: - This study investigated the relationship between motor and cognitive/language development in children with Down syndrome (DS). We also tested the hypothesis that acquisition of walking skills facilitates later cognitive/language development. METHODS: Participants were 156 children with DS who were less than 48months old and had undergone a health checkup by medical doctors and received rehabilitation treatment between April 2013 and March 2017 in Yokohama, Japan. To assess their development, the Kyoto Scale of Psychological Development (KSPD) 2001 was used, which measures development in three subdomains: Posture-Motor (P-M), Cognitive-Adaptive (C-A), and Language-Social (L-S). To investigate the relationship between motor and cognitive/language development, partial correlation analyses were conducted that controlled for participants’ age. To test the effect of achieving walking skills, regression analyses were conducted using only data from participants who took the KSPD at least twice and could not walk at the initial test. RESULTS: P-M developmental age (DA) was significantly and positively correlated with both C-A DA and L-S DA in children 1-3years old. The relationship strengthened with increased age. Acquisition of walking skills had a significant positive effect on both the C-A DA and L-S DA at the second test when controlling for the C-A DA and L-S DA at the first test and age at the second test. CONCLUSION: Motor development was correlated with both cognitive and language development in young children with DS. Results also suggested that achievement of walking could facilitate later cognitive/language development in children with DS.

TÍTULO / TITLE:   - Abstraction of tactile properties by individuals with autism and down syndrome using a picture-based communication system.

Enlace al Resumen

REVISTA / JOURNAL:    - J Appl Behav Anal. 2018 Dec 7. doi: 10.1002/jaba.526.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/jaba.526

AUTORES / AUTHORS: - Belisle J; et al.

INSTITUCIÓN / INSTITUTION: - Southern Illinois University. 

RESUMEN / SUMMARY: - The present study evaluated the efficacy of a set of procedures for bringing tact extensions of abstract tactile properties under stimulus control. Two participants with disabilities who communicated via a picture-based communication system received reinforcement for tacts of tactile properties of four wet/dry and four hard/soft stimuli. Test trials were conducted to evaluate the extent to which the participants’ correct responding generalized to novel stimuli with the same tactile properties. The results suggest that the procedures were effective in bringing tact extensions of abstract tactile properties under stimulus control. Both participants’ correct responding generalized to a set of novel stimuli. Mastery level responding to training and test targets maintained for 2 weeks following training. The results provide further evidence supporting the use of DTT to teach stimulus abstraction to nonvocal verbal individuals who use augmentative forms of communication.

TÍTULO / TITLE:   - Verb production by individuals with Down syndrome during narration.

Enlace al Resumen

REVISTA / JOURNAL:    - Res Dev Disabil. 2019 Feb;85:82-91. doi: 10.1016/j.ridd.2018.11.007. Epub 2018 Nov 27.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2018.11.007

AUTORES / AUTHORS: - Loveall SJ; et al.

INSTITUCIÓN / INSTITUTION: - University of Mississippi, United States; University of Alabama, United States. 

RESUMEN / SUMMARY: - Despite research identifying verb knowledge as a strong predictor of later syntactic skills in typical development, virtually no research has examined verb development in Down syndrome. AIMS: The purpose of this study was to examine verb production (density, diversity, and type-token ratios) by individuals with Down syndrome in the context of story generation relative to two comparison groups - nonverbal cognitive ability level matches with typical development and chronological age matches with mixed-etiology intellectual disability. METHODS AND PROCEDURES: Thirty-five participants with Down syndrome (11-21 years), 27 participants with intellectual disability (13-20 years), and 29 participants with typical development (4-6 years) completed a narrative story generation task. Transcripts were coded and analyzed for verb production. OUTCOMES AND RESULTS: Examining overall verb production, participants with Down syndrome produced narratives with less verb density than participants with typical development and had smaller verb type-token ratios than participants with intellectual disability. Upon examining lexical verb production, participants with Down syndrome produced narratives with less lexical verb density than participants with typical development. CONCLUSIONS AND IMPLICATIONS: The results indicate that individuals with Down syndrome have a developmentally appropriate diversity of verbs in their lexicon but are not using verbs as frequently as comparison groups.

TÍTULO / TITLE:   - Relation between processing facial identity and emotional expression in typically developing school-age children and those with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Appl Neuropsychol Child. 2019 Jan 15:1-14. doi: 10.1080/21622965.2018.1552867.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/21622965.2018.1552867

AUTORES / AUTHORS: - Barisnikov K et al

INSTITUCIÓN / INSTITUTION: - Child Clinical Neuropsychology Unit, FPSE , University of Geneva , Geneva , Switzerland. 

RESUMEN / SUMMARY: - The main purposes of this research were to examine the relation between the processing of face identity and emotion expressions and then discern the significance of emotional expressions using Bruce et al. tasks. Two studies were conducted. Study 1 examined 225 typically developing (TD) children age 4 to 12. Results suggested that early recognition of complete faces and interpretation of emotional expression might depend on local processing abilities, while the recognition of masked faces and emotion expression matching seemed to share configural processing. Study 2 compared 22 children with Down syndrome (DS) to two TD groups matched on mental age (MA group) and chronological age (CA group). Results showed that children with DS processed the identity of complete faces (local processing) similarly to the MA and CA groups. In contrast, their performances for masked faces (configural processing) indicated a developmental delay as they were only comparable to the MA group. Children with DS were also able to identify the emotion expressions according to labels as well as the two control groups, while they had more difficulties on the matching condition. Furthermore, specific difficulties in processing the surprise expression were observed, rather than general difficulties in encoding emotion expressions. Finally, their performances on emotion matching tasks seemed to be supported by local information processing, which might explain their lower scores compared to CA controls that mainly used configural information. These results could aid in the development of targeted interventions for DS to improve their social skills.

TÍTULO / TITLE:   - The understanding of complex syntax in children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Wellcome Open Res. 2018 Nov 1;3:140. doi: 10.12688/wellcomeopenres.14861.1. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.12688/wellcomeopenres.14861.1

AUTORES / AUTHORS: - Frizelle P et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with poor language skills that seem disproportionate to general nonverbal ability, but the nature and causes of this deficit are unclear. We assessed how individuals with DS understand complex linguistic constructions, and considered how cognitive ability, memory and hearing level impact the ability of those with DS to process these sentence types. Methods: There were three groups participating in the study: children with DS (n = 33) and two control groups composed of children with cognitive impairment of unknown aetiology (CI) (n = 32) and children with typical development (n = 33). Both groups were matched to those with DS on cognitive ability. Using a newly devised animation task, we examined how well individuals with DS (n = 33) could understand relative clauses, complement clauses and adverbial clauses compared to children with CI and typically developing controls. Participants also completed the Test for the Reception of Grammar-2, three measures of memory (forward and backward digit recall, visuo-spatial memory) and a hearing screen. Results: Results indicated that (1) with the exception of intransitive subject relative clauses, children with DS performed at floor on all other complex sentences, (2) they performed at a significantly lower level than both control groups, and (3) DS status accounted for a significant proportion of the variance over and above memory skills. Conclusions: Our findings suggest that children with DS have a disproportionate difficulty understanding complex sentences compared to two control groups matched on mental age. Furthermore, their understanding of syntax is not completely explained by poor cognitive or memory skills, rather it appears to be a specific deficit that may distinguish children with DS from other neurodevelopmental disorders.

 Realizar busqueda