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Aging - Envejecimiento

TÍTULO / TITLE:   - Frontal-subcortical behaviors during Alzheimer’s disease in individuals with Down syndrome.

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REVISTA / JOURNAL:    - Neurobiol Aging. 2019 Jun;78:186-194. doi: 10.1016/j.neurobiolaging.2019.02.028. Epub 2019 Mar 11.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neurobiolaging.2019.02.028

AUTORES / AUTHORS: - Fonseca LM; et al.

INSTITUCIÓN / INSTITUTION: - Old Age Research Group, PROTER, Department and Institute of Psychiatry, University of Sao Paulo School of Medicine, FMUSP, Sao Paulo, Brazil; Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, Un 

RESUMEN / SUMMARY: - There is evidence that frontal-subcortical circuits play an important role in the initial presentation of dementia in Down syndrome (DS), including changes in behavior, a decline in working memory and executive dysfunction. We evaluated 92 individuals with DS (>/=30 years of age), divided into 3 groups by diagnosis-stable cognition, prodromal dementia, and Alzheimer’s disease. Each individual was evaluated with an executive protocol developed for people with intellectual disabilities and was rated for behaviors related to frontal lobe dysfunction (disinhibition, executive dysfunction, and apathy) by an informant using the Frontal Systems Behavior Scale. Informant-reported behaviors related to frontal lobe dysfunction were found to correlate negatively with executive function performance. Disinhibition and executive dysfunction were associated with the clinical stage of dementia. The odds of having Alzheimer’s disease increased in parallel with increases in the domain and total Frontal Systems Behavior Scale scores (p

TÍTULO / TITLE:   - Validating the Cognitive Scale for Down Syndrome (CS-DS) to Detect Longitudinal Cognitive Decline in Adults With Down Syndrome.

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REVISTA / JOURNAL:    - Front Psychiatry. 2019 Apr 16;10:158. doi: 10.3389/fpsyt.2019.00158. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fpsyt.2019.00158

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, United Kingdom 

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with intellectual disability and an ultra-high risk of developing dementia. Informant ratings are invaluable to assess abilities and related changes in adults with DS, particularly for those with more severe intellectual disabilities and/or cognitive decline. We previously developed the informant rated Cognitive Scale for Down Syndrome (CS-DS) to measure everyday cognitive abilities across memory, executive function, and language domains in adults with DS, finding CS-DS scores are a valid measure of general abilities, and are significantly lower for those with noticeable cognitive decline compared to those without decline. To further test the validity of the CS-DS in detecting changes associated with cognitive decline we collected longitudinal data across two time points, approximately 1.5-2 years apart, for 48 adults with DS aged 36 years and over. CS-DS total scores (78.83 +/- 23.85 vs. 73.83 +/- 25.35, p = 0.042) and executive function scores (46.40 +/- 13.59 vs. 43.54 +/- 13.60, p = 0.048) significantly decreased between the two time points, with scores in the memory domain trending towards a significant decrease (22.19 +/- 8.03 vs. 20.81 +/- 8.63, p = 0.064). Adults with noticeable cognitive decline at follow-up showed a trend to significantly greater change in total scores (7.81 +/- 16.41 vs. 3.59 +/- 16.79, p = 0.067) and significantly greater change in executive function scores (5.13 +/- 9.22 vs. 1.72 +/- 9.97, p = 0.028) compared to those without decline. Change in total scores showed significant correlations with change in scores from other informant measures of everyday adaptive abilities and symptoms associated with dementia, and participant assessment of general cognitive abilities (all p < 0.005), while change in memory scores (R (2) = 0.28, p = 0.001) better predicted change in participant cognitive assessment scores than change in executive function (R (2) = 0.15, p = 0.016) or language (R (2) = 0.15, p = 0.018) score

TÍTULO / TITLE:   - Lysosomal dysfunction in Down syndrome is APP-dependent and mediated by APP-betaCTF (C99).

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REVISTA / JOURNAL:    - J Neurosci. 2019 May 1. pii: JNEUROSCI.0578-19.2019. doi: 10.1523/JNEUROSCI.0578-19.2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1523/JNEUROSCI.0578-19.2019

AUTORES / AUTHORS: - Ying J; ... Nixon RA;

INSTITUCIÓN / INSTITUTION: - Center for Dementia Research, Nathan Kline Institute for Psychiatric Research, Orangeburg, NY  

RESUMEN / SUMMARY: - Lysosomal failure underlies pathogenesis of numerous congenital neurodegenerative disorders and is an early and progressive feature of Alzheimer’s disease (AD) pathogenesis. Here, we report that lysosomal dysfunction in Down Syndrome (Trisomy 21), a neurodevelopmental disorder and form of early onset AD, requires the extra gene copy of amyloid precursor protein (APP) and is specifically mediated by the beta cleaved carboxy terminal fragment of APP (APP-betaCTF, C99). In primary fibroblasts from individuals with Down Syndrome (DS), lysosomal degradation of autophagic and endocytic substrates is selectively impaired causing them to accumulate in enlarged autolysosomes/lysosomes. Direct measurements of lysosomal pH uncovered a significant elevation (0.6 units) as a basis for slowed LC3 turnover and the inactivation of cathepsin D (CTSD) and other lysosomal hydrolases known to be unstable or less active when lysosomal pH is persistently elevated. Normalizing lysosome pH by delivering acidic nanoparticles to lysosomes ameliorated lysosomal deficits, while RNA sequencing analysis excluded a transcriptional contribution to hydrolase declines. Cortical neurons cultured from the Ts2 mouse model of DS exhibited lysosomal deficits similar to those in DS cells. Lowering APP expression with siRNA or BACE1 inhibition reversed cathepsin deficits in both fibroblasts and neurons. Deleting one BACE1 allele from adult Ts2 mice had similar rescue effects in vivo The modest elevation of endogenous APP-betaCTF needed to disrupt lysosomal function in DS is relevant to sporadic AD where APP-betaCTF, but not APP, is also elevated. Our results extend evidence that impaired lysosomal acidification drives progressive lysosomal failure in multiple forms of AD.SIGNIFICANCE STATEMENTDown Syndrome (trisomy 21) (DS) is a neurodevelopmental disorder invariably leading to early-onset Alzheimer’s Disease (AD). We showed in cells from DS individuals and neurons of DS models that one extra copy of a nor

TÍTULO / TITLE:   - Associations between electroencephalography power and Alzheimer’s disease in persons with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 Apr 25. doi: 10.1111/jir.12627.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12627

AUTORES / AUTHORS: - Musaeus CS

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Danish Dementia Research Centre (DDRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. 

RESUMEN / SUMMARY: - It is complicated to diagnose dementia in persons with Down syndrome (DS). Older studies have, however, demonstrated low-frequency activity in electroencephalography (EEG) in persons with concurrent DS and Alzheimer’s disease (DS-AD). The aim of this study was to examine whether it was possible to identify AD-associated changes (increased high-frequency power and decreased low-frequency power) in persons with DS-AD compared with DS. METHODS: We included 21 persons with DS-AD and 16 with DS without cognitive deterioration assessed by the informant-based Dementia Screening Questionnaire in Intellectual Disability. EEG was recorded for all participants. Absolute power for each electrode and global power were calculated for all frequency bands for both eyes open and eyes closed. RESULTS: For global power in the eyes closed condition, we found an increased global slow-frequency activity and a decreased global high-frequency activity in DS-AD compared with DS. In addition, we found a significant difference in the global alpha/delta ratio with the largest difference found for global alpha power in DS-AD compared with DS. CONCLUSIONS: In the current study, we found that changes known to be associated with AD could also be identified when comparing DS-AD with DS using quantitative EEG. In general, these findings suggest that EEG might be a useful tool in diagnosing AD in persons with DS, but larger studies are needed.

TÍTULO / TITLE:   - Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients.

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REVISTA / JOURNAL:    - PLoS One. 2019 Apr 5;14(4):e0211575. doi: 10.1371/journal.pone.0211575. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0211575

AUTORES / AUTHORS: - Shinomoto M; et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan. 

RESUMEN / SUMMARY: - People with Down syndrome (DS) are at high risk of developing Alzheimer disease (AD) with aging. The diagnosis and treatment trials are hampered by a lack of reliable blood biomarkers. Plasma neurofilament light chain (NfL) is one of the established biomarkers of AD, suggesting that it may be useful as an indicator of dementia in DS patients. The aims of this study were: 1) to examine whether plasma levels of NfL in DS patients are correlated with decreased adaptive behavior scores one year after sample collection, and 2) to compare plasma levels of NfL in adults with DS and an age-matched healthy control population. In this study, plasma levels of NfL in 24 patients with DS and 24 control participants were measured by the single-molecule immunoarray (Simoa) method. We observed significantly increased plasma NfL levels in the DS compared with the control group. There was a significant correlation between age and levels of plasma NfL in both groups. This age-dependent elevation was steeper in the DS compared with the control group. Moreover, elevated plasma NfL was associated with decreased adaptive behavior scores one year later, after age-adjustment. Previously reported blood-based biomarkers available in Simoa for DS, plasma total tau and phosphorylated tau, were not significantly correlated with the annual decrement of adaptive behavior scores after age-adjustment. These results suggest that plasma NfL has the potential to serve as an objective biomarker to predict dementia in adult DS patients.

TÍTULO / TITLE:   - Aging Individuals With Down Syndrome and Dementia as Teachers: Learnings from Staffin a Developmental Disability Program in Long-Term Care.

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REVISTA / JOURNAL:    - J Gerontol Nurs. 2019 May 1;45(5):17-22. doi: 10.3928/00989134-20190328-02.

Enlace a la Editora de la Revista http://dx.doi.org/10.3928/00989134-20190328-02

AUTORES / AUTHORS: - Lane AM et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Older adults with Down syndrome (DS) and dementia are an emerging sub-population. With much longer life spans than decades ago, issues have arisen as to where these aging adults will live and how nurses and other staff in facilities can provide effective care to these individuals. The current article presents a research study that examined the learnings of nurses and staff members working within a western Canadian program for older adults with DS and dementia. These learnings include: the importance of learning from each other; importance of collaboration; how individuals with developmental disabilities communicate; older adults with DS and dementia differ from older adults with dementia; and residents’ impact on staff. [Journal of Gerontological Nursing, 45(5), 17-22.].

Cardiology - Cardiología

TÍTULO / TITLE:   - Congenital Cardiovascular Anomalies among Cases of Down Syndrome: A Hospital Based Review of Cases in TikurAnbessa Specialized Hospital, Ethiopia.

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REVISTA / JOURNAL:    - Ethiop J Health Sci. 2019 Mar;29(2):165-174. doi: 10.4314/ejhs.v29i2.3.

Enlace a la Editora de la Revista http://dx.doi.org/10.4314/ejhs.v29i2.3

AUTORES / AUTHORS: - Muntha A; Moges T

INSTITUCIÓN / INSTITUTION: - Ras Desta Hospital, Addis Ababa, Ethiopia. 

RESUMEN / SUMMARY: - In developing countries, infants with Down syndrome and cardiac defect are at increased risk of dying. Congenital heart diseases occur in 40-50% of affected infants. Endocardial cushion defect accounts for the most. Pattern of cardiac defects in Down syndrome vary with ethnicity. The current study aims to determine pattern of cardiac defects and survival of patients in our institution. Methods: Hospital based review of cases, between April 2010 and may 2015 were made. Data were analyzed using SPSS version 20 software quantitatively with plotted Kaplan Meier survival curve done. Results: Down syndrome cases, 53 male and 63 females with cardiac anomalies, were described. Patent ductus arteriosus occurs in 57(36.5%), Ventricular septal defect in 31(19.9%), Atrial septal defect in 30(19%), Atrio-ventricular septal defect in 29(18.6%),Tetralogy of Fallot in 4(2.6%) and others in 5(3.2%) cases. Cases were alive, lost to follow-up and died in 59, 35 and 22 cases, respectively. The overall death rate was 19% and two-third of them died during infancy with females dying at an earlier age than males. Pulmonary hypertension, hypothyroidism and gastrointestinal disorders were diagnosed in 46, 21 and 4 of the cases, respectively. Reasons for lost to follow-up were discussed. Conclusion: The pattern of cardiac anomalies in our study among Down syndrome cases is dominated by Patent ductus arteriosus while, the overall survival of cases is guarded as majority of deaths occurred during infancy.

TÍTULO / TITLE:   - Peripheral blood flow regulation in response to sympathetic stimulation in individuals with Down syndrome.

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REVISTA / JOURNAL:    - Artery Res. 2018 Dec;24:16-21. doi: 10.1016/j.artres.2018.10.001. Epub 2018 Oct 24.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.artres.2018.10.001

AUTORES / AUTHORS: - Hilgenkamp TIM; et al

INSTITUCIÓN / INSTITUTION: - Integrative Physiology Laboratory, Department of Kinesiology and Nutrition, University of Illinois at Chicago, 1919 West Taylor Street, AHSB (MC 517), Chicago, IL 60612, United States of America. 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) experience autonomic dysfunction, with reduced sympathetic and parasympathetic control. This results in alterations in resting heart rate and blood pressure and attenuated responses to sympathoexcitatory stimuli. It is unknown to what extent this impacts the regulation of peripheral blood flow in response to sympathetic stimuli, which is an important prerequisite to exercise and perform work. Therefore, we aimed to investigate differences in peripheral blood flow regulation in response to lower body negative pressure (LBNP) between individuals with and without DS. Methods: Participants (n=10 males with DS and n=11 male controls, mean age 23.7 years +/- 3.2) underwent 5 min of LBNP stimulations (-20 mmHg), after resting supine for 10 min. One minute steady state blood pressure and blood flow at baseline and during LBNP were obtained for analysis. Mean flow velocity and arterial diameters were recorded with ultrasonography; foreram blood flow (FBF), shear rate and forearm vascular conductance (FVC) were calculated using brachial blood pressure measured right before ultrasound recordings. Results: Participants with DS responded differently (consistent with reduced vasoconstrictive control) to the LBNP stimulus (significant ConditionxGroup interaction effect) for mean velocity (p=0.02), FBF (p=0.04), shear rate (p=0.02) and FVC (p=0.03), compared to participants without DS. Conclusion: Young males with DS exhibit reduced peripheral regulation of blood flow in response to LBNP compared to controls, indicating a blunted sympathetic control of blood flow. Further research is necessary to explore the impact of these findings on exercise and work capacity.

Dental - Dental

TÍTULO / TITLE:   - Periodontal status of individuals with Down syndrome: sociodemographic, behavioural and family perception influence.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 May 7. doi: 10.1111/jir.12629.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12629

AUTORES / AUTHORS: - Nuernberg MAA et al

INSTITUCIÓN / INSTITUTION: - Department of Surgery and Integrated Clinic, Division of Periodontology, School of Dentistry, Sao Paulo State University (UNESP), Aracatuba, Brazil. 

RESUMEN / SUMMARY: - The aim of the present study was to assess the periodontal condition of individuals with Down syndrome and the association with sociodemographic and behavioural characteristics and family perception of oral health. METHODS: This cross-sectional observational study was performed at a referral centre for dental assistance to disabled persons in Aracatuba, Brazil. Parents of the individuals were interviewed, and the visible plaque index, bleeding on probing, probing pocket depth and clinical attachment level were recorded by one periodontist in six sites per tooth of all teeth. The individual was the unit of analysis. The significance level was set at 5%. RESULTS: Sixty-four subjects (23.8 +/- 8.3 years old) were included. Eighteen (28.1%) were diagnosed with gingivitis and 46 (71.9%) with periodontitis. In the multiple logistic regression final model, age and self-reported oral hygiene practices were associated with the occurrence of periodontitis. The chance of having periodontitis was 4.7 times higher among individuals older than 20 years and approximately 4 times higher in patients whose oral hygiene was performed by themselves and their parents, compared with those who performed oral hygiene alone. Sex, follow-up time in the centre, education, degree of participants’ dependence, flossing and family history of periodontal disease were not associated with the occurrence of periodontitis. Higher levels of plaque and bleeding were observed for participants with parents reporting bad gingival health (76.2% and 46.9%) and deficient oral hygiene (79.5% and 47.3%). The perception of parents regarding gingival bleeding was correlated with higher bleeding detected clinically (P = 0.01; 50.1%). CONCLUSIONS: The prevalence of periodontitis in individuals with Down syndrome is high and increases with age, even in the face of the parents’ perception about their children’s oral condition.

TÍTULO / TITLE:   - Psychoprophylaxis for oral conscious sedation for dental care in Down syndrome adults with behavioral disorder.

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REVISTA / JOURNAL:    - Spec Care Dentist. 2019 May 3. doi: 10.1111/scd.12382.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/scd.12382

AUTORES / AUTHORS: - Ferrary T et al.

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine (Area Disability), Facultad de Odontologia, Universidad de Buenos Aires, Buenos Aires, Argentina. 

RESUMEN / SUMMARY: - Down syndrome (DS) presents with prevalent diseases in the oral cavity and the need of constant dental care and follow-up. The use of conscious sedation (CS) for dental care in adult DS with behavioral disorders is poorly documented. The aim of this study was to evaluate the effectiveness and safety of CS procedures with oral midazolam using previous psychoprophylaxis sessions in DS adult patients with behavioral disorders. METHODS: Twenty-nine DS adults with behavioral disorders. The patients were managed with psychoprophylaxis followed by oral CS using 15 or 30 mg midazolam. Vital parameters were monitored. The Houpt and Brietkopf and Buttner scales were used. RESULTS: Patients under CS received an initial dose of 15 mg midazolam; however, 51.72% needed a 30 mg dose at the following sessions. Results showed that 71.4% treated with the 15 mg dose had Houpt scale overall behavior scores of 4 or 5, while 93.33% of those receiving 30 mg had scores of 5 or 6 (chi-square = 15.95 p < .01). CONCLUSION: Psychoprophylaxis sessions followed by CS procedures using oral midazolam in adult DS with behavioral disorders were shown to be a useful strategy to perform routine dental treatment safely. Midazolam produces anterograde amnesia, and participants were more cooperative in the following visits.

TÍTULO / TITLE:   - Symmetry of dental agenesis in Down Syndrome children.

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REVISTA / JOURNAL:    - J Dent Sci. 2019 Mar;14(1):61-65. doi: 10.1016/j.jds.2018.04.003. Epub 2018 Nov 30.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jds.2018.04.003

AUTORES / AUTHORS: - Gallo C; et al.

INSTITUCIÓN / INSTITUTION: - Piove di Sacco Hospital, Padova, Italy.;Department of Molecular Medicine, University of Padova, Italy. 

RESUMEN / SUMMARY: - Background/purpose: Down syndrome (DS) may affect the mouth, influencing its function, feeding and hence overall health status. We aim at investigating the frequency and type of dental agenesis in a school-age DS sample, evaluating gender, laterality, upper or lower side, and mono- or bi-laterality. Materials and methods: Oral clinical and radiological exams were performed. Forty-six (20 female and 26 male) panoramic radiographs, done when DS patients were 8-12 years old, were examined, from patients between 3 and 25 years old at the first visit. Results: The percentage of missing teeth was compared with chi-squared test: 65% of patients presented agenesis of one or more teeth. The most frequently missing teeth were the upper left lateral incisor, the lower second premolars and the upper right lateral incisor. Usually, the absence was bilateral. There was no difference between sexes, between mandible and maxilla, either in the left or in the right side. Conclusion: A high occurrence of dental agenesis was observed in DS patients: some teeth were mostly affected and bilateral agenesis was frequent. Due to the high prevalence of teeth agenesis in DS patients, special care is devised for correct development of oral functions and for avoidance of oral pathologies.

TÍTULO / TITLE:   - Dental care in children with Down syndrome: A questionnaire for Belgian dentists.

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REVISTA / JOURNAL:    - Med Oral. Free access to the article (immediately).Bibliographic Citation Medicina Oral: <> Patol Or

Enlace a la Editora de la Revista http://www.medicinaoral.com/volu.htm

AUTORES / AUTHORS: - Descamps I; et al

INSTITUCIÓN / INSTITUTION: - Center for Special Care in Dentistry, Ghent University, De Pintelaan 185 P8, 9000 Gent - Belgium, 

RESUMEN / SUMMARY: - To date, research on the opinions of dentists on the oral health care of children with DS (Down Syndrome) is scarce. MATERIAL AND METHODS: Evaluate the views and knowledge of Belgium dentists regarding dental care of children with DS. An adequate sample of dentists were invited to fill in a validated questionnaire. Results were assessed in 95% confidence interval with p< 0.05 level. RESULTS: A total of 356 questionnaires were returned (177 men, 179 women). Mean age of the dentists was 50.3 years (SD: 11.9) and 75% obtained their degree more than 20 years ago. 72.5% of all dentists replied that they had not been instructed in how to treat children with DS during their dental educational training, whereas this is only the case for 39% of the dentists who obtained their degree less than 10 years ago. Half of the group indicated that additional training and education would be (very) desirable (52.8%). CONCLUSIONS: Dentists don’t seem to feel comfortable in treating children with DS and refer them to a special care dentistry centre in a hospital. It is positive that dentists are in favour of obtaining additional training and education to help them feel more confident in treating children with DS in daily practice. However we must not conclude that because students or qualified dentists received such training that they will automatically treat more patients with special needs.

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Does Tonsillectomy Increase Obesity Risk in Children with Down Syndrome?

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REVISTA / JOURNAL:    - J Pediatr. 2019 May 10. pii: S0022-3476(19)30439-1. doi: 10.1016/j.jpeds.2019.04.019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpeds.2019.04.019

AUTORES / AUTHORS: - Ruiz AG; ... Friedman NR;

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology, University of Colorado School of Medicine and Children’s Hospital-Colorado, Aurora, CO.  

RESUMEN / SUMMARY: - To examine weight changes relative to surgical success in children with Down syndrome and obstructive sleep apnea (OSA). STUDY DESIGN: Retrospective chart review of children with Down syndrome undergoing tonsillectomy from 2005 to 2016 for OSA at a tertiary care children’s hospital. Only patients with pre-and postoperative polysomnogram within 6 months of tonsillectomy were included. Demographics, weight, height, and polysomnogram data were collected. Body mass index (BMI), expressed as a percentage of the 95th percentile (%BMIp95), was calculated for 24 months prior to and following surgery. Pre-and postoperative OSA severity were also recorded. The postoperative obstructive/hypopnea index identified subjects with resolution of obstruction (obstructive/hypopnea index <2 events/hour) or persistent mild/moderate/severe obstructive apnea. Regression analyses were used to compare %BMIp95 pre- and post-tonsillectomy with %BMIp95 by OSA status following tonsillectomy. RESULTS: A total of 78 patients with Down syndrome whose mean age was 5.29 years at time of tonsillectomy were identified. There was no difference between best-fit curves of %BMI p95 pre-and post-tonsillectomy. There was no difference between best-fit curves of %BMI p95 in patients who saw resolution of OSA after tonsillectomy vs patients with residual OSA. CONCLUSIONS: Tonsillectomy neither alters the BMI trajectory of children with Down syndrome, nor changes differentially the risk for obesity in children whose OSA did or did not resolve after surgery.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated.

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REVISTA / JOURNAL:    - Diabetes. 2019 Apr 8. pii: db19-0045. doi: 10.2337/db19-0045.

Enlace a la Editora de la Revista http://dx.doi.org/10.2337/db19-0045

AUTORES / AUTHORS: - Johnson MB et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into beta-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have childhood diabetes with an intermediate HLA association. It is not known if DS can cause PNDM. We found trisomy 21 was 7 times more likely in our PNDM cohort than in the population (13/1522 = 85/10,000 observed vs. 12.6/10,000 expected) and none of the 13 DS-PNDM cases had a mutation in the known PNDM genes which explained 82.9% of non-DS PNDM. Islet autoantibodies were present in 4/9 DS-PNDM patients but DS-PNDM was not associated with polygenic susceptibility to type 1 diabetes. We conclude that trisomy 21 is a cause of autoimmune PNDM that is not HLA associated. We propose that autoimmune diabetes in DS is heterogeneous and includes coincidental type 1 diabetes that is HLA associated and diabetes caused by trisomy 21 that is not HLA associated.

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Feeding and swallowing difficulties in children with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 Apr 4. doi: 10.1111/jir.12617.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12617

AUTORES / AUTHORS: - Anil MA; Shabnam S; Narayanan S

INSTITUCIÓN / INSTITUTION: - Masters in Speech Language Pathology, Department of Speech-Language Pathology, All India Institute of Speech and Hearing, Mysuru, India. 

RESUMEN / SUMMARY: - The anatomical and physiological characteristics such as neuromotor coordination impairments and craniofacial and structural abnormalities frequently interfere with the acquisition of effective oral-motor skills which can in turn result in the development of potential feeding problems and swallowing dysfunction. The present study was undertaken with the aim of assessing the feeding and swallowing problems, if any, in children with Down syndrome in the age range of 2-7 years. METHODS: A questionnaire was formulated and administered on 17 children with Down syndrome (10 females and 7 males) and 47 typically developing children (20 females and 27 males). RESULTS: The present study revealed that feeding difficulties were predominantly present in children with Down syndrome. These difficulties were found in all the three phases of swallow and were greatest for solids followed by liquids. They also had issues with physical, functional and emotional aspects of feeding. Further, the children with Down syndrome exhibited poor orosensorimotor abilities which could have lead to the difficulties in feeding. CONCLUSIONS: The study highlights the importance of including feeding assessment in the evaluation protocol of infants and children with Down syndrome.

TÍTULO / TITLE:   - Parent-reported ease of eating foods of different textures in young children with Down syndrome.

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REVISTA / JOURNAL:    - J Texture Stud. 2019 May 13. doi: 10.1111/jtxs.12410.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jtxs.12410

AUTORES / AUTHORS: - Ross CF et al

INSTITUCIÓN / INSTITUTION: - School of Food Science, Washington State University, Pullman, Washington. 

RESUMEN / SUMMARY: - Food texture has been identified as a significant contributor to feeding problems in children, particularly in children with Down syndrome (DS). This study examined the open-ended survey responses of parents describing which food textures were “easy” or “difficult” for their child with DS. The open-ended responses from the parents about textures and foods they considered “easy” or “difficult” for their child (n = 157) were coded into 26 texture categories. Chewy and firm were more frequently listed as “difficult” textures by parents. Textures found to be cited more frequently as “easy” textures included creamy, crispy/crunchy, dissolvable, mushy, puree, smooth, and soft. Age influenced the citation of specific textures. As age increased, crispy/crunchy, dry, and hard were more likely to be listed as “easy” while lumpy, mushy, and gooey/soggy/wet were less likely be listed as “easy.” For “difficult” textures, as age increased, juicy was more likely to be listed as “difficult” while the textures of creamy, dry, lumpy, and tender were less likely to be “difficult.” While this research provides information as to the food textures children with DS find “easy” or “difficult,” further research is needed to better understand how to expand the variety of textures in the diets of children with DS.

TÍTULO / TITLE:   - Evaluation of the masticatory muscle function, physiological sleep variables, and salivary parameters after electromechanical therapeutic approaches in adult patients with Down syndrome: a randomized

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REVISTA / JOURNAL:    - Trials. 2019 Apr 11;20(1):215. doi: 10.1186/s13063-019-3300-0.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13063-019-3300-0

AUTORES / AUTHORS: - Giannasi LC et al.

INSTITUCIÓN / INSTITUTION: - Center of Biosciences Applied to Patients with Special Health Care Needs (CEBAPE), Institute of Science and Technology, Sao Jose dos Campos Campus, Sao Paulo State University-UNESP, R: Esperanca 265, Sao Paulo, SP, Brazil. 

RESUMEN / SUMMARY: - Center of Biosciences Applied to Patients with Special Health Care Needs (CEBAPE), Institute of Science and Technology, Sao Jose dos Campos Campus, Sao Paulo State University-UNESP, R: Esperanca 265, Sao Paulo, SP, Brazil. SUMMARY: BACKGROUND: There are many comorbidities associated with Down syndrome (DS), including obstructive sleep apnea (OSA) and masticatory muscle alteration. Muscular hypotonia, in particular, of the masticatory and oropharyngeal muscles is one of the main characteristics of individuals with DS, resulting in impairments of speech, swallowing, and mastication in these individuals. In addition, total or partial obstruction of the airways during sleep can occur due to pharyngeal hypotonia, leading to snoring and to OSA. This progressive respiratory disorder is associated with a high risk of morbidity and mortality in individuals with DS. The aim of this research is to assess the therapeutic effects of surface neuromuscular electrical stimulation (NMES), the mastication apparatus (MA), and a mandibular advancement oral appliance (OAm) with an embedded thermosensitive microchip on the functions of masticatory muscles (bilateral masseter and temporal muscles), physiological sleep variables, and salivary parameters in adult patients with DS. METHODS: The patients with DS will be randomly selected and divided into three groups (DS-NMES, DS-MA, and DS-OAm) with a minimum of 10 patients in each group. A thermosensitive microchip will be embedded in the OAm to record its compliance. The therapeutic effects on masticatory muscle function will be investigated through electromyography, a caliper, and a force-transducer device; the sleep variables, in turn, will be evaluated by means of polysomnography. The physicochemical and microbiological properties of the saliva will also be analyzed, including the salivary flow, viscosity, buffer capacity, cortisol levels (susceptibility to psychological and/or physical stress), and Pseudomonas aeruginosa levels (ris

TÍTULO / TITLE:   - Down syndrome mouse models have an abnormal enteric nervous system.

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REVISTA / JOURNAL:    - JCI Insight. 2019 Apr 18;5. pii: 124510. doi: 10.1172/jci.insight.124510.

Enlace a la Editora de la Revista http://dx.doi.org/10.1172/jci.insight.124510

AUTORES / AUTHORS: - Schill EM et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Children with trisomy 21 (Down syndrome [DS]) have a 130-fold increased incidence of Hirschsprung Disease (HSCR), a developmental defect where the enteric nervous system (ENS) is missing from distal bowel (i.e., distal bowel is aganglionic). Treatment for HSCR is surgical resection of aganglionic bowel, but many children have bowel problems after surgery. Post-surgical problems like enterocolitis and soiling are especially common in children with DS. To determine how trisomy 21 affects ENS development, we evaluated the ENS in two DS mouse models, Ts65Dn and Tc1. These mice are trisomic for many chromosome 21 homologous genes, including Dscam and Dyrk1a, which are hypothesized to contribute to HSCR risk. Ts65Dn and Tc1 mice have normal ENS precursor migration at E12.5 and almost normal myenteric plexus structure as adults. However, Ts65Dn and Tc1 mice have markedly reduced submucosal plexus neuron density throughout the bowel. Surprisingly, the submucosal neuron defect in Ts65Dn mice is not due to excess Dscam or Dyrk1a, since normalizing copy number for these genes does not rescue the defect. These findings suggest the possibility that the high frequency of bowel problems in children with DS and HSCR may occur because of additional unrecognized problems with ENS structure.

Genetics - Genética

TÍTULO / TITLE:   - Disentangling the roles of maternal and paternal age on birth prevalence of down syndrome and other chromosomal disorders using a Bayesian modeling approach.

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REVISTA / JOURNAL:    - BMC Med Res Methodol. 2019 Apr 23;19(1):82. doi: 10.1186/s12874-019-0720-1.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12874-019-0720-1

AUTORES / AUTHORS: - Thompson JA

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Multiple neonatal and pediatric disorders have been linked to older paternal ages. Combining these findings with the evidence that many men are having children at much later ages generates considerable public health concern. The risk of paternal age has been difficult to estimate and interpret because children often have parents whose ages are similar and likely to be confounded. Epidemiologic studies often model the conditional effects of paternal age using regression models that typically treat maternal age as linear, curvilinear or as age-band categories. Each of these approaches has limitations. As an alternative, the current study measures age to the nearest year, and fits a Bayesian model in which each parent’s age is given a conditional autoregressive prior (CAR). METHODS: Data containing approximately 12,000,000 birth records were obtained from the United States Natality database for the years 2014 to 2016. Date were cross-tabulated for maternal ages 15-49 years and for paternal ages 15-65 years. A Bayesian logistic model was implemented using conditional autoregressive priors for both maternal and paternal ages modeled separately and jointly for both Down syndrome and chromosomal disorders other than Down syndrome. RESULTS: Models with maternal and paternal ages given CAR priors were judged to be better fitting than traditional models. For Down syndrome, the approach attributed a very large risk to advancing maternal age with the effect of advancing paternal age having a very small sparing effect on birth prevalence. Maternal age was also related to the birth prevalence of chromosomal disorders other than Down syndrome while paternal age was not. CONCLUSIONS: Advancing paternal age was not associated with an increase in risk for either Down syndrome or chromosomal disorders other than Down syndrome.

TÍTULO / TITLE:   - Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic Analysis.

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REVISTA / JOURNAL:    - Z Geburtshilfe Neonatol. 2019 May 27. doi: 10.1055/a-0877-7869.

Enlace a la Editora de la Revista http://dx.doi.org/10.1055/a-0877-7869

AUTORES / AUTHORS: - Nemutlu E; et al.

INSTITUCIÓN / INSTITUTION: - Hacettepe University, Faculty of Pharmacy, Department of Analytical Chemistry, Ankara, Turkey. 

RESUMEN / SUMMARY: - We aimed to configure impaired/altered metabolomic profiles of pregnant women carrying Down syndrome (DS) fetuses. The study involved 21 and 32 pregnant women with DS and euploid fetuses, respectively, as determined by prenatal screening and diagnosis as part of an antenatal care program. Metabolomic analyses were carried out using gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-qTOF-MS) methods. A total of 95 metabolites were identified. GC-MS analysis indicated that levels of 2-hydroxybutyric acid, benzoic acid, nonanoic acid, 3-hydroxybutyric acid, and 2-ketoisocaproic acid were increased in the DS group, where beta-alanine, threonic acid, oxalic acid, alpha-tocopherol, uracil, 2-piperidone, and creatinine were decreased. However, LC-qTOF-MS analysis showed that lipid-related metabolites were decreased in women carrying DS fetuses, whereas creatine, N4-phosphoagmatine, citrate, 2,5-dioxopentanoate, 2-furoate, pyruvate, and fructose levels were increased. Pathway analysis was also performed using metabolites whose levels were significantly altered (p<0.05) between the groups, and the findings indicated that the biosynthesis pathways of aminoacyl-tRNA and “valine-leucine-isoleucine”, and metabolism pathways of “glycine-serine-threonine”, nitrogen, “alanine-aspartate-glutamate”, propanoate, glycerophospholipid, cysteine, methionine, and phenylalanine were significantly altered. Our findings indicate a special type of metabolic status/syndrome in pregnant women with Down syndrome fetuses. It could be speculated that altered metabolic status might influence both gametogenesis and embryogenesis. Down syndrome is a complex genetic disorder that is important to detect prenatally, but may also be prevented by taking necessary precautions prior to pregnancy.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Does Tonsillectomy Increase Obesity Risk in Children with Down Syndrome?

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REVISTA / JOURNAL:    - J Pediatr. 2019 May 10. pii: S0022-3476(19)30439-1. doi: 10.1016/j.jpeds.2019.04.019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.jpeds.2019.04.019

AUTORES / AUTHORS: - Ruiz AG; ... Friedman NR;

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology, University of Colorado School of Medicine and Children’s Hospital-Colorado, Aurora, CO.  

RESUMEN / SUMMARY: - To examine weight changes relative to surgical success in children with Down syndrome and obstructive sleep apnea (OSA). STUDY DESIGN: Retrospective chart review of children with Down syndrome undergoing tonsillectomy from 2005 to 2016 for OSA at a tertiary care children’s hospital. Only patients with pre-and postoperative polysomnogram within 6 months of tonsillectomy were included. Demographics, weight, height, and polysomnogram data were collected. Body mass index (BMI), expressed as a percentage of the 95th percentile (%BMIp95), was calculated for 24 months prior to and following surgery. Pre-and postoperative OSA severity were also recorded. The postoperative obstructive/hypopnea index identified subjects with resolution of obstruction (obstructive/hypopnea index <2 events/hour) or persistent mild/moderate/severe obstructive apnea. Regression analyses were used to compare %BMIp95 pre- and post-tonsillectomy with %BMIp95 by OSA status following tonsillectomy. RESULTS: A total of 78 patients with Down syndrome whose mean age was 5.29 years at time of tonsillectomy were identified. There was no difference between best-fit curves of %BMI p95 pre-and post-tonsillectomy. There was no difference between best-fit curves of %BMI p95 in patients who saw resolution of OSA after tonsillectomy vs patients with residual OSA. CONCLUSIONS: Tonsillectomy neither alters the BMI trajectory of children with Down syndrome, nor changes differentially the risk for obesity in children whose OSA did or did not resolve after surgery.

TÍTULO / TITLE:   - Trends in Obesity and Overweight in Oregon Children With Down Syndrome.

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REVISTA / JOURNAL:    - Glob Pediatr Health. 2019 Apr 2;6:2333794X19835640. doi: 10.1177/2333794X19835640. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177_2333794X19835640

AUTORES / AUTHORS: - Pierce M et al

INSTITUCIÓN / INSTITUTION: - Oregon Health & Science University, Portland, OR, USA. 

RESUMEN / SUMMARY: - Although obesity is a commonly discussed issue in the medical management of children with Down syndrome, there have been no large studies published on its prevalence in the United States or associations with other common comorbidities in this population. Methods. Using a database of children from a single medical center Down syndrome specialty clinic and the standard Centers for Disease Control and Prevention definitions, we calculated rates of obesity and overweight by age group and examined possible associations with common comorbidities including cardiac disease, thyroid disease, sleep apnea, autism, and visual and hearing impairment. We also examined mean body mass index (BMI) percentile and change in BMI percentile by age. Results. Data were obtained from 823 visits from 412 unique patients ranging in age from 2 years to 23 years of age. A total of 1.2% were underweight, 55.2% were normal weight, 23% were overweight, and 20.6% were obese. BMI percentile increased with female gender, age, and height percentile for age. Sleep apnea was associated with higher BMI percentile, while autism was associated with lower BMI percentile. Conclusions. Children with Down syndrome have higher rates of obesity than the general population, with especially high risk for girls. Much of the increase in obesity occurs between ages 2 and 6 years. Further research needs to target interventions for prevention in this vulnerable population, particularly in young girls.

Gynecology - Ginecología

TÍTULO / TITLE:   - Down syndrome and infertility: what support should we provide?

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REVISTA / JOURNAL:    - J Assist Reprod Genet. 2019 May 9. pii: 10.1007/s10815-019-01457-2. doi: 10.1007/s10815-019-01457-2.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10815-019-01457-2

AUTORES / AUTHORS: - Parizot E; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic disease at birth; on average, it affects 1 in 700 newborns. The syndrome features cognitive impairment, susceptibility to certain diseases, and (in some cases) congenital malformations. Improvements in medical care for people with DS have led to an increase in life expectancy. Furthermore, the systematic provision of specific support during childhood improves cognitive function and autonomy in adulthood. Consequently, patients and their families are now seeking the same rights as healthy people. Access to procreation is an emerging debate. The presumption of infertility in DS is based on a few old studies. Down syndrome appears to cause spermatogenesis defects in men and premature menopause in women. When assisted reproductive technology makes it possible to solve these problems, the question of fertility in DS must be addressed. Without entering into highly controversial ethical considerations related to parenthood for people with DS, we reviewed the literature on fertility in DS and tried to specify the associated genetic risk.

TÍTULO / TITLE:   - Trisomy 21 in both fetuses in a DCDA twin pregnancy.

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REVISTA / JOURNAL:    - British Medical J (BMJ). Free access to the article (immediately). http://bmj.com/search.dtl

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/bcr-2018-227608

AUTORES / AUTHORS: - Ong J; et a

INSTITUCIÓN / INSTITUTION: - Obstetrics and Gynaecology, KK Women’s and Children’s Hospital, Singapore. 

RESUMEN / SUMMARY: - A woman’s chances of having a child with Down syndrome increases with age. By age 40, the risk of conceiving a child with Down syndrome is about 1 in 100. We report a rare case of dizygotic dichorionic diamniotic twin pregnancy conceived via in vitro fertilisation, with both twins having trisomy 21. Both fetuses were independently detected to be at high risk of autosomal trisomy, initially via first-trimester screening and subsequently via invasive definitive diagnostic tests (ie, chorionic villus sampling and amniocentesis).Diagnosis of trisomy 21 has to be made via initial non-invasive prenatal screening, followed by further rigorous and accurate invasive pregnancy testing for confirmation. The gravity of the results necessitates high detection rates and high specificity of prenatal screening tests. Management of the patient must be multidisciplinary and supportive in nature, involving extensive and non-directive pregnancy counselling and management, genetic counselling and management of psychological distress.

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Successful Treatment of an EBV-positive Diffuse Large B-Cell Lymphoma in a Patient With Trisomy 21.

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REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2019 Apr 30. doi: 10.1097/MPH.0000000000001502.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000001502

AUTORES / AUTHORS: - Putti MC; et al.

INSTITUCIÓN / INSTITUTION: - Department of Women’s and Children’s Health, Pediatric Hematology-Oncology Unit, University of Padova. 

RESUMEN / SUMMARY: - Diffuse large B-cell Lymphoma (DLBCL) secondary to a chronic severe Epstein-Barr virus (EBV) infection has not been previously described in a patient with trisomy 21. Here we report the case of a 14-year-old girl with trisomy 21 with impaired control of EBV and DLBCL. She was cured with dose-adapted chemotherapy and hematopoietic stem cell transplantation without severe treatment-related toxicity. We describe the first case of EBV-positive DLBCL in a patient with trisomy 21 and we propose a treatment modality for this rare entity.

TÍTULO / TITLE:   - Changes in the peripheral blood cell count in pediatric patients with Down syndrome.

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REVISTA / JOURNAL:    - J Int Med Res. 2019 May 27:300060519850397. doi: 10.1177/0300060519850397.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0300060519850397

AUTORES / AUTHORS: - Mang N; et al

INSTITUCIÓN / INSTITUTION: - 1 Department of Pediatrics, “Victor Babes” University of Medicine and Pharmacy, Timisoara, Romania. 

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with multiple complications, including a high risk of leukemia and thyroid dysfunction. This clinical study aimed to examine the complete blood cell count in patients with DS without leukemia or transient abnormal myelopoiesis. We also aimed to evaluate the effect of thyroid dysfunction on hematological anomalies in DS. METHODS: We analyzed the peripheral blood cell count in 23 pediatric patients with DS with and without thyroid dysfunction and in 17 pediatric patients without DS with thyroid dysfunction. RESULTS: Patients with DS showed greater neutrophilia and lymphopenia than did patients with DS and hypothyroidism and patients with hypothyroidism. Surprisingly, patients with DS showed a significant degree of eosinopenia in the peripheral blood. Interestingly, hypothyroidism had an attenuating effect on different lineages in the complete blood count. However, these anomalies were specific for DS. CONCLUSIONS: Our clinical findings support previous data on DS-associated changes in the complete blood count. Our study also shows novel alterations in the complete blood count in leukemia-free patients with DS in association with hypothyroidism. The attenuating effect of thyroid dysfunction on changes in different lineages in the context of DS is novel and deserves further analysis in larger studies.

TÍTULO / TITLE:   - Placental Pathology in Down Syndrome-Associated Transient Abnormal Myelopoiesis.

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REVISTA / JOURNAL:    - Arch Pathol Lab Med. 2019 Apr 10. doi: 10.5858/arpa.2018-0248-RS.

Enlace a la Editora de la Revista http://dx.doi.org/10.5858/arpa.2018-0248-RS

AUTORES / AUTHORS: - Kuo E; Kumarapeli AR

INSTITUCIÓN / INSTITUTION: - From the Department of Pathology, University of Arkansas for Medical Sciences, Little Rock. 

RESUMEN / SUMMARY: - Transient abnormal myelopoiesis is a hematopoietic disorder that occurs in up to 10% of neonates with Down syndrome. It is characterized by leukocytosis and the presence of circulating blast cells harboring truncating GATA1 mutations with variable multiorgan system involvement. Placental involvement of transient abnormal myelopoiesis is infrequently described. Placental examination and identifying features related to transient abnormal myelopoiesis could be one of the early, if not the only, means of diagnosis of this condition in affected stillbirths, premature infants, and a subset of asymptomatic neonates. This article provides an overview of the placental pathology in transient abnormal myelopoiesis with review of the literature, and also discusses the important differential diagnoses.

TÍTULO / TITLE:   - Transient leukemia of Down Syndrome.

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REVISTA / JOURNAL:    - Crit Rev Clin Lab Sci. 2019 May 1:1-37. doi: 10.1080/10408363.2019.1613629.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/10408363.2019.1613629

AUTORES / AUTHORS: - Sas V; et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Childhood leukemia is mostly a “developmental accident” during fetal hematopoiesis and may require multiple prenatal and postnatal “hits”. The World Health Organization defines transient leukemia of Down syndrome as increased peripheral blood blasts cells in neonates with Down syndrome and classifies this type of leukemia as a separate entity. Although it was shown that Down syndrome predisposes children to myeloid leukemia, neither the nature of the predisposition nor the associated genetic lesions have been defined. Acute myeloid leukemia of Down syndrome is a unique disease characterized by a long pre-leukemic, myelodysplastic phase, unusual chromosomal findings and a high cure rate. In the present manuscript, we present a comprehensive review of the literature about clinical and biological findings of transient leukemia of Down syndrome and link them with the genetic discoveries in the field. We address the manuscript to the pediatric generalist and especially to the next generation of pediatric hematologists.

TÍTULO / TITLE:   - Unusual lymphoid malignancy and treatment response in two children with Down syndrome.

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REVISTA / JOURNAL:    - Pediatr Blood Cancer. 2019 May 28:e27822. doi: 10.1002/pbc.27822.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pbc.27822

AUTORES / AUTHORS: - Geerlinks A; et al.

INSTITUCIÓN / INSTITUTION: - Division of Hematology/Oncology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada. 

RESUMEN / SUMMARY: - Lymphoid malignancies other than acute lymphoblastic leukemia (ALL) are rare in children with Down syndrome (DS). Information about the toxicity of chemotherapy and prognosis is largely derived from the experience of children with DS and ALL or children without DS. PROCEDURE: We describe the treatment and outcome of two unusual lymphoid malignancies in children with DS. One patient was diagnosed with Burkitt lymphoma (BL) and the second, after treatment for B precursor ALL, with T-cell EBV-positive proliferative disorder (LPD). RESULTS: BL was treated with standard doses of LMB group B therapy subsequently intensified to group C therapy, including high-dose methotrexate (HD-MTX, 3-8 g/m(2) ). The patient did not experience excessive toxicity and remains in complete remission 13 months later. Despite presentation with disseminated disease the patient with T-cell EBV-positive LPD after treatment for B precursor ALL responded to dexamethasone and rituximab and remains in complete remission two years later. CONCLUSIONS: Upfront reduction of the high treatment intensity, which is associated with excellent survival outcomes in BL, may not be warranted in all children with DS. Response to therapy and prognosis of T-cell EBV-positive LPD in a patient with DS was not predicted by reported experience in the absence of DS.

TÍTULO / TITLE:   - Isolated myeloid sarcoma of the temporal bone: As the first clinical manifestation of acute myeloid leukemia in a patient of down’s syndrome.

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REVISTA / JOURNAL:    - Int J Surg Case Rep. 2019;58:77-80. doi: 10.1016/j.ijscr.2019.03.027. Epub 2019 Mar 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ijscr.2019.03.027

AUTORES / AUTHORS: - Marwah N; et al

INSTITUCIÓN / INSTITUTION: - Dept. of Pathology, PGIMS Rohtak, Haryana, India.  

RESUMEN / SUMMARY: - Leukemia is the most common malignancy of childhood but myeloid sarcoma is a rare presentation of underlying leukemic disorder. Myeloid sarcoma (MS) is a rare tumor composed of proliferation of myeloid precursors at extramedullary sites. PRESENTATION OF CASE: We report an unusual case of myeloid sarcoma involving the temporal bone in a young male child who presented with a large mass involving the left temporal region. This lesion was the initial presentation which led to further diagnosis of acute myeloid leukemia in our case. This case report brings awareness to the diverse extramedullary manifestations of isolated myeloid sarcoma, as well as the importance and difficulties that are associated with establishing a rapid diagnosis and initiating treatment. DISCUSSION: They can arise de novo or in association with hematological malignancies, most commonly acute myeloid leukemia (AML-M2). Clinically, it can masquerade as an abscess, cutaneous ulcer, or as a mass lesion. Morphologically, MS can mimic a variety of small round cell tumors including lymphomas, neuroblatoma and rhabdomyosarcoma. The occurrence of this tumor usually heralds AML or the onset of the blastic phase of chronic myeloid leukemia. Early recognition of this rare entity is important, because early aggressive chemotherapy and focal irradiation can cause regression of the tumor and thus improve patient longevity. CONCLUSION: The possibility of MS should be considered when dealing with unusual lymphoma like neoplasms that cannot be categorized as any of the Non-Hodgkin lymphoma subtypes and small blue round cell tumors.

TÍTULO / TITLE:   - The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children.

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REVISTA / JOURNAL:    - Crit Rev Oncol Hematol. 2019 Jun;138:132-138. doi: 10.1016/j.critrevonc.2019.04.011. Epub 2019 Apr 1

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.critrevonc.2019.04.011

AUTORES / AUTHORS: - Masetti R; et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, “Lalla Seragnoli”, Hematology-Oncology Unit, University of Bologna, Bologna, Italy.  

RESUMEN / SUMMARY: - Pediatric non-Down-syndrome acute megakaryoblastic leukemia (non-DS-AMKL) is a heterogeneous subtype of leukemia that has historically been associated with poor prognosis. Until the advent of large-scale genomic sequencing, the management of patients with non-DS-AMKL was very difficult due to the absence of reliable biological prognostic markers. The sequencing of large cohort of pediatric non-DS-AMKL samples led to the discovery of novel genetic aberrations, including high-frequency fusions, such as CBFA2T3-GLIS2 and NUP98-KDM5 A, as well as less frequent aberrations, such as HOX rearrangements. These new insights into the genetic landscape of pediatric non-DS-AMKL has allowed refining the risk-group stratification, leading to important changes in the prognostic scenario of these patients. This review summarizes the most important molecular pathogenic mechanisms of pediatric non-DS-AMKL. A critical discussion on how novel genetic abnormalities have refined the risk profile assessment and changed the management of these patients in clinical practice is also provided.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated.

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REVISTA / JOURNAL:    - Diabetes. 2019 Apr 8. pii: db19-0045. doi: 10.2337/db19-0045.

Enlace a la Editora de la Revista http://dx.doi.org/10.2337/db19-0045

AUTORES / AUTHORS: - Johnson MB et al

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into beta-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have childhood diabetes with an intermediate HLA association. It is not known if DS can cause PNDM. We found trisomy 21 was 7 times more likely in our PNDM cohort than in the population (13/1522 = 85/10,000 observed vs. 12.6/10,000 expected) and none of the 13 DS-PNDM cases had a mutation in the known PNDM genes which explained 82.9% of non-DS PNDM. Islet autoantibodies were present in 4/9 DS-PNDM patients but DS-PNDM was not associated with polygenic susceptibility to type 1 diabetes. We conclude that trisomy 21 is a cause of autoimmune PNDM that is not HLA associated. We propose that autoimmune diabetes in DS is heterogeneous and includes coincidental type 1 diabetes that is HLA associated and diabetes caused by trisomy 21 that is not HLA associated.

TÍTULO / TITLE:   - Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.

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REVISTA / JOURNAL:    - Front Immunol. 2019 Mar 15;10:447. doi: 10.3389/fimmu.2019.00447. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fimmu.2019.00447

AUTORES / AUTHORS: - Marcovecchio GE; et al.

INSTITUCIÓN / INSTITUTION: - Division of Regenerative Medicine, Stem Cells and Gene Therapy, Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.;  

RESUMEN / SUMMARY: - The thymus plays a fundamental role in establishing and maintaining central and peripheral tolerance and defects in thymic architecture or AIRE expression result in the development of autoreactive lymphocytes. Patients with partial DiGeorge Syndrome (pDGS) and Down Syndrome (DS) present alterations in size and architecture of the thymus and higher risk to develop autoimmunity. We sought to evaluate thymic architecture and thymocyte development in DGS and DS patients and to determine the extent to which thymic defects result in immune dysregulation and T cell homeostasis perturbation in these patients. Thymi from pediatric patients and age-matched controls were obtained to evaluate cortex and medullary compartments, AIRE expression and thymocyte development. In the same patients we also characterized immunophenotype of peripheral T cells. Phenotypic and functional characterization of thymic and peripheral regulatory T (Treg) cells was finally assessed. Histologic analysis revealed peculiar alterations in thymic medulla size and maturation in DGS and DS patients. Perturbed distribution of thymocytes and altered thymic output was also observed. DGS patients showed lower mature CD4(+) and CD8(+) T cell frequency, associated with reduced proportion and function of Tregs both in thymus and peripheral blood. DS patients showed increased frequency of single positive (SP) thymocytes and thymic Treg cells. However, Tregs isolated both from thymus and peripheral blood of DS patients showed reduced suppressive ability. Our results provide novel insights on thymic defects associated with DGS and DS and their impact on peripheral immune dysregulation. Indeed, thymic abnormalities and defect in thymocyte development, in particular in Treg cell number and function could contribute in the pathogenesis of the immunodysregulation present in pDGS and in DS patients.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - Analysis of a nanoparticle-enriched fraction of plasma reveals miRNA candidates for Down syndrome pathogenesis.

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REVISTA / JOURNAL:    - Int J Mol Med. 2019 Jun;43(6):2303-2318. doi: 10.3892/ijmm.2019.4158. Epub 2019 Apr 9.

Enlace a la Editora de la Revista http://dx.doi.org/10.3892/ijmm.2019.4158

AUTORES / AUTHORS: - Salvi A; et al.

INSTITUCIÓN / INSTITUTION: - Department of Molecular and Translational Medicine, University of Brescia, I25123 Brescia, Italy. 

RESUMEN / SUMMARY: - Down syndrome (DS) is caused by the presence of part or all of a third copy of chromosome 21. DS is associated with several phenotypes, including intellectual disability, congenital heart disease, childhood leukemia and immune defects. Specific microRNAs (miRNAs/miR) have been described to be associated with DS, although none of them so far have been unequivocally linked to the pathology. The present study focuses to the best of our knowledge for the first time on the miRNAs contained in nanosized RNA carriers circulating in the blood. Fractions enriched in nanosized RNAcarriers were separated from the plasma of young participants with DS and their nontrisomic siblings and miRNAs were extracted. A microarraybased analysis on a small cohort of samples led to the identification of the three most abundant miRNAs, namely miR165p, miR99b5p and miR1443p. These miRNAs were then profiled for 15 pairs of DS and nontrisomic sibling couples by reverse transcriptionquantitative polymerase chain reaction (RTqPCR). Results identified a clear differential expression trend of these miRNAs in DS with respect to their nontrisomic siblings and gene ontology analysis pointed to their potential role in a number of typical DS features, including ‘nervous system development’, ‘neuronal cell body’ and certain forms of ‘leukemia’. Finally, these expression levels were associated with certain typical quantitative and qualitative clinical features of DS. These results contribute to the efforts in defining the DSassociated pathogenic mechanisms and emphasize the importance of properly stratifying the miRNA fluid vehicles in order to probe biomolecules that are otherwise hidden and/or not accessible to (standard) analysis.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - Enhanced dendritic inhibition and impaired NMDAR activation in a mouse model of Down syndrome.

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REVISTA / JOURNAL:    - J Neurosci. 2019 Apr 18. pii: JNEUROSCI.2723-18.2019. doi: 10.1523/JNEUROSCI.2723-18.2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1523/JNEUROSCI.2723-18.2019

AUTORES / AUTHORS: - Schulz JM; ... Bischofberger J

INSTITUCIÓN / INSTITUTION: - Department of Biomedicine, University of Basel, Pestalozzistr. 20, CH-4056 Basel, Switzerland 

RESUMEN / SUMMARY: - Down syndrome (DS) or Trisomy 21 is a developmental disorder leading to cognitive deficits including disruption of hippocampus-dependent learning and memory. Enhanced inhibition has been suggested to underlie these deficits in DS based on studies using the Ts65Dn mouse model. Here we show that in this mouse model, GABAergic synaptic inhibition onto dendrites of hippocampal pyramidal cells is increased. By contrast, somatic inhibition was not altered. In addition, synaptic NMDA receptor (NMDAR) currents were reduced. Furthermore, dendritic inhibition was mediated via nonlinear alpha5-subunit containing GABAARs that closely matched the kinetics and voltage dependence of NMDARs. Thus, enhanced dendritic inhibition and reduced NMDA currents strongly decreased burst-induced NMDAR-mediated depolarization and impaired LTP induction. Finally, selective reduction of alpha5-GABAAR-mediated inhibition rescued both, burst-induced synaptic NMDA receptor activation and synaptic plasticity. These results demonstrate that reduced synaptic NMDAR activation and synaptic plasticity in the Ts65Dn mouse model of DS, can be corrected by specifically targeting nonlinear dendritic inhibition.SIGNIFICANCE STATEMENTMild to moderate intellectual disability is a prominent feature of Down Syndrome. Previous studies in mouse models suggest that increased synaptic inhibition is a main factor for decreased synaptic plasticity, the cellular phenomenon underlying memory. The present study shows that increased inhibition specifically onto dendrites together with reduced NMDA receptor content in excitatory synapses may be the cause. Reducing a slow nonlinear component that is specific to dendritic inhibitory inputs and mediated by alpha5 subunit-containing GABAA receptors rescues both NMDA receptor activation and synaptic plasticity.

TÍTULO / TITLE:   - Neonatal treatment with cyclosporine A restores neurogenesis and spinogenesis in the Ts65Dn model of Down syndrome.

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REVISTA / JOURNAL:    - Neurobiol Dis. 2019 May 11;129:44-55. doi: 10.1016/j.nbd.2019.05.005.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.nbd.2019.05.005

AUTORES / AUTHORS: - Stagni F; ... Bartesaghi R; Guidi S

INSTITUCIÓN / INSTITUTION: - Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy 

RESUMEN / SUMMARY: - Down syndrome (DS), a genetic condition due to triplication of chromosome 21, is characterized by reduced proliferation of neural progenitor cells (NPCs) starting from early life stages. This defect is worsened by a reduction of neuronogenesis (accompanied by an increase in astrogliogenesis) and dendritic spine atrophy. Since this triad of defects underlies intellectual disability, it seems important to establish whether it is possible to pharmacologically correct these alterations. In this study, we exploited the Ts65Dn mouse model of DS in order to obtain an answer to this question. In the framework of an in vitro drug-screening campaign of FDA/EMA-approved drugs, we found that the immunosuppressant cyclosporine A (CSA) restored proliferation, acquisition of a neuronal phenotype, and maturation of neural progenitor cells (NPCs) from the subventricular zone (SVZ) of the lateral ventricle of Ts65Dn mice. Based on these findings, we treated Ts65Dn mice with CSA in the postnatal period P3-P15. We found that treatment fully restored NPC proliferation in the SVZ and in the subgranular zone of the hippocampal dentate gyrus, and total number of hippocampal granule cells. Moreover, CSA enhanced development of dendritic spines on the dendritic arbor of the granule cells whose density even surpassed that of euploid mice. In hippocampal homogenates from Ts65Dn mice, we found that CSA normalized the excessive levels of p21, a key determinant of proliferation impairment. Results show that neonatal treatment with CSA restores the whole triad of defects of the trisomic brain. In DS CSA treatment may pose caveats because it is an immunosuppressant that may cause adverse effects. However, CSA analogues that mimic its effect without eliciting immunosuppression may represent practicable tools for ameliorating brain development in individuals with DS.

TÍTULO / TITLE:   - Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.

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REVISTA / JOURNAL:    - Mol Neurobiol. 2019 Apr 13. pii: 10.1007/s12035-019-1585-3. doi: 10.1007/s12035-019-1585-3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s12035-019-1585-3

AUTORES / AUTHORS: - Sobol M; et al.

INSTITUCIÓN / INSTITUTION: - Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Box 815, SE-751 08, Uppsala, Sweden. 

RESUMEN / SUMMARY: - Down syndrome (DS) or trisomy 21 (T21) is a leading genetic cause of intellectual disability. To gain insights into dynamics of molecular perturbations during neurogenesis in DS, we established a model using induced pluripotent stem cells (iPSC) with transcriptome profiles comparable to that of normal fetal brain development. When applied on iPSCs with T21, transcriptome and proteome signatures at two stages of differentiation revealed strong temporal dynamics of dysregulated genes, proteins and pathways belonging to 11 major functional clusters. DNA replication, synaptic maturation and neuroactive clusters were disturbed at the early differentiation time point accompanied by a skewed transition from the neural progenitor cell stage and reduced cellular growth. With differentiation, growth factor and extracellular matrix, oxidative phosphorylation and glycolysis emerged as major perturbed clusters. Furthermore, we identified a marked dysregulation of a set of genes encoded by chromosome 21 including an early upregulation of the hub gene APP, supporting its role for disturbed neurogenesis, and the transcription factors OLIG1, OLIG2 and RUNX1, consistent with deficient myelination and neuronal differentiation. Taken together, our findings highlight novel sequential and differentiation-dependent dynamics of disturbed functions, pathways and elements in T21 neurogenesis, providing further insights into developmental abnormalities of the DS brain.

TÍTULO / TITLE:   - Maternal choline supplementation alters basal forebrain cholinergic neuron gene expression in the Ts65Dn mouse model of Down syndrome.

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REVISTA / JOURNAL:    - Dev Neurobiol. 2019 May 23. doi: 10.1002/dneu.22700.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/dneu.22700

AUTORES / AUTHORS: - Kelley CM; et al

INSTITUCIÓN / INSTITUTION: - Department of Neurobiology, Barrow Neurological Institute, Phoenix, AZ, USA. 

RESUMEN / SUMMARY: - Down syndrome (DS), trisomy 21, is marked by intellectual disability and a premature aging profile including degeneration of the basal forebrain cholinergic neuron (BFCN) projection system, similar to what is seen in Alzheimer’s disease (AD). Although data indicate that perinatal maternal choline supplementation (MCS) alters the structure and function of these neurons in the Ts65Dn mouse model of DS and AD (Ts), how MCS affects the molecular profile of vulnerable BFCNs is unknown. We investigated the genetic signature of BFCNs obtained from Ts and disomic (2N) offspring of Ts65Dn dams maintained on a MCS diet (Ts+, 2N+) or a choline-normal diet (ND) from mating until weaning, then maintained on ND until 4.4-7.5 months of age. Brains were then collected and prepared for choline acetyltransferase (ChAT) immunohistochemistry and laser capture microdissection followed by RNA extraction and custom-designed microarray analysis. Findings revealed upregulation of select transcripts in classes of genes related to the cytoskeleton (Tubb4b), AD (Cav1), cell death (Bcl2), presynaptic (Syngr1), immediate early (Fosb, Arc), G protein signaling (Gabarap, Rgs10), and cholinergic neurotransmission (Chrnb3) in Ts compared to 2N mice, which were normalized with MCS. Moreover, significant downregulation was seen in select transcripts associated with the cytoskeleton (Dync1h1), intracellular signaling (Itpka, Gng3, Mlst8), and cell death (Ccng1) in Ts compared to 2N mice that were normalized with MCS. This study provides valuable insight into mechanisms of genotype-dependent differences and the effects of MCS at the molecular level within a key vulnerable cell type in DS and AD. This article is protected by copyright. All rights reserved.

TÍTULO / TITLE:   - Whole genome bisulfite sequencing of Down syndrome brain reveals regional DNA hypermethylation and novel disorder insights.

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REVISTA / JOURNAL:    - Epigenetics. 2019 Apr 22:1-13. doi: 10.1080/15592294.2019.1609867.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/15592294.2019.1609867

AUTORES / AUTHORS: - Laufer BI et al

INSTITUCIÓN / INSTITUTION: - a Department of Medical Microbiology and Immunology, School of Medicine , Genome Center, MIND Institute, University of California , Davis , CA , USA. 

RESUMEN / SUMMARY: - Down Syndrome (DS) is the most common genetic cause of intellectual disability, in which an extra copy of human chromosome 21 (HSA21) affects regional DNA methylation profiles across the genome. Although DNA methylation has been previously examined at select regulatory regions across the genome in a variety of DS tissues and cells, differentially methylated regions (DMRs) have yet to be examined in an unbiased sequencing-based approach. Here, we present the first analysis of DMRs from whole genome bisulfite sequencing (WGBS) data of human DS and matched control brain, specifically frontal cortex. While no global differences in DNA methylation were observed, we identified 3,152 DS-DMRs across the entire genome, the majority of which were hypermethylated in DS. DS-DMRs were significantly enriched at CpG islands and de-enriched at specific gene body and regulatory regions. Functionally, the hypermethylated DS-DMRs were enriched for one-carbon metabolism, membrane transport, and glutamatergic synaptic signalling, while the hypomethylated DMRs were enriched for proline isomerization, glial immune response, and apoptosis. Furthermore, in a cross-tissue comparison to previous studies of DNA methylation from diverse DS tissues and reference epigenomes, hypermethylated DS-DMRs showed a strong cross-tissue concordance, while a more tissue-specific pattern was observed for the hypomethylated DS-DMRs. Overall, this approach highlights that low-coverage WGBS of clinical samples can identify epigenetic alterations to known biological pathways, which are potentially relevant to therapeutic treatments and include metabolic pathways. These results also provide new insights into the genome-wide effects of genetic alterations on DNA methylation profiles indicative of altered neurodevelopment and brain function.

TÍTULO / TITLE:   - Hydroxyurea Improves Spatial Memory and Cognitive Plasticity in Mice and Has a Mild Effect on These Parameters in a Down Syndrome Mouse Model.

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REVISTA / JOURNAL:    - Front Aging Neurosci. 2019 May 14;11:96. doi: 10.3389/fnagi.2019.00096. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fnagi.2019.00096

AUTORES / AUTHORS: - Brose RD; ... Reeves RH

INSTITUCIÓN / INSTITUTION: - Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, United States. 

RESUMEN / SUMMARY: - Down syndrome (DS), a genetic disorder caused by partial or complete triplication of chromosome 21, is the most common genetic cause of intellectual disability. DS mouse models and cell lines display defects in cellular adaptive stress responses including autophagy, unfolded protein response, and mitochondrial bioenergetics. We tested the ability of hydroxyurea (HU), an FDA-approved pharmacological agent that activates adaptive cellular stress response pathways, to improve the cognitive function of Ts65Dn mice. The chronic HU treatment started at a stage when early mild cognitive deficits are present in this model ( approximately 3 months of age) and continued until a stage of advanced cognitive deficits in untreated mice ( approximately 5-6 months of age). The HU effects on cognitive performance were analyzed using a battery of water maze tasks designed to detect changes in different types of memory with sensitivity wide enough to detect deficits as well as improvements in spatial memory. The most common characteristic of cognitive deficits observed in trisomic mice at 5-6 months of age was their inability to rapidly acquire new information for long-term storage, a feature akin to episodic-like memory. On the background of severe cognitive impairments in untreated trisomic mice, HU-treatment produced mild but significant benefits in Ts65Dn by improving memory acquisition and short-term retention of spatial information. In control mice, HU treatment facilitated memory retention in constant (reference memory) as well as time-variant conditions (episodic-like memory) implicating a robust nootropic effect. This was the first proof-of-concept study of HU treatment in a DS model, and indicates that further studies are warranted to assess a window to optimize timing and dosage of the treatment in this pre-clinical phase. Findings of this study indicate that HU has potential for improving memory retention and cognitive flexibility that can be harnessed for the amelioration

TÍTULO / TITLE:   - Glucagon-Like Peptide-1 Cleavage Product Improves Cognitive Function in a Mouse Model of Down Syndrome.

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REVISTA / JOURNAL:    - eNeuro. 2019 May 15;6(2). pii: ENEURO.0031-19.2019. doi: 10.1523/ENEURO.0031-19.2019. Print 2019 Mar

Enlace a la Editora de la Revista http://dx.doi.org/10.1523/ENEURO.0031-19.2019

AUTORES / AUTHORS: - Day SM et al

INSTITUCIÓN / INSTITUTION: - Departments of Internal Medicine and Gerontology and Geriatric Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157. 

RESUMEN / SUMMARY: - Currently there is no effective therapy available for cognitive impairments in Down syndrome (DS), one of the most prevalent forms of intellectual disability in humans associated with the chromosomes 21 trisomy. Glucagon-like peptide-1 (GLP-1) is an incretin hormone that maintains glucose homeostasis by stimulating insulin secretion. Its natural cleavage product GLP-1 (9-36) lacks insulinotropic effects and has a low binding affinity for GLP-1 receptors; thus, GLP-1 (9-36) has historically been identified as an inactive metabolite. Conversely, recent work has demonstrated interesting physiological properties of GLP-1 (9-36) such as cardioprotection and neuroprotection. We have previously shown that GLP-1 (9-36) administration enhances neuronal plasticity in young WT mice and ameliorates cognitive deficits in a mouse model of Alzheimer’s disease. Here, we report that systemic administration of GLP-1 (9-36) in Ts65Dn DS model mice of either sex resulted in decreased mitochondrial oxidative stress in hippocampus and improved dendritic spine morphology, increase of mature spines and reduction of immature spines. Importantly, these molecular alterations translated into functional changes in that long-term potentiation failure and cognitive impairments in TsDn65 DS model mice were rescued with GLP-1 (9-36) treatment. We also show that chronic GLP-1 (9-36) treatment did not alter glucose tolerance in either WT or DS model mice. Our findings suggest that GLP-1 (9-36) treatment may have therapeutic potential for DS and other neurodegenerative diseases associated with increased neuronal oxidative stress.

TÍTULO / TITLE:   - Downregulated Wnt/beta-catenin signalling in the Down syndrome hippocampus.

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REVISTA / JOURNAL:    - Sci Rep. 2019 May 13;9(1):7322. doi: 10.1038/s41598-019-43820-4.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41598-019-43820-4

AUTORES / AUTHORS: - Granno S ... Harvey K;

INSTITUCIÓN / INSTITUTION: - Department of Pharmacology, UCL School of Pharmacy, University College London, 29-39 Brunswick Square, London, WC1N 1AX, UK 

RESUMEN / SUMMARY: - Pathological mechanisms underlying Down syndrome (DS)/Trisomy 21, including dysregulation of essential signalling processes remain poorly understood. Combining bioinformatics with RNA and protein analysis, we identified downregulation of the Wnt/beta-catenin pathway in the hippocampus of adult DS individuals with Alzheimer’s disease and the ‘Tc1’ DS mouse model. Providing a potential underlying molecular pathway, we demonstrate that the chromosome 21 kinase DYRK1A regulates Wnt signalling via a novel bimodal mechanism. Under basal conditions, DYRK1A is a negative regulator of Wnt/beta-catenin. Following pathway activation, however, DYRK1A exerts the opposite effect, increasing signalling activity. In summary, we identified downregulation of hippocampal Wnt/beta-catenin signalling in DS, possibly mediated by a dose dependent effect of the chromosome 21-encoded kinase DYRK1A. Overall, we propose that dosage imbalance of the Hsa21 gene DYRK1A affects downstream Wnt target genes. Therefore, modulation of Wnt signalling may open unexplored avenues for DS and Alzheimer’s disease treatment.

TÍTULO / TITLE:   - OLIG2 Drives Abnormal Neurodevelopmental Phenotypes in Human iPSC-Based Organoid and Chimeric Mouse Models of Down Syndrome.

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REVISTA / JOURNAL:    - Cell Stem Cell. 2019 May 14. pii: S1934-5909(19)30163-8. doi: 10.1016/j.stem.2019.04.014.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.stem.2019.04.014

AUTORES / AUTHORS: - Xu R; .... Jiang P

INSTITUCIÓN / INSTITUTION: - Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA; Department of Developmental Neuroscience, Munroe-Meyer Institute and Mary & Dick Holland Regenerative Medicine Program, University of Nebraska Medic 

RESUMEN / SUMMARY: - Down syndrome (DS) is a common neurodevelopmental disorder, and cognitive defects in DS patients may arise from imbalances in excitatory and inhibitory neurotransmission. Understanding the mechanisms underlying such imbalances may provide opportunities for therapeutic intervention. Here, we show that human induced pluripotent stem cells (hiPSCs) derived from DS patients overproduce OLIG2(+) ventral forebrain neural progenitors. As a result, DS hiPSC-derived cerebral organoids excessively produce specific subclasses of GABAergic interneurons and cause impaired recognition memory in neuronal chimeric mice. Increased OLIG2 expression in DS cells directly upregulates interneuron lineage-determining transcription factors. shRNA-mediated knockdown of OLIG2 largely reverses abnormal gene expression in early-stage DS neural progenitors, reduces interneuron production in DS organoids and chimeric mouse brains, and improves behavioral deficits in DS chimeric mice. Thus, altered OLIG2 expression may underlie neurodevelopmental abnormalities and cognitive defects in DS patients.

Neurology - Neurología

TÍTULO / TITLE:   - Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21.

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REVISTA / JOURNAL:    - J Child Neurol. 2019 May 22:883073819850650. doi: 10.1177/0883073819850650.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0883073819850650

AUTORES / AUTHORS: - Armstrong D; Said RR;

INSTITUCIÓN / INSTITUTION: - 1 Department of Pediatrics, Division of Child Neurology, Children�s Health, University of Texas Southwestern Medical Center, Dallas, TX, USA. 

RESUMEN / SUMMARY: - We performed a retrospective chart review of patients with trisomy 21 and infantile spasms in our university-based pediatric epilepsy center between 2002 and 2016 in order to describe the clinical characteristics of children with these diagnoses as well as to evaluate their response to first-line treatments. METHODS: Patients with infantile spasms were identified via the neurophysiology database. Charts were reviewed with attention to infantile spasms diagnosis, presence of trisomy 21, age of reported clinical onset, treatment lag, treatments used, response to treatment, imaging findings, electroencephalography (EEG) data, and developmental outcomes. RESULTS: Of the 310 patients with infantile spasms, 24 also had trisomy 21. Three patients did not meet inclusion criteria. Ten of the 21 patients received nonstandard therapies first line; 2 of the 10 (20%) achieved spasm control, and 4 of the 8 who failed therapy (50%) progressed to Lennox-Gastaut syndrome. Eleven of the 21 patients received standard therapies as first-line treatments (10 with prednisolone according to the protocol in the United Kingdom Infantile Spasms Study [UKISS] and 1 with adrenocorticotrophic hormone [ACTH]). Nine of the 10 patients (90%) who received prednisolone achieved spasm resolution, 6 (60%) of these without relapse. The final patient (10%) failed prednisolone as well as ACTH. One patient received ACTH first line with success. CONCLUSION: This is the only series to follow children with trisomy 21 and infantile spasms in which a significant proportion received UKISS-protocol prednisolone. It adds to current knowledge about safety, tolerability, and effectiveness of prednisolone in this group.

TÍTULO / TITLE:   - Structural Magnetic Resonance Imaging-Based Brain Morphology Study in Infants and Toddlers With Down Syndrome: The Effect of Comorbidities.

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REVISTA / JOURNAL:    - Pediatr Neurol. 2019 Mar 22. pii: S0887-8994(18)31321-3. doi: 10.1016/j.pediatrneurol.2019.03.015.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.015

AUTORES / AUTHORS: - Shiohama T; et al

INSTITUCIÓN / INSTITUTION: - Division of Newborn Medicine, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts; Department of Pediatrics, Chiba University Hospital, Chiba-shi, Chiba, Japan.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most prevalent chromosomal disorder characterized by intellectual disability, multiple organ anomalies, generalized muscular hypotonia, and characteristic physical features. The presence of DS-associated medical comorbidities has contributed to brain morphologic changes. The aim of this study was to evaluate brain morphologic characteristics during infant and toddler ages in patients with DS using structural brain magnetic resonance imaging. METHODS: Structural brain T1-weighted magnetic resonance images from participants with DS with complete chromosome 21 trisomy (n = 20; 1.6 +/- 0.6 [mean +/- standard deviation] years old) were analyzed using FreeSurfer. The measurements were compared with those of 60 gender- and age-matched neurotypical controls by Cohen’s d statistic and unpaired t test with false discovery rate correction for multiple comparisons and analyzed using a univariate general linear model with the following DS-associated medical comorbidities: congenital cardiac disease, infantile spasms, and hypothyroidism. RESULTS: We identified 27 candidate measurements with large effect sizes (absolute d > 0.8) and statistically significant differences (P < 6.9 x 10(-3)). Among them were decreased volumes in bilateral cerebellar gray matter and right cerebellar white matter and brainstem and cortical abnormalities in the right superior temporal, right rostral anterior cingulate, and left rostral middle frontal gyrus, independent of comorbid effects. Only bilateral cerebellar gray matter volumes and brainstem volume showed differences between DS and healthy groups during infancy. CONCLUSION: These results suggest that cerebellar gray matter and brainstem may represent the primary regions affected by the presence of an additional copy of chromosome 21.

TÍTULO / TITLE:   - Down syndrome mouse models have an abnormal enteric nervous system.

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REVISTA / JOURNAL:    - JCI Insight. 2019 Apr 18;5. pii: 124510. doi: 10.1172/jci.insight.124510.

Enlace a la Editora de la Revista http://dx.doi.org/10.1172/jci.insight.124510

AUTORES / AUTHORS: - Schill EM et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Children with trisomy 21 (Down syndrome [DS]) have a 130-fold increased incidence of Hirschsprung Disease (HSCR), a developmental defect where the enteric nervous system (ENS) is missing from distal bowel (i.e., distal bowel is aganglionic). Treatment for HSCR is surgical resection of aganglionic bowel, but many children have bowel problems after surgery. Post-surgical problems like enterocolitis and soiling are especially common in children with DS. To determine how trisomy 21 affects ENS development, we evaluated the ENS in two DS mouse models, Ts65Dn and Tc1. These mice are trisomic for many chromosome 21 homologous genes, including Dscam and Dyrk1a, which are hypothesized to contribute to HSCR risk. Ts65Dn and Tc1 mice have normal ENS precursor migration at E12.5 and almost normal myenteric plexus structure as adults. However, Ts65Dn and Tc1 mice have markedly reduced submucosal plexus neuron density throughout the bowel. Surprisingly, the submucosal neuron defect in Ts65Dn mice is not due to excess Dscam or Dyrk1a, since normalizing copy number for these genes does not rescue the defect. These findings suggest the possibility that the high frequency of bowel problems in children with DS and HSCR may occur because of additional unrecognized problems with ENS structure.

TÍTULO / TITLE:   - New approaches to studying early brain development in Down syndrome.

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REVISTA / JOURNAL:    - Dev Med Child Neurol. 2019 May 17. doi: 10.1111/dmcn.14260.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/dmcn.14260

AUTORES / AUTHORS: - Baburamani AA et al

INSTITUCIÓN / INSTITUTION: - Centre for the Developing Brain, Department of Perinatal Imaging and Health, School of Biomedical Engineering & Imaging Sciences, King’s College London, King’s Health Partners, St Thomas’ Hospital, London, UK. 

RESUMEN / SUMMARY: - Down syndrome is the most common genetic developmental disorder in humans and is caused by partial or complete triplication of human chromosome 21 (trisomy 21). It is a complex condition which results in multiple lifelong health problems, including varying degrees of intellectual disability and delays in speech, memory, and learning. As both length and quality of life are improving for individuals with Down syndrome, attention is now being directed to understanding and potentially treating the associated cognitive difficulties and their underlying biological substrates. These have included imaging and postmortem studies which have identified decreased regional brain volumes and histological anomalies that accompany early onset dementia. In addition, advances in genome-wide analysis and Down syndrome mouse models are providing valuable insight into potential targets for intervention that could improve neurogenesis and long-term cognition. As little is known about early brain development in human Down syndrome, we review recent advances in magnetic resonance imaging that allow non-invasive visualization of brain macro- and microstructure, even in utero. It is hoped that together these advances may enable Down syndrome to become one of the first genetic disorders to be targeted by antenatal treatments designed to ‘normalize’ brain development. WHAT THIS PAPER ADDS: Magnetic resonance imaging can provide non-invasive characterization of early brain development in Down syndrome. Down syndrome mouse models enable study of underlying pathology and potential intervention strategies. Potential therapies could modify brain structure and improve early cognitive levels. Down syndrome may be the first genetic disorder to have targeted therapies which alter antenatal brain development.

TÍTULO / TITLE:   - Outer Brain Oscillations in Down Syndrome.

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REVISTA / JOURNAL:    - Front Syst Neurosci. 2019 May 7;13:17. doi: 10.3389/fnsys.2019.00017. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fnsys.2019.00017

AUTORES / AUTHORS: - Ruiz-Mejias M;

INSTITUCIÓN / INSTITUTION: - Systems Neuroscience, Institut d’Investigacions Biomediques August Pi i Sunyer, Barcelona, España. 

RESUMEN / SUMMARY: - The present article reviews the relationship between sleep and oscillatory activity in Down Syndrome (DS), as well as the featuring emergent rhythmic activity across different brain states. A comprehensive discussion of the data from electroencephalographic studies in DS humans and transgenic/trisomic mouse models is provided, as well as data from signals collected from local field potentials (LFP) and intracellular recordings in DS mouse models. The first sections focus specially on the alpha phenotype consistently observed in DS subjects, as well as its description in DS childhood and aging. Subsequently, a review of the data reported in DS mouse models is presented with the aim to deepen on the mechanisms underlying altered rhythmic patterns. Further sections situate the state-of-the-art of the field, with a discussion on the possible circuit alterations that may underlie impaired alpha and gamma oscillatory activity. A further aim is to highlight the importance of studying network oscillatory activity in mouse models to infer alterations in the underlying circuits related to cognition, such as in intellectual disability. In this direction, a view of alpha and gamma rhythms generated by the cerebral cortex as a tool for evaluating an unbalance between excitation and inhibition in DS is claimed, which points out toward an over-inhibited network. A final aim is to situate oscillatory activity as a key phenomenon that may be used as a biomarker for monitoring as well the effect of novel therapeutic strategies.

TÍTULO / TITLE:   - Neuroimaging assessment in Down syndrome: a pictorial review.

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REVISTA / JOURNAL:    - Insights Imaging. 2019 May 20;10(1):52. doi: 10.1186/s13244-019-0729-3.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s13244-019-0729-3

AUTORES / AUTHORS: - Rodrigues M; et al

INSTITUCIÓN / INSTITUTION: - Neuroradiology Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, R. Conceicao Fernandes, 1079, Vila Nova de Gaia, Portugal 

RESUMEN / SUMMARY: - Down syndrome (DS), or trisomy 21, is the leading genetic cause of intellectual incapacity worldwide, with a reported incidence of about 1 in 1,000 to 1 in 1,100 live births. Besides the several commonly known physical features characteristic of this syndrome present at birth, DS may additionally affect every organ system. In addition, despite the large number of published papers concerning this syndrome, there is scarce literature focusing specifically in the typical neuroimaging features associated with this condition. The aim of this paper is to review and systematize the distinctive characteristics and abnormalities of the central nervous system, head and neck, and spine present in DS patients that should actively be searched for and evaluated by radiologists and/or neuroradiologists.

Ophtalmology - Oftalmología

TÍTULO / TITLE:   - Spectral Domain Optical Coherence Tomography in Detecting Sub-Clinical Retinal Findings in Asian Indian Children with Down Syndrome.

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REVISTA / JOURNAL:    - Curr Eye Res. 2019 Apr 8:1-7. doi: 10.1080/02713683.2019.1597128.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/02713683.2019.1597128

AUTORES / AUTHORS: - Mangalesh S; et al.

INSTITUCIÓN / INSTITUTION: - a Department of Pediatric Retina , Narayana Nethralaya Eye Institute , Bangalore , India. 

RESUMEN / SUMMARY: - Trisomy 21, also known as Down syndrome (DS), is the most common trisomy worldwide. Although ocular associations have been reported, retinal anatomy and pathology remain uninvestigated. We evaluate the role of spectral domain optical coherence tomography (SD-OCT) in analyzing foveal morphology of children with DS. METHODS: Nineteen consecutive DS children and eight controls were enrolled under a cross-sectional study in an institutional practice. All subjects underwent SD-OCT imaging on a hand-held device. The morphology and thickness of central fovea, inner retinal layers, outer retina, and photoreceptor layers were measured and compared with age-group sub-analysis. RESULTS: Mean age of the cases was 24 months (3-78 months). All cases and controls had a normal fundus on ophthalmoscopy and foveal thickness was comparable (p = 0.718). Inner retinal fusion was complete in the foveal center in only three eyes (15.8%) of cases compared to all eyes (100%) of controls (p < 0.001). The outer plexiform layer was normal in 10 eyes of cases (52.6%) compared to all eyes (100%) of the controls. Only 10 eyes of DS (52.6%) had a normal external limiting membrane, compared to all eyes of controls (100%, p = 0.01). The interdigitation zone (outer segment) was normal in one (5.3%) case compared to eight (67%) controls (p = 0.001). On subgroup analysis, in older cohorts, cases had a greater proportion of abnormal layers compared to controls. Visual acuity was found to be lower in cases when compared to controls, although not significant (p = 0.19). CONCLUSION: DS babies have abnormal foveal morphology and persistence of inner retinal layers. This may assist our understanding of their visual development.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - Do Exercise Interventions Improve Balance for Children and Adolescents With Down Syndrome? A Systematic Review.

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REVISTA / JOURNAL:    - Phys Ther. 2019 May 1;99(5):507-518. doi: 10.1093/ptj/pzz012.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/ptj/pzz012

AUTORES / AUTHORS: - Maiano C; et al.

INSTITUCIÓN / INSTITUTION: - Cyberpsychology Laboratory, Department of Psychoeducation and Psychology, Universite du Quebec en Outaouais, 5 Rue Saint-Joseph, Saint Jerome, Quebec, Canada J7Z 0B7. 

RESUMEN / SUMMARY: - Youths with Down syndrome are characterized by deficits in balance/postural stability. One way to palliate balance deficits among this population is through exercise interventions. However, to the authors’ knowledge, the effects of exercise interventions designed to improve the balance of youths with Down syndrome have never been systematically reviewed. PURPOSE: The purpose of this review was to summarize the findings from studies examining the effects of exercise interventions designed to improve balance in youths with Down syndrome. DATA SOURCES: A systematic literature search was performed in 10 databases (Academic Search Complete, CINAHL Plus With Full-Text, Education Source, ERIC, Medline With Full-Text, PsycARTICLES, Psychology and Behavioral Sciences Collection, Scopus, SocINDEX, and SPORTDiscus With Full-Text) on June 12, 2017. STUDY SELECTION: Randomized controlled trials and controlled trials examining the effects of exercise interventions designed to improve balance in youths with Down syndrome were included. DATA EXTRACTION: Two authors selected the studies and extracted their characteristics and results. Three authors assessed the risk of bias in the studies using the Cochrane Collaboration tool. DATA SYNTHESIS: Eleven studies, published between 2010 and 2017, met the inclusion criteria. The findings showed that exercise interventions were more effective than control conditions for improving the static balance of children with Down syndrome and the static-dynamic balance (ie, global balance score obtained with a scale measuring both static and dynamic balance) of children and adolescents with Down syndrome. Nevertheless, the findings on dynamic balance in children and static balance in adolescents were inconclusive. LIMITATIONS: With a small number of studies and their high risk of bias, the present findings must be interpreted with caution. CONCLUSIONS: The reviewed exercise interventions were successful in improving the static balance of children wit

TÍTULO / TITLE:   - Outcomes following physical therapy incorporating hippotherapy on neuromotor function and bladder control in children with Down syndrome: A case series.

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REVISTA / JOURNAL:    - Phys Occup Ther Pediatr. 2019 May 20:1-14. doi: 10.1080/01942638.2019.1615601.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/01942638.2019.1615601

AUTORES / AUTHORS: - Moriello G; et al.

INSTITUCIÓN / INSTITUTION: - a Utica College , Utica , NY , USA. 

RESUMEN / SUMMARY: - AIMS: The objective of this case series was to document gross motor function, gait parameter, and bladder control outcomes following physical therapy incorporating hippotherapy in children with Down syndrome (DS). METHODS: Four children between three and five years of age received eight-weekly physical therapy sessions incorporating hippotherapy. Outcome measures included the Gross Motor Function Measure-88 (GMFM-88), parental perception of function during every day activities, spatiotemporal parameters of gait and bladder control. RESULTS: Total change scores on the GMFM-88 exceeded the standardized response mean in all four children, while scores on Dimension E improved in two children. From the mothers’ perspectives, all children showed at least some improvement in walking, running, and jumping; sitting, kneeling, and standing; symmetry and comfort; balance; coordination and social interactions and there were inconsistent changes in bladder control. Only one child demonstrated changes greater than 20% in any of the gait parameters. CONCLUSIONS: Physical therapy incorporating hippotherapy may be a potential treatment to assist in improving gross motor function in children with DS, but eight sessions may not be long enough to show major improvements in gait parameters or bladder control. Further research in the form of larger controlled trials is warranted to provide more support for the intervention in those with DS.

TÍTULO / TITLE:   - Evaluation of the Effectiveness of Nordic Walking Training in Improving the Gait of Persons with Down Syndrome.

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REVISTA / JOURNAL:    - Biomed Res Int. 2019 Apr 15;2019:6353292. doi: 10.1155/2019/6353292. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2019/6353292

AUTORES / AUTHORS: - Skiba A et al, Marchewka A

INSTITUCIÓN / INSTITUTION: - Department of Clinical Rehabilitation, University of Physical Education in Cracow, al. Jana Pawla II 78, 31-571 Cracow, Poland. 

RESUMEN / SUMMARY: - People with Down syndrome (DS) show dysfunction of gait, expressed by disturbed character of angular changes and values of the spatiotemporal parameters as compared to the physiological norm. It is known that exercises and various activities have positive effect on balance and gait, but there are only a few scientific proofs concerning above-mentioned in people with DS. Furthermore, the effect of Nordic Walking (NW) training on gait in people with DS is unexplored. We enrolled 22 subjects with DS, aged 25-40 years, with moderate intellectual disability. Participants were randomly divided into 2 groups: NW training group which underwent 10 weeks of training at a frequency of 3 times a week and control group with no specific intervention. Subjects were examined twice: 1 week before training and a week immediately after intervention. Gait was evaluated by the Vicon 250: a computerized system of three-dimensional analysis of motion, connected to 5 infrared video cameras. We conducted mixed-design ANOVA model to assess the effects of time and type of training on spatiotemporal parameters. We found significant favorable time by group interaction in the following parameters: step length in right leg: F(1,15) =14,47, p=0.002; left leg accordingly F(1,15) =5,15, p=0.038, cycle length in right leg: F(1,15) =14,48, p=0.002; left leg accordingly F(1,15) =15,09, p=0.001; and gait standardised speed F(1,15) =5,35, p=0.035. Statistically significant changes were observed in numerous kinematic parameters of ankle, knee, pelvis, and shoulder in NW group. Regular NW training has positive influence on selected spatiotemporal and kinematic parameters in people with Down Syndrome and may be an attractive and safe form of rehabilitation.

TÍTULO / TITLE:   - A biomechanical study of gait initiation in Down syndrome.

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REVISTA / JOURNAL:    - BMC Neurol. 2019 Apr 15;19(1):66. doi: 10.1186/s12883-019-1288-4.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12883-019-1288-4

AUTORES / AUTHORS: - Corsi C; et al

INSTITUCIÓN / INSTITUTION: - Department of Electronics, Information and Bioengineering, Politecnico di Milano, Piazza Leonardo da Vinci 32, 20133, Milan, Italy. 

RESUMEN / SUMMARY: - Gait Initiation (GI) is a functional task that challenges the balance control requiring weight shift and a transition from standing to walking. Individuals with Down Syndrome (DS) walk with low velocity, prolonged stance and shorter steps beside an increased support base. However, no studies performed GI analysis on this population. The aim of this study is to quantitatively characterize the GI task in subjects with DS compared with a typically developed control group. METHODS: Seventeen individuals with DS (17 to 40 years) and 19 healthy subjects (17 to 40 years) were enrolled in the study. Data were acquired using an optoelectronic motion capture system and force plates in order to measure the displacement and velocity of Center of Mass (CoM) and the trajectory of Center Of Pressure (CoP). All participants were asked to stand barefoot on the first force platform and received a verbal cue to begin walking for 6 gait initiation trials (three starting with each foot). The CoP duration, velocity, length and excursion were calculated during the anticipatory postural adjustments phases (APAs) and the locomotor (LOC) phase. For the analysis of the CoM, its displacements in antero-posterior (AP) and medio-lateral (ML) during the APAs and LOC phases. Statistical analysis was conducted to compare the two groups. RESULTS: Regarding CoP measures, when compared to control group, individuals with DS presented higher durations, lower velocities, longer lengths during the second APA and total phases, and shorter lengths during the first APA and LOC phases. The group with DS also presented longer CoP excursion during the second APA, whereas a shorter excursion was present during the first APA and LOC phases. The AP excursion in CoM is reduced in the participants with DS. CONCLUSIONS: Our results could be useful in the rehabilitation of individuals with DS as they suggest to reinforce exercise programs to improve balance in AP and ML directions, which is demonstrated to be impaired

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Rethinking second-trimester Down syndrome screening in the cfDNA era.

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REVISTA / JOURNAL:    - Ultrasound Obstet Gynecol. 2019 May 29. doi: 10.1002/uog.20360.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/uog.20360

AUTORES / AUTHORS: - Cuckle H

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - In recent decades the focus of Down’s syndrome screening using maternal serum and ultrasound markers has shifted from the second to the first trimester. This has been driven by better screening performance at 11-13 weeks gestation compared with 15-19 weeks. Moreover, first trimester screening has the clinical advantages of earlier prenatal diagnosis, and if required, a safer and less traumatic termination of pregnancy

TÍTULO / TITLE:   - Cost-Effectiveness Analysis of Non-invasive Prenatal Testing for Down Syndrome in China.

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REVISTA / JOURNAL:    - Int J Technol Assess Health Care. 2019 May 27:1-6. doi: 10.1017/S0266462319000308.

Enlace a la Editora de la Revista http://dx.doi.org/10.1017/S0266462319000308

AUTORES / AUTHORS: - Xu Y;

INSTITUCIÓN / INSTITUTION: - Key Lab of Health Technology Assessment,National Health Commission (Fudan University),School of Public Health,Fudan University,Shanghai,China. 

RESUMEN / SUMMARY: - There is little evidence in China regarding the cost-effectiveness of non-invasive prenatal testing (NIPT) for Down syndrome (DS). This study aims to evaluate the cost-effectiveness of NIPT and provide evidence to inform decision-making. METHODS: To determine the cost-effectiveness of NIPT for DS, a decision-analytic model was developed using the TreeAge Pro software from a societal perspective in a simulated cohort of 10 000 pregnant women. Main indicators were based on field surveys from sampled hospitals in four locations in China and a literature review. RESULTS: The conventional maternal serum screening (CMSS) strategy, contingent screening strategy (NIPT delivered to high risk pregnant women after CMSS), and universal screening strategy could prevent 3.02, 7.53, and 9.97 DS births, respectively. NIPT would decrease unnecessary invasive procedures, resulting in fewer procedure-related miscarriages. The cost-effectiveness ratio of the contingent screening strategy was the lowest. When compared with the CMSS strategy, the incremental cost per DS birth averted by the contingent screening strategy and universal screening strategy were USD 20,160 and 352,388, respectively. One-way sensitivity analysis showed that, if the cost of NIPT could be decreased to USD 76.92, the cost-effectiveness ratio of the universal screening strategy would be lower than the CMSS strategy. CONCLUSIONS: Although NIPT has the merits of greater effectiveness and safety, CMSS is unlikely to be replaced by NIPT at this time because of NIPT’s higher cost. Contingent screening may be an appropriate strategy to balance the effectiveness and cost factors of the new genetic testing technology.

TÍTULO / TITLE:   - The Effect of Inhibin A on Prenatal Screening Results for Down Syndrome in the High Risk Czech Pregnant Women.

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REVISTA / JOURNAL:    - Clin Lab. 2019 May 1;65(5). doi: 10.7754/Clin.Lab.2018.180910.

Enlace a la Editora de la Revista http://dx.doi.org/10.7754/Clin.Lab.2018.180910

AUTORES / AUTHORS: - Loucky J et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Currently, prenatal testing is based on an ultrasound examination, the testing of certain biochemical markers and, most recently, also on the analysis of fragments from the extracellular DNA of the fetus in the mother s blood. The aim of this work was to verify whether inhibin A testing during pregnancy can help influence the risk distribution of Down syndrome screening results in high risk population and thus possibly reduce the number of unnecessarily invasive procedures, or for better stratification of risks when deciding on non-invasive DNA testing. METHODS: The concentrations of inhibin A were measured using a chemiluminescent immunoassay in two groups of screening tests. The first group (triple test) included a total of 277 pregnant women; the second group (integrated test) included 91 pregnant women. Risk assessments of screenings were performed using Alpha software, LMS. RESULTS: The resulting risk for pregnant women without the determination of inhibin A was higher or equal to 1:300 (triple test) and 1:150 (integrated test). Inhibin A was then measured in the monitored groups and the risk was recalculated. In the first group (triple test) the risk was lower than 1:300 in 152 pregnant women and in the other group (the integrated test) in 47 pregnant women. At the end of the study, all results were compared with the outcome of the pregnancy. CONCLUSIONS: The results obtained show that the inclusion of inhibin A in screening protocols reduces the number of positive results in high risk population screened without inhibin A.

TÍTULO / TITLE:   - The clinical usefulness of biochemical (free beta-hCg, PaPP-a) and ultrasound (nuchal translucency) parameters in prenatal screening of trisomy 21 in the first trimester of pregnancy.

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REVISTA / JOURNAL:    - Ginekol Pol. 2019;90(3):161-166. doi: 10.5603/GP.2019.0029.

Enlace a la Editora de la Revista http://dx.doi.org/10.5603/GP.2019.0029

AUTORES / AUTHORS: - Ziolkowska K; et al

INSTITUCIÓN / INSTITUTION: - Chair and Department of Laboratory Analyses, Poznan University of Medical Sciences, Poznan, Poland.  

RESUMEN / SUMMARY: - The aim of the study was to analyze the correlation of multiples of the normal median of PAPP-A, free beta-hCG levels and nuchal translucency values in prenatal, first trimester screening of trisomy 21 in pregnant women. MATERIAL AND METHODS: 251 pregnant women underwent antenatal screening at 11-13+6 weeks of pregnancy which was composed of the measurement of free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein (PAPP-A) levels in the maternal serum and an ultrasound assessment of nuchal translucency (NT). The pregnant women with a high risk of trisomy 21 (>/= 1:300) were given amniocentesis to verify fetal defects. There were 217 cases of normal fetal karyotype and 34 cases of trisomy 21. PAPP-A, beta-hCGMoM and NT values were analyzed for the predefined ranges. RESULTS: 85% cases of trisomy 21 had elevated free beta-hCGMoM (> 1.5) and only 53% of these had a PAPP-AMoM result below 0.5 (p < 0.05). Analysis of NT in selected ranges of beta-hCG (> 1.5) and PAPP-AMoM (< 0.05), which are typical for Down Syndrome values, showed that not all fetuses with Down Syndrome presented with an increased NT. Respectively 44.15% and 26.5% of fetuses presented with increased NT. Characteristic for trisomy 21, a correlation with all 1st trimester screening tests’ parameters occurred in only 23.5% of cases. In 53% of cases the results were atypical. CONCLUSIONS: The PAPP-A and beta-hCG values in the selected MoM ranges did not shown a correlation to the NT measurement, therefore they are independent factors in the diagnosis of trisomy 21. Simultaneous biochemical and ultrasound testing is an indispensable condition for prenatal diagnosis of trisomy 21 in the 1st trimester of pregnancy.

TÍTULO / TITLE:   - Application of Differentially Methylated Loci in Clinical Diagnosis of Trisomy 21 Syndrome.

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REVISTA / JOURNAL:    - Genet Test Mol Biomarkers. 2019 Apr;23(4):246-250. doi: 10.1089/gtmb.2018.0176.

Enlace a la Editora de la Revista http://dx.doi.org/10.1089/gtmb.2018.0176

AUTORES / AUTHORS: - Zhang R; et al.

INSTITUCIÓN / INSTITUTION: - 1 Department of Obstetrics and Gynecology, Second Affiliated Hospital of Soochow University, Suzhou, China. 

RESUMEN / SUMMARY: - AIMS: To determine the diagnostic precision of using different sets of fetal-specific methylation markers with methylation-sensitive restriction enzyme-quantitative polymerase chain reaction (MSRE-qPCR) for detection of trisomy 21 (T21). MATERIALS AND METHODS: The diagnostic value for trisomy 21 of differential methylation of HLCS, C21orf25, and RASSF1A (a fetal-specific internal control) was examined by MSRE-qPCR. RESULTS: The combined marker set of HLCS and RASSF1A achieved accurate quantification of fetal-specific chromosome 21 and was an excellent marker for detecting the presence of three copies of chromosome 21. MSRE-qPCR correctly identified three cases of fetal T21 from 11 clinical samples, which were 100% consistent with karyotyping results. In addition, this method was able to detect fetal-specific, T21-derived, cell-free fetal DNA at concentrations as low as 0.1%. CONCLUSIONS: Evaluation of the HLCS and RASSF1A fetal-specific methylation marker set by MSRE-qPCR could be a highly sensitive, specific, cost-effective, and noninvasive prenatal screening method for T21. This MSRE-qPCR testable marker should be considered as an alternative to next generation sequencing technology for diagnosing fetal T21.

TÍTULO / TITLE:   - Comparison of First Trimester Screening for Down’s Syndrome Using Free Beta-Human Chorionic Gonadotropin and Pregnancy-Associated Plasma Protein-A Levels between Spontaneous and IVF Pregnancies at 12

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REVISTA / JOURNAL:    - Int J Fertil Steril. 2019 Jul;13(2):93-96. doi: 10.22074/ijfs.2019.5295. Epub 2019 Apr 27.

Enlace a la Editora de la Revista http://dx.doi.org/10.22074/ijfs.2019.5295

AUTORES / AUTHORS: - Taheripanah R; et al

INSTITUCIÓN / INSTITUTION: - Infertility Center, Department of Obstetrics and Gynecology, Mazandaran University of Medical Sciences, Sari, Iran 

RESUMEN / SUMMARY: - In some previous studies, it was shown that first trimester screening tests produce equivocal results in in vitro fertilization (IVF) pregnancies. The purpose of this study was to compare free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPPA) levels between single normal and IVF pregnancies during 11 to 13 week (+ 6 day) of gestational age. Materials and Methods: In this observational cohort study, 300 consecutive single IVF pregnancies and 700 single normal pregnancies were enrolled at about 11-13 week + 6 day gestational age and levels of free beta-hCG and PAPPA were compared between the groups. Results: The results demonstrated that PAPPA (P=0.026) was significantly lower and beta-hCG (P=0.030) was significantly higher in IVF pregnancies. The other factors including nuchal translucency (NT) and crown-rump length (CRL) and demographic characteristics did not significantly differ between the groups (P>0.05). Conclusion: This study showed that PAPPA levels are lower but free beta-hCG levels are higher in single IVF versus normal pregnancies. This finding could be related to different placentation in intracytoplasmic sperm injection (ICSI) technique because of alterations in oocyte cytoplasm. Therefore, these markers may need to be adjusted in assisted reproductive technology (ART) conceptions. Further research should be done to obtain optimal cut-off for these markers in first trimester screening for detection of Down syndrome in ART pregnancies.

TÍTULO / TITLE:   - Knowledge of Prenatal Screening, Down Syndrome, Amniocentesis, and Related Factors among Iranian Pregnant Women: A Cross-Sectional Study.

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REVISTA / JOURNAL:    - Int J Community Based Nurs Midwifery. 2019 Apr;7(2):150-160.

Enlace a la Editora de la Revista http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=31041325&dopt=Abstract

AUTORES / AUTHORS: - Rabiee M; et al

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, School of Medicine, Shahed University, Tehran, Iran. 

RESUMEN / SUMMARY: - The primary goal of prenatal aneuploidy screening is the early detection of pregnancies at high risk of Down syndrome (DS). The present study aimed to assess the knowledge about the prenatal screening test (PST), DS, and amniotic fluid test (AFT) among Iranian pregnant women. Methods: The present cross-sectional study was conducted from April 2013 to July 2014 in Mostafa Khomeini Educational Hospital, Tehran, Iran. The participants were recruited among pregnant women referred to the Obstetrics and Gynecology Clinic of the hospital for their routine medical evaluations. A total of 471 consecutive women fulfilling the inclusion criteria were enrolled in the study. The data collection instruments included a 9-item socio-demographic information form and a 23-item knowledge questionnaire. The latter included 9 items on DS, 10 items on PST, and 4 items on AFT. The data were analyzed using the SPSS software (version 20.0) with the Kruskal-Wallis and Mann-Whitney tests. P<0.05 was considered statistically significant. Results: The mean score of total knowledge, PST, DS, and AFT was 9.93+/-4.86, 5.26+/-2.19, 3.25+/-2.42, and 1.41+/-1.39, respectively. There was a significant correlation between the mean score of total knowledge and the age of the mother (P=0.019), gestational age (P=0.001), educational level of the mother and spouse (P=0.001), history of birth abnormality (P=0.03), history of birth abnormality in the family (P=0.02), and sources of information (P=0.001). Conclusion: The results showed that the mean score of knowledge in pregnant women was less than half of the total scores, and total score was related to various parameters. Intervention factors that could contribute to improved knowledge and informed decision-making among pregnant women should be considered.

TÍTULO / TITLE:   - An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21.

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REVISTA / JOURNAL:    - PLoS One. 2019 Apr 12;14(4):e0215368. doi: 10.1371/journal.pone.0215368. eCollection 2019.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0215368

AUTORES / AUTHORS: - Sun X et al

INSTITUCIÓN / INSTITUTION: - Human Genetics Resource Center, National Research Institute for Family Planning, Beijing, China.; Graduate School, Peking Union Medical College, Beijing, China. 

RESUMEN / SUMMARY: - Molecular size determination of circulating free fetal DNA in maternal plasma is an important detection method for noninvasive prenatal testing (NIPT). The fetal DNA molecule is the primary factor determining the overall performance of NIPT and its clinical interpretation. The proportion of cell-free fetal DNA molecules is expressed as the fetal DNA fraction in the plasma of pregnant women. METHODS: We proposed an effective method to deduce fetal chromosomal aneuploidy based on the proportion of a certain range of DNA fragment lengths from maternal plasma. We gradually narrowed the range of the upper and lower boundary via a traversing algorithm. RESULTS: We explored the optimal range of the upper and lower boundary by using size-based DNA fragment length. Using this range, the accuracy of the sensitivity and specificity could be improved by up to 100% for detecting the three most common autosomal aneuploidies, namely trisomy 13, trisomy 18, trisomy 21 in the sample set. CONCLUSIONS: Numerical experiments demonstrate that our method is effective and efficient. The program is available upon request.

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome.

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REVISTA / JOURNAL:    - J Autism Dev Disord. 2019 May 23. pii: 10.1007/s10803-019-04074-1. doi: 10.1007/s10803-019-04074-1.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10803-019-04074-1

AUTORES / AUTHORS: - Channell MM; et al.

INSTITUCIÓN / INSTITUTION: - Department of Speech and Hearing Science, University of Illinois at Urbana-Champaign, 901 S. Sixth St., Champaign, IL, 61820, USA. 

RESUMEN / SUMMARY: - We examined autism spectrum disorder (ASD) risk in a large national sample of 203 individuals with Down syndrome, 6-25 years old, to determine the association of ASD risk with age, sex, IQ, adaptive behaviors, and maladaptive behaviors. We used a two-pronged approach by (1) considering ASD symptomatology continuously across the sample of individuals with DS and examining associations with each characteristic, and (2) dichotomizing our sample into high and low ASD risk groups and comparing groups on each characteristic. The pattern of results was largely similar across both types of analyses. ASD symptomatology/risk was negatively associated with IQ and adaptive behaviors and positively associated with certain types of maladaptive behaviors. Clinical implications for screening and therapeutic purposes are discussed.

TÍTULO / TITLE:   - Autism spectrum disorder (ASD) symptom profiles of children with comorbid Down syndrome (DS) and ASD: A comparison with children with DS-only and ASD-only.

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REVISTA / JOURNAL:    - Res Dev Disabil. 2019 Jun;89:83-93. doi: 10.1016/j.ridd.2019.03.003. Epub 2019 Apr 6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2019.03.003

AUTORES / AUTHORS: - Godfrey M; et al

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Drexel University, Philadelphia, PA, United States. 

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with increased rates of autism spectrum disorder (ASD), characterized by social-communicative impairments (SOC-COM) and repetitive behaviors and interests (RBI). However, little is known about the ASD symptom presentation in children with DS + ASD. AIMS: The current study sought to describe parent-report of SOC-COM and RBI symptoms on the Autism Diagnostic Interview -Revised (ADI-R) in children with DS (n = 22), DS + ASD (n = 11), and ASD (n = 66). METHOD: SOC-COM and RBI scores from the ADI-R were compared across the groups whose autism status was ascertained using the Autism Diagnostic Observation Schedule. RESULTS: Differences in SOC-COM and RBI symptom severity was observed. The general pattern of findings was ASD > DS+ASD > DS. Dissimilar ASD symptom profiles were observed across groups. In ASD, SOC-COM scores were higher than RBI scores; in DS + ASD, similar SOC-COM and RBI scores were observed. Lastly, SOC-COM impairments were highly related to verbal cognition in youth with DS + ASD but not in those with DS or ASD. CONCLUSIONS AND IMPLICATIONS: These findings suggest that children with DS + ASD have a distinct profile of ASD symptoms that differs from peers with either disorder in isolation. Thus, care should be taken in evaluating and designing treatments for this group.

TÍTULO / TITLE:   - Social support and post-crisis growth among mothers of children with autism spectrum disorder and mothers of children with down syndrome.

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REVISTA / JOURNAL:    - Res Dev Disabil. 2019 Jul;90:22-30. doi: 10.1016/j.ridd.2019.04.010. Epub 2019 Apr 25.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2019.04.010

AUTORES / AUTHORS: - Alon R

INSTITUCIÓN / INSTITUTION: - Michalal Jersualem College, Baruch Duvdevani 36, Jerusalem, 9116002, Israel 

RESUMEN / SUMMARY: - Raising a child with special needs challenges mothers in complicated ways, yet, alongside these difficulties, there is evidence for maternal post-crisis growth. Social support is one element that may contribute to growth. AIMS: This study explores the relationship between social support and post-crisis growth, examines type of disability as a mediating variable between support and growth, and, looks at the relations between subtypes of support and growth. METHODS & PROCEDURES: Participants included 99 mothers of children with Autism Spectrum Disorder (ASD) and 119 mothers of children with Down Syndrome (DS). Mothers completed three self-report questionnaires: demographic, Multidimensional Scale of Perceived Social Support, and the Stress-Related Growth Scale. RESULTS: Social support was found to predict maternal post-crisis growth with type of disability serving as a mediating variable between them, such that social support contributes to post-crisis growth only among mothers of children with ASD. In addition, results revealed various correlations between types of support and types of growth. CONCLUSIONS & IMPLICATIONS: The findings indicate that compared to DS, characteristics of ASD may contribute to less maternal post-crisis growth, and that social support serves as an important predictor for growth in this group. Finding ways to increase social support for mothers of children with ASD thus gains additional importance.

TÍTULO / TITLE:   - Autism needs to be considered in children with Down syndrome.

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REVISTA / JOURNAL:    - Acta Paediatr. 2019 May 15. doi: 10.1111/apa.14850.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/apa.14850

AUTORES / AUTHORS: - Wester Oxelgren U;

INSTITUCIÓN / INSTITUTION: - Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden. 

RESUMEN / SUMMARY: - AIM: To analyse levels and profiles of autism symptoms in children with Down syndrome (DS) with and without diagnosed autism spectrum disorder (ASD) and to specifically study the groups with severe Intellectual disability (ID). METHODS: From a population-based cohort of 60 children with DS (age 5-17 years) with 41 participating children, scores obtained from the Autism Diagnostic Observation Schedule (ADOS) Module-1 algorithm were compared between those with and without diagnosed ASD. Children with DS and ASD were also compared to a cohort of children with idiopathic ASD, presented in the ADOS manual. RESULTS: Children with DS and ASD had significantly higher ADOS scores in all domains compared to those without ASD. When the groups with DS, with and without ASD, were restricted to those with severe ID, the difference remained. When the children with DS and ASD and the idiopathic autism group were compared, the ADOS profiles were similar. CONCLUSION: A considerable proportion of children with DS has ASD but there is also a group of children with DS and severe ID without autism. There is a need to increase awareness of the high prevalence of autism in children with DS to ensure that appropriate measures and care are provided.

TÍTULO / TITLE:   - Sensory Processing and Maladaptive Behavior: Profiles Within the Down Syndrome Phenotype.

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REVISTA / JOURNAL:    - Phys Occup Ther Pediatr. 2019 May 9:1-16. doi: 10.1080/01942638.2019.1575320.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/01942638.2019.1575320

AUTORES / AUTHORS: - Will EA; ... Daunhauer... Fidler DJ... Hepburn S

INSTITUCIÓN / INSTITUTION: - Department of Human Development and Family Studies , Colorado State University , Fort Collins , CO, USA 

RESUMEN / SUMMARY: - AIM: Sensory processing impairments are well characterized in children with neurodevelopmental disorders, particularly autism, and have been associated with maladaptive behaviors. However, little is known regarding sensory processing difficulties within Down syndrome, or how these difficulties may influence maladaptive behavior. This study aims to characterize sensory processing difficulties within the Down syndrome phenotype and determine the influence of processing difficulties on maladaptive behavior. METHODS: To explore this issue, we administered the Short Sensory Profile and the Developmental Behavior Checklist to parents or primary caregivers of young children with DS (N = 49; M nonverbal mental age (NVMA) = 30.92 months (SD = 12.30); M chronological age (CA) = 67.04 (SD = 25.13). RESULTS: Results indicated that Low Energy/Weak, Under-responsive/Seeks Sensation, and Auditory Filtering were the areas of greatest sensory regulation difficulty, and that Self-Absorbed behavior and Disruptive/Antisocial behavior were elevated areas of maladaptive behavior. Multivariate regression analyses indicated that Under-responsive/Seeks Sensation was the only sensory regulation domain significantly associated with Self-Absorbed and Disruptive/Antisocial behavior. CONCLUSION: Findings indicate a consistent pattern of sensory processing impairments and associations with maladaptive behavior in children with DS. Implications for interventions are discussed.

TÍTULO / TITLE:   - Reliability of Informant-Report Measures of Executive Functioning in Children With Down Syndrome.

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REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2019 May;124(3):220-233. doi: 10.1352/1944-7558-124.3.220.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-124.3.220

AUTORES / AUTHORS: - Esbensen AJ; et al

INSTITUCIÓN / INSTITUTION: - University of Cincinnati College of Medicine and Cincinnati Children’s Hospital Medical Center;  

RESUMEN / SUMMARY: - The current study evaluates the psychometric properties of the Behavior Rating Inventory of Executive Function (BRIEF) with children with Down syndrome. Caregivers of 84 children with Down syndrome rated their child’s behavior with the BRIEF. Teacher ratings were obtained for 57 children. About 40% of children with Down syndrome were reported by parents, and 70% by teachers, to exhibit clinically significant challenges with executive functioning. Distribution of scores was normal, internal consistency for subscales was questionable to primarily excellent, and inter-rater reliability was poor to good. Normative data conversions controlled for age, IQ, and gender differences, with some exceptions. The study findings suggest that the BRIEF and its subscales generally performed in a psychometrically sound manner among children with Down syndrome.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Social support and post-crisis growth among mothers of children with autism spectrum disorder and mothers of children with down syndrome.

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REVISTA / JOURNAL:    - Res Dev Disabil. 2019 Jul;90:22-30. doi: 10.1016/j.ridd.2019.04.010. Epub 2019 Apr 25.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2019.04.010

AUTORES / AUTHORS: - Alon R

INSTITUCIÓN / INSTITUTION: - Michalal Jersualem College, Baruch Duvdevani 36, Jerusalem, 9116002, Israel. 

RESUMEN / SUMMARY: - Raising a child with special needs challenges mothers in complicated ways, yet, alongside these difficulties, there is evidence for maternal post-crisis growth. Social support is one element that may contribute to growth. AIMS: This study explores the relationship between social support and post-crisis growth, examines type of disability as a mediating variable between support and growth, and, looks at the relations between subtypes of support and growth. METHODS & PROCEDURES: Participants included 99 mothers of children with Autism Spectrum Disorder (ASD) and 119 mothers of children with Down Syndrome (DS). Mothers completed three self-report questionnaires: demographic, Multidimensional Scale of Perceived Social Support, and the Stress-Related Growth Scale. RESULTS: Social support was found to predict maternal post-crisis growth with type of disability serving as a mediating variable between them, such that social support contributes to post-crisis growth only among mothers of children with ASD. In addition, results revealed various correlations between types of support and types of growth. CONCLUSIONS & IMPLICATIONS: The findings indicate that compared to DS, characteristics of ASD may contribute to less maternal post-crisis growth, and that social support serves as an important predictor for growth in this group. Finding ways to increase social support for mothers of children with ASD thus gains additional importance.

TÍTULO / TITLE:   - Comparing parental stress of children with neurodevelopmental disorders: The case of Williams syndrome, Down syndrome and autism spectrum disorders.

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2019 Apr 5. doi: 10.1111/jar.12594.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12594

AUTORES / AUTHORS: - Ashworth M; et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Kingston University London, Kingston upon Thames, UK. 

RESUMEN / SUMMARY: - Although parental stress is higher for children with neurodevelopmental disorders (NDs), it is unclear how this stress compares to more common NDs. The current study compared stress in parents of children with Williams syndrome (WS), Down syndrome (DS) and autism spectrum disorders (ASD). The impact of individual and contextual factors was also explored. METHOD: Parents of children with WS (n = 107), DS (n = 79) and ASD (n = 79) completed a background questionnaire, a parental stress questionnaire and a satisfaction with life questionnaire. RESULTS: Although all groups displayed similar levels of parental stress, the factors that influenced this stress differed between the groups. There were also differences for life satisfaction and relationships between parental stress and individual and contextual factors. CONCLUSIONS: Although parents of children with NDs are not at an increased risk of parental stress, the results suggest that interventions should be syndrome-specific.

TÍTULO / TITLE:   - mHealth family adaptation intervention for families of young children with Down syndrome: A feasibility study.

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REVISTA / JOURNAL:    - J Pediatr Nurs. 2019 Mar 27. pii: S0882-5963(18)30577-3. doi: 10.1016/j.pedn.2019.03.010.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.pedn.2019.03.010

AUTORES / AUTHORS: - Choi H; Van Ripper M.

INSTITUCIÓN / INSTITUTION: - College of Nursing & Research Institute of Nursing Science, Kyungpook National University, 41944, 680 Gukchabosangro, Jung-gu, Daegu, South Korea. 

RESUMEN / SUMMARY: - The aim of this study was to explore the feasibility of using the mHealth Family Adaptation Intervention (FamilyAdapt-DS), with families of young children with Down syndrome (DS), and to assess the effect of participating in this mHealth intervention on family adaptation. DESIGN AND METHODS: A one-group pre-test post-test design was employed. Sixteen parents from eight families of young children with DS (under the age of three years) participated in this study between September 2015 and September 2016. A Wilcoxon signed rank test was used to identify the difference between the pre-test and post-test scores. RESULTS: All parents perceived that the program was feasible to use and they were willing to recommend the intervention to other families. Improvements were noted between pre-test and post-test scores. For fathers, views of their child’s daily life became more positive, their child’s condition became more manageable, their problem-solving communication became more affirming and their family functioning scores improved. Mothers reported less difficulty managing their child’s condition. CONCLUSIONS: These findings suggest that FamilyAdapt-DS is a feasible m-Health intervention for families of young children with DS; however, scaling up of this program with larger and more diverse samples is needed to test its effectiveness. PRACTICE IMPLICATIONS: Nurses and other healthcare providers may find it helpful to use therapeutic conversations and mHealth interventions such as the one described in this paper to tailor the care they provide to families of young children with DS.

TÍTULO / TITLE:   - Friendships and patterns of social leisure participation among Norwegian adolescents with Down syndrome.

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2019 Apr 30. doi: 10.1111/jar.12609.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12609

AUTORES / AUTHORS: - Dolva AS et al

INSTITUCIÓN / INSTITUTION: - Inland Norway University of Applied Sciences, Elverum, Norway. 

RESUMEN / SUMMARY: - A first generation of adolescents with Down syndrome have grown up in Norway’s inclusive society. This study explored their friendships and social leisure participation, mainly as it is reflected through their subjective experience. METHOD: The analysis is based on qualitative interviews and observations of 22 teens aged 17 years. RESULTS: Generally, the adolescents described their social life as rich and varied, occurring in several contexts with different companions. Their thoughts of friendships were quite extensive, also including less close relationships. Three main contextual patterns of social participation were revealed: (a) the family at home pattern, (b) the peer group pattern and (c) the arranged company pattern. The relationship between the national policy on social inclusion and these findings is discussed. CONCLUSION: To understand the barriers and opportunities in the social life of Norwegian adolescents with Down syndrome, it is essential to acknowledge the extent of their experiences with friendship and the characteristics of their social participation patterns.

TÍTULO / TITLE:   - Obstructive Sleep Apnea in Children With Down Syndrome: Screening and Effect of Guidelines.

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REVISTA / JOURNAL:    - Clin Pediatr (Phila). 2019 Apr 29:9922819845333. doi: 10.1177/0009922819845333.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0009922819845333

AUTORES / AUTHORS: - Hsieh et al.

INSTITUCIÓN / INSTITUTION: - 1 Boston University, Boston, MA, USA. 

RESUMEN / SUMMARY: - Previous studies have shown low rates of screening for obstructive sleep apnea in children with Down syndrome (DS), a high-prevalence population. Our study investigated the impact of the 2011 American Academy of Pediatrics guidelines, which recommends screening for obstructive sleep apnea with polysomnogram by age 4 years. We conducted a retrospective chart review of patients 0 to 18 years of age with DS seen at a medical center between 2006 and 2016. Polysomnogram screening frequency was investigated and compared pre- and post-guideline publication. A total of 136 participants were identified. Thirty-two percent (44/136) of children with DS were referred for polysomnogram, all of whom had symptoms. Although overall referral frequency was unaffected, completion frequency by age 18 years improved after publication (30% [21/69] vs 19% [13/67]; P < .05). Notably, polysomnogram completion frequency by age 4 years improved after guidelines publication compared with prior (25% [17/69] vs 0% [0/67]; P < .0001).

Therapeutics - Terapéutica

TÍTULO / TITLE:   - Neonatal treatment with cyclosporine A restores neurogenesis and spinogenesis in the Ts65Dn model of Down syndrome.

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REVISTA / JOURNAL:    - Neurobiol Dis. 2019 May 11;129:44-55. doi: 10.1016/j.nbd.2019.05.005.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.nbd.2019.05.005

AUTORES / AUTHORS: - Stagni F; ... Bartesaghi R; Guidi S

INSTITUCIÓN / INSTITUTION: - Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy 

RESUMEN / SUMMARY: - Down syndrome (DS), a genetic condition due to triplication of chromosome 21, is characterized by reduced proliferation of neural progenitor cells (NPCs) starting from early life stages. This defect is worsened by a reduction of neuronogenesis (accompanied by an increase in astrogliogenesis) and dendritic spine atrophy. Since this triad of defects underlies intellectual disability, it seems important to establish whether it is possible to pharmacologically correct these alterations. In this study, we exploited the Ts65Dn mouse model of DS in order to obtain an answer to this question. In the framework of an in vitro drug-screening campaign of FDA/EMA-approved drugs, we found that the immunosuppressant cyclosporine A (CSA) restored proliferation, acquisition of a neuronal phenotype, and maturation of neural progenitor cells (NPCs) from the subventricular zone (SVZ) of the lateral ventricle of Ts65Dn mice. Based on these findings, we treated Ts65Dn mice with CSA in the postnatal period P3-P15. We found that treatment fully restored NPC proliferation in the SVZ and in the subgranular zone of the hippocampal dentate gyrus, and total number of hippocampal granule cells. Moreover, CSA enhanced development of dendritic spines on the dendritic arbor of the granule cells whose density even surpassed that of euploid mice. In hippocampal homogenates from Ts65Dn mice, we found that CSA normalized the excessive levels of p21, a key determinant of proliferation impairment. Results show that neonatal treatment with CSA restores the whole triad of defects of the trisomic brain. In DS CSA treatment may pose caveats because it is an immunosuppressant that may cause adverse effects. However, CSA analogues that mimic its effect without eliciting immunosuppression may represent practicable tools for ameliorating brain development in individuals with DS.

Urinary/Renal - Urinario/Renal

TÍTULO / TITLE:   - End-stage renal disease in a Down syndrome patient caused by delayed diagnosis of nonneurogenic bladder: A case report.

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REVISTA / JOURNAL:    - Medicine (Baltimore). 2019 Apr;98(15):e15145. doi: 10.1097/MD.0000000000015145.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MD.0000000000015145

AUTORES / AUTHORS: - Kim GE; et al.

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Korea. 

RESUMEN / SUMMARY: - Patients with Down syndrome (DS) have a higher incidence of nonneurogenic neurogenic bladder (NNB) than do normal subjects. Renal failure may occur frequently in NNB patients. Although most of the cases of NNB patients with DS reported to date have been acute renal injuries, we report a patient with DS who was diagnosed late with urinary tract obstruction due to NNB that finally proceeded to end-stage renal disease (ESRD). This case of terminal renal failure is the first such reported case in the world. PATIENT CONCERNS: A 35-year-old female patient had visited another hospital for 1 month for abdominal discomfort, nausea, constipation, and palpable mass. Cystic mass in the pelvic cavity, increased BUN, and Cr findings were observed. Residual urine was 1.8 L. She had a history of DS. DIAGNOSES: Based on computed tomography and urodynamic study, ESRD due to NNB was diagnosed. INTERVENTIONS: An emergency hemodialysis was performed and a catheter was inserted into the bladder. Transfusion and amlodipine were administered according to the patient’s condition. There was no improvement in renal function seen, and so arteriovenous fistula surgery and regular hemodialysis were performed. OUTCOMES: The patient was discharged from the hospital with a bladder catheter. She was visited on a regular basis for catheter replacement and hemodialysis. LESSONS: Patients with DS have lower intelligence than normal people and often do not recognize or complain about inconveniences, even in the presence of urinary symptom. NNB has good prognosis when treated early, but there is a risk of ESRD if the diagnosis and treatment are delayed, as was the case here. Considering that the prevalence of NNB and other urinary tract diseases is high in patients with DS, clinicians need to take careful histories and observe deeply, even if the patient does not mention certain issues.

Education - Educación

TÍTULO / TITLE:   - Participation in Social Skills Therapy is Associated With Enhanced Recall Memory by Children With Down Syndrome: An Exploratory Study.

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REVISTA / JOURNAL:    - Behav Modif. 2019 Apr 9:145445519841051. doi: 10.1177/0145445519841051.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/0145445519841051

AUTORES / AUTHORS: - Milojevich HM; et al

INSTITUCIÓN / INSTITUTION: - University of California, Irvine, USA. 

RESUMEN / SUMMARY: - Participation in social skills therapy (SST) facilitates cognitive functioning in children with developmental disabilities. The present pilot study examined whether participation in SST was associated with enhanced encoding and 1-month delayed recall in children with Down syndrome (DS). Children were presented with novel three-step event sequences in an elicited imitation procedure. Immediate imitation was permitted as an index of encoding; long-term memory was assessed 1 month later. Parents completed questionnaires inquiring about children’s participation in SST. Participation in SST was associated with enhanced encoding of temporal order information and 1-month delayed recall of individual target actions. In addition, encoding mediated the relation between group and 1-month delayed recall. The conducted research indicates that involvement in SST may be beneficial for children with DS despite their noted strengths in imitation and social learning. As such, additional experimental work is warranted to determine causality.

TÍTULO / TITLE:   - Examining the effects of computerised cognitive training on levels of executive function in adults with Down syndrome.

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2019 May 6. doi: 10.1111/jir.12626.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12626

AUTORES / AUTHORS: - McGlinchey E; et al. McCarron M

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

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are at much greater risk of developing Alzheimer’s disease, and one of the early clinical symptoms of Alzheimer’s disease is executive dysfunction. In the general population, cognitive training has shown some promising results in relation to maintaining or improving cognitive processes. There is currently a gap in the literature in relation to cognitive training for adults with DS. METHODS: A quasi-experimental mixed factorial design with partial crossover was used involving an 8-week intervention period using a brain training programme. Participants were matched on age and then randomly assigned to either the intervention group or the delayed intervention group. Forty adults with DS, aged between 30 and 49 and with a mild or moderate level of intellectual disability, participated in the study. All participants completed baseline measures of executive function, using both neuropsychological assessments and an informant-rated measure of behavioural executive function. The intervention group first completed the training and then the delayed intervention group. Executive function assessments were repeated for both groups following the training. RESULTS: The study aimed to examine whether a cognitive training programme could have an effect on levels of executive function. While conclusions are limited owing to small sample size, improvement was seen in neuropsychological assessments of executive function following cognitive training. Positive effects reflected in everyday behaviours were not as promising. CONCLUSIONS: This study showed that, while it has not been previously an area of focus, individuals with DS can complete a computerised cognitive training programme. Furthermore, the results were promising with significant improvements found in neuropsychological assessments of executive function. These findings need further investigation with a larger sample size and would benefit from the use of a brain imaging component to strengt

TÍTULO / TITLE:   - Verb-mediated anticipatory eye movements in people with Down syndrome.

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REVISTA / JOURNAL:    - Int J Lang Commun Disord. 2019 Apr 14. doi: 10.1111/1460-6984.12473.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/1460-6984.12473

AUTORES / AUTHORS: - Arias-Trejo N; et al

INSTITUCIÓN / INSTITUTION: - Laboratorio de Psicolinguistica, Facultad de Psicologia, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico. 

RESUMEN / SUMMARY: - Children and adults with neurotypical development employ linguistic information to predict and anticipate information. Individuals with Down syndrome (DS) have weaknesses in language production and the domain of grammar but relative strengths in language comprehension and the domain of semantics. What is not clear is the extent to which they can use linguistic information, as it unfolds in real time, to anticipate upcoming information correctly. AIMS: To investigate whether children and young people with DS employ verb information to predict and anticipate upcoming linguistic information. METHODS & PROCEDURES: A preferential looking task was performed, using an eye-tracker, with children and teenagers with DS and a typically developing (TD) control group matched by sex and mental age (average = 5.48 years). In each of 10 trials, two images were presented, a target and a distractor, while participants heard a phrase that contained a semantically informative verb (e.g., ‘eat’) or an uninformative verb (e.g., ‘see’). OUTCOMES & RESULTS: Both DS and TD control participants could anticipate the target upon hearing an informative verb, and prediction skills were positively correlated with mental age in those with DS. CONCLUSIONS & IMPLICATIONS: This work demonstrates for the first time that children and teenagers with DS can predict linguistic information based on semantic cues from verbs, and that sentence processing is driven by predictive relationships between verbs and arguments, as in children with typical development. Clinicians can take advantage of these prediction skills, using them in therapy to support weaker areas.

TÍTULO / TITLE:   - Sensory Processing and Maladaptive Behavior: Profiles Within the Down Syndrome Phenotype.

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REVISTA / JOURNAL:    - Phys Occup Ther Pediatr. 2019 May 9:1-16. doi: 10.1080/01942638.2019.1575320.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/01942638.2019.1575320

AUTORES / AUTHORS: - Will EA; ... Daunhauer... Fidler DJ... Hepburn S

INSTITUCIÓN / INSTITUTION: - Department of Human Development and Family Studies , Colorado State University , Fort Collins , CO, USA. 

RESUMEN / SUMMARY: - AIM: Sensory processing impairments are well characterized in children with neurodevelopmental disorders, particularly autism, and have been associated with maladaptive behaviors. However, little is known regarding sensory processing difficulties within Down syndrome, or how these difficulties may influence maladaptive behavior. This study aims to characterize sensory processing difficulties within the Down syndrome phenotype and determine the influence of processing difficulties on maladaptive behavior. METHODS: To explore this issue, we administered the Short Sensory Profile and the Developmental Behavior Checklist to parents or primary caregivers of young children with DS (N = 49; M nonverbal mental age (NVMA) = 30.92 months (SD = 12.30); M chronological age (CA) = 67.04 (SD = 25.13). RESULTS: Results indicated that Low Energy/Weak, Under-responsive/Seeks Sensation, and Auditory Filtering were the areas of greatest sensory regulation difficulty, and that Self-Absorbed behavior and Disruptive/Antisocial behavior were elevated areas of maladaptive behavior. Multivariate regression analyses indicated that Under-responsive/Seeks Sensation was the only sensory regulation domain significantly associated with Self-Absorbed and Disruptive/Antisocial behavior. CONCLUSION: Findings indicate a consistent pattern of sensory processing impairments and associations with maladaptive behavior in children with DS. Implications for interventions are discussed.

TÍTULO / TITLE:   - Development of communicative abilities in infants with Down syndrome after systematized training in gestural communication

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REVISTA / JOURNAL:    - Rev Chil Pediatr. 2019 Apr;90(2):175-185. doi: 10.32641/rchped.v90i2.670.

Enlace a la Editora de la Revista http://dx.doi.org/10.32641/rchped.v90i2.670

AUTORES / AUTHORS: - Linn K; et al

INSTITUCIÓN / INSTITUTION: - Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Chile. 

RESUMEN / SUMMARY: - Gestural communication, understood as the use of non-verbal gestures before the word appears, is a strength in children with Down syndrome (DS). OBJECTIVE: To describe com munication development behaviors in children with DS, before and after gestural communication training, based on the “Signs, words and games” workshops of the Baby Signs® program. SUBJECTS AND METHOD: Prospective study of children with DS between 18 and 22 months of cognitive age, who were trained in gestural communication according to the “Baby Signs®” methodology, evaluating communication skills through the MacArthur inventory adapted for children with DS (Communica tive Development Inventories, CDI-DS), analyzing the scores before and three months after the in tervention. The evaluated items were: Early comprehension, First sentences comprehension, Starting to speak, Vocabulary list, and Decontextualized language use (part 1) and total, early and late gestures (part 2). RESULTS: 21 children completed the workshops, with an average chronological age of 27.5 months and 19.8 months of cognitive age. 29% of the participants increased their scores in sentence comprehension, 62% in vocabulary production with gestures, 33% improved in vocabulary compre hension, 57% lost early gestures, and 43% increased late gestures production. CONCLUSIONS: Gestural communication training favors the communication skills development in a group of children with DS, mainly in the initial understanding and gesture production. There is important inter-individual variability, therefore is necessary to consider child to child recommendations.

TÍTULO / TITLE:   - Effects of intervention intensity on skill acquisition and task persistence in children with Down syndrome.

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2019 May 7. doi: 10.1111/jar.12607.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12607

AUTORES / AUTHORS: - Neil NM, Jones EA;

INSTITUCIÓN / INSTITUTION: - Queens College, The Graduate Center, CUNY, Queens, New York. 

RESUMEN / SUMMARY: - Modifying intensity is one approach to tailoring intervention to meet the needs of learners with developmental disabilities. This study examined the effects of varying intensity levels of a behaviour analytic intervention on the efficiency of acquisition and task persistence in young children with Down syndrome. METHODS: Using adapted alternating treatment designs, three children were taught expressive language targets when three aspects of the dose of intervention intensity varied: number of opportunities, spacing of opportunities and session duration. RESULTS: Children acquired targets faster in conditions in which the spacing of opportunities was shorter than conditions in which the spacing was longer. Two children showed greater expression of positive affect in moderate levels of intensity. Children showed idiosyncratic differences in off-task behaviour. DISCUSSION: This research suggests that pacing of opportunities may be an important for understanding acquisition outcomes in a behaviour analytic approach to intervention for communication among young children with Down syndrome.

TÍTULO / TITLE:   - Retrieval practice as a learning strategy for individuals with Down syndrome A preliminary study.

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REVISTA / JOURNAL:    - Dement Neuropsychol. 2019 Jan-Mar;13(1):104-110. doi: 10.1590/1980-57642018dn13-010012.

Enlace a la Editora de la Revista http://dx.doi.org/10.1590/1980-57642018dn13-010012

AUTORES / AUTHORS: - Starling DSV; et al

INSTITUCIÓN / INSTITUTION: - PhD in Neuroscience, Federal University of Minas Gerais, MG, Brazil. 

RESUMEN / SUMMARY: - Remembering recently studied materials (i.e., retrieval practice) is more beneficial for learning than restudying these materials. Objective: To investigate whether retrieval practice benefits learning for individuals with Down syndrome. Methods: Eighteen individuals with Down syndrome (mean age=21.61 years, SD=5.93) performed a task entailing a first read of an encyclopedic text covering a series of target words. After reading the text twice, participants recalled half of the target words (retrieval practice), and reread the other half (restudy). After 48 hours, participants answered a multiple-choice test including all target words. Subsequently, WASI’s Vocabulary and Matrix reasoning subtests were administered to estimate intelligence. Results: The benefit of retrieval practice for learning was numerically greater than the benefit of restudy, although this advantage did not reach statistical significance. Inspection of individual data suggested that the benefit of retrieval practice was greater than the benefit of restudy for the majority of the participants, independently of the participants’ vocabulary or reasoning abilities. Conclusion: Although more research is needed before retrieval practice can be recommended as a learning strategy for individuals with Down syndrome, the data suggest that retrieval practice can be a useful teaching tool for at least part of this population.

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