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Ophthalmologic Manifestations and Retinal Findings in Children with Down Syndrome.
Conclusions: In the subjects with Down syndrome, the incidence of lens opacities, strabismus, and amblyopia was higher than the control group. CRT and pRNFL were thicker in the Down syndrome group than in control group. This may represent retinal developmental changes in the patients with Down syndrome. PMID: 32089873 [PubMed]
Source: Journal of Ophthalmology - February 25, 2020 Category: Opthalmology Tags: J Ophthalmol Source Type: research

Misleading claims of 'cure for Down's syndrome'
Conclusion This is interesting research investigating the effects on brain structure, learning and memory of using a chemical to treat mice with a condition similar to Down’s syndrome. The research found some positive results including normalisation of the structure of the cerebellum and improvements in learning and memory in the water maze test. However, it is far too early to say whether a similar treatment could be developed for use in humans, and what its effects might be. The chemical used mimics the effect of the Sonic hedgehog protein, which is naturally found in our bodies. This protein is essential for a wide ra...
Source: NHS News Feed - September 6, 2013 Category: Consumer Health News Tags: Genetics/stem cells Source Type: news

Current Estimate of Down Syndrome Population Prevalence in the United States
Conclusion: Our estimate of Down syndrome prevalence is roughly 25%-40% lower than estimates based solely on current birth prevalence. The results presented here can be considered a starting point for facilitating policy and services planning for persons with Down syndrome.
Source: The Journal of Pediatrics - July 25, 2013 Category: Pediatrics Authors: Angela P. Presson, Ginger Partyka, Kristin M. Jensen, Owen J. Devine, Sonja A. Rasmussen, Linda L. McCabe, Edward R.B. McCabe Tags: Original Articles Source Type: research

Abnormal Variations in the Facial Soft Tissues of Individuals With Down Syndrome: Sudan Versus Italy.
Conclusions :  The two ethnic groups had different alterations in their soft tissue facial dimensions that were partially influenced by age. PMID: 25275539 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - October 2, 2014 Category: ENT & OMF Authors: Sforza C, Dolci C, Dellavia C, Gibelli DM, Tartaglia GM, Elamin F Tags: Cleft Palate Craniofac J Source Type: research

Risk factors for mortality in Down syndrome
ConclusionsThere is significant medical morbidity in Down syndrome. This morbidity contributes to the lower life expectancy. Respiratory failure is a risk factor for mortality in Down syndrome. We need to thoroughly investigate people with Down syndrome to ensure any treatable illnesses are well managed.
Source: Journal of Intellectual Disability Research - April 9, 2015 Category: Disability Authors: H. Uppal, S. Chandran, R. Potluri Tags: Original Article Source Type: research

Association Between Down Syndrome And Mortality in Young Children with Critical Illness: A Propensity Matched Analysis
ConclusionIn this large, contemporary cohort, Down syndrome did not confer a significantly higher mortality risk among children with critical illness. However, children with Down syndrome followed a time‐dependent, differential mortality risk with increased risk noted in relation to increasing hospital length of stay.This article is protected by copyright. All rights reserved.
Source: Acta Paediatrica - July 21, 2015 Category: Pediatrics Authors: Punkaj Gupta, Mallikarjuna Rettiganti Tags: Regular Article Source Type: research

Association between Down syndrome and mortality in young children with critical illness: a propensity‐matched analysis
ConclusionIn this large, contemporary cohort, Down syndrome did not confer a significantly higher mortality risk among children with critical illness. However, children with Down syndrome followed a time‐dependent, differential mortality risk with increased risk noted in relation to increasing hospital LOS.
Source: Acta Paediatrica - September 10, 2015 Category: Pediatrics Authors: Punkaj Gupta, Mallikarjuna Rettiganti Tags: Regular Article Source Type: research

Pharmacological interventions for cognitive decline in people with Down syndrome.
CONCLUSIONS: Due to the low quality of the body of evidence in this review, it is difficult to draw conclusions about the effectiveness of any pharmacological intervention for cognitive decline in people with Down syndrome. PMID: 26513128 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - October 29, 2015 Category: Journals (General) Authors: Livingstone N, Hanratty J, McShane R, Macdonald G Tags: Cochrane Database Syst Rev Source Type: research

Generation of switched memory B cells in response to vaccination in Down syndrome children and their siblings.
CONCLUSIONS: Down syndrome individuals should be considered a high risk group, because of their increased susceptibility to infection and reduced number of switched memory B cells. Tailored vaccination protocols are needed in order to reduce their burden of infections throughout life. PMID: 26518399 [PubMed - as supplied by publisher]
Source: Vaccine - October 27, 2015 Category: Allergy & Immunology Authors: Valentini D, Marcellini V, Bianchi S, Villani A, Facchini M, Donatelli I, Castrucci MR, Marasco E, Farroni C, Carsetti R Tags: Vaccine Source Type: research

Management and outcomes of neonates with down syndrome admitted to neonatal units
ConclusionNeonates with Down syndrome are more likely than unaffected neonates to be admitted to a neonatal unit, have a prolonged stay, and be discharged home on supplemental oxygen. Birth Defects Research (Part A) 106:468–474, 2016. © 2016 Wiley Periodicals, Inc.
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - June 13, 2016 Category: Perinatology & Neonatology Authors: Jake P. Mann, Eugene Statnikov, Neena Modi, Nik Johnson, Anna Springett, Joan K. Morris Tags: Research Article Source Type: research

Current Surgical Outcomes of Congenital Heart Surgery for Patients With Down Syndrome in Japan.
CONCLUSIONS: Although intensive management of pulmonary hypertension is essential, analysis of the JCCVSD revealed favorable early prognostic outcomes after 5 major biventricular procedures and bidirectional Glenn in patients with Down syndrome. Indication of the Fontan operation for patients with Down syndrome should be carefully decided. PMID: 28904256 [PubMed - as supplied by publisher]
Source: Circulation Journal - September 12, 2017 Category: Cardiology Authors: Hoashi T, Hirahara N, Murakami A, Hirata Y, Ichikawa H, Kobayashi J, Takamoto S Tags: Circ J Source Type: research

Convergent validity of actigraphy with polysomnography and parent reports when measuring sleep in children with Down syndrome
ConclusionOur current data suggest that actigraph watches demonstrate convergent validity and are sensitive to measuring certain sleep constructs (duration, efficiency) in children with Down syndrome. However, parent reports, such as the Children's Sleep Habits Questionnaire, may be measuring other sleep constructs. These findings highlight the importance of selecting measures of sleep related to target concerns.
Source: Journal of Intellectual Disability Research - January 1, 2018 Category: Disability Authors: A. J. Esbensen, E. K. Hoffman, E. Stansberry, R. Shaffer Tags: Original Manuscript Source Type: research

Parent ‐reported health‐related quality of life of children with Down syndrome: a descriptive study
AimTo describe health‐related quality of life of Australian children and adolescents with Down syndrome and compare it with norm‐referenced data. MethodA cross‐sectional survey was conducted with parents of 75 children and adolescents (43 males, 32 females) with Down syndrome aged 5 to 18 years (mean age 13y 2mo, SD 4y 8mo). The proxy‐report KIDSCREEN‐27 questionnaire was administered and five dimensions of health‐related quality of life were measured. Data were analysed descriptively and compared with normative data. ResultsTotal group mean scores for psychological well‐being, autonomy and parent relation, a...
Source: Developmental Medicine and Child Neurology - January 23, 2018 Category: Child Development Authors: Nora Shields, Helen Leonard, Shannon Munteanu, Jennifer Bourke, Polly Lim, Nicholas F Taylor, Jenny Downs Tags: Original Article Source Type: research

Diagnostic algorithm of Down syndrome by minor physical anomaly.
Conclusion: The simian crease which is being considered as common physical anomaly is not specific for Down syndrome. The large scale study is required to extrapolate the above findings but surely it opens new avenue of research. PMID: 30581204 [PubMed]
Source: Indian Journal of Psychiatry - December 26, 2018 Category: Psychiatry Tags: Indian J Psychiatry Source Type: research

Application of Topographical Keratoconus Detection Metrics to Eyes of Individuals with Down Syndrome
CONCLUSIONS Morphology consistent with keratoconus as codified in the detection metrics I-S and KISA% is present in a large percentage of the eyes of individuals with Down syndrome. Differences were observed in the distribution of severity of corneal morphology in individuals with Down syndrome and the keratoconus population at large.
Source: Optometry and Vision Science - September 1, 2019 Category: Opthalmology Tags: ORIGINAL INVESTIGATIONS Source Type: research