Clinical review: Down's syndrome

The aetiology of Down's syndrome, the screening process and management of comorbidities in childhood and adulthood.
Source: GP Online Education - Category: Primary Care Tags: 14 Care of People with Learning Disabilities Source Type: news

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(University of Missouri-Columbia) Down syndrome, due to an extra chromosome 21, occurs in 250,000 children and adults in the United States, making it the country's most common chromosomal disorder. Inherited heart defects, thyroid cancer, celiac disease and developmental disabilities are common Down syndrome complications. Only recently has catatonia, a behavioral condition marked by new onset immobility, mutism, withdrawal and other behavioral abnormalities, been recognized in Down syndrome.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Few health promotion interventions exist for adolescents and young adults with intellectual disabilities. This project evaluated the feasibility and satisfaction with a health promotion curriculum, Health U., adapted to a community-based setting by a nurse practitioner for individuals with Down syndrome and intellectual disabilities. Results demonstrate that this program was feasible and positively impacted participants. Caregivers of program participants were highly satisfied and would recommend this program.
Source: The Journal for Nurse Practitioners - Category: Nursing Authors: Tags: Brief Report Source Type: research
Conclusions and ImplicationsAlthough group differences were not found when considering parent-reported sleep problems, more frequent sleep problems were positively associated with increased forgetting by children with DS relative to those who were TD. Although future experimental work is needed to determine causality, these results suggest that improved sleep in children with DS might reduce forgetting, ultimately improving long-term recall memory.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
Abstract 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...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
(University of California - San Francisco) In a surprising finding using the standard animal model of Down syndrome (DS), scientists were able to correct the learning and memory deficits associated with the condition -- the leading genetic cause of cognitive disability and the most frequently diagnosed chromosomal disorder in the US -- with drugs that target the body's response to cellular stresses.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
In this study, we found that the integrated stress response (ISR)—a signaling network that maintains proteostasis—was activated in the brains of DS mice and individuals with DS, reprogramming translation. Genetic and pharmacological suppression of the ISR, by inhibiting the ISR-inducing double-stranded RNA–activated protein kinase or boosting the function of the eukaryotic translation initiation factor eIF2-eIF2B complex, reversed the changes in translation and inhibitory synaptic transmission and rescued the synaptic plasticity and long-term memory deficits in DS mice. Thus, the ISR plays a crucial role ...
Source: ScienceNOW - Category: Science Authors: Tags: Cell Biology, Neuroscience r-articles Source Type: news
MONDAY, Nov. 4, 2019 -- Most people with Down syndrome have dementia by age 55, a new study shows. People with Down syndrome are born with an extra copy of chromosome 21, which often results in developmental disabilities. Surviving to middle age...
Source: Drugs.com - Daily MedNews - Category: General Medicine Source Type: news
Conclusions: Based on the literature assessed, the Timed Up and Go is clinically applicable and reliable across multiple populations. The Timed Up and Go has a wide variety of clinical use making it a diverse measure that should be considered when choosing an outcome an activity based outcome measure. However, there are some limitations in the validity of the utilization of the Timed Up and Go to some populations due to a lack of data and/or poor choice of comparison outcome measures when assessing validity. Additional research is needed for young to middle aged adults. IMPLICATIONS FOR REHABILITATION Outcome measures are ...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
This study is the first to report the presence of defective interhemispheric connectivity at the time of birth in Ts65Dn mice, providing evidence that early therapeutic intervention may be an effective time window for the treatment of Down syndrome.
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
AbstractThe aim of this research study was to examine the effects of Assisted Cycling Therapy (ACT) on adaptive/maladaptive behaviors, depression, and self-efficacy in adolescents with Down syndrome (DS). The participants were counterbalanced to either intervention groups of 1) Assisted Cycling Therapy (ACT), in which the participants ’ voluntary pedaling rates were augmented with a motor to ensure the maintenance of 80 rpm or greater 2) Voluntary Cycling (VC), in which participants cycled at their self-selected pedaling rate or 3) No Cycling (NC), in which the participants sat and watched a video. The ACT and V...
Source: Journal of Developmental and Physical Disabilities - Category: Disability Source Type: research
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