Publication date: April 2020Source: Research in Developmental Disabilities, Volume 99Author(s):
Authors: Uysal SP, Sahin M Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. The brain, heart, skin, eyes, kidneys, and lungs are commonly involved in this syndrome, with the neurologic symptoms comprising a significant source of mo...
Conclusions. EXPAND provides evidence of the efficacy of siponimod compared with placebo, and these MAIC complement this by demonstrating improved efficacy of siponimod relative to DMTs. Siponimod offers a significant therapeutic advance that may slow disease progression compared to other DMTs in an EXPAND-like population with secondary progressive disease. PMID: 32220214 [PubMed - as supplied by publisher]
Social connectedness has positive effects on physical and mental health. Many aspects of life, including social networks, are increasingly technology-based, influenced by access to computers. Individuals with psychiatric disabilities may experience unique barriers to computer use. The current study evaluated computer use among 199 veterans in Connecticut and Houston, Texas, with psychiatric and/or physical disabilities, and its association with social integration. Two-thirds had used a computer within the past month, most commonly for information seeking, but also for social interaction. However, computer use and social in...
Conclusion: The relatively high prevalence of symptoms of the cervical spine dysfunction, chronic pain, stress, and neck disability among young people may indicate that numerous spinal disorders identified in dentists result not only from their profession, in which spine is significantly overloaded, but also individual predispositions including biopsychosocial profile and the changing lifestyle habits of young people.
Conclusions: The severity of trunk misalignment does not fully explain limitation in ADLs, motor impairment, falls, and back pain. Multiple factors possibly related to an aggressive PD phenotype may account for disability in PD patients with FTB, LTB, and FNB.
ConclusionSurvival in patients with ATTR-PN is highly variable and affected by non-cardiac baseline characteristics, such as autonomic dysfunction, large fiber involvement, late-onset disease, and non-Val30Met mutation. Careful interpretation of these findings is warranted given that this synthesis did not control for differences between studies. Survival in patients with ATTR-PN remains poor among those who are untreated or with delayed diagnosis.
Walter OlsonAs the “vast majority of states have closed public schools in an effort to slow the spread of the coronavirus,”reports NPR, “many districts are now faced with a dilemma: how to provide remote learning to students without running afoul of civil rights and disability laws. ” Whether due to lack of accessibility in online lessons themselves or lack of personal attendants to see to their needs during lessons, many special ed students “may not be able to adapt or follow along.” That’s a potential legal problem because the Individuals with Disabilities Education Act...
Advocates say that ventilator plans discriminate against people with mental and physical disabilities.
by Joseph Stramondo, PhD Bioethicists and physicians scrambling to develop triage protocols for the COVID-19 crisis might have been surprised that counsel from Self Advocates in Leadership (SAIL), Disability Rights Washington (DRW), and The Arc of the United States (The Arc) filed a complaint recently with the U.S. Department of Health and Human Services (HHS) Office for Civil Rights (OCR) over their concerns regarding disability discrimination in some of these protocols. Perhaps it is easy to dismiss such concerns as mere naivete that does not recognize the inevitability of the hard choices that are coming down the p...
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