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People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals
The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...
This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
Mothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.
In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.
The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...
Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...
Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...