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Showing results for "Neuromuscular disorders "

Parental Experiences of Having a Child Diagnosed With Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consi…

Review of trends in disabilities, mental health disorders and complex needs among children and adolescents

Review of trends in disabilities, mental health disorders and complex needs among children and adolescents

Maternal Vitamin D Levels and the Autism Phenotype Among Offspring

We tested whether maternal vitamin D insufficiency during pregnancy is related to the autism phenotype.

Expanding the clinical picture of the MECP2 Duplication syndrome

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndr…

Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: A systematic analysis

Measuring disease and injury burden in populations requires a composite metric that captures both premature mortality and the prevalence and severity…

Driving and Diabetes

disease, neurological disorders, chronic arthritis, sleep disorders, eye disorders and many others, meaning

IASSIDD 15th World Congress

rare disease registers to study individual rare disorders associated with intellectual disabilities

Autism Early Intervention Providers: Their Priorities, Use of Empirically Supported Practices, and Professional Development Needs

Autism early intervention research has indicated a research-to-practice gap, including continued use of practices with inadequate research support, a…

The increase in medical admissions with anorexia nervosa during the COVID-19 pandemic in Western Australia

A comparative study to describe the increase in medical admissions of children and adolescents with anorexia nervosa (AN) in Western Australia in 201…

Use of Neuroimaging to Predict Adverse Developmental Outcomes in High-Risk Infants

With advances in perinatal care, we have achieved major reductions in mortality in premature and critically ill infants, but they still remain at inc…