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Research

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 syndrome.

Research

Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.

Research

Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability

Mothers of children with autism spectrum disorder or intellectual disability have higher rates of treatment episodes for psychiatric disorders

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Leisure participation for school-aged children with Down syndrome

Leisure participation for school-aged children with Down syndrome.

Research

It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome

The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome.

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Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach

Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach...

Research

How valid are the rates of Down syndrome internationally?

Rates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking.