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Research

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

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

The relationship between maternal psychiatric disorder, autism spectrum disorder and intellectual disability in the child: a composite picture

Research conducted by this laboratory has previously published four papers examining the relationship between maternal psychiatric disorders and having a...

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.

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

Research

A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders

Explored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement