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Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life

Research

To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.

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Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

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To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database.

Research

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...

Research

CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.

Research

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

Research

We aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability

Research

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience