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Research

In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician.

Research

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk

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

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

Research

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

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

The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.

Research

There is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability

Research

It is biologically plausible that risk of autism spectrum disorder (ASD) is elevated by both short and long interpregnancy intervals (IPI). We conducted a retrospective cohort study of singleton, non-nulliparous live births.

Research

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