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Research

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.

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To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.

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To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.

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To determine the feasibility of an intensive interdisciplinary programme in improving goal and motor outcomes for preschool-aged children with non-progressive neurodisabilities. The primary hypothesis was that the intervention would be feasible.

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Children with Down syndrome (DS, trisomy 21) are at a significantly higher risk of developing acute leukemia compared to the overall population. Many studies investigating the link between trisomy 21 and leukemia initiation and progression have been conducted over the last two decades.

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Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

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Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.

For thousands of children around Australia with intellectual and other disabilities, the process of eating can be traumatic, posing challenges that veer from uncomfortable to life threatening.

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This audit aimed to increase understanding of the long-term outcomes of evidence-based medical and surgical interventions to improve gross motor function in children and adolescents with Cerebral Palsy.

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The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation.