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"Capturing the magic": identifying the active ingredients of a physical activity participation intervention for children and youth with disabilities

This study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities.

Modifiable child and caregiver factors that influence community participation among children with Down syndrome

To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.

Child protection involvement of children of mothers with intellectual disability

Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.

Gastrostomy feeding in children with severe cerebral palsy in Western Australia

Citation: Marpole R, Langdon K, Wilson A. Gastrostomy feeding in children with severe cerebral palsy in Western Australia. Acta Paediatr Int J

Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.

Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coin

Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described.

Childhood Systemic Lupus Erythematosus: Presentation, management and long-term outcomes in an Australian cohort

Systemic Lupus Erythematosus (SLE) is a serious autoimmune disease often resulting in major end-organ damage and increased mortality. Currently, no data exists focussing on the presentation, long-term management and progression of SLE in the Australian paediatric population.

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database

CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.