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Research

A call for global action for rare diseases in Africa

The outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health

Research

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers

Research

Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic Approach

In this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders

Research

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives

Research

Challenges in Accurately Assessing Prenatal Alcohol Exposure in a Study of Fetal Alcohol Spectrum Disorder in a Youth Detention Center

Accurately assessing prenatal alcohol consumption is exceptionally challenging when assessed retrospectively as part of a FASD assessment for a young person sentenced to detention

Research

Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling

Research

Research priorities for childhood chronic conditions: a workshop report

Research priorities emphasise a focus on life participation, psychosocial well-being, impact on family and quality of care

Research

Emerging diabetes and metabolic conditions among Aboriginal and Torres Strait Islander young people

Collaboration between clinicians and researchers is required to establish the prevalence and disease burden of type 2 diabetes among Indigenous young people

Research

Allergy alerts — The incidence of parentally reported allergies in children presenting for general anesthesia

Only the minority of parent-reported allergies in pediatric surgical patients were specialist confirmed and likely to be clinically relevant