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Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure. 

Children with neurodevelopmental disorders often experience difficulties in acquiring and executing movement skills. Although the motor profiles of neurodivergent children frequently overlap, rigid conceptual distinctions between diagnostic labels have been imposed by traditional categorical approaches to taxonomy. An alternative transdiagnostic approach is proposed to better represent the similarities between presentations.

Evidence suggests that the earlier supports are provided to young Autistic children, the better the overall outcomes. Supports have typically only been available after an autism diagnosis but with increased knowledge about early developmental trajectories, clinical supports can now be offered prediagnosis for infants showing early autism features and/or those with a family history of autism. 

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies.

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.

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

Childcare centres will be invited to help boost children’s physical activity levels by signing on to a new program which commits them to creating more opportunities for physical activity.

Citation: Yap M, Weston S, McKinnon E, Sadler G. Rural Exposure and Future Intent of Australian Dermatology Trainees. Australas J Dermatol. 2025.

The Kids successfully pushed for the mandatory fortification of flour in Aus with the vitamin folic acid for the primary prevention of neural tube defects

To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.