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Research

Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.

Research

Estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.

Research

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.

Research

To test the efficacy of Hand Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) to improve gross motor function, manual ability, goal performance, walking endurance, mobility, and self-care for children with bilateral cerebral palsy. 

Research

With increasing demands for health, disability and education services, innovative approaches can help distribute limited resources according to need. Despite an increased focus on support needs within the clinical pathway and policy landscape, the body of research knowledge on this topic is at a relatively early stage. However, there appears to be a sense of unmet support needs and dissatisfaction with the provision of required support following an autism diagnosis amongst caregivers of young people on the spectrum.

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

Research

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.

Research

The developmental origins of handedness remain elusive, though very early emergence suggests individual differences manifesting in utero could play an important role. Prenatal testosterone and Vitamin D exposure are considered, yet findings and interpretations remain equivocal.

Research

Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines.

Research

A better understanding of the endocannabinoid system and a relaxation in regulatory control of cannabis globally has increased interest in the medicinal use of cannabinoid-based products (CBP). We provide a systematic review of the rationale and current clinical trial evidence for CBP in the treatment of neuropsychiatric and neurodevelopmental disorders in children and adolescents.