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Impact of biobanks on research outcomes in rare diseases: a systematic review

This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks

Effect of an exercise intervention (Move2Engage: Youth) on activity levels, quality of sleep and mental health outcomes in children and youth with movement difficulties

Melissa Andrew Gail Jenny Videos Licari Whitehouse Watch and listen to Andrew Alvares Downs PhD PhD PhD BApplSci (physio) MSc PhD Senior Research

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Differences in serum zinc levels in acutely ill and remitted adolescents and young adults with bulimia nervosa in comparison with healthy controls – a cross-sectional pilot study

Research has implicated that changes in Zn metabolism may be associated with the biological underpinnings of eating disorders, in particular anorexia nervosa.

A Genome-wide Association Meta-analysis of Preschool Internalizing Problems

In this study, the influence of genome-wide measured single nucleotide polymorphisms (SNPs) was investigated in 3 cohorts (total N = 4,596 children) in which...

Brief Report: Further Evidence for a Link Between Inner Speech Limitations and Executive Function in High-Functioning Children with Autism

This study investigated the involvement of inner speech limitations in the executive dysfunction associated with autism spectrum disorders (ASDs).

Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

Reactive aggression in young patients with ADHD—a critical role for small provocations

ADHD is one of the most commonly diagnosed disorders in child and adolescent psychiatry and is characterized by attentional deficits, hyperactivity, and impulsivity

Review of Aboriginal child health services in remote Western Australia identifies challenges and informs solution

We aimed to identify and map child health services in the very remote Fitzroy Valley, West Kimberley, and document barriers to effective service delivery

Sleep profiles in individuals with rare neurogenetic syndromes

To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles.