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Showing results for "autism"

Research

Rare childhood diseases: how should we respond?

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...

Research

Seizures in Rett syndrome: an overview from a one-year calendar study

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

Research

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Research

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Research

Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. 

Research

Predictors of Change in Wellbeing and Mental Health of Parents of Autistic Pre-Schoolers

Parenting is a rewarding experience but is not without its challenges. Parents of Autistic children face additional challenges, and as a result can experience lower levels of wellbeing and more mental health problems (i.e., depression, anxiety, stress). Previous studies have identified concurrent correlates of wellbeing and mental health.

Research

TALK (Testosterone and Language in Kids) Study

Andrew Chris Gail Susan Peter Videos Whitehouse Watch and listen to Andrew Brennan-Jones Alvares Prescott Jacoby PhD PhD PhD MBBS BMedSci PhD FRACP

Research

Developmental Coordination Disorder

Developmental Coordination Disorder is a lifelong disability impacting most aspects of daily living that involve movement. With an estimated prevalence of ~5% of children, the disorder affects an average of one to two children in every Australian classroom.

People

Keely Bebbington

McCusker Postdoctoral Research Fellow in Type 1 Diabetes

Research

Free testosterone levels in umbilical-cord blood predict infant head circumference in females

Fetal androgens influence fetal growth as well as postnatal neurocognitive ability