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Showing results for "autism"

Research

Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome Database

Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal

Research

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

Research

Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study

We aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors).

Research

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience

Research

Development of a video-based evaluation tool in Rett syndrome

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

Research

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.

Research

Working towards a shared framework in the diagnosis of neurodevelopmental disorders in Australia: A Gap Analysis

Amy Andrew Carol Jacinta Videos Finlay-Jones Whitehouse Watch and listen to Andrew Bower Freeman BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (

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

Adolescent peer aggression and its association with mental health and substance use in an Australian cohort

Prospective longitudinal birth cohort data was used to examine the association between peer aggression at 14yrs and mental health and substance use at 17yrs...

Research

Late-talking and risk for behavioral and emotional problems during childhood and adolescence

Although many toddlers with expressive vocabulary delay ("late talkers") present with age-appropriate language skills by the time they are of school age,...