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Showing results for "autism"
Research
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2Rett 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
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical ReviewClinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience
Research
Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage StudyWe 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).
News & Events
Professor Andrew Whitehouse on ABC720Autism researcher Professor Andrew Whitehouse was on 720 ABC Perth yesterday taking questions on child health.
Research
Rett Syndrome: Revised diagnostic criteria and nomenclatureThe purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
Research
Feeding experiences and growth status in a Rett syndrome populationFeeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...
Research
Correlation between clinical severity in patients with Rett syndromeRett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.
Research
Dimensional Assessment of Restricted and Repetitive Behaviors: Development and Preliminary Validation of a New MeasureThis study aimed to provide initial validation of the Dimensional Assessment of Restricted and Repetitive Behaviors (DARB), a new parent-report measure designed to capture the full range of key restricted and repetitive behaviors (RRB) subdomains.
Research
Experiences of Parents of Specialist Peer Mentored Autistic University StudentsParents continue to support to autistic university students, and consequently, experience considerable stress. The aim was to explore the experiences of parents of specialist peer mentored university students and to examine these using the ICF as a theoretical framework.