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Research

Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

Research

THINK BIG - Neurodevelopmental Disorders

Amy Andrew Helen Jenny Martyn Melissa Videos Finlay-Jones Whitehouse Watch and listen to Andrew Leonard Downs Symons Licari BPsych(Hons), MPsych(

Research

Autism and Attention-Deficit/Hyperactivity Disorder Content in Highly Viewed TikTok Videos

Social media allows users to connect with others’ experiences and points of view, with TikTok being the fastest-growing platform worldwide. Highly viewed videos related to neurodiversity on TikTok have an increasing role in understanding and acceptance of neurodivergent individuals.

Research

Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability

The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional properties, test-retest reliability, and convergent validity of the EQ-5D-Y-5L in children with intellectual disability (ID). 

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Addressing challenges in gaining informed consent for a research study investigating falls in people with intellectual disability

This study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study

Research

Risk of stillbirth, preterm delivery, and fetal growth restriction following exposure in a previous birth: Systematic review and meta-analysis

Nonrecurrent risk of stillbirth, Preterm birth, and small for gestational age after exposure to one or more of these complications in a previous pregnancy

Research

The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

Research

Physical and mental health of mothers caring for a child with Rett syndrome

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Research

The Promise of Electroencephalography for Advancing Diagnosis and Treatment in Neurodevelopmental Disorders

Neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder, and intellectual disability (ID), commonly emerge during early development and impact functioning across cognitive, social-emotional, communication, and sensorimotor domains.

Research

Expanding the clinical picture of the MECP2 Duplication syndrome

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.