Skip to content

Search

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.

Hospital admissions and gestational age at birth: 18 Years of follow up in Western Australia

This effect of gestational age on rehospitalisation for infants born preterm is highest in the first year post-discharge, but almost disappeared by adolescence

Comparison of home ambulatory type 2 polysomnography with a portable monitoring device and in-laboratory type 1 polysomnography for the diagnosis of obstructive sleep apnea in children

To compare type 2 polysomnography (T2PSG) to the gold standard type 1 in-laboratory polysomnography (T1PSG) for diagnosing obstructive sleep apnea (OSA) in children; validate home T2PSG in children with suspected OSA.

Child protection involvement of children of mothers with intellectual disability

Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.

The Role of Sleep in the Relationship Between ADHD Symptoms and Stop Signal Task Performance

ADHD commonly occurs with sleep problems and secondary cognitive impairments such as inhibitory control. Sleep problems may explain attentional lapses and inhibition performance variability in children with ADHD. This study applied Bayesian analyses to examine the relationship between ADHD symptoms, sleep problems, and inhibition.

Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up.

Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome

People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities.

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).