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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

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Level of purposeful hand function as a marker of clinical severity in Rett syndrome

We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome

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Efficacy of Health Literacy Interventions for Caregivers of Individuals with Neurodevelopmental and Chronic Conditions: A Rapid Review

Caregivers of individuals with neurodevelopmental and chronic health conditions require health literacy (HL) skills for the long-term management of these conditions. The aim of this rapid review was to investigate the efficacy of HL interventions for these caregivers.

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Eating and drinking abilities and respiratory and oral health in children and young adults with cerebral palsy

To investigate the potential risk factors of respiratory illness (ethnicity, oral health, and eating and drinking ability) in children and young adults with cerebral palsy.

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Improving the Journey Before, During and After Diagnosis of a Neurodevelopmental Condition: Suggestions from a Sample of Australian Consumers and Professionals

The current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved.

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Characterising quality of life and its determinants for children with intellectual disability and their families

Andrew Helen Jenny Peter Videos Whitehouse Watch and listen to Andrew Leonard Downs Jacoby PhD MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc

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Facilitators, barriers, and strategies for supporting shared decision-making with people with intellectual disability: A West Australian primary healthcare professional perspective

Shared decision-making between patients and primary healthcare professionals positively impacts health outcomes. However, people with intellectual disability face additional barriers and require supported shared decision-making (SSDM) to participate. Little is known about how healthcare professionals use SSDM with this population. This paper explores the facilitators and barriers experienced, and strategies/resources employed by healthcare professionals working with people with intellectual disability.

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Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal age

This study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.

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Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population study

Assisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.

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The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated

For individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.