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Research

Overview of health issues in school-aged children with Down Syndrome

Overview of Health Issues in School-aged Children with Down Syndrome

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InterRett, a model for international data collection in a rare genetic disorder

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...

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Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

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Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

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Rett syndrome in Australia: a review of the epidemiology

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

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Pain coping tools for children and young adults with a neurodevelopmental disability: A systematic review of measurement properties

To systematically identify and evaluate the measurement properties of patient-reported outcome measures (PROMs) and observer-reported outcome measures (parent proxy report) of pain coping tools that have been used with children and young adults (aged 0–24 years) with a neurodevelopmental disability.

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Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.

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Systematic Review and Meta-analysis: Mental Health in Children

The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents

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Modifiable child and caregiver factors that influence community participation among children with Down syndrome

To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.