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Showing results for "rett"

Research

Does gastrostomy improve the lives of children with severe disability and their families?

Approximately 13,000 children in Australia live with moderate to severe intellectual disability.

Research

Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?

An estimated half of all children with cerebral palsy also have comorbid intellectual disability, the domains of QOL for these children are not well understood

Research

Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder

The CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.

Research

Content Validation of the Communication Inventory Disability–Observer Reported CID-OR

CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported was developed from a framework of communication derived from parent/caregiver interview data in consultation with disability and communication experts, and after reviewing concepts in existing measures.

Research

The Brain Basis of Comorbidity in Neurodevelopmental Disorders

This review discusses early brain development and the etiological factors that may give rise to atypical developmental trajectories, along with neuroimaging insights

Research

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.

Research

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

Research

Survival of children and adolescents with intellectual disability following gastrostomy insertion

Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time

Research

Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability

Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI