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Showing results for "rett"

Research

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review protocol.

Our objective is to synthesize the best available evidence to determine the incidence and prevalence of falls in intellectually disabled adults in the community

Research

A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders

Explored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement

Research

Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability

Mothers of children with autism spectrum disorder or intellectual disability have higher rates of treatment episodes for psychiatric disorders

Research

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

Research

The Sibling Project

The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.

Research

Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome

Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep.

Research

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.

Research

Quality of life beyond diagnosis in intellectual disability – Latent profiling

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.

Research

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period

Database a crucial tool helping to fill the CDKL5 information void

The Kids Research Institute Australia disability researcher, Associate Professor Helen Leonard, played an important role in the identification of the differences that define CDD, thanks to her extensive experience researching Rett syndrome and running an Australian online database tracking Rett cases.