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Showing results for "autism"

Research

Hospital admissions in children with developmental disabilities from ethnic minority backgrounds

Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life

Research

A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder

This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder

Research

Parent-reported health-related quality of life of children with Down syndrome: A descriptive study

To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.

Research

CDKL5 variants: Improving our understanding of a rare neurologic disorder

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.

Research

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.

Research

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Research

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.

Research

Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder

Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.

Research

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.

Research

Growth patterns in individuals with CDKL5 deficiency disorder

Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.