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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international datasetCharacterized 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.
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Exploring enablers and barriers to accessing health services after a fall among people with intellectual disabilityThere is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability
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Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeThis study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
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Prevalence, clinical investigation, and management of gallbladder disease in Rett syndromeThis study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
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Hospital admissions and gestational age at birth: 18 Years of follow up in Western AustraliaThis effect of gestational age on rehospitalisation for infants born preterm is highest in the first year post-discharge, but almost disappeared by adolescence
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Leisure participation for school-aged children with Down syndromeLeisure participation for school-aged children with Down syndrome.
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It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndromeThe purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome.
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Family Functioning in Families with a Child with Down syndrome: A Mixed Methods ApproachFamily Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach...
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The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: A population-based studyIt is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...
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The use of cross-jurisdictional population data to investigate health indicators of child maltreatmentTo investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children