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Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
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Hospital admissions in children with developmental disabilities from ethnic minority backgroundsChildren with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life
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Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability ResearchBuilding data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research
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A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorderThis study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
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Apgar score and risk of autismThis study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder
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An investigation of the determinants of quality of life in adolescents and young adults with Down syndromeQuality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships
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Parent-reported health-related quality of life of children with Down syndrome: A descriptive studyTo describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.
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CDKL5 variants: Improving our understanding of a rare neurologic disorderProviding new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
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Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndromeChanges in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood
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Health care utilization and costs for children and adults with duchenne muscular dystrophyAnnual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood