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        721-730 of 1299 results for 'Autism'

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        Research

        Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

        CDKL5 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. ...

        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

        Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database

        CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.   ...

        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

        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

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

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        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

        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

        International CDKL5 Disorder Database

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

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