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Showing results for "autism"
Research
Quantitative and qualitative insights into the experiences of children with Rett syndrome and their familiesEarly presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
Research
How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework
Research
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...
Research
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.
Research
Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndromeHigh levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome
Research
Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency DisorderCDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.
News & Events
The Kids researcher among Top 5 Under 40Congratulations to Gail Alvares from our Autism research team who has been named as one the ABC's Top 5 Under 40 scientists in residence.
People
Associate Professor Yasmin Harman-SmithHead, Early Years Systems Evidence; Head, Tenders Support Unit
Research
Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndromeWe aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristitics.
News & Events
Service availabilityAre you tired of being on waitlists to access supports for your family? CliniKids has immediate availability for a number of therapies and programs in clinic (Subiaco and Joondalup) or via telehealth.