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Showing results for "autism"
Research
Reduced heart rate variability in a treatment-seeking early psychosis sampleFindings provide preliminary evidence that early psychosis is associated with reduced heart rate variability
Research
International CDKL5 Disorder DatabaseHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
Research
A qualitative investigation of recovery after femoral fracture in Rett syndromeThis study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.
Research
Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency DisorderOur study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
Research
What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analysesThere remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome
Research
Functional abilities in children and adults with the CDKL5 disorderAlthough abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities
News & Events
Understanding anxiety around uncertaintyIn this blog, research project co-ordinator Rebecca Kuzminski discusses anxiety related to uncertainty, why this is a particular challenge for many autistic children, and new research CliniKids is conducting to help parents support their child with managing uncertainty-related anxiety.
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
Respiratory morbidity in Rett syndrome: An observational studyRett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization