Search
Showing results for "rett"
Research
Growth patterns in individuals with CDKL5 deficiency disorderAim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.
Research
Charting developmental trajectories from 12 to 36 months and associated early risk and protective factorsTo investigate developmental trajectories in early childhood and predictors of class assignment.
Research
Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage EvaluationIncreased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups
Research
The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future ResearchWe investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds.
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
Research
Rare childhood diseases: how should we respond?Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...
Research
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
The Kids Research Institute Australia disability researcher, Associate Professor Helen Leonard, played an important role in the identification of the differences that define CDD, thanks to her extensive experience researching Rett syndrome and running an Australian online database tracking Rett cases.
Research
Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
Research
Can Wearable Inertial Measurement Units Be Used to Measure Sleep Biomechanics? Establishing Initial Feasibility and ValidityWearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics.