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Showing results for "autism"
Research
Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorderCyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.
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Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.
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Family satisfaction following spinal fusion in Rett syndromeFamilies participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
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Validating the rett syndrome gross motor scaleThe Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
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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.
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Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersThis study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
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Linking MECP2 and pain sensitivity: the example of Rett syndromeThis study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
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Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian databaseStereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.
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Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency DisorderHelen Jenny Peter Leonard Downs Jacoby MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Head, Child Disability
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Low maternal serum vitamin D during pregnancy and the risk for postpartum depression symptomsPregnancy is a time of vulnerability for vitamin D insufficiency, and there is an emerging literature associating low levels of 25(OH)-vitamin D with...