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Showing results for "autism"

Research

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database

Research

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.

Research

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Cyclin-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.

Research

Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

Research

Family satisfaction following spinal fusion in Rett syndrome

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...

Research

Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their families

Helen Jenny Keely Leonard Downs Bebbington MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Head, Child Disability

Research

The correlation between central and peripheral oxytocin concentrations: A systematic review and meta-analysis

These results indicate a coordination of central and peripheral oxytocin release after stress and after intranasal administration

Research

Diabetes Stigma Predicts Higher HbA1c Levels in Australian Adolescents With Type 1 Diabetes

Adolescents with Type 1 diabetes (T1D) often need to undertake self-management tasks in public or disclose their diagnosis to others. Therefore, they may be subjected to negative reactions from the public, known as enacted stigma.

Functional capacity assessments

Functional capacity assessments help families and the NDIS ensure that children receive the right level of support, resources, and funding to achieve their goals.

Research

Low maternal serum vitamin D during pregnancy and the risk for postpartum depression symptoms

Pregnancy is a time of vulnerability for vitamin D insufficiency, and there is an emerging literature associating low levels of 25(OH)-vitamin D with...