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Showing results for "autism"

Research

Predictors of scoliosis in Rett syndrome

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.

Research

The perspectives of autistic adolescents and their parents on sleep strategies for insomnia

Autistic adolescents are vulnerable to sleep difficulties, with up to 80 % experiencing sleep problems, most commonly insomnia. Little is known about how autistic adolescents are involved in their own sleep treatment, and their depth of knowledge about their sleep difficulties. The aims of this study were to investigate autistic adolescent and parent perspectives of experiencing and managing insomnia, and what factors influence the development of these perspectives on insomnia and treatment. 

Research

Clinical and biological progress over 50 years in Rett syndrome

Review of the clinical and biological progress over 50 years in Rett Syndrome

Research

Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.

Research

Finding the optimal regimen for Mycobacteroides abscessus treatment (FORMaT) in people with Mycobacteroides abscessus pulmonary disease

Mycobacteroides abscessus (MABS) is within the non-tuberculous mycobacteria family. It inhabits soil and water, exhibits multi-antibiotic resistance and causes opportunistic lung infections, which may progress to symptomatic MABS-pulmonary disease (MABS-PD) associated with substantial morbidity, increased healthcare utilisation, impaired quality of life and increased mortality. 

Research

Re-analysis of the association between perinatal androgens and postnatal head circumference growth

This paper is a correction of an earlier report that identified a link between exposure to high levels of testosterone during pregnancy and reduced head...

Research

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

Research

Free testosterone levels in umbilical cord blood predict infant head circumference in girls

Fetal androgens influence fetal growth as well as postnatal neurocognitive ability.

Research

Development of a video-based evaluation tool in Rett syndrome

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).