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Research

Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

Research

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

Research

The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Research

Oral health experiences of individuals with Rett syndrome: A retrospective study

Social advantage may provide some protection for dental health in individuals with Rett syndrome

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Intraoperative neurophysiology monitoring in scoliosis surgery in children

Our study adds to the literature supporting the role of intraoperative neurophysiology monitoring in scoliosis surgery in children

Research

Parent-observed thematic data on quality of life in children with autism spectrum disorder

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder

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Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear

Research

Early motor function of children with autism spectrum disorder: A systematic review

Early motor impairments have been reported in children with neurodevelopmental disorders (NDD), but it is not clear if early detection of motor impairments can identify children at risk for NDD or how early such impairments might be detected. Our aim was to characterize early motor function in children later diagnosed with NDD relative to typically developing children or normative data.

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Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome

Research

Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort

Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%