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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

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...

Research

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

Research

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

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

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

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%

Research

Birth seasonality and risk of autism spectrum disorder

In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden

Research

EEG power at 3 months in infants at high familial risk for autism

Reduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.