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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
Research
Seizures in Rett syndrome: an overview from a one-year calendar studyInformation on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
Research
Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Research
NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
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Children with disabilities 3 times more likely to be maltreated but risk varies by disability typeA new study has found children with disabilities are 3 times more likely to be maltreated compared to other children but that risk varies by type of disability.
Research
Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic ApproachIn this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders
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Epidemiology of gastrostomy insertion for children and adolescents with intellectual disabilityGastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers
Research
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophyThis study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives