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Showing results for "autism"
Research
Dimensional Assessment of Restricted and Repetitive Behaviors: Development and Preliminary Validation of a New MeasureThis study aimed to provide initial validation of the Dimensional Assessment of Restricted and Repetitive Behaviors (DARB), a new parent-report measure designed to capture the full range of key restricted and repetitive behaviors (RRB) subdomains.
Learn more about the TOTS Study at CliniKids
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Neurodivergence, intersectionality, and eating disorders: a lived experience-led narrative reviewAutistic people and those with attention deficit hyperactivity disorder are at a high risk of developing an eating disorder. While there is limited evidence on the relationship between other forms of neurodivergence and eating disorders, research suggests associations between giftedness, intellectual disability, obsessive-compulsive disorder, psychosis, Tourette's syndrome, and disordered eating.
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Community participation: Conversations with parent-Carers of young women with Rett syndromeIn this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
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Rare childhood diseases: how should we respond?Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...
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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...
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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...
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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).