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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
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The first six months of life: A systematic review of early markers associated with later autismThere is now good evidence that behavioural signs of autism spectrum conditions (autism) emerge over the first two years of life. Identifying clear developmental differences early in life may facilitate earlier identification and intervention that can promote longer-term quality of life. Here we present a systematic review of studies investigating behavioural markers of later autism diagnosis or symptomology taken at 0-6 months.
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Multigenerational Familial and Environmental Risk for Autism (MINERvA) NetworkThe MINERvA Network will allow more accurate and precise determination of the contributions of familial and environmental factors to the etiology of autism.
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Asperger'sAsperger's, also known as Asperger syndrome (AS), is a type of autism spectrum disorder that affects social skills, social interaction and nonverbal communication.
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Is the broad autism phenotype in mothers of children with autism spectrum disorder exacerbated by the challenges of caring for their children?This qualitative study of parental interviews provided a preliminary examination of whether behaviours consistent with the BAP may have been exacerbated by...
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Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual DisabilityMothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.
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Brief Report: Further Evidence for a Link Between Inner Speech Limitations and Executive Function in High-Functioning Children with AutismThis study investigated the involvement of inner speech limitations in the executive dysfunction associated with autism spectrum disorders (ASDs).
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Complementary and alternative medicine for autism spectrum disorders: Rationale, safety and efficacyThere is insufficient evidence to draw conclusions on the efficacy of modified diets, hyperbaric oxygen therapy, immune therapy, and vitamin and fatty acid...
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No association between early gastrointestinal problems and autistic-like traits in the general populationNo association between early gastrointestinal problems and autistic-like traits in the general population, determine whether gastrointestinal problems, early...
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Prenatal maternal stress associated with ADHD and autistic traits in early childhoodResearch suggests that offspring of mothers who experience high levels of stress during pregnancy are more likely to have problems in neurobehavioral...