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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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Community perspectives on the appropriateness and importance of support goals for young autistic childrenResearchers do not know much about what autistic adults, parents and professionals think about support goals for young autistic children. People's views of support goals might also be influenced by their beliefs about early support more generally. This survey involved 87 autistic adults, 159 parents of autistic children and 80 clinical professionals living in New Zealand and Australia.
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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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MACROD2 gene associated with autistic-like traits in a general population sampleThe MACROD2 gene is a strong positional candidate risk factor for autistic-like traits in the general population
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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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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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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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Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approachThe identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways.
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Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorderThis study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestones.
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Acoustic Properties of Cries in 12-Month Old Infants at High-Risk of Autism Spectrum DisorderThere is preliminary evidence that infant siblings of children with Autism Spectrum Disorder have an atypical pattern of crying