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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
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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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Commentary: Are we expecting too much from the extreme male brain theory of autism? A reflection on Kung et al. (2016)This commentary highlights inconsistent findings that undermine the extreme male brain theory autism but data may not present an adequate test of the hypothesis
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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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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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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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Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traitsAutism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population.
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Caregiver Psychological Distress Predicts Temperament and Social-Emotional Outcomes in Infants with Autism TraitsChild temperament and caregiver psychological distress have been independently associated with social-emotional difficulties among individuals with autism. However, the interrelationship among these risk factors has rarely been investigated.
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Australian Clinicians’ Considerations When Choosing an Assessment of Functioning Tool for Children with Neurodevelopmental ConditionsIn the Australian disability context, the assessment of children with neurodevelopmental conditions’ functioning (across all domains) is of increasing importance, particularly since the introduction of the National Disability Insurance Scheme. Currently, there is wide variability across assessment of functioning practices, including the choice and use of published tools for assessment.