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Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetranceOur findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling
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Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approachThis paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...
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A prospective ultrasound study of prenatal growth in infant siblings of children with autismNumerous studies have observed that a proportion of infants later diagnosed with autism spectrum disorder (ASD) experience accelerated head growth...
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Investigating Parental Observations of Early Autism Development in Simplex and Multiplex FamiliesPast research has highlighted the importance of early identification of developmental differences to improve targeted access to early interventions or supports. As such, it is of particular importance in the context of children at elevated likelihood of autism (such as where an older sibling has a diagnosis of autism), to better understand when and which early concerns are important as predictors of which children will benefit from pre-diagnostic supports.
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Empathy and Autism: Establishing the Structure and Different Manifestations of Empathy in Autistic Individuals Using the Perth Empathy ScaleThere is a common mischaracterisation that autistic individuals have reduced or absent empathy. Measurement issues may have influenced existing findings on the relationships between autism and empathy, and the structure of the empathy construct in autism remains unclear.
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Parent-reported Areas of Greatest Challenge for their ADHD and/or Autistic ChildrenThis study aimed to understand how parents describe the most challenging behaviors exhibited by their children diagnosed with autism and/or ADHD, how those behaviours impact their family, and whether challenges are directly related to the core characteristics of these conditions.
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Use of Neuroimaging to Predict Adverse Developmental Outcomes in High-Risk InfantsWith advances in perinatal care, we have achieved major reductions in mortality in premature and critically ill infants, but they still remain at increased risk of neurodevelopmental disability. In this context, recent advances in neuroimaging are perceived as an addition of significant value to current clinical developmental screening programs.
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Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilitiesReading Disability is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies.
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The effect of oxytocin nasal spray on social interaction in young children with autism: a randomized clinical trialEarly supports to enhance social development in children with autism are widely promoted. While oxytocin has a crucial role in mammalian social development, its potential role as a medication to enhance social development in humans remains unclear.
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Occurrence of psychosis and bipolar disorder in adults with autism: A systematic review and meta-analysisEvidence suggests that individuals with autism spectrum disorder have increased rates of co-occurring psychosis and/or bipolar disorder. Considering the peak age of onset for psychosis and bipolar disorder occurs in adulthood, we investigated the co-occurrence of these disorders in adults with autism.