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Research

Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorder

This study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestones.

Research

Evidence of a reduction over time in the behavioral severity of autistic disorder diagnoses

This study provides the first clear evidence of a reduction over time in the behavioral severity of individuals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria

Research

Reduced goal-directed action control in autism spectrum disorder

Investigate whether impairments in the ability to execute flexible goal-directed actions may be an underlying feature in ASD contributing to these symptoms

Research

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

Research

Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring

This study adds to existing evidence that the rate of pre-existing psychiatric disorders in mothers of children with autism spectrum disorder is higher than...

Research

The association between autism and schizophrenia spectrum disorders: A review of eight alternate models of co-occurrence

Understanding how and why these disorders co-occur has important implications for diagnosis, treatment, and prognosis, as well as for developing fundamental...

Research

MACROD2 gene associated with autistic-like traits in a general population sample

The MACROD2 gene is a strong positional candidate risk factor for autistic-like traits in the general population

Research

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An 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.