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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. 

Investigating the impact of autistic children's feeding difficulties on caregivers

The aim of this study was to investigate the influence of children's autism characteristics, sensory profiles and feeding difficulties on caregiver-reported impact at mealtimes.

Predictors of Change in Wellbeing and Mental Health of Parents of Autistic Pre-Schoolers

Parenting is a rewarding experience but is not without its challenges. Parents of Autistic children face additional challenges, and as a result can experience lower levels of wellbeing and more mental health problems (i.e., depression, anxiety, stress). Previous studies have identified concurrent correlates of wellbeing and mental health.

Narrowing the broader autism phenotype: A study using the Communication Checklist

This study investigated whether the Communication Checklist - Adult (CC-A) could identify subtypes of social and communication dysfunction in autism probands an

Randomised controlled trial of an iPad based early intervention for autism: TOBY playpad study protocol

This trial will determine the effectiveness of the TOBY App as a therapeutic complement to other early interventions children with ASD receive

Obesity and associated factors in youth with an autism spectrum disorder

Prevalence of overweight/obesity in children and youth with autism spectrum disorder, and associations between weight status and range of factors

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

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

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