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Dental care experiences and clinical phenotypes in children on the autism spectrum

Children diagnosed with autism spectrum disorder may be at higher likelihood of experiencing poorer oral health and difficulties accessing dental health care. However, identifying which children on the autism spectrum may be more vulnerable to experiencing dental care difficulties is still unknown.

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. 

Parent-observed thematic data on quality of life in children with autism spectrum disorder

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder

Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort

Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%

Increased facial asymmetry in autism spectrum conditions is associated with symptom presentation

Significantly greater depth-wise facial asymmetry was identified in autistic children relative to the two comparison groups

Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex

Infants with Tuberous sclerosis complex demonstrated reduced interhemispheric alpha phase coherence compared to controls at 12 months of age

Chance to showcase WA expertise on the international stage thanks to Aspire Awards

Two of The Kids Research Institute Australia’s best and brightest will share in $10,000 of funding to use for investment in their professional growth through attendance at an international conference, when safe to do so.

Do Children with Specific Language Impairment have a Cognitive Profile Reminiscent of Autism? A Review of the Literature

This paper reviews relevant literature on whether individuals with SLI exhibit cognitive characteristics reminiscent of autism.

Validation of a novel theory of mind measurement tool: The social robot video task

Social communication difficulties in autism spectrum disorder have been associated with poor Theory of Mind (ToM), an ability to attribute mental states to others. Interventions using humanoid robots could improve ToM that may generalize to human-human interactions. Traditionally, ToM has been measured using the Firth-Happe Animations (FHA) task which depicts interactions between two animated triangles.

Relationship Between Social Motivation in Children With Autism Spectrum Disorder and Their Parents

Impairment in social motivation (SM) has been suggested as a key mechanism underlying social communication deficits observed in autism spectrum disorder (ASD). However, the factors accounting for variability in SM remain poorly described and understood. The current study aimed to characterize the relationship between parental and proband SM. Data from 2,759 children with ASD and their parents from the Simons Simplex Collection (SSC) project was included in this study.