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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. 

The relationship between pitch contours in infant-directed speech and early signs of autism in infancy

Mother-infant interactions during the first year of life are crucial to healthy infant development. The infant-directed speech (IDS), and specifically pitch contours, used by mothers during interactions are associated with infant language and social development.

The first six months of life: A systematic review of early markers associated with later autism

There 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.

Arriving at the empirically based conceptualization of restricted and repetitive behaviors: A systematic review and meta-analytic examination of factor analyses

An empirically based understanding of the factor structure of the restricted and repetitive behaviors (RRB) domain is a prerequisite for interpreting studies attempting to understand the correlates and mechanisms underpinning RRB and for measurement development. Therefore, this study aimed to conduct a systematic review and meta-analysis of RRB factor analytic studies.

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.

The Kids researchers awarded Raine Medical Research Foundation funding

Congratulations to Dr Gail Alvares and Dr Rachel Foong, who have been awarded funding from the Raine Medical Research Foundation.

Computer algorithm links facial masculinity to autism

A new study led by The Kids Research Institute Australia has found a link between masculine facial features and autism.

The Kids researcher among Top 5 Under 40

Congratulations to Gail Alvares from our Autism research team who has been named as one the ABC's Top 5 Under 40 scientists in residence.

Telethon Institute a key player in new national autism research

The Telethon Institute will play a key role in a ground breaking, multi-million dollar Autism research centre announced by Prime Minister Julia Gillard.

Huge hospital burden for kids with intellectual disabilities

New research from the Telethon Institute has shown that children with an intellectual disability are up to 10x more likely to be admitted to hospital.