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Research

Fetal androgen exposure and pragmatic language ability of girls in middle childhood

Prenatal exposure to testosterone has been shown to affect fetal brain maturation as well as postnatal cognition and behavior in animal studies.

Research

Maternal Vitamin D Levels and the Autism Phenotype Among Offspring

We tested whether maternal vitamin D insufficiency during pregnancy is related to the autism phenotype.

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Caregiver broader autism phenotype does not moderate the effect of early caregiver-mediated support on infant language outcomes

Caregiver-mediated supports in general have shown mixed evidence for enhancing language outcomes in infants at higher likelihood of autism. While caregivers play a substantial role in caregiver-mediated supports, little is known about whether caregivers' own subclinical autistic features - known as broader autism phenotype - may moderate infant language outcomes. 

Research

Characterizing the Nature of Alexithymia in Autistic Adults: Validation of the Perth Alexithymia Questionnaire

Alexithymia—a trait characterized by difficulties in emotion processing—is of high interest in the autism field. However, the lack of validated alexithymia measures for autistic individuals limits progress. This study aimed to address this gap by examining the psychometric properties of the Perth Alexithymia Questionnaire (PAQ) across autistic and non-autistic samples. Using the PAQ, we investigated how alexithymia manifests in autistic individuals and its links with poor mental health outcomes (anxiety).

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. 

Research

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.

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Repetitive transcranial magnetic stimulation (rTMS) in autism spectrum disorder: Protocol for a multicentre randomised controlled clinical trial

There are no well-established biomedical treatments for the core symptoms of autism spectrum disorder (ASD). A small number of studies suggest that repetitive transcranial magnetic stimulation (rTMS), a non-invasive brain stimulation technique, may improve clinical and cognitive outcomes in ASD.

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Caregiver Psychological Distress Predicts Temperament and Social-Emotional Outcomes in Infants with Autism Traits

Child temperament and caregiver psychological distress have been independently associated with social-emotional difficulties among individuals with autism. However, the interrelationship among these risk factors has rarely been investigated.

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The associations between autistic and communication traits in parents and developmental outcomes in children at familial risk of autism at 6 and 24 months of age

Several studies have explored relationships between parent broader autism phenotype and offspring communication, and have reported that autistic-like traits in parents are related to offspring communication difficulties and autism severity. However, past research has focused on studying such associations in childhood and we know very little about them in infancy. With accumulating evidence that interventions administered during infancy may be most effective in reducing ASD symptoms, it is imperative to examine whether relationships between parent autistic-like traits and child communication appear even earlier during this critical period of life.

Research

An investigation of adherence to best practice guidelines for autism diagnosis in New Zealand

Many clinicians in New Zealand do not follow guidelines for best practice in autism diagnosis. In this study, we investigated the processes that health professionals in New Zealand follow when diagnosing autistic children and adults. We asked 117 health professionals from a range of services and regions in New Zealand, how they identify and diagnose autism.