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Research

Profiles of circumscribed interests in autistic youth

Circumscribed interests encompass a range of different interests and related behaviors that can be characterized by either a high intensity but otherwise usual topic [referred to as restricted interests] or by a focus on topics that are not salient outside of autism [referred to as unusual interests].

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Characterizing restricted and unusual interests in autistic youth

A broad range of interests characterized by unusual content and/or intensity, labeled as circumscribed interests are a core diagnostic feature of autism. Recent evidence suggests that a distinction can be drawn between interests that, although characterized by unusually high intensity and/or inflexibility, are otherwise common in terms of their content (e.g., an interest in movies or animals), labeled as restricted interests and interests that are generally not salient outside of autism (e.g., an interest in traffic lights or categorization), labeled as unusual interests.

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Identification of subgroups of children in the Australian Autism Biobank using latent class analysis

The identification of reproducible subtypes within autistic populations is a priority research area in the context of neurodevelopment, to pave the way for identification of biomarkers and targeted treatment recommendations. Few previous studies have considered medical comorbidity alongside behavioural, cognitive, and psychiatric data in subgrouping analyses.

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Community Priorities for Outcomes Targeted During Professional Supports for Autistic Children and their Families

Professional supports play an important role in aiding autistic children's learning, participation, and overall wellbeing. Yet, limited research exists on stakeholders' perspectives and preferences regarding targeted outcomes for children undergoing support facilitated by professionals.

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Investigating Parental Observations of Early Autism Development in Simplex and Multiplex Families

Past research has highlighted the importance of early identification of developmental differences to improve targeted access to early interventions or supports. As such, it is of particular importance in the context of children at elevated likelihood of autism (such as where an older sibling has a diagnosis of autism), to better understand when and which early concerns are important as predictors of which children will benefit from pre-diagnostic supports.

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Genome-Wide Analyses of Vocabulary Size in Infancy and Toddlerhood: Associations With Attention-Deficit/Hyperactivity Disorder, Literacy, and Cognition-Related Traits

The number of words children produce (expressive vocabulary) and understand (receptive vocabulary) changes rapidly during early development, partially due to genetic factors. Here, we performed a meta-genome-wide association study of vocabulary acquisition and investigated polygenic overlap with literacy, cognition, developmental phenotypes, and neurodevelopmental conditions, including attention-deficit/hyperactivity disorder. 

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Investigating the impact of developmental coordination difficulties across home, school, and community settings: Findings from the Australian Impact for DCD survey

To evaluate the participation difficulties experienced by children with developmental coordination disorder in home, school, and community environments.  

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Feasibility of a 2-minute eye-tracking protocol to support the early identification of autism

We tested the potential for Gazefinder eye-tracking to support early autism identification, including feasible use with infants, and preliminary concurrent validity of trial-level gaze data against clinical assessment scores. We embedded the ~ 2-min 'Scene 1S4' protocol within a comprehensive clinical assessment for 54 consecutively-referred, clinically-indicated infants (prematurity-corrected age 9-14 months).

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Use of Neuroimaging to Predict Adverse Developmental Outcomes in High-Risk Infants

With advances in perinatal care, we have achieved major reductions in mortality in premature and critically ill infants, but they still remain at increased risk of neurodevelopmental disability. In this context, recent advances in neuroimaging are perceived as an addition of significant value to current clinical developmental screening programs.

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Sertraline for anxiety in adults with a diagnosis of autism (STRATA): study protocol for a pragmatic, multicentre, double-blind, placebo-controlled randomised controlled trial

Selective serotonin reuptake inhibitors (SSRIs) are commonly prescribed to manage anxiety in adults with an autism diagnosis. However, their effectiveness and adverse effect profile in the autistic population are not well known. This trial aims to determine the effectiveness and cost-effectiveness of the SSRI sertraline in reducing symptoms of anxiety and improving quality of life in adults with a diagnosis of autism compared with placebo and to quantify any adverse effects. 

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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.

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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.