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Parent-reported atypical development in the first year of life and age of autism diagnosis

This study examined whether parent-reported atypical development in their child's first year was associated with age of diagnosis and age when parents first needed to consult a specialist about their child's development.

Community perspectives on the appropriateness and importance of support goals for young autistic children

Researchers do not know much about what autistic adults, parents and professionals think about support goals for young autistic children. People's views of support goals might also be influenced by their beliefs about early support more generally. This survey involved 87 autistic adults, 159 parents of autistic children and 80 clinical professionals living in New Zealand and Australia.

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.

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.

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.

Child and Family Characteristics Associated with Symptoms of Anxiety in Autistic Children: A Biobank Study

Autistic children have an increased likelihood of anxiety, but more research is needed on the characteristics that predict various types of anxiety in this population. 

Caregiver perspectives regarding the impact of feeding difficulties on mealtime participation for primary school-aged autistic children and their families

Although up to 89% of autistic children experience feeding difficulties, little is known about the impact of these difficulties on mealtime participation. The aim of this study was to explore the impact of feeding difficulties on the mealtime participation of autistic children and their families based on caregiver experiences.

Critical Appraisal of Systematic Reviews Assessing Gut Microbiota and Effect of Probiotic Supplementation in Children with ASD—An Umbrella Review

Given the significance of gut microbiota in autism spectrum disorder (ASD), we aimed to assess the quality of systematic reviews (SRs) of studies assessing gut microbiota and effects of probiotic supplementation in children with ASD. PubMed, EMBASE, PsycINFO, Medline, and Cochrane databases were searched from inception to November 2024. 

Plasma Metabolite Profiles of Children with Autism Spectrum Disorder

Autism spectrum disorder (ASD), a neurodevelopmental condition characterised by social and communication differences, is complex and aetiologically heterogeneous. Untargeted metabolomics is emerging as a tool in screening for biochemical abnormalities. This research was conducted using the Australian Autism Biobank resource and involved analysis of plasma metabolites to characterise metabolite differences between autistic children and controls.