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Interactions between the lipidome and genetic and environmental factors in autism

Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank.

Parent-Child Interactions May Help to Explain Relations Between Parent Characteristics and Clinically Observed Child Autistic Behaviours

The importance of supporting parent-child interactions has been noted in the context of prodromal autism, but little consideration has been given to the possible contributing role of parental characteristics, such as psychological distress. This cross-sectional study tested models in which parent-child interaction variables mediated relations between parent characteristics and child autistic behaviour in a sample of families whose infant demonstrated early signs of autism.

Assessing Restricted and Repetitive Behaviours in Online-Sampled Autistic and Non-autistic Individuals: Factor Structure of the Repetitive Behaviours Questionnaire for Adults (RBQ-2A)

The Repetitive Behaviours Questionnaire for Adults (RBQ-2A) measures two factors of restricted and repetitive behaviours (RRBs) associated with autism. However, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) provides four criteria for RRBs: repetitive motor behaviours, insistence on sameness, restricted interests, and interest in sensory aspects of the environment (or atypical sensitivity).

An Evaluation of the Overall Utility of Measures of Functioning Suitable for School-Aged Children on the Autism Spectrum: A Scoping Review

A diagnosis of an autism spectrum condition (autism) provides limited information regarding an individual’s level of functioning, information key in determining support and funding needs.

The Utility of Natural Language Samples for Assessing Communication and Language in Infants Referred with Early Signs of Autism

Natural Language Sampling (NLS) offers clear potential for communication and language assessment, where other data might be difficult to interpret. We leveraged existing primary data for 18-month-olds showing early signs of autism, to examine the reliability and concurrent construct validity of NLS-derived measures coded from video-of child language, parent linguistic input, and dyadic balance of communicative interaction-against standardised assessment scores. Using Systematic Analysis of Language Transcripts (SALT) software and coding conventions, masked coders achieved good-to-excellent inter-rater agreement across all measures.

Parent experiences of their children’s diagnosis with autism, attention deficit hyperactivity disorder, or both conditions

A comparison of parents’ experiences of getting a diagnosis for their child with autism, attention deficit hyperactivity disorder (ADHD) and both diagnoses can inform our understanding of common and unique themes across these neurodevelopmental conditions.

Continuity of temperament subgroup classifications from infancy to toddlerhood in the context of early autism traits

Our previous cross-sectional investigation (Chetcuti et al., 2020) showed that infants with autism traits could be divided into distinct subgroups based on temperament. This longitudinal study builds on this existing work by exploring the continuity of temperament subgroup classifications and their associations with behavioral/clinical phenotypic features from infancy to toddlerhood.

Behavioural and neuropsychological outcomes in children exposed in utero to maternal labour epidural analgesia

Recent studies report conflicting results regarding the relationship between labour epidural analgesia (LEA) in mothers and neurodevelopmental disorders in their offspring. We evaluated behavioural and neuropsychological test scores in children of mothers who used LEA.

Quality of life beyond diagnosis in intellectual disability – Latent profiling

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.

Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered.