There is significant heterogeneity in clinical presentations, brain-imaging findings, and genetic underpinnings of autism. Autism traits, particularly social affect and joint attention, and related domains of adaptive functioning and cognitive development, are key characteristics in determining autism “profiles”. This study aimed to understand such baseline profiles in preschool autistic children receiving early intervention (age range, 2–7 years old; sample size N = 67). We also examined the association between phenotypic pre-intervention characteristics and response to intervention using Early Start Denver Model (ESDM). Baseline characteristics prior to receiving early intervention demonstrated a link between eye tracking measure of joint attention, namely better gaze accuracy, and clinical profile of autism traits, particularly better social affect/social overtures and adaptive functioning. Further, better receptive and expressive language, visual reception and fine motor skills, and higher development quotients on a visual processing task, were found to be associated with more accurate eye movements on a joint attention task. Predictors of improvement in autistic traits post-intervention included higher age at entry to intervention and baseline developmental functioning. Specifically, social affect was found to change in the same direction as cognitive functioning post-ESDM intervention, especially with regard to visual reception, fine motor and receptive language skills. The findings also suggest that better social affect and joint attention, characterised by better social overtures and maintenance of attention, are predictive of more accurate eye gaze in a social exercise, thereby making these potential intervention targets in early intervention.
A. Stylianakis, H. Pincham, Sparsh Chawla et al.· Journal of Neurodevelopmenta...· 0 citations
PURPOSE OF REVIEW
This paper covers some of the key findings on the topic of genetic influences in autism over the last 12-18 months, which consist of significant conceptual shifts and new insights from recent technological advances.
RECENT FINDINGS
Autism is a highly heritable condition, with significant heterogeneity of the genes that influence the development of this condition. The heterogeneity of autism, and multiple pathways contributing to the development of an autistic phenotype, create challenges in our understanding, diagnosis, and management of this condition.Recent studies of common genetic variation and polygenic risk scores have focussed on resolving phenotypic heterogeneity and identifying meaningful autism subtypes. Rare-variant discovery has expanded across ancestries, the X chromosome, noncoding loci, structural variants, and tandem repeats, aided by long-read and pangenome-informed sequencing. Single-cell multiomics, spatial perturbation methods and human organoid models have connected genetic variation to cell-type-specific and developmental phenotypes, while also revealing substantial mutation-specific effects and methodological sensitivity. Genetic testing increasingly provides aetiological diagnoses and informs medical surveillance. Recent developments also illustrate the therapeutic potential of gene-first approaches for selected monogenic neurodevelopmental disorders.
SUMMARY
Recent developments have expanded our understanding of the way the genetic basis of autism manifests phenotypically.
V. Eapen, A. Stylianakis, I. Voineagu· Current Opinion in Psychiatr...· 0 citations
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