Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support

Abstract

Purpose of Review Elevated prevalence of autism characteristics is reported in genetic syndromes associated with intellectual disability. This review summarises recent evidence on the behavioural heterogeneity of autism in the following syndromes: Fragile X, Cornelia de Lange, Williams, Prader-Willi, Angelman, Down, Smith-Magenis, and tuberous sclerosis complex. Key considerations for assessment and support are discussed. Recent Findings The profile and developmental trajectory of autism-related behaviour in these syndromes indicate some degree of syndrome specificity which may interact with broader behavioural phenotypes (e.g. hypersociability), intellectual disability, and mental health (e.g. anxiety). Genetic subtype and co-occurring epilepsy within syndromes contribute to increased significance of autism characteristics. Autism-related strengths and challenges are likely to be overlooked or misunderstood using existing screening/diagnostic tools and criteria, which lack sensitivity and specificity within these populations. Summary Autism characteristics are highly heterogeneous across genetic syndromes and often distinguishable from non-syndromic autism. Autism diagnostic assessment practices in this population should be tailored to specific syndromes. Service provisions must begin to prioritise needs-led support.

Visual attention patterns during a gaze following task in neurogenetic syndromes associated with unique profiles of autistic traits: fragile X and Cornelia de Lange syndromes

“…Thus, our data analysis strategy was to detect meaningful differences and patterns in visual attention profiles, whilst limiting the number of group comparisons. Whilst these groups are rare individually, collectively they are common (Dodge et al, 2011) and have some of the highest level of clinical need due to their complex clinical presentations (Jenner, Richards, Howard, & Moss, 2023). These issues highlight that national and international collaboration is vital to pool resources and expand the reach of participants to increase sample sizes within these under-represented groups.…”

Clinical Profiles in Autism Spectrum Disorder: Enhancing Diagnosis, Treatment, and Overall Health Outcomes

“…The Syndromic Profile within the autism spectrum is mainly observed in individuals with preestablished genetic syndromes such as Down Syndrome, Fragile X Syndrome, and Rett Syndrome [20][21][22]. In such cases, the primary focus is often on genetic syndromes, which can lead to specific physical characteristics, such as low-set ears.…”

Combined extended reality and reinforcement learning to promote healthcare and reduce social anxiety in fragile X syndrome: a new assessment tool and a rehabilitative strategy

“…Further evaluations might be assessed with neuropsychological and neurophysiological measures (e.g., event-related potentials, neural oscillations, and animal models). Outcomes of clinical trials, profiles, and developmental trajectories may additionally indicate the degree of sensitivity (Budimirovic et al, 2017 ; Sinclair et al, 2017 ; Jenner et al, 2023 ).…”