Overview of Portfolio

Autism assessment in children with genetic syndromes associated with intellectual disability presents unique clinical and diagnostic challenges. Overlapping developmental characteristics, diagnostic ambiguity, and variability in professional knowledge may complicate recognition of co-occurring autism and influence families’ experiences of assessment and support pathways.

Part one of this portfolio presents a qualitative study exploring parent and carer experiences of navigating autism assessment pathways for children with pre-existing genetic syndromes associated with intellectual disability. Semi-structured interviews were conducted with seven mothers and analysed using reflexive thematic analysis. Four themes were generated regarding early parental recognition of developmental differences, diagnosis as a gateway to support, the ongoing burden of advocacy, and experiences of feeling unseen or overshadowed within professional systems. The findings highlight the emotional and practical challenges families experience when navigating fragmented assessment and support systems.

Part two presents a quantitative study examining predictors of autism diagnosis and autism-related characteristics in children and adults with confirmed genetic syndromes. Using data from the Behavioural and Emotional Outcomes in Neurodevelopmental Disorders (BEOND) dataset, the study explored associations between autism diagnosis, autism-related characteristics, adaptive functioning, sensory processing, challenging behaviour, and sleep difficulties. The findings demonstrated that autism-related characteristics and sensory differences were most strongly associated with autism diagnosis, while also highlighting discrepancies between screening questionnaire thresholds and reported clinical diagnosis.

These two studies provide complementary perspectives on autism identification in individuals with genetic syndromes associated with intellectual disability. Paper 1 provides an experiential account of how families recognise autism-related differences and navigate assessment and support pathways, whereas Paper 2 examines, at a quantitative level, the developmental and behavioural characteristics associated with autism diagnosis and screening outcomes. The findings highlight that autism identification in this population is shaped by both the complexity of individual developmental profiles and the systems through which these characteristics are recognised, assessed, and responded to.