An exploration of the psychological and behavioural profile of specific genetic syndromes, including Malan Syndrome and Sotos Syndrome

Thesis abstract:

The current thesis aimed to explore the psychological and behavioural profile of specific genetic syndromes. This was achieved by a systematic literature review and meta-analysis of the prevalence rate of several genetic syndromes, as well as an empirical study into autism spectrum disorders and anxiety in Malan Syndrome and Sotos Syndrome.

Systematic literature review and meta-analysis:

A systematic literature review and meta-analysis was conducted to investigate the association between ADHD and genetic neurodevelopmental syndromes. A pooled estimate was calculated using a random effects model and heterogeneity between studies was explored. The estimate across syndromes was estimated at 0.34 (95% CI 0.30 – 0.37) and high heterogeneity was identified. Different analyses were conducted to try to identify potential causes of high heterogeneity and prevalence rate estimates were recalculated as an attempt to correct for this. The genetic syndrome with the highest uncorrected estimate was seen in Fragile X, with an estimate of 0.47 (95% CI 0.38 – 0.57), and the lowest was seen in Turner Syndrome, with an estimate of 0.18 (95% CI 0.08 – 0.28).

Research report:

Anxiety and Autism Spectrum Disorder (ASD) traits have been associated with Sotos syndrome and Malan syndrome (“Sotos syndrome 2”). However, research in both are limited and the profile of difficulties has not been previously fully explored. Parents/caregivers of 15 children with Malan syndrome and 9 children with Sotos syndrome completed an online survey and results were compared with existing data to explore the specific profile of difficulties in both syndrome groups. Results suggested ASD may be characteristic of Malan syndrome although not to the same extent as Sotos syndrome and idiopathic ASD. Similar levels of anxiety were seen in Malan syndrome and idiopathic ASD although this was lower than seen in Sotos syndrome. The study concludes that both ASD and anxiety may be characteristic of Malan syndrome, although potentially not to the same extent as in Sotos syndrome.