Clinical Heterogeneity of Autism Spectrum in 22q11.2 Deletion Syndrome

Project Details

Layman's description

Individuals with 22q11.2 Deletion Syndrome (22q11.2DS) is a genetic disorder that involves a microdeletion in chromosome 22 and affects 1 in 2148 live births. These individuals have a high prevalence of autistic symptoms and traits; however, the current literature lacks a comprehensive understanding of their specific behavioural profile. It is not quite clear if they experience similar ASD behaviours to those without genetic deletions. This is important when considering interventions and treatments

A few studies to date have compared individuals with 22q11.2DS and ASD directly with ASD in the general population, attempting to find out which of the symptoms experienced by individuals with 22q11.2.DS might be part of the condition independently, and which might be due to ASD specifically. One such study has found that the symptom profile of 22q11.2DS can be differentiated from ASD in the general population when considering some autistic symptoms (Bruining et al., 2010). Another more recent study by Chawner et al., (2020), found that although 22q11.2Ds individuals often did not meet clinical cut-offs for autism, they had significantly elevated autistic traits, and potentially a very specific ASD profile (Chawner et al., 2020).

As such, there is a current need to examine 22q11.2DS in more detail, to get a better understanding of underlying ASD traits more generally, but also to better understand how 22q11.2DS present in terms of autistic symptoms. In particular, it is key to examine a much wider set of behaviours. This way we might identify underlying patterns and behaviours specific to 22q11.2DS, which might be invaluable for designing treatments and interventions for his population.
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