Investigating behavioural, developmental, and psychological characteristics in individuals with germline PTEN mutations

PTEN mutations have previously been associated with difficulties related to autism spectrum disorder/conditions (ASD/C), but relatively little is known about other behavioural, developmental, and psychological characteristics/experiences for those with germline PTEN mutations. This thesis seeks to explore existing literature on such variables through a literature review and meta-analysis, followed by an empirical study exploring behavioural/psychological variables and their potential inter-relationships.

Literature review

A systematic search found 25 papers reporting on behavioural and psychological variables associated with PTEN mutations. Frequently reported characteristics included: ASD-related behaviours, intellectual disability, and developmental delay (especially speech and motor delay). However, emotional distress, behaviours that challenged and impaired cognitive functioning were reported less often. A meta-analysis using a random effects model estimated pooled prevalence of ASD characteristics at 25% (95%CI:16-33%). It was noted that methodology across the studies was variable, and information was often lacking when concerning psychological characteristics.

Research Report

Parents/caregivers of 20 children aged 2-15 years with PTEN mutations completed an online survey. The results were then compared with normative data and data from groups of people with other syndromes. The results suggested a relatively consistent, but lower level of ability, with elevated levels of ASC-related difficulties, sensory atypicalities (especially hypo-responsiveness), and anxiety. However, social motivation was closer to typical levels, and social anxiety remained similar to the level seen in the ‘typically developing’ normative data, suggesting less difficulties in these areas. Self-injurious behaviour was more common for those with sensory atypicalities, lower adaptive ability, higher levels of ASC-related difficulties and reduced mood. Hypermobility and quality of life were both correlated with ASC phenomenology among other variables. The study highlights a wide range of potential difficulties associated with PTEN mutations, and it is suggested that support should be provided accordingly.