The Cognitive Phenotype Associated with a PTEN Mutation: Impact on Family Functioning and Communication

Adey, C. and Dorris, L. (2013) The Cognitive Phenotype Associated with a PTEN Mutation: Impact on Family Functioning and Communication. Annual Meeting of the British Paediatric Neurology Association, Manchester, UK, 23-25 Jan 2013. pp. 17-33. (doi: 10.1111/dmcn.12068)

Abstract

Objective: The tumour suppressor gene PTEN is involved in neurogenesis and neuromodulation across the lifespan, and PTEN mutations have been reported in children with autism and macrocephaly. We report the cognitive and behavioural pheno type within an affected family group where the index child and his father have a PTEN mutation associated with macrocephaly and complex neurodevelopmental disorder. Methods: We conducted neuropsychological tests alongside a range of social cognitive and systemising tests (systemising con cerns the perception and understanding of physical causality) with four family members. Measures included: WISC-IV (IQ); CMS (memory); the Empathy Quotient (EQ); Systemising Quotient (SQ); Autism Quotient (AQ); and the Reading the Mind in the Eyes Test. We also report our psychological assessment and ther apeutic support around the communication and relational difficul ties the family were experiencing. Results: The index child was diagnosed with an autistic spectrum disorder and found to have an IQ within the extremely low range (<2nd percentile), with low empathy scores and high systemising scores, and scored >99th percentile on the AQ. His father, who is an engineer, scored within the average range on IQ testing but had similarly low empathy scores and high systemising scores. The father reported behaviours consistent with the broader aut ism phenotype, and his score on the AQ fell within the range typi cal of adults with High-Functioning Autism/Aspergers. A male sibling and his mother scored within the average range on IQ testing and highly on empathy tests, with low scores on systemis ing tests, and on the AQ. Clinical interview highlighted significant communication difficulties within the family sufficient to cause severe parental discord and relationship stress. Conclusions: The presence of a PTEN mutation can be associated with communication and cognitive difficulties similar to those often described as the broader autism phenotype.

• Item Type: Conference or Workshop Item
• Additional Information: Abstract published in Developmental Medicine and Child Neurology 55(S1):32.
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Adey, Claire and Dorris, Professor Liam
• Authors: Adey, C., and Dorris, L.
• College/School: College of Medical Veterinary and Life Sciences; College of Medical Veterinary and Life Sciences > School of Health & Wellbeing > Mental Health and Wellbeing
• Journal Name: Developmental Medicine & Child Neurology
• ISSN: 0012-1622