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Behavioural, developmental and psychological characteristics in children with germline PTEN mutations: a carer report study.
Cummings, K; Dias, R P; Hart, R; Welham, A.
Affiliation
  • Cummings K; Department of Psychological Services, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK.
  • Dias RP; Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.
  • Hart R; Department of Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Welham A; Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
J Intellect Disabil Res ; 68(8): 916-931, 2024 Aug.
Article in En | MEDLINE | ID: mdl-38505951
ABSTRACT

BACKGROUND:

PTEN is primarily known as a tumour suppressor gene. However, research describes higher rates of difficulties including intellectual disability and difficulties relating to autism spectrum conditions (ASCs) in people with germline PTEN mutations. Other psychological characteristics/experiences are less often reported and are explored in this study.

METHODS:

The parents of 20 children with PTEN mutations completed an online survey exploring adaptive behaviour, ASC-associated behaviours, anxiety, mood, hypermobility, behaviours that challenge, sensory experiences, quality of life and parental wellbeing. Published normative data and data from groups of individuals with other genetic neurodevelopmental conditions were used to contextualise findings.

RESULTS:

Overall levels of adaptive behaviour were below the 'typical' range, and no marked relative differences were noted between domains. Higher levels of ASC-related difficulties, including sensory experiences, were found in comparison with 'typically developing' children, with a possible peak in restrictive/repetitive behaviour; ASC and sensory processing atypicality also strongly correlated with reported joint hypermobility. A relative preservation of social motivation was noted. Anxiety levels were found to be elevated overall (and to relate to sensory processing and joint hypermobility), with the exception of social anxiety, which was comparable with normative data. Self-injurious behaviour was common.

CONCLUSIONS:

Results suggest a wide range of possible difficulties in children with PTEN mutations, including elevated anxiety. Despite elevated ASC phenomenology, social motivation may remain relatively strong. Firm conclusions are restricted by a small sample size and potential recruitment bias, and future research is required to further explore the relationships between such characteristics.
Subject(s)
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: PTEN Phosphohydrolase / Autism Spectrum Disorder Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Intellect Disabil Res Journal subject: TRANSTORNOS MENTAIS Year: 2024 Document type: Article Country of publication: United kingdom

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: PTEN Phosphohydrolase / Autism Spectrum Disorder Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Intellect Disabil Res Journal subject: TRANSTORNOS MENTAIS Year: 2024 Document type: Article Country of publication: United kingdom