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Behavioural and neurodevelopmental characteristics of SYNGAP1.
Bednarczuk, Nadja; Housby, Harriet; Lee, Irene O; Consortium, Imagine; Skuse, David; Wolstencroft, Jeanne.
Afiliación
  • Bednarczuk N; Behavioural and Brain Sciences Unit, Population, Policy and Practice Department, University College London (UCL) Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • Housby H; Behavioural and Brain Sciences Unit, Population, Policy and Practice Department, University College London (UCL) Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • Lee IO; Behavioural and Brain Sciences Unit, Population, Policy and Practice Department, University College London (UCL) Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • Consortium I; Behavioural and Brain Sciences Unit, Population, Policy and Practice Department, University College London (UCL) Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • Skuse D; Behavioural and Brain Sciences Unit, Population, Policy and Practice Department, University College London (UCL) Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • Wolstencroft J; Behavioural and Brain Sciences Unit, Population, Policy and Practice Department, University College London (UCL) Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK. j.wolstencroft@ucl.ac.uk.
J Neurodev Disord ; 16(1): 46, 2024 Aug 15.
Article en En | MEDLINE | ID: mdl-39148034
ABSTRACT

BACKGROUND:

SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype. We aimed to contrast the neurodevelopmental and behavioural phenotype of children with SYNGAP1-related ID (SYNGAP1-ID) to children with other monogenic conditions and a matched degree of ID.

METHODS:

Participants were identified from the IMAGINE-ID study, a UK-based, national cohort study of neuropsychiatric risk in children with ID of known genetic origin. Thirteen children with SYNGAP1 variants (age 4-16 years; 85% female) were matched (21) with 26 controls with other monogenic causes of ID for chronological and mental age, sex, socio-economic deprivation, adaptive behaviour, and physical health difficulties. Caregivers completed the Development and Wellbeing Assessment (DAWBA) and physical health questionnaires.

RESULTS:

Our results demonstrate that seizures affected children with SYNGAP1-ID (84.6%) more frequently than the ID-comparison group (7.6%; p = < 0.001). Fine-motor development was disproportionally impaired in SYNGAP1-ID, with 92.3% of children experiencing difficulties compared to 50% of ID-comparisons(p = 0.03). Gross motor and social development did not differ between the two groups. Children with SYNGAP1-ID were more likely to be non-verbal (61.5%) than ID-comparisons (23.1%; p = 0.01). Those children able to speak, spoke their first words at the same age as the ID-comparison group (mean = 3.25 years), yet achieved lower language competency (p = 0.04). Children with SYNGAP1-ID compared to the ID-comparison group were not more likely to meet criteria for autism (SYNGAP1-ID = 46.2%; ID-comparison = 30.7%; p = .35), attention-deficit hyperactivity disorder (15.4%;15.4%; p = 1), generalised anxiety (7.7%;15.4%; p = .49) or oppositional defiant disorder (7.7%;0%; p = .15).

CONCLUSION:

For the first time, we demonstrate that SYNGAP1-ID is associated with fine motor and language difficulties beyond those experienced by children with other genetic causes of DD and ID. Targeted occupational and speech and language therapies should be incorporated early into SYNGAP1-ID management.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Activadoras de ras GTPasa / Discapacidad Intelectual Límite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: J Neurodev Disord Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Activadoras de ras GTPasa / Discapacidad Intelectual Límite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: J Neurodev Disord Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido