The Behavioral Profile of SYNGAP1-Related Intellectual Disability

Damien Wright; Aisling Kenny; Lindsay A M Mizen; Andrew G McKechanie; Andrew C Stanfield

doi:10.1352/1944-7558-129.3.199

The Behavioral Profile of SYNGAP1-Related Intellectual Disability

Damien Wright^*, Aisling Kenny, Lindsay A M Mizen, Andrew G McKechanie, Andrew C Stanfield

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract / Description of output

This study aimed to describe the behavioral profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically developing individuals completed the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive behaviors and higher levels of internalizing and externalizing behaviors across almost all domains compared to typically developing controls. There was some evidence that these differences were greatest in older children, and more apparent in those with co-occuring epilepsy. This characterization of the phenotype of SYNGAP1-ID significantly aids our understanding of the behavioral profile of this population and is a step towards the development of tailored interventions.

Original language	English
Pages (from-to)	199-214
Number of pages	16
Journal	American Journal on Intellectual and Developmental Disabilities
Volume	129
Issue number	3
DOIs	https://doi.org/10.1352/1944-7558-129.3.199
Publication status	Published - 25 Apr 2024

Keywords / Materials (for Non-textual outputs)

Humans
Child
Male
Female
Intellectual Disability
Child, Preschool
ras GTPase-Activating Proteins/genetics
Adolescent
Adaptation, Psychological/physiology
Child Behavior/physiology
Epilepsy

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10.1352/1944-7558-129.3.199

Beh_profile_SYNGAP1_AJIDDAccepted author manuscript, 71.8 KBLicence: Unspecified

Cite this

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title = "The Behavioral Profile of SYNGAP1-Related Intellectual Disability",

abstract = "This study aimed to describe the behavioral profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically developing individuals completed the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive behaviors and higher levels of internalizing and externalizing behaviors across almost all domains compared to typically developing controls. There was some evidence that these differences were greatest in older children, and more apparent in those with co-occuring epilepsy. This characterization of the phenotype of SYNGAP1-ID significantly aids our understanding of the behavioral profile of this population and is a step towards the development of tailored interventions.",

keywords = "Humans, Child, Male, Female, Intellectual Disability, Child, Preschool, ras GTPase-Activating Proteins/genetics, Adolescent, Adaptation, Psychological/physiology, Child Behavior/physiology, Epilepsy",

author = "Damien Wright and Aisling Kenny and Mizen, {Lindsay A M} and McKechanie, {Andrew G} and Stanfield, {Andrew C}",

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AU - Stanfield, Andrew C

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AB - This study aimed to describe the behavioral profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically developing individuals completed the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive behaviors and higher levels of internalizing and externalizing behaviors across almost all domains compared to typically developing controls. There was some evidence that these differences were greatest in older children, and more apparent in those with co-occuring epilepsy. This characterization of the phenotype of SYNGAP1-ID significantly aids our understanding of the behavioral profile of this population and is a step towards the development of tailored interventions.

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KW - Child

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KW - Female

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KW - Adolescent

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KW - Child Behavior/physiology

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The Behavioral Profile of SYNGAP1-Related Intellectual Disability

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Keywords / Materials (for Non-textual outputs)

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