Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description / Damien WRIGHT in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description Type de document : texte imprimé Auteurs : Damien WRIGHT, Auteur ; Aisling KENNY, Auteur ; Sarah ELEY, Auteur ; Andrew G. MCKECHANIE, Auteur ; Andrew C. STANFIELD, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology  Caregivers  Child  Epilepsy/complications/genetics  Humans  Intellectual Disability/genetics  Parents  ras GTPase-Activating Proteins/genetics  Behavioural phenotype  Intellectual disability, Autism  SYNGAP1-related ID  received consultancy fees from GW Pharma. ACS has previously received grants and  consultancy fees from Novartis and Roche. Index. décimale : PER Périodiques Résumé : BACKGROUND: SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly been highlighted via the prevalence of existing diagnoses in case series. We set out to detail the behavioural features of this disorder by undertaking interviews with those who have a child with SYNGAP1-related ID to allow them to describe their child's behaviour. METHODS: We conducted 27 semi-structured interviews with parents and caregivers which covered basic information (e.g., age, gender), family history, perinatal history, past medical history, developmental history, epilepsy, behavioural history, and a general description of their child's behaviour. RESULTS: Using a mixed quantitative and qualitative approach, the responses from the parents indicated that those with SYNGAP1-related ID showed high rates of autism spectrum disorder (52%), difficulties with fine and gross motor skills, delays in language development, and a high prevalence of epilepsy (70%). A qualitative analysis highlighted their general behaviour affected the themes of daily living skills, distress-related behaviours, emotional regulation, difficulties with change, a lack of danger awareness, and sensory differences. Sensory features described involved auditory, visual, tactile, gustatory, and proprioceptive themes. CONCLUSIONS: Our findings and behavioural descriptions provide important insights as well as implications for the diagnosis and care of those with SYNGAP1-related ID. En ligne : https://dx.doi.org/10.1186/s11689-022-09437-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description [texte imprimé] / Damien WRIGHT, Auteur ; Aisling KENNY, Auteur ; Sarah ELEY, Auteur ; Andrew G. MCKECHANIE, Auteur ; Andrew C. STANFIELD, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Autism Spectrum Disorder/epidemiology  Caregivers  Child  Epilepsy/complications/genetics  Humans  Intellectual Disability/genetics  Parents  ras GTPase-Activating Proteins/genetics  Behavioural phenotype  Intellectual disability, Autism  SYNGAP1-related ID  received consultancy fees from GW Pharma. ACS has previously received grants and  consultancy fees from Novartis and Roche. Index. décimale : PER Périodiques Résumé : BACKGROUND: SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly been highlighted via the prevalence of existing diagnoses in case series. We set out to detail the behavioural features of this disorder by undertaking interviews with those who have a child with SYNGAP1-related ID to allow them to describe their child's behaviour. METHODS: We conducted 27 semi-structured interviews with parents and caregivers which covered basic information (e.g., age, gender), family history, perinatal history, past medical history, developmental history, epilepsy, behavioural history, and a general description of their child's behaviour. RESULTS: Using a mixed quantitative and qualitative approach, the responses from the parents indicated that those with SYNGAP1-related ID showed high rates of autism spectrum disorder (52%), difficulties with fine and gross motor skills, delays in language development, and a high prevalence of epilepsy (70%). A qualitative analysis highlighted their general behaviour affected the themes of daily living skills, distress-related behaviours, emotional regulation, difficulties with change, a lack of danger awareness, and sensory differences. Sensory features described involved auditory, visual, tactile, gustatory, and proprioceptive themes. CONCLUSIONS: Our findings and behavioural descriptions provide important insights as well as implications for the diagnosis and care of those with SYNGAP1-related ID. En ligne : https://dx.doi.org/10.1186/s11689-022-09437-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability / Damien WRIGHT ; Aisling KENNY ; Lindsay A.M. MIZEN ; Andrew G. MCKECHANIE ; Andrew C. STANFIELD in Journal of Autism and Developmental Disorders, 55-1 (January 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-1 (January 2025) . - p.297-309 Titre : Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability : Journal of Autism and Developmental Disorders Type de document : texte imprimé Auteurs : Damien WRIGHT, Auteur ; Aisling KENNY, Auteur ; Lindsay A.M. MIZEN, Auteur ; Andrew G. MCKECHANIE, Auteur ; Andrew C. STANFIELD, Auteur Article en page(s) : p.297-309 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : SYNGAP1-related ID is a genetic condition characterised by global developmental delay and epilepsy. Individuals with SYNGAP1-related ID also commonly show differences in attention and social communication/interaction and frequently receive additional diagnoses of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). We thus set out to quantify ASD and ADHD symptoms in children with this syndrome. To assess ASD and ADHD, parents and caregivers of a child with SYNGAP1-related ID (N = 34) or a typically developing control (N = 21) completed the Social Responsiveness Scale-2, the Social Communication Questionnaire with a subset of these also completing the Conners-3. We found that those with SYNGAP1-related ID demonstrated higher levels of autistic traits on both the SRS and SCQ than typically developing controls. On the SRS, those with SYNGAP1-related ID scored highest for restricted repetitive behaviours, and were least impaired in social awareness. On the Conners-3, those with SYNGAP1-related ID also showed a high prevalence of ADHD traits, with scores demonstrating difficulties with peer relations but relatively low occurrence of symptoms for DSM-5 conduct disorder and DSM-5 oppositional defiant disorder. Hierarchical clustering analysis highlighted distinct SYNGAP1-related ID subgroups for both ASD and ADHD traits. These findings provide further characterisation of the SYNGAP1-related ID behavioural phenotype, guiding diagnosis, assessment and potential interventions. En ligne : https://doi.org/10.1007/s10803-023-06162-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546 [article] Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability : Journal of Autism and Developmental Disorders [texte imprimé] / Damien WRIGHT, Auteur ; Aisling KENNY, Auteur ; Lindsay A.M. MIZEN, Auteur ; Andrew G. MCKECHANIE, Auteur ; Andrew C. STANFIELD, Auteur . - p.297-309. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-1 (January 2025) . - p.297-309 Index. décimale : PER Périodiques Résumé : SYNGAP1-related ID is a genetic condition characterised by global developmental delay and epilepsy. Individuals with SYNGAP1-related ID also commonly show differences in attention and social communication/interaction and frequently receive additional diagnoses of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). We thus set out to quantify ASD and ADHD symptoms in children with this syndrome. To assess ASD and ADHD, parents and caregivers of a child with SYNGAP1-related ID (N = 34) or a typically developing control (N = 21) completed the Social Responsiveness Scale-2, the Social Communication Questionnaire with a subset of these also completing the Conners-3. We found that those with SYNGAP1-related ID demonstrated higher levels of autistic traits on both the SRS and SCQ than typically developing controls. On the SRS, those with SYNGAP1-related ID scored highest for restricted repetitive behaviours, and were least impaired in social awareness. On the Conners-3, those with SYNGAP1-related ID also showed a high prevalence of ADHD traits, with scores demonstrating difficulties with peer relations but relatively low occurrence of symptoms for DSM-5 conduct disorder and DSM-5 oppositional defiant disorder. Hierarchical clustering analysis highlighted distinct SYNGAP1-related ID subgroups for both ASD and ADHD traits. These findings provide further characterisation of the SYNGAP1-related ID behavioural phenotype, guiding diagnosis, assessment and potential interventions. En ligne : https://doi.org/10.1007/s10803-023-06162-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546

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