Behavioural and neurodevelopmental characteristics of SYNGAP1 / Nadja BEDNARCZUK in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Behavioural and neurodevelopmental characteristics of SYNGAP1 Type de document : texte imprimé Auteurs : Nadja BEDNARCZUK, Auteur ; Harriet HOUSBY, Auteur ; Irene O. LEE, Auteur ; Imagine CONSORTIUM, Auteur ; David SKUSE, Auteur ; Jeanne WOLSTENCROFT, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  ras GTPase-Activating Proteins/genetics  Male  Child  Adolescent  Child, Preschool  Intellectual Disability/genetics/etiology  Developmental Disabilities/genetics/etiology  United Kingdom  Neurodevelopmental Disorders/genetics  Cohort Studies  Phenotype  Epilepsy/genetics  Seizures/genetics  Autism  Behaviour  Intellectual Disability  Neurodevelopment  Syngap1 Index. décimale : PER Périodiques Résumé : 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 (2:1) 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. En ligne : https://dx.doi.org/10.1186/s11689-024-09563-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Behavioural and neurodevelopmental characteristics of SYNGAP1 [texte imprimé] / Nadja BEDNARCZUK, Auteur ; Harriet HOUSBY, Auteur ; Irene O. LEE, Auteur ; Imagine CONSORTIUM, Auteur ; David SKUSE, Auteur ; Jeanne WOLSTENCROFT, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Female  ras GTPase-Activating Proteins/genetics  Male  Child  Adolescent  Child, Preschool  Intellectual Disability/genetics/etiology  Developmental Disabilities/genetics/etiology  United Kingdom  Neurodevelopmental Disorders/genetics  Cohort Studies  Phenotype  Epilepsy/genetics  Seizures/genetics  Autism  Behaviour  Intellectual Disability  Neurodevelopment  Syngap1 Index. décimale : PER Périodiques Résumé : 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 (2:1) 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. En ligne : https://dx.doi.org/10.1186/s11689-024-09563-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

New approaches to social skills training: Blended group interventions for girls with social communication difficulties / Jeanne WOLSTENCROFT in Autism Research, 14-5 (May 2021)  

Public ISBD [article]  inAutism Research > 14-5 (May 2021) . - p.1061-1072 Titre : New approaches to social skills training: Blended group interventions for girls with social communication difficulties Type de document : texte imprimé Auteurs : Jeanne WOLSTENCROFT, Auteur ; Eleanor KERRY, Auteur ; Hayley DENYER, Auteur ; Alice WATKINS, Auteur ; William MANDY, Auteur ; David SKUSE, Auteur Article en page(s) : p.1061-1072 Langues : Anglais (eng) Mots-clés : autism  e-health  girls  intervention  online treatment  social skills training Index. décimale : PER Périodiques Résumé : Social skills group interventions are increasing popular for children with social communication disorders but there is little evidence of their acceptability or effectiveness when delivered online. We report a feasibility study that adapted the Program for Education and Enrichment of Relational Skills (PEERS) to provide an intensive 8 week online delivery to female adolescents, blended with some face-to-face group meetings. A systematic multiple-case series design with case tracking was developed, comprising a 3-month baseline, a 2-month intervention and a 3-month follow-up period. Seven adolescents with Turner Syndrome and social communication difficulties (17-20 years) took part, together with their parents. Acceptability and feasibility were assessed by means of qualitative feedback and attendance rates. Changes in social adaptation were tracked using measures of social knowledge, social behaviour and autistic symptoms, plus anxiety and self-esteem. Attendance rates were consistently high and there were no dropouts. Qualitative feedback indicated the online format was acceptable to both the participants and their families. Objective outcome measures showed significant gains in social knowledge and improved social initiations from measures made during the pre-intervention baseline. This proof-of-principle pilot study demonstrated blended social skills interventions are both feasible and acceptable to adolescent females with social communication difficulties. LAY SUMMARY: Social skills groups are increasingly popular for children with social communication disorders, but there is little evidence for their use online. Psychological treatments that require weekly face-to-face sessions for both children and their parents are associated with practical difficulties, disrupting family life and school commitments. Our study, is the first to use a blended online and face-to-face social skills training program for adolescent girls with social communication difficulties. We showed that this new approach to treatment was acceptable to families and has a positive and significant impact on participant's social performance and social knowledge. This new treatment approach may increase the accessibility of treatment for adolescents and young adults, especially those with social communication difficulties. Autism Res 2021, 14: 1061-1072. © 2021 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2495 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444 [article] New approaches to social skills training: Blended group interventions for girls with social communication difficulties [texte imprimé] / Jeanne WOLSTENCROFT, Auteur ; Eleanor KERRY, Auteur ; Hayley DENYER, Auteur ; Alice WATKINS, Auteur ; William MANDY, Auteur ; David SKUSE, Auteur . - p.1061-1072. Langues : Anglais (eng) in Autism Research > 14-5 (May 2021) . - p.1061-1072 Mots-clés : autism  e-health  girls  intervention  online treatment  social skills training Index. décimale : PER Périodiques Résumé : Social skills group interventions are increasing popular for children with social communication disorders but there is little evidence of their acceptability or effectiveness when delivered online. We report a feasibility study that adapted the Program for Education and Enrichment of Relational Skills (PEERS) to provide an intensive 8 week online delivery to female adolescents, blended with some face-to-face group meetings. A systematic multiple-case series design with case tracking was developed, comprising a 3-month baseline, a 2-month intervention and a 3-month follow-up period. Seven adolescents with Turner Syndrome and social communication difficulties (17-20 years) took part, together with their parents. Acceptability and feasibility were assessed by means of qualitative feedback and attendance rates. Changes in social adaptation were tracked using measures of social knowledge, social behaviour and autistic symptoms, plus anxiety and self-esteem. Attendance rates were consistently high and there were no dropouts. Qualitative feedback indicated the online format was acceptable to both the participants and their families. Objective outcome measures showed significant gains in social knowledge and improved social initiations from measures made during the pre-intervention baseline. This proof-of-principle pilot study demonstrated blended social skills interventions are both feasible and acceptable to adolescent females with social communication difficulties. LAY SUMMARY: Social skills groups are increasingly popular for children with social communication disorders, but there is little evidence for their use online. Psychological treatments that require weekly face-to-face sessions for both children and their parents are associated with practical difficulties, disrupting family life and school commitments. Our study, is the first to use a blended online and face-to-face social skills training program for adolescent girls with social communication difficulties. We showed that this new approach to treatment was acceptable to families and has a positive and significant impact on participant's social performance and social knowledge. This new treatment approach may increase the accessibility of treatment for adolescents and young adults, especially those with social communication difficulties. Autism Res 2021, 14: 1061-1072. © 2021 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2495 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444

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