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Détail de l'auteur
Auteur E. NG-CORDELL |
Documents disponibles écrits par cet auteur (2)
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Anxiety in Williams Syndrome: The Role of Social Behaviour, Executive Functions and Change Over Time / E. NG-CORDELL in Journal of Autism and Developmental Disorders, 48-3 (March 2018)
[article]
Titre : Anxiety in Williams Syndrome: The Role of Social Behaviour, Executive Functions and Change Over Time Type de document : Texte imprimé et/ou numérique Auteurs : E. NG-CORDELL, Auteur ; M. HANLEY, Auteur ; A. KELLY, Auteur ; D. M. RIBY, Auteur Année de publication : 2018 Article en page(s) : p.796-808 Langues : Anglais (eng) Mots-clés : Anxiety Executive function Longitudinal Social functioning Williams syndrome Index. décimale : PER Périodiques Résumé : Anxiety is a prevalent mental health issue for individuals with Williams syndrome (WS). Relatively little is known about the developmental course of anxiety, or how it links with core features of WS, namely social and executive functioning (EF). In this study, parent-reports of anxiety were compared across a 4-year period (N = 17), and links between anxiety, social and EF were explored from concurrent parent-reports (N = 26). Results indicated that high anxiety persisted over time, and anxiety was related to impairments in both social and executive functioning. Importantly, results indicated that impairments in EFs may drive the links between anxiety and social functioning. This timely investigation provides new insights into anxiety in WS and highlights potential areas for intervention. En ligne : https://doi.org/10.1007/s10803-017-3357-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=338
in Journal of Autism and Developmental Disorders > 48-3 (March 2018) . - p.796-808[article] Anxiety in Williams Syndrome: The Role of Social Behaviour, Executive Functions and Change Over Time [Texte imprimé et/ou numérique] / E. NG-CORDELL, Auteur ; M. HANLEY, Auteur ; A. KELLY, Auteur ; D. M. RIBY, Auteur . - 2018 . - p.796-808.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-3 (March 2018) . - p.796-808
Mots-clés : Anxiety Executive function Longitudinal Social functioning Williams syndrome Index. décimale : PER Périodiques Résumé : Anxiety is a prevalent mental health issue for individuals with Williams syndrome (WS). Relatively little is known about the developmental course of anxiety, or how it links with core features of WS, namely social and executive functioning (EF). In this study, parent-reports of anxiety were compared across a 4-year period (N = 17), and links between anxiety, social and EF were explored from concurrent parent-reports (N = 26). Results indicated that high anxiety persisted over time, and anxiety was related to impairments in both social and executive functioning. Importantly, results indicated that impairments in EFs may drive the links between anxiety and social functioning. This timely investigation provides new insights into anxiety in WS and highlights potential areas for intervention. En ligne : https://doi.org/10.1007/s10803-017-3357-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=338 STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics / S. O'BRIEN in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)
[article]
Titre : STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics Type de document : Texte imprimé et/ou numérique Auteurs : S. O'BRIEN, Auteur ; E. NG-CORDELL, Auteur ; Duncan E. ASTLE, Auteur ; G. SCERIF, Auteur ; K. BAKER, Auteur Article en page(s) : 17 p. Langues : Anglais (eng) Mots-clés : Epilepsy Intellectual disability Language Stxbp1 Social Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with this genetic diagnosis. METHODS: To address this, we collected systematic phenotyping data encompassing neurological, developmental, and behavioural characteristics. Participants were 14 individuals with STXBP1-associated neurodevelopmental disorder, ascertained from clinical genetics and neurology services UK-wide. Data was collected via standardised questionnaires administered to parents at home, supplemented by researcher observations. To isolate discriminating phenotypes, the STXBP1 group was compared to 33 individuals with pathogenic mutations in other ID-associated genes (ID group). To account for the potential impact of global cognitive impairment, a secondary comparison was made to an ability-matched subset of the ID group (low-ability ID group). RESULTS: The STXBP1 group demonstrated impairments across all assessed domains. In comparison to the ID group, the STXBP1 group had more severe global adaptive impairments, fine motor difficulties, and hyperactivity. In comparison to the low-ability ID group, severity of receptive language and social impairments discriminated the STXBP1 group. A striking feature of the STXBP1 group, with reference to both comparison groups, was preservation of social motivation. CONCLUSIONS: De novo mutations in STXBP1 are associated with complex and variable neurodevelopmental impairments. Consistent features, which discriminate this disorder from other monogenic causes of ID, are severe language impairment and difficulties managing social interactions, despite strong social motivation. Future work could explore the physiological mechanisms linking motor, speech, and social development in this disorder. Understanding the developmental emergence of behavioural characteristics can help to focus clinical assessment and management after genetic diagnosis, with the long-term aim of improving outcomes for patients and families. En ligne : https://dx.doi.org/10.1186/s11689-019-9278-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 17 p.[article] STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics [Texte imprimé et/ou numérique] / S. O'BRIEN, Auteur ; E. NG-CORDELL, Auteur ; Duncan E. ASTLE, Auteur ; G. SCERIF, Auteur ; K. BAKER, Auteur . - 17 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 17 p.
Mots-clés : Epilepsy Intellectual disability Language Stxbp1 Social Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with this genetic diagnosis. METHODS: To address this, we collected systematic phenotyping data encompassing neurological, developmental, and behavioural characteristics. Participants were 14 individuals with STXBP1-associated neurodevelopmental disorder, ascertained from clinical genetics and neurology services UK-wide. Data was collected via standardised questionnaires administered to parents at home, supplemented by researcher observations. To isolate discriminating phenotypes, the STXBP1 group was compared to 33 individuals with pathogenic mutations in other ID-associated genes (ID group). To account for the potential impact of global cognitive impairment, a secondary comparison was made to an ability-matched subset of the ID group (low-ability ID group). RESULTS: The STXBP1 group demonstrated impairments across all assessed domains. In comparison to the ID group, the STXBP1 group had more severe global adaptive impairments, fine motor difficulties, and hyperactivity. In comparison to the low-ability ID group, severity of receptive language and social impairments discriminated the STXBP1 group. A striking feature of the STXBP1 group, with reference to both comparison groups, was preservation of social motivation. CONCLUSIONS: De novo mutations in STXBP1 are associated with complex and variable neurodevelopmental impairments. Consistent features, which discriminate this disorder from other monogenic causes of ID, are severe language impairment and difficulties managing social interactions, despite strong social motivation. Future work could explore the physiological mechanisms linking motor, speech, and social development in this disorder. Understanding the developmental emergence of behavioural characteristics can help to focus clinical assessment and management after genetic diagnosis, with the long-term aim of improving outcomes for patients and families. En ligne : https://dx.doi.org/10.1186/s11689-019-9278-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409