[article]
| 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 |
in Journal of Neurodevelopmental Disorders > 14 (2022)
[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 |
|  |
Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description in Journal of Neurodevelopmental Disorders, 14 (2022)
