دورية أكاديمية
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
| العنوان: | Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome |
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| المؤلفون: | Emma K. Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M. Kraan, Minh Bui, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael J. Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler |
| المصدر: | Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019) |
| بيانات النشر: | BMC |
| سنة النشر: | 2019 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | Fragile X syndrome, Mosaicism, Autism spectrum disorder, Intellectual functioning, Behaviour, Phenotype, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571 |
| الوصف: | Background Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM: CGG 55–199) alleles in the same individual have been associated with better cognitive functioning. This study compares age- and sex-matched FM-only and PM/FM mosaic individuals on intellectual functioning, ASD features and maladaptive behaviours. Methods This study comprised a large international cohort of 126 male and female participants with FXS (aged 1.15 to 43.17 years) separated into FM-only and PM/FM mosaic groups (90 males, 77.8% FM-only; 36 females, 77.8% FM-only). Intellectual functioning was assessed with age appropriate developmental or intelligence tests. The Autism Diagnostic Observation Schedule-2nd Edition was used to examine ASD features while the Aberrant Behavior Checklist-Community assessed maladaptive behaviours. Results Comparing males and females (FM-only + PM/FM mosaic), males had poorer intellectual functioning on all domains (p < 0.0001). Although females had less ASD features and less parent-reported maladaptive behaviours, these differences were no longer significant after controlling for intellectual functioning. Participants with PM/FM mosaicism, regardless of sex, presented with better intellectual functioning and less maladaptive behaviours compared with their age- and sex-matched FM-only counterparts (p < 0.05). ASD features were similar between FM-only and PM/FM mosaics within each sex, after controlling for overall intellectual functioning. Conclusions Males with FXS had significantly lower intellectual functioning than females with FXS. However, there were no significant differences in ASD features and maladaptive behaviours, after controlling for intellectual functioning, independent of the presence ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1866-1947 1866-1955 |
| العلاقة: | https://doi.org/10.1186/s11689-019-9288-7Test; https://doaj.org/toc/1866-1947Test; https://doaj.org/toc/1866-1955Test; https://doaj.org/article/e05c1a167cbd4ce9a6910a82c9dd4958Test |
| DOI: | 10.1186/s11689-019-9288-7 |
| الإتاحة: | https://doi.org/10.1186/s11689-019-9288-7Test https://doaj.org/article/e05c1a167cbd4ce9a6910a82c9dd4958Test |
| رقم الانضمام: | edsbas.1C9C79E9 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 18661947 18661955 |
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| DOI: | 10.1186/s11689-019-9288-7 |