Academic Journal
Fragile X syndrome—From genes to cognition
| العنوان: | Fragile X syndrome—From genes to cognition |
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| المؤلفون: | Schneider, A., Hagerman, R.J., Hessl, D. |
| المصدر: | Developmental Disabilities Research Reviews ; volume 15, issue 4, page 333-342 ; ISSN 1940-5510 1940-5529 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2009 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | Fragile X syndrome (FXS), a single gene disorder with an expanded CGG allele on the X chromosome, is the most common form of inherited cognitive impairment. The cognitive deficit ranges from mild learning disabilities to severe intellectual disability. The phenotype includes hyperactivity, short attention span, emotional problems including anxiety, social avoidance, poor eye contact, and hyperarousal to sensory stimuli. Imaging studies in FXS have clarified the impact of the FMR1 mutation on brain development and function by documenting structural abnormalities, predominantly in the caudate nucleus and cerebellum, and functional deficits in the caudate, frontal‐striatal circuits, and the limbic system. On the basis of current research results, a targeted treatment for FXS will be available in the near future. Currently, a number of psychopharmacological agents are helpful in treating many of the problems in FXS including hyperactivity, attention deficits, anxiety, episodic aggression, and hyperarousal. Although the targeted treatments aim at strengthening synaptic connections, it is essential that these treatments are combined with learning programs that address the cognitive deficits in FXS. © 2009 Wiley‐Liss, Inc. Dev Disabil Res Rev 2009;15:333–342. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1002/ddrr.80 |
| الاتاحة: | http://dx.doi.org/10.1002/ddrr.80 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fddrr.80 https://onlinelibrary.wiley.com/doi/pdf/10.1002/ddrr.80 |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.DE8067B |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/ddrr.80 |
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