دانلود مقاله ISI انگلیسی شماره 40092
عنوان فارسی مقاله

ارتباط عامل نوروتروفیک مشتق از مغز با رفتار سازشی پایین تر و کاهش عملکرد شناختی در سندرم حذف WAGR / 11p13

کد مقاله سال انتشار مقاله انگلیسی ترجمه فارسی تعداد کلمات
40092 2013 11 صفحه PDF سفارش دهید محاسبه نشده
خرید مقاله
پس از پرداخت، فوراً می توانید مقاله را دانلود فرمایید.
عنوان انگلیسی
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome
منبع

Publisher : Elsevier - Science Direct (الزویر - ساینس دایرکت)

Journal : Cortex, Volume 49, Issue 10, November–December 2013, Pages 2700–2710

کلمات کلیدی
مغز مشتق عامل نوروتروفیک - سندرم WAGR - 11p حذف - IQ - اوتیسم
پیش نمایش مقاله
پیش نمایش مقاله ارتباط عامل نوروتروفیک مشتق از مغز با رفتار سازشی پایین تر و کاهش عملکرد شناختی در سندرم حذف WAGR / 11p13

چکیده انگلیسی

In animal studies, brain-derived neurotrophic factor (BDNF) is an important regulator of central nervous system development and synaptic plasticity. WAGR (Wilms tumour, Aniridia, Genitourinary anomalies, and mental Retardation) syndrome is caused by 11p13 deletions of variable size near the BDNF locus and can serve as a model for studying human BDNF haploinsufficiency (+/−). We hypothesized that BDNF+/− would be associated with more severe cognitive impairment in subjects with WAGR syndrome. Twenty-eight subjects with WAGR syndrome (6–28 years), 12 subjects with isolated aniridia due to PAX6 mutations/microdeletions (7–54 years), and 20 healthy controls (4–32 years) received neurocognitive assessments. Deletion boundaries for the subjects in the WAGR group were determined by high-resolution oligonucleotide array comparative genomic hybridization. Within the WAGR group, BDNF+/− subjects (n = 15), compared with BDNF intact (+/+) subjects (n = 13), had lower adaptive behaviour (p = .02), reduced cognitive functioning (p = .04), higher levels of reported historical (p = .02) and current (p = .02) social impairment, and higher percentage meeting cut-off score for autism (p = .047) on Autism Diagnostic Interview-Revised. These differences remained nominally significant after adjusting for visual acuity. Using diagnostic measures and clinical judgement, 3 subjects (2 BDNF+/− and 1 BDNF+/+) in the WAGR group (10.7%) were classified with autism spectrum disorder. A comparison group of visually impaired subjects with isolated aniridia had cognitive functioning comparable to that of healthy controls. In summary, among subjects with WAGR syndrome, BDNF+/− subjects had a mean Vineland Adaptive Behaviour Compose score that was 14-points lower and a mean intelligence quotient (IQ) that was 20-points lower than BDNF+/+ subjects. Our findings support the hypothesis that BDNF plays an important role in human neurocognitive development.

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