title

تشخیصهای نورومتابولیک در بیماران ارجاعی باتاخیر تکاملی(2016)

کریم زاده, پروانه ، جعفری, نرگس ، نژاد بیگلری, حبیبه ، خیاط زاده, سیمین ، جبه داری, ساینا ، احمدآبادی, فرزاد ، لطفی, عذرا (1395) تشخیصهای نورومتابولیک در بیماران ارجاعی باتاخیر تکاملی(2016). Iranian journal of child neurology ــ 10 (3). ص.ص.73-81. شاپا 4668-1735

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آدرس اینترنتی رسمی : http://journals.sbmu.ac.ir/ijcn


عنوان انگليسي

Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients

خلاصه انگلیسی

Objective We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones. Materials & Methods The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests. The patients who completed our inclusion criteria as neuro metabolic disorders were evaluated in terms of metabolic and genetic study in referral lab. Results Overall, 213 patients with neurometabolic disorders were diagnosed. 54.3% of patients were male. The average age of patients was 41 +-46.1 months. 71.4% of parent’s patients had consanguinity of marriages. Eighty seven percent of patients had developmental delay (or/and) regression. 55.5% of them had different type of seizures. Overall, 213 patients with 34 different neurometabolic disorders were diagnosed and classified in the 7 sub classes, consisting of: 1- organic acidemia and aminoacidopathy (122 patients), 2-storage disease (37 patients) 3- eukodystrophy (27 patients), other classes consisted: lipid oxidation disorders, urea cycle disorders, progressive myoclonic epilepsy; and peroxizomal disorders (27 patients). Conclusion In patients with developmental delay or regression, with or without seizure, abnormal neurologic exam along with positive family history of similar disorder or relative parents, abnormal brain imaging with specific patterns, neurometabolic disorders should be considered as one of the important treatable diseases

نوع سند :مقاله
زبان سند : انگلیسی
نویسنده اول :پروانه کریم زاده
نویسنده مسئول :نرگس جعفری
نویسنده :حبیبه نژاد بیگلری
نویسنده :سیمین خیاط زاده
نویسنده :ساینا جبه داری
نویسنده :فرزاد احمدآبادی
نویسنده :عذرا لطفی
اطلاعات اضافی :Indexed in: Pubmed, Scopus, EMBASE, Index Copernicus,EBSCO,DOAJ, Google scholar SID, ISC, Iranmedex,Magiran,IranJournal
کلید واژه ها (انگلیسی):Neurometabolic,Development,Delay
موضوعات :W حرفه پزشکی
WD بیماریهای تغذیه و متابولیکی
WS بیماریهای کودکان
بخش های دانشگاهی :دانشكده پزشكي > گروه اطفال ، پزشکی اجتماعی
کد شناسایی :7685
ارائه شده توسط : دکتر فرزاد احمدآبادی
ارائه شده در تاریخ :28 تیر 1395 11:18
آخرین تغییر :28 تیر 1395 11:20

فقط پرسنل کتابخانه صفحه کنترل اسناد

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