تشخیصهای نورومتابولیک در بیماران ارجاعی باتاخیر تکاملی(2016)

کریم زاده, پروانه and جعفری, نرجس and نژاد بیگلری, حبیبه and خیاط زاده, سیمین and جبه داری, ساینا and احمدآبادی, فرزاد and لطفی, عذرا (1395) تشخیصهای نورومتابولیک در بیماران ارجاعی باتاخیر تکاملی(2016). Iranian Journal of Child Neurology ــ 10 (3). pp. 73-81. شاپا 1735-4668


Official URL: http://journals.sbmu.ac.ir/ijcn


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

English Abstract

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.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :پروانه کریم زاده
نویسنده مسئول :نرجس جعفری
نویسنده :حبیبه نژاد بیگلری
نویسنده :سیمین خیاط زاده
نویسنده :ساینا جبه داری
نویسنده :فرزاد احمدآبادی
نویسنده :عذرا لطفی
Additional Information:Indexed in: Scopus, PubMed/PMC, EMBASE
کلیدواژه ها (انگلیسی):Children; Clinical findings; Developmental delay; Neurometabolic disorders; Seizure
Subjects:W Health professions
WD Nutrition Disease and metabolic diseases
WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:7685
Deposited By: Dr Farzad Ahmadabadi
Deposited On:28 Apr 1395 11:18
Last Modified:14 Sep 1401 10:15

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