title: Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients).
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.
  
  
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Pediatric Neurology Research Center, ShahidBeheshti University of Medical Sciences, Tehran, Iran ; Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine, ShahidBeheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Karimzadeh
authors.affiliation: Pediatric Neurology Research Center, ShahidBeheshti University of Medical Sciences, Tehran, Iran ; Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine, ShahidBeheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Narjes
authors.initials: N
authors.lastname: Jafari
authors.affiliation: Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine, ShahidBeheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Habibeh
authors.initials: H
authors.lastname: Nejad Biglari
authors.affiliation: Pediatric Neurology Research Center, ShahidBeheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Sayena
authors.initials: S
authors.lastname: Jabbehdari
authors.affiliation: Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine, ShahidBeheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Simin
authors.initials: S
authors.lastname: Khayat Zadeh
authors.affiliation: Pediatric Neurologist, Ardabil University of Medical Sciences, Ardabil, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Ahmad Abadi
authors.affiliation: Pediatric Neurology Research Center, ShahidBeheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Azra
authors.initials: A
authors.lastname: Lotfi
keywords: Children; Clinical findings; Developmental delay; Neurometabolic disorders; Seizure