Approach to Mental Retardation and Global Developmental Delay

ObjectiveMental Retardation (MR) or Intellectual Disability is one of three chronic and disabling neurological disorders of children and adolescents. Its prevalence is estimated 1-3% of the population. MR is defined as significant sub-average intellectual functioning and adaptive behavior that become detectable before the age of 18. MR may come into view before 5 years as delay in at least two developmental domains which is called Global Developmental Delay (GDD).The causes of mental retardation can be considered under the titles of prenatal, perinatal and postnatal factors. Prenatal causes account for approximately 60 -80 % of the etiological factors. All patients with GDD / MR should undergo a stepwise diagnostic approach, because a specific diagnosis leads to opportunity for treatment, future planning and genetic counseling. History, physical examination and neurodevelopmental examinations are the most important parts of the approach. Recent advances in cytogenetic investigations and neuroimaging studies have led to recognition of new disorders and improvement of the diagnostic yield.Keywords: Mental retardation ; global developmental delay; diagnostic yield

Differential Diagnosis of Organic Acidemia: Clinical and Neuroimaging Findings

Clinical differential DiagnosisThe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child.A-Organic aciduriaSeveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis.• Mevalonicaciduria, a disorder of cholesterol biosynthesis, shows mevalonic acid in the urine.• Glutaricacidemia type II, a disorder of fatty acid oxidation, has multiple organic acids in abnormal concentration in urine. These organic acids include ethylmalonic acid, glutaric acid, dicarboxylic acids, and glycine conjugates of medium chain dicarboxylic acids.• The fatty acylCoA-glycine conjugates that signal incomplete fatty acid oxidation and serves as signals to the diagnosis of MCAD defeciency and other disorders of fatty acid oxidation and transport.• Biotinidase deficiency, a disorder of biotin recycling, results in the urinary excretion of several unusual organic acids, including 3-hydroxy-isovaleric, 3-hydroxypropionic, 3-hydroxybutyric acids, and acetoacetate. Propionyl glycine may also be seen.• Mitochondrial diseases with disordered oxidative phosphorylation often demonstrate the presence of abnormal organic acids in the urine.B-AcidosisNon-genetic conditions, such as shock, sepsis, DKA, liver and kidney failure, thiamine deficiency, RTA, some drug intoxication cause acidosis- genetic conditions are include: inherited metabolic disorders of lactate and pyruvate metabolism and oxidative phosphorylation, disorders of the Krebs cycle such as fumarase deficiency.C-HyperammonemiaDisorders of the urea cycle and the hyperammonemia-hypoglycemia syndrome.Neuroimaging• A variety of MRI abnormalities have been described in the organic academia, including distinctive basal ganglia lesions in glutaricacidemia type I (GA I), white matter changes in maple syrup urine disease (MSUD), and abnormalities of the globus pallidus in methylmalonic acidemia. Macrocephaly is common in GA I.• Some differential agnosis of MRI findings in organic academia is consist of: HIE, mucopolysacaridosis, middle fossa arachnoid cyst, leighdisease, hexachlorophene toxicity in neonates, myelin splitting disorders.• Some organic aciduria such as L-2-Hydroxyglutaricaciduria may suggest leukodystrophy in MRI

Cystic leukoencephalopathy

How to Cite this Article: Ashrafi MR, Tavasoli AR. Cystic leukoencephalopathy. Iran J Child Neurol. Autumn 2014; 8:4(suppl. 1):3-4.Pls see pdf

Infantile-Onset Pompe Disease

  How to Cite this Article: Ashrafi MR, Tavasoli AR. Infantile-Onset Pompe Disease. Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):7-9. Pls see PDF. References: 1. Kishnani PS, Steiner RD. Pompe disease diagnosis and management guidelines. American J med genetic. 2006 .Vol; 8; no5. 2. Case SE, Beckemyer AA. Infantile pompe disease on ERT-Updateonclinicalpresentation,musculoskeletal management, and Exercise considerations. American J med genetic.160C:69-79(2012). 3. Rocco MD,Buzzi D. Glycogen storage disease type II:clinical overview. Acta myologica. 2007; XXVI; P.42-44. 4. Fenichel GM.Clinical pediatric neurology. Sixth edition.2009; p.174,188. 5.Swaiman KF, Ashwal S. Swaimans’  pediatric neurology. Fifth edition .2012 .Vol.1,p.378-380.      

How We Can Put Forward the Diagnosis of NPC Disease: Suspicion Index

How to Cite this Article: Ashrafi MR, Tavasoli AR. How We Can Put Forward the Diagnosis of NPC Disease: Suspicion Index. Iran J Child Neu rol. 2015 Autumn;9:4(Suppl.1): 2-4.Pls see pdf.

Mitochondrial Disorders: Clinical, Pathologic and Genetic Classification

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Eye see cam Video -Oculography (VOG): A New Method for Diagnosis and Following of NPC Patients

How to Cite This Article: Tavasoli AR, Ashrafi MR. Eye see cam Video –Oculography (VOG): A New Method for Diagnosis and Following of NPC Patients . Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 26.Pls see pdf

Sleep Inducing for EEG Recording in Children: A Comparison between Oral Midazolam and Chloral Hydrate

How to Cite This Article: AshrafiMR, Azizi Malamiri R, Zamani GR, Mohammadi M, Hosseini F. Sleep Inducing for EEG Recording in Children: A Comparison between Oral Midazolam and Chloral Hydrate. Iran J Child Neurol. 2013 Winter;7(1):15-19.ObjectiveElectroencephalography (EEG) recording is a long duration procedure that needs patient’s cooperation for device setup and performing the procedure. Many children lose their cooperation during this procedure. Therefore, sedation and sleep are frequently induced using a few agents as pre procedure medication in children before EEG recording. We aimed to compare the sedative effects of oral midazolam versus chloral hydrate before the procedure along with their impacts on EEG recording in children.Materials & MethodsA randomized trial was carried out to compare the sedative effects of oral midazolam versus chloral hydrate and their impacts on EEG recording in children. A total of 198 children (100 in the midazolam group and 98 in the chloral hydrate group) were enrolled in the study and randomly allocated to receive either oral moidazolam or chloral hydrate.ResultsOral midazolam had superiority neither in sleep onset latency nor in sleep duration when compared to chloral hydrate. Moreover, the yield of epileptiform discharges in the chloral hydrate group was more than the midazolam group.ConclusionThe results of this study showed that both chloral hydrate 5% (one ml/kg) and oral midazolam (0.5 mg/kg) could be administered as a pre medication agent for EEG recording in children. However, oral midazolam at this dose had no advantage compared with chloral hydrate.ReferencesAshrafi MR, Mohammadi M, Tafarroji J, Shabanian R, Salamati P, Zamani GR. Melatonin versus chloral hydrate for recording sleep EEG. Eur J Paediatr Neurol 2010;14(3):235-8.Slifer KJ, Avis KT, Frutchey RA. Behavioral intervention to increase compliance with electroencephalographic procedures in children with developmental disabilities. Epilepsy Behav 2008;13 (1):189-95.Gauillard J, Cheref S, Vacherontrystram MN, Martin JC. [Chloral hydrate: a hypnotic best forgotten?]. Encephale 2002;28(3 Pt 1):200-4.Cote CJ, Karl HW, Notterman DA, Weinberg JA, McCloskey C. Adverse sedation events in pediatrics: analysis of medications used for sedation. Pediatrics 2000;106(4):633-44.Greenblatt DJ, Ehrenberg BL, Culm KE, Scavone JM, Corbett KE, Friedman HL, et al. Kinetics and EEG effects of midazolam during and after 1-minute, 1-hour, and 3-hour intravenous infusions. J Clin Pharmacol 2004;44(6):605-11.Gurakan F, Yuce A, Ozen H, Saltic IN. Midazolam and pethidine for the sedation of children undergoing gastrointestinal endoscopy. Crit care med 2000;28(6):2176-7.Karl HW, Cote CJ, McCubbin MM, Kelley M, Liebelt E, Kaufman S, et al. Intravenous midazolam for sedation of children undergoing procedures: an analysis of age- and procedure-related factors. Pediatr Emerg Care 1999;15(3):167-72.Lightdale JR, Mitchell PD, Fredette ME, Mahoney LB, Zgleszewski SE, Scharff L, et al. A Pilot Study of Ketamine versus Midazolam/Fentanyl Sedation in Children Undergoing GI Endoscopy. Int J Pediatr 2011; 2011:623710.Massanari M, Novitsky J, Reinstein LJ. Paradoxical reactions in children associated with midazolam use during endoscopy. 1997;36(12):681-4.Scott RC, Besag FM, Boyd SG, Berry D, Neville BG. Buccal absorption of midazolam: pharmacokinetics and EEG pharmacodynamics. Epilepsia 1998;39(3):290-4.Loewy J, Hallan C, Friedman E, Martinez C. Sleep/sedation in children undergoing EEG testing: a comparison of chloral hydrate and music therapy. Am J electroneurodiagnostic technol 2006;46(4):343-55.Rodriguez E, Jordan R. Contemporary trends in pediatric sedation and analgesia. Emerg Med Clin North Am 2002;20(1):199-222.Sisson DF, Siegel J. Chloral hydrate anesthesia: EEG power spectrum analysis and effects on VEPs in the rat. Neurotoxicol Teratol 1989;11(1):51-6.Thoresen M, Henriksen O, Wannag E, Laegreid L. Does a sedative dose of chloral hydrate modify the EEG of children with epilepsy? Electroencephalogr Clin Neurophysiol 1997;102(2):152-7

The Efficacy and Safety of Tizanidine in Treating Spasticity in Children with Cerebral Palsy

ObjectiveSpastic cerebral palsy (CP) is one of the most difficult and disabling conditions that requires medical attention and treatment. The aim of this study was to assess the efficacy and safety of oral tizanidine in treating spasticity in children with spastic CP.Materials & MethodsSixty children with spastic cerebral palsy were enrolled in a double-blind, placebo-controlled, randomized clinical trial. These patients were randomly assigned to receive tizanidine or a matching placebo. Sample normalization was not performed either before or after the study in these two separate groups. Nevertheless, no significant statistical difference was found between the two concerned groups in terms of age, sex, or type of spasticity. Each patient received the treatment for 2 weeks between May 2010 and February 2011.ResultsThirty-one boys and 29 girls with a mean age of 7.3 ± 3.4 years were evaluated. Our study revealed that spasticity was reduced in 50% of the patients receivingthe drug tizanidine compared to only 6.7% of the patients receiving the placebo. Additionally, 66.7% of patients reported less pain on the affected side receivingtizanidine (group A) compared to 13.3% of patients receiving the placebo (group B). No serious side effects were reported in this study.ConclusionTizanidine is effective and safe in decreasing the spastic hypertonia associated with cerebral palsy in children.Keywords: Tizanidine; spasticity; cerebral palsy; children