Cockayne Syndrome

How to Cite This Article: Javadzadeh M. Cockayne Syndrome. Iran J Child Neurol. Autumn 2014;8;4(Suppl.1):18-19.pls see pdf

Kearns-Sayre Syndrome

pls see PDF

Prenatal Diagnosis and Genetic Counseling for Niemann-Pick C Disease

How to Cite this Article: Javadzadeh M. Prenatal Diagnosis and Genetic Counseling for Niemann-Pick C Disease. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 22. Pls see pdf.

Ataxia in Childhood: Epidemiological, Clinical and Neuroradiologic Features, and the Risk of Recurrence

How to Cite This Article: Javadzadeh M, Hassanvand Amouzadeh M, Sadat Esmail Nejad Sh, Abasi E, Alipour A, Mollamohammadi M. Ataxia in Childhood:Epidemiological, Clinical and Neuroradiologic Features, and the Risk of Recurrence. Iran J Child Neurol.Summer 2017; 11(3):1-6.AbstractObjectiveThis study was conducted on the demographic data, clinical characteristics, electroencephalography, neuroradiological findings, and their impact on the recurrence of ataxia. Materials & MethodsA 3-yr retrospective review of 49 children with ataxia in Mofid Children Hospital, Tehran, Iran was conducted from Apr 2013 to Apr 2016.The demographic, clinical and paraclinical data were recorded in pre-preparedquestionnaires. The patients were also classified in two groups of with or without recurrence and the results were compared. The diagnostic etiologies in our patients were classified as brain tumor, drug ingestion, encephalitis, postinfectious immune-mediated disorders, pseudoataxia, trauma, congenital malformations of the central nervous system and hereditary ataxias. ResultsForty-nine children with ataxia were enrolled. The mean age of the patients with a recurrence of ataxia was more than those without a recurrence.Neurodevelopmental delay in patients with recurrence was more frequent than those without a recurrence. Abnormal findings in the neuroimaging were seen more in the patients with recurrence than those without recurrence. The most common cause of ataxia in patients with recurrence was hereditary ataxia and in patients without recurrence was a viral post infectious disorder. ConclusionAfter a mean follow-up period of 16.36 months (range: 2-37 months), 9 cases (18.4%) showed recurrence. Older age, abnormal neuroimaging, and neurodevelopmental delay should be considered as the risk factors of recurrence of ataxia in children. References1.Piña-Garza JE. Ataxia. In: Piña-Garza JE, editor. Fenichel’s clinical pediatric neurology. 7th ed. Philadelphia: Elsevier Saunders;2013.p.215-35.2.Konczak J, Timmann D. The effect of damage to the cerebellum on sensorimotor and cognitive function in children and adolescents. Neurosci Biohav Rev 2007; 31: 1101-1113.3.Jafar-Nejad P, Maricich SM, Zoghbi HU. The Cerebellum and the Hereditary Ataxias. In: Swaiman KF, Ashwal S, Ferriero DM, Schor NF, editors. Swaiman’s Pediatric Neurology. 5th ed. Philadelphia: Elsevier Saunders;2012.p.939-64.4.Mink JW. Movement Disorders. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, editors. Nelson Textbook of Pediatrics. 20th ed. Philadelphia: Elsevier;2016.p.2882-96.5.Musselman KE, Stoyanov CT, Marasigan R, Jenkins ME, Konczak J, Morton SM, et al. Prevalence of ataxia in children: a systematic review. Neurology 2014; 82(1):80-9.6.Martínez-González MJ, Martínez-González S, García-Ribes A, Mintegi-Raso S, Benito-Fernández J, Prats-Viñas JM. Acute onset ataxia in infancy: its aetiology, treatment and follow-up. Rev Neurol 2006; 42(6):321-4.7.Benini R, Ben Amor IM, Shevell MI.Clinical clues to differentiating inherited and noninherited etiologies of childhood ataxias. J Pediatr 2012; 160(1):152-7.8.Karimzadeh P, Ghofrani M. A Survey on 100 Children with Acute Ataxia in Mofid Children Hospital Tehran, Iran. Iran RJ 2003; 4(1):7-13.(Full Text in Persian)9.Farghaly WM, El-Tallawy HN, Shehata GA, Rageh TA, Hakeem NA, Abo-Elfetoh NM. Population-based study of acquired cerebellar ataxia in Al-Kharga district, New Valley, Egypt. Neuropsychiatr Dis Treat 2011; 7:183.10.Ryan MM, Engle EC. Acute ataxia in childhood. J Child Neurol 2003; 18(5):309-16.11.Nafissi S, Maghdouri A, Sikaroodi H, Hosseini SS. Epidemiology of Cerebellar Ataxia on the Etiological Basis: A Cross Sectional Study. Acta Medica Iranica 2009; 47(6):465-8.12.Esscher E, Flodmark O, Hagberg G, Hagberg B. Non-progressive ataxia: origins, brain pathology and impairments in 78 swedish children. Dev Med Child Neurol 1996; 38(4):285-96.13.Salman MS, Lee EJ, Tjahjadi A, Chodirker BN. The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada. Dev Med Child Neurol 2013; 55(4):341-7.14.Weiss S, Carter S. Course and prognosis of acute cerebellar ataxia in children. Neurology 1959; 9:711– 721.15.Teoh HL, Mohammad SS, Britton PN, Kandula T, Lorentzos MS, Booy R, et al. Clinical Characteristics and Functional Motor Outcomes of Enterovirus 71 Neurological Disease in Children. JAMA Neurol 2016; 73(3):300-7.16.Connolly AM, Dodson WE, Prensky AL, Rust RS. Course and outcome of acute cerebellar ataxia. Ann Neurol 1994; 35(6):673-9.   

Neuroimaging Findings in First Unprovoked Seizures: A Multicentric Study in Tehran

How to Cite This Article: Molla Mohammadi M, Tonekaboni SH, Khatami AR, Azargashb E, Tavasoli A, Javadzadeh M, Zamani GR. Neuroimaging Findings in First Unprovoked Seizures: A Multicentric Study in Tehran. Iran J Child Neurol. 2013 Autumn; 7(4):24-31.ObjectiveSeizure is an emergency in pediatrics. It really matters to the parents of the involved child to have information about the causes, management and prognosis.First unprovoked seizures (FUS) are seizures that occur in patients without fever, trauma or infection. Due to the rapid improvement in diagnostic techniques in the last few decades, the etiology will be revealed and this term will no longer exist. This Study was designed to evaluate brain imaging findings in FUS patients. Materials & MethodsNinety-six children with FUS, who were admitted in three major children’s hospitals in Tehran, underwent brain imaging and were enrolled into the study.The decision about the type of imaging (CT or MRI) was based on the patient’s medical and financial conditions. An expert radiologist in the field of pediatric neuroimaging interpreted the images. ResultsAltogether, 27.1% had abnormal findings of which 29.2% were in the brain MRI group and 14.3% were in the brain CT scan group.Abnormal results were gliosis (10.4%), hemorrhage (4.2%), dysgenesis (2.1%), dysmyelination (7.3%), encephalomalacy (1%), atrophy (5.2%) and infarction (2.1%). In some patients, the lesions were in 2 or 3 sites and some had more than one type of lesion.There was no association between the duration, age and type of seizure and imaging abnormlities. However, we found an association between the location of the lesion and the type of seizure. ConclusionWe recommend brain imaging in all patients with FUS and apart from some exceptions, brain MRI is superior to CT. ReferencesJohnston MV. Siezure in childhood. In: Kliegman RM, Behrman RE, editors. Nelson text book of pediatrics. 18th ed. Philadelphia: Saunders; 2010. p. 2457-70.Bluestein JS, Moshe SL. First unprovoked seizure. In: Maria BL, editor. Currents in management in child neurology. 3rd ed. Hamilton: BC Decker; 2005. p. 89-92.Khodapanahandeh F, Hadizadeh H. Neuroimaging in children with first afebrile seizures: to order or not to order? Arch Iran Med 2006 Apr;9(2):156-8.Alawaneh H, Bataineh HA. Urgent neuroimaging in children with first nonfebrile seizures. Middle East JFam Med 2008 Feb;6(1):24-6.Shinnar S, O’Dell C, Mitnick R, Berg AT, Moshe SL. Neuroimaging abnormalities in children with an apparent first unprovoked seizure. Epilepsy Res 2001 Mar;43(3):261-9.Kalnin AJ, Fastenau PS, deGrauw TJ, Musick BS, Perkins SM, Johnson CS, et al. Magnetic resonance imaging findings in children with a first recognized seizure. Pediatr Neurol 2008 Dec;39(6):404-14.King MA, Newton MR, Jackson GD, Fitt GJ, Mitchell LA, Silvapulle MJ et al. Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients. Lancet 1998 Sep 26;352(9133):1007-11.Pohlmann-Eden B, Beghi E, CarnfieldC, Carnfield P. The first seizure and its management in adults and children. BMJ 2006 Feb;332(11):339-34.Raman S, Susan K, Joyce W. Paroxysmal disorders.In: Menkes J, editor. Child neurology. 7th ed. Philadelphia: Lipincott; 2006. p. 857-942.Wical B. The first unprovoked seizure.Gillette Children’sSpecialty Healthcare. A PediatricPerspective 1999 Mar;8(3).Bano S, Yadav SN.Neuroimaging in epilepsy.Medi-Focus2010 Apr-Sep;9(3&4):2-4.Rauch DA,Carr E, Harrington J.Inpatient brain MRI for new-onset seizures: utility and cost effectiveness.Clin Pediatr (Phila) 2008 Jun;47(5):457-60.Gaillard WD, Chiron C, Cross JH, Harvey AS, Kuzniecky R, Hertz-Pannier L et al. Guidelines for imaging infants and children with recent-onset epilepsy. Epilepsia 2009 Sep;50(9):2147-53.Barkovich AJ. Techniques and methods in pediatric neuroimaging. 4thed. Philadelphia: Lippincott Williams &Wilkins; 2005. p. 4-7.Doescher JS, deGrauw TJ, Musick BS, Dunn DW, Kalnin AJ, Egelhoff JC et al. Magnetic resonance imaging and electroencephalic findings in a cohort of normal children with newly dignosed seizures. J Child Neurol 2006 Jun; 21(6):490-5. 

The relationship of Parental Pain Catastrophizing with Parents Reports of Children’s Anxiety, Depression and Headache Severity

Abstract:Introduction: Parental pain catastrophizing is a construct which is recognized to have a significant impact on experience and report of pain in both children and parents. The main aim of the current research is to investigate the probable relationship of parental pain catastrophizing with the parent reports of children’s anxiety, depression and headache severity amongst Iranian parents of children with chronic or recurrent headache.Method:In this study 212 parents (120 mothers and 92 fathers) of children with chronic or recurrent pain participated and completed the Pain Catastrophizing Scale; Numeric Pain Rating Scale, asking for the average of pain severity in last three months before the research, and the Anxiety and Depression subscales of the Children Behavioral Check List. Findings:The mean age of parents was 35.41 (SD= 5.58) and the mean age of children were 9.83 (SD= 2.77). A total of 72 girls and 60 boys participated in this study with a mean pain severity for headache in last three months before the research of 4.99 (SD=2.63). Probable sex differences according to pain catastrophizing, pain severity, anxiety and depression were assessed. In the next step, the predictability of pain severity from parental pain catastrophizing was evaluated. Results indicated a significant relationship in maternal pain catastrophizing and estimates of pain intensity by mothers.Conclusions:These findings represent the importance of parent’s cognitive factors affecting their reports of their children’s pain and related emotional disturbances

Hyperkinetic Movement Disorders in Children- A Brief Review

Movement disorders are common neurologic disturbances in childhood. There are two major types movement disorders. Hypokinetic disorders are with paucity of voluntary movements and are very uncommon in pediatric age group. Hyperkinetic movement abnormalities are very common in children and defined as abnormal repetitive involuntary movements. Movement disorders in childhood and even in adolescents are different in etiology, timing, treatment and prognosis versus adulthood movement abnormalities. In this brief article, we reviewed common types of hyperkinetic abnormal movements in children and adolescents with emphasis on etiologies, new classifications and recent treatment strategies.     

Moyamoya Syndrome Associated with Henoch-Schönlein Purpura

How to Cite This Article: Shiari R, Tabatabaei Nodushan SMH, Mohebbi MM, Karimzadeh P, Javadzadeh M. Moyamoya Syndrome Associated with Henoch-Schönlein Purpura. Iran J Child Neurol. Autumn 2016; 10(4):71-74.AbstractSome reports have shown the association between Moyamoya syndrome andautoimmune diseases. Herewith, we present a 3.5 yr old girl with Henoch-Schönleinpurpura (HSP) who was treated with steroids because of severcolicky abdominal pain. However, central nervous system manifestations suchas headache, ataxia and vision impairment developed during 6 months of heroutpatient follow-up. More evaluation using MRA revealed intracranial stenosisof internal carotid artery and arterial collaterals that were in favor of Moyamoyasyndrome. To our knowledge, this is the first report of Moyamoya syndromefollowing henoch-schönleinpurpura.References1. Aicardi J. Diseases of the nervous system in childhood, 2nd ed. London: Mac Keith Press, 1998. pp. 554–556.2. Currie S, Raghavan A, Batty R, Connolly DJ, Griffiths PD. Childhood moyamoya disease and moyamoya syndrome: a pictorial review. Pediatr Neurol 2011; 44:401–13.3. Suzuki J, Takaku A. Cerebrovascular, “moyamoya” disease. Disease showing abnormal net-like vessels in  base of brain. Arch Neurol 1969; 20:288–99.4. Smith ER, Scott RM. Spontaneous occlusion of the circle of Willis in children: pediatric moyamoya summary with proposed evidence-based practice guidelines. A review. J Neurosurg Pediatr. 2012 Apr;9(4):353-60.5. Ozen S, Ruperto N, Dillon MJ, Bagga A, Barron K, Davin JC, et al. EULAR/PReS endorsed consensus criteria for the classification of childhood vasculitides. Ann Rheum Dis. 2006; 65(7): 936-941.6. Gardner-Medwin JM, Dolezolova P, Cummins C, Southwood TR. Incidence of Henoch-Schonleinpurpura, Kawasaki disease, and rare vasculitides in children of different ethnic origins. Lancet. 2002; 360: 1197-1202.7. Aalberse J, Dolman K, Ramnath G, Periera RR, Davin JC. Henoch-Schönleinpurpura in children: an epidemiological study among Dutch paediatricians on incidence and diagnostic criteria. Ann Rheum Dis. 2007; 66(12): 1648-1650.8. Saulsbury FT. Henoch-Schönleinpurpura in children. Report of 100 patients and review of the literature. Medicine (Baltimore). 1999; 78(6): 395-409.9. Tarvin SE, Ballinger S. Henoch-Schonleinpurpura. Current Paediatrics. 2006; 16: 259-263.10. Cahide Y, Hu¨seyin, Şükrü Arslan C et al. Bilateral brachial plexopathy complicating henoch-schönleinpurpura. Brain & Development 28 (2006) 326–328.11. Bellman AL, Leicher CR, Moshe SL, Mezey AP. Neurologic manifestations of henoch–schönleinpurpura: Report of three cases and review of the literature. Pediatrics 1985; 75:687-92.12. Reza Shiari. Neurologic Manifestations of Childhood Rheumatic Diseases. Iran J Child Neurol 2012; 6(4): 1-7.13. Lee YJ, Yeon GM, Nam SO, Kim SY. Moyamoya syndrome occurred in a girl with an inactive systemic lupus erythematosus. Korean J Pediatr 2013; 56(12): 545–549.14. Seol HJ, Wang KC, Kim SK, Hwang YS, Kim KJ, Cho BK. Headache in pediatric moyamoya disease: review of 204 consecutive cases. J Neurosurg 2005; 103: Suppl: 439-42.15. Suzuki J, Kodama N. Moyamoyadisease — a review. Stroke 1983; 14:104-9.16. Baba T, Houkin K, Kuroda S. Novel epidemiological features of moyamoya disease. J Neurol Neurosurg Psychiatry 2008; 79:900-4.17. Tanghetti B, Capra R, Giunta F, Marini G, Orlandini A. Moyamoya syndrome in only one of two identical twins: case report. J Neurosurg 1983; 59:1092-4.18. Guey S, Tournier-Lasserve E, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. Appl Clin Genet 2015; 8: 49–68.19. Scott RM, Smith JL, Robertson RL, Madsen JR, Soriano SG, Rockoff MA. Long-term outcome in children with moyamoya syndrome after cranial revascularization by pialsynangiosis. J Neurosurg 2004; 100: Suppl: 142-9.20. Lubman DI, Pantelis C, Desmond P, Proffitt TM, Velakoulis D. Moyamoya disease in a patient with schizophrenia. J Int Neuropsychol Soc 2003; 9:806-10.21. Smith ER, Scott RM. Moyamoya Disease and Moyamoya Syndrome. N Engl J Med 2009; 360:1226-37.22. Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. Guidelines for diagnosis and treatment of moyamoya disease Neurol Med Chir (Tokyo) 2012; 52(5):245–266.23. Fung LW, Thompson D, Ganesan V. Revascularisation surgery for paediatricmoyamoya: a review of the literature. Childs Nerv Syst 2005; 21(5):358–364

Assessment of Performance Index of Emergency Department in a Hospital in Tehran, Iran

Background: Evaluating and monitoring the performance of emergency departments (EDs) are steps in one of the most important processes to improving the efficiency of hospitals. Indicators such as patient wait time until being visited by a doctor, patient wait time from the order until admission, percentage of patients with a determined order, time of conversion of a patient’s condition, time of physical exit of discharged patients from ED, percentage of discharge with personal responsibility, and percentage of unsuccessful cardiopulmonary resuscitation (CPR) have been used for this measurement.Objective: The current study compared performance indicators in Baqiyatallah Hospital from December 2011 to June 2015.Methods: For this cross-sectional, retrospective study, the study population contained completed checklists of performance indicators in Baqiyatallah Hospital’s ED from December 2011 to June 2015. Five indicators were selected and analyzed using SPSS software and χ2 and analysis of variance (ANOVA) tests.Results: The mean ED performance indicators showed that 71.72% ± 13.29 of patients were determined within 6 hours, 57.53% ± 27.54 were discharged within 12 hours of ED admission, 63.36% ± 12.74 had unsuccessful CPR, 4.57% ± 0.84 left the ED with personal responsibility, mean duration of triage level 1 was 1 minute ± 0.55, mean duration of triage level 2 was 2.83 minutes ± 0.48, mean duration of triage level 3 was 8.58 ± 13.09 minutes, mean duration of triage level 4 was 19.24 minutes ± 13.24, and mean duration of triage level 5 was 40.53 minutes ± 11.66. Statistical analysis of the results showed significant differences in all indicators.Conclusion: The general performance of the Baqiyatallah Hospital ED was estimated to be favorable, and the general process of change during the study was positive compared to previous years; however, the level and quality of services can be increased through some proposed means

Prediction of response to treatment in children with epilepsy

Objective: Predicting the response to treatment in patients treated  with anti-epilepsy drugs are always a major challenge. This study was conducted to predict the response to treatment in patients with epilepsy.Material and Methods: This analytical questionnaire-based study was conducted in 2014 among patients with epilepsy admitted to Mofid Children's Hospital. The inclusion criteria were children 2 months to 12 years of age with epilepsy and patients who experienced fever and seizure attacks at least once were excluded from the study. After the initial recording of patient information, patients were followed up for 6 months and the response to their treatment was recorded. The response to good treatment was defined as the absence of maximum seizure with two drugs during follow up.Result: This study was conducted among 128 children with seizure. 72 patients (56.3%) were boys. The age of the first seizure was under 2 years old in 90 patients (70.3%). History of febrile convulsion, family history of seizure and history of asphyxia was found in 16 patients (12.5%), 41 patients (32%), 27 (21.1%), respectively.  IQ was decreased in 79 patients (61.7%). Seizure etiology was idiopathic in 90 patients (70.3%), and the number of seizures was 1 - 2 in 36 patients (28.1%). 57 patients (44.5%) had cerebral lesion according to CT scan or MRI, and EEG was normal in 21 patients (16.4%) and abnormal in 101 patients (78.9%). In 6-month follow-up, 40 patients (31.3%) responded well to the treatment and 88 patients (68.8%) responded poorly to the treatment. The results of multivariate analysis demonstrated that history of asphyxia (OR = 6.82), neonatal jaundice (OR = 2.81) and abnormal EEG (OR = 0.19) were effective factors in response to treatment.Conclusion: Results of univariate and multivariate analysis indicated that abnormal EEG is an effective factor in treatment response in the children studied