Iranian Journal of Child Neurology
Year:2019 | Volume:13 | Issue:1|Papers Count:13

Gaucher disease (GD) is a rare inherited metabolic disorder and the most common lysosomal storage disorder, caused by a deficiency in glucocerebrosidase enzyme activity. It has been classified according to the neurological manifestations into three types: type 1, without neuropathic findings, type 2 with acute infantile neuropathic signs and type 3 or chronic neuropathic form. However, report of new variants has led to the expansion of phenotype as a clinical phenotype of GD considered as a continuum of phenotypes. Therefore, it seems that a new classification is needed to cover new forms of the disease.

Objectives This study aimed to translate the Affordance in the Home Environment for Motor Development (AHEMD) scales (3-18 months (IS) and 18-42 month (SR) versions) into Persian and examine its cultural adaptation and psychometric properties. Materials & Methods Four stages process was conducted as translation of the questionnaires (use of International Quality of Life Assessment protocol), cultural adaptation, and determination of its psychometric properties. Qualitative judgments were provided by 11 experts and 30 mothers for interview sessions. Quantitative data were gathered using 212 mothers. Results For the is version, validity values ranged from 0. 63 to 0. 95. Intraclass correlation coefficient for reliability of total score was 0. 87 (0. 83-0. 97) and was Cronbach’ s alpha (0. 75). Validity for the AHEMD-SR ranged from 0. 63 to 0. 90, with reliability for total score of 0. 98 (0. 98-0. 99, ICC). Cronbach’ s alpha for this version was 0. 84. Correlations with SES were significant for both scales: IS (r = 0. 40) and AHEMDSR (r = 0. 42). Conclusion Both translated versions of the AHEMD were valid and reliable assessments of the home environment of Iranian young children.

Objectives Cyclic vomiting syndrome (CVS) is a chronic functional gastrointestinal disorder with no certain treatment. We aimed to compare the efficacy of amitriptyline and topiramate on prophylactic therapy of CVS. Materials and Methods Thisrandomizedclinicaltrial(registrationnumber: IRCT2015102316844N2) was conducted during 2016 in Isfahan, central Iran. The inclusion criteria were CVS patients (based on Rome III) aging 3-15 yr with normal physical examination, no metabolic disorder, and no gastrointestinal obstruction or renal impairment. Recruited patients were divided into two groups of amitriptyline (1 mg/kg/d) and topiramate (1-2 mg/kg/d) and were followed for 3-months. The outcome was evaluated by comparing severity of attacks (monthly frequency and duration of attacks) before and after intervention. Results Thirty-six children entered each group and two patients left the amitriptyline group. Patients and disease characteristics were similar between groups before intervention (P>0. 05). The frequency of attacks (standard deviation) after intervention in amitriptyline and topiramate group was 0. 91 (0. 40) and 1. 07 (0. 55), respectively (P=0. 368) and the duration of attacks (SD) after intervention were 3. 43 (2. 46) and 4. 90 (3. 03), respectively (P=0. 017). Twenty-three patients (68%) in amitriptyline group and 14 patients (39%) in topiramate group stopped having attacks after intervention (P=0. 016). Conclusion Amitriptyline is a better choice to reduce severity of CVS attacks compared to topiramate, in a short-term evaluation. Studies with longer follow-up are required to investigate these findings in a longer period.

Objectives Delayed umbilical cord clamping (DCC) increases blood transfer to newborns. Hence we investigated the effect of the timing of DCC on hemoglobin levels, neonatal outcomes and developmental status in infants at four months old. Materials & Methods This clinical trial examined infants born to 400 pregnant women immediately upon birth and at the age of four months in Isfahan, central Iran in 2016. A table of random numbers was used to randomly allocate the newborns to intervention group with a 90-120-sec delay in umbilical cord clamping and the control group with a clamping delay of below 60 sec, and blood samples were taken from their umbilical cords. The Ages and Stages Questionnaire was used to evaluate the infants’ developmental status. Results Umbilical cord hemoglobin was significantly higher in the intervention group compared to in the controls (P=0. 024). No significant differences were observed between the two groups in terms of neonatal complications except neonatal jaundice was significantly more common in the intervention group (P=0. 025), although the need for phototherapy was not different between the groups. Overall, no significant differences were observed between the two groups in terms of developmental status at four months old; however, the infants had better problem-solving skills in the DCC group (P=0. 015). Conclusion Despite elevating hemoglobin, DCC has no effects on infant development except in terms of problem-solving skills. Further studies are recommended on the effects of DCC on infant development.

Objective We aimed to investigate the risk factors of febrile status epilepticus (FSE) in children. Materials & Methods This analytic case-control study was conducted on all patients’ records with first febrile seizure (FS) admitted to 17 Shahrivar Hospital, Rasht, Iran during 2007-2014. Cases were children aged 6 to 60 months with FSE and controls were children with complex and simple FS. Data were gathered using a checklist including age, sex, type of milk consuming during first year, temperature, the interval between fever and seizure, family history of epilepsy and febrile seizure, and prematurity. Data were analyzed using Chi-square in SPSS 19. Results Overall, 756 patients with FS participated including 39 patients with FSE, 194 complex febrile seizure (CFC) and 523 simple febrile seizure (SFC). Most of the patients (57. 8%) experienced seizure with low-grade fever (<39 ° C). The mean age in SFC group was significantly higher than FSE patients (P<0. 05). A significant relation was noted between groups regarding body temperature during seizure (P=0. 006), family history of FS (0. 029), family history of epilepsy (P=0. 042) and the premature birth (P=0. 023). Significant relation was noted between FSE and CFC groups regarding body temperature during seizure (P=0. 004), family history of FS (0. 011), family history of epilepsy (P=0. 037), and the premature birth (P=0. 025) between FSE and CFC groups. Conclusion Considering risk factors of FSE including low body temperature, lower age, family history of FS and epilepsy, and premature birth is mandatory.

Objectives Stroke is a sudden blockage or rupture of brain vessels resulting neural defect or impairment. We aimed to investigate the incidence and causes of stroke in hospitalized children (Tehran-Iran, 2008-2013). Materials & Methods This case series study was carried out in pediatric ward of tertiary care Vali-Asr Hospital, Imam Khomeini Hospitals Complex (Tehran-Iran) from 2008 to 2013. One month to 15 yr old admitted children due to stroke were enrolled into this case series study. Diagnosis was confirmed with brain imaging. Participants’ demographic data, potential risk factors and neuroimaging findings were obtained from Hospital Reporting System. Recorded data were studied and considered regarding the incidence of stroke and its causes. Indeed we investigated cardiological causes as well as different items related to hematological disorders. Results Of 20000 admitted subjects in Imam Hospital during 5 yr, stroke was diagnosed in 15 cases. The incidence among the population study was 0. 75 per 100000 children. Stroke was more frequent in males than females (). The most common age of stroke was 4-6 yr and the mean age of stroke was 58. 8 months equal to 4. 9 year. The most frequent stroke was hemorrhagic stroke (26%), followed by vascular (20%) and coagulopathy disorders (20%). Conclusion The incidence of stroke in children was 0. 75 per 100000. Hemorrhagic stroke due to major trauma, coagulopathy and vasculopathy were observed as most frequent causes that necessitate implementing some strategies for prevention, earlier diagnosis, and treatment.

Objectives We aimed to compare the level of significance of risk factors related Intraventricular hemorrhage (IVH) between preterm infants born after IVF and non-IVF conceptions. Materials & Methods This historical cohort study was done in four Iranian Hospitals in 2013-2014. Overall, 155 preterm newborns were divided into case (IVF) and control (normal conception) groups. Both groups’ demographic data were extracted and recorded. The incidence of IVH and its grades were compared between case and control groups. Significant related risk factors were also considered. Results No differences were observed between 2 groups except for gestational age and mode of delivery. The incidence of IVH especially grades II and III were significantly higher in the case group (P=0. 003). Results showed no correlations between Gestational age (GA), birth weight and number of gestations with the incidence of IVH in the case group (0. 059, 0. 85 and 0. 49, respectively). On the other hand, among GA, birth weight and number of gestations; multi gestations (P=0. 0001) was an effective risk factor for IVH occurrence in the controls. Conclusion The incidence of IVH in the IVF group was significantly higher than in the non-IVF group. IVF as an independent risk factor may cause high-grade IVH; however, in the controls, multi gestational pregnancy (P=0. 0001) was an effective risk factor for IVH occurrence.

Objectives Sometimes there is no hearing impairment, but it is possible to have an auditory disorder. This is known as a central auditory processing disorder (CAPD). Speech dichotic tasks are useful tools to evaluate CAPD, but there is almost no tool to assess this for Azeri people in their native language. The aim of this study was to evaluate central auditory processing of Azeri participants by Azeri dichotic digit test (ADDT). Materials & Methods Participants were 52 normal Iranian Azeri students (mean age 23. 27± 4. 71; 26 females, 26 males) in the Department of Audiology, School of Rehabilitation Sciences, Iran University of Medical Science, Tehran, Iran in 2016. They were chosen by convenient sampling. ADDT was constructed and administered in free recall conditions along with a Persian dichotic digit test (PDDT). After two to four weeks, reliability was performed. Results The mean of the right ear score of PDDT and ADDT was 98. 90% and 99. 09%, respectively. ADDT was reliable in almost all scores. There was no significant difference in performance between men and women in any score of both tests (P>0. 05). The results showed a significant difference between both ears’ scores in PDDT (P<0. 02) as well as in ADDT (P=0. 00). The right ear advantage was seen in both tests. Conclusion All participants performed significantly better on digits presented in the right ear than the left ear in both tests. Central auditory processing of Azeri participants for Azeri is similar to that for Persian.

Objectives People with epilepsy generally encounter misconceptions and negative attitudes on different aspects of the disease. They are also prone to physical injuries during seizures. Lack of awareness about first-aid measures results in taking inappropriate first-aid measures. We aimed to determine the public awareness, attitudes, and firstaid measures about epilepsy in Tehran. Materials & Methods This population-based cross-sectional survey was conducted from Dec 2016 to May 2017 in Tehran, Iran. Random stratified cluster sampling was used. Data were collected through interviews using a questionnaire. The awareness section included general awareness, causes, symptoms, seizure triggers, first-aid measures, and recommended treatments. The Likert scale was used for the attitudes section which included 20 statements. The answers about first-aid measures were categorized as helpful, or harmful. Results Overall, 833 adults participated in the survey. The level of total awareness score of 41 (4. 9%) participants was very good, 194 (23. 3%) good, 255 (30. 6%) fair, 210 (25. 2%) low, and 133(16. 0%) very low. The mean (SD) score about general awareness was 4. 6 (3. 0), range=0 to 11; causes 5. 8 (3. 4), range=0 to 13; symptoms of seizures 7. 0 (4. 0), range=0 to 13; first-aid measures 7. 5 (3. 4), range=0 to 14. Among all participants, 260 (31. 2%), named at least one superstitious cause for epilepsy. Attitudes were generally positive except for marriage and having kids. The level of first-aid measures score of 74(42. 5) was very good, 79(45. 4) good, and 21(12. 1) low. Conclusion The awareness of people of Tehran about epilepsy was insufficient, attitudes were generally positive but rather conservative, and first-aid measures at the last witnessed seizure were fairly helpful.

Cerebellar acute ischemic stroke (CAIS) can be a complication of minor head trauma, vertebral artery dissection, vasospasm or systemic hypoperfusion. CT scan usually is negative few hours after acute infarction. Magnetic resonance imaging (MRI) is superior to CT scan for posterior fossa lesions and also in acute phase of cerebellar stroke especially in children. Here we report a 9-year-old girl referred to the Pediatric Emergency Room, Moosavi Hospital, Zanjan, Iran in January 2017 presenting with sudden onset of headache and recurrent vomiting, ataxia, and history of 3 consecutive days of fever and malaise. In the report of MRI, there were abnormal low T1 and high T2 signal intensity in left cerebellar hemisphere involving superior and middle cerebellar peduncles. After 4 days of admission, the patient became drowsy, symptoms progressed and transferred to the pediatric intensive care unit (PICU). The patient underwent hemispherectomy surgery of the left cerebellar hemisphere because of acute obstructive hydrocephaly. After 5 months of occupational therapy, the force of her extremities was normal and the ataxia completely disappeared. Childhood acute ischemic stroke although rare can happen with cerebellar involvement. Because in our patient the first brain CT scan was nearly normal and a false negative rate for initial computed tomography (CT) scanning of 60%-80% also contributes to missed and delayed diagnosis of childhood AIS, for every child presenting with acute ataxia without identified cause in addition to CT scan, MRI also being ordered and from the beginning besides other causes, stroke be contemplated as a cause of ataxia.

Lafora progressive myoclonus epilepsy (Lafora disease, LD) is a fatal autosomal recessive neurodegenerative disorder (with an onset in teenage years in previously normal adolescents). This paper represents a view of a patient diagnosed with Lafora progressive myoclonus epilepsy, over a course of seven years. A description of the initial manifestation of symptoms, doctors’ attempts to combat the symptoms with drug treatment, further attempts towards reaching the correct diagnosis, the final confirmation of the Lafora diagnosis (mutation in the NHLRC1 gene), and the current state of the patient is presented. The absence of a positive family history, the lack of staff specialized in dealing with this or similar pathology, and the diagnostic inability to characterize this type of disorder in Bosnia and Herzegovina have led to a fair delay in diagnosing and beginning of an adequate pharmacological treatment. Overall, recent identification of LD cases in Bosnia and Herzegovina warrants an establishment of a Centre for Genetic Testing in order to ensure more humane counseling of an entire family whose family member(s) might be diagnosed with this devastating and currently an incurable disorder.

Varicella infection in children is a common self-limited illness with neurological complications in less than 0. 1% of cases. Longitudinally extensive transverse myelitis (LETM) is uncommon in children following infection with varicella-zoster virus. We describe a case of 13-yr immunocompetent girl with LETM following varicella infection showing a dramatic clinical response to a combination of acyclovir and pulse steroids.

Dear Editor-in-Chief The article entitled “ Comparing Mental Health of School-Age Children with and without Epilepsy” published in summer 2016 (1) was very interesting and focused on a valuable subject, which indicates the researchers’ scrutiny. We would, therefore, like to express our gratitude to the authors for selecting this subject and to the Iranian Journal of Child Neurology as well. Given the key role of articles in decisions made for health, correct styles of writing the papers and the accuracy of reviewers when deciding on the final approval can greatly help with scientific advancement. Here presented some points to be taken care of...