Iranian Journal of Child Neurology
Year:2017 | Volume:11 | Issue:1|Papers Count:12

ObjectiveHypotonia is a serious neurologic problem in neonatal period. Althoughhypotonia is a nonspecific clinical finding but it is the most common motordisorder in the newborn. The objective of this study was to determine thefrequency of neonatal hypotonia then to ascertain of the most commoncauses.Materials & MethodsThis cross –sectional prospective study was carried out on the 3281 term infantshospitalized in conventional and NICU of Mofid Children Hospital, Tehran, Iran during 2012-2014. Diagnosis was made by history, physical & neurologicalexamination and accessible diagnostic tests.ResultsFifty nine hypotonic neonates were identified, forty seven (79.66%) hadcentral hypotonia (Hypoxic ischemic encephalopathy (n=2), other causes ofencephalopathy (n=2), intracranial hemorrhage (n=4), CNS abnormalities (n=7), chromosomal disorders (n=4), syndromic–nonsyndromic (n=8), and metabolicdiseases (n=8). Peripheral hypotonic recognized in 6 infants (10.17%); spinalmuscular atrophy (n=1), and myopathy (n=5). Six cases (10.17%) remainedunclassified. Twelve infants had transient hypotonia. In final study, 18 of 59infants (30%) died, nearly 90% before one year of age. Twenty-eight (47%)infants found developmental disorders and only 13 (22%) infants achievednormal development in their follow up.ConclusionNeonatal hypotonia is a common event in neonatal period. A majority ofdiagnosis is obtained by history and physical examination. Neuroimaging, genetic and metabolic tests were also important in diagnosis. Genetic, syndromic–nonsyndromic, and metabolic disorders were the most causes ofneonatal hypotonia.

ObjectiveWe aimed to find the prognostic factors to detect the patients who fail thetreatment of epilepsy, in the early stages of the disease.Materials& MethodsThis study was done on the epileptic patients attending the Neurology Clinicof Mofid Children’s Hospital, Tehran, Iran from September 2013 to October2014. After defining the criteria for exclusion and inclusion, the patientswere divided to two groups based on responding to the medical treatment fortheir epilepsy and indices were recorded for all the patients to be used in thestatistical analyses.ResultsThe patients’ age ranged from 1 to 15 yr. There was 188 patients with refractoryseizure in group 1 (experimental group) and 178 patient with well controlledseizure in group 2 (control group).There was a significant different betweenserum drug level in both groups and patients with refractory seizure grouphad a lower serum drug level than control group. In both groups tonic-clonicwas the most common type of seizure. Also the prevalence of brain imagingAbnormalityand other neurologic disorders was significantly higher in patientswith refractory seizure in compare with control group.ConclusionChildren with seizure who suffer from refractory epilepsy need more attentionand exact observation by the medical staff.

Although AOA1 (ataxia oculomotor apraxia1) is one of the most commoncauses of autosomal recessive cerebellar ataxias in Japanese population, it isreported from all over the world. The clinical manifestations are similar toataxia telangiectasia in which non-neurological manifestations are absent andinclude almost 10% of autosomal recessive cerebellar ataxias. Dysarthria andgait disorder are the most two common and typical manifestations. Oculomotorapraxia is usually seen a few years after the manifestations start. APTX geneon 9p13.3 chromosome is expressed in the cells of all human body tissues anddifferent mutations had been discovered. Here we report two siblings (a girl anda boy) of consanguineous parents visited at Mofid Pediatrics Hospital in 2015, with history of gait ataxia, titubation, tremor, and oculomotor apraxia around fiveyr old and after that. The brother showed symptoms of disease earlier and moresevere than his sister did. After ruling out the common etiologies of progressiveataxia, we did genetic study for AOA1 that showed a homozygous frameshiftmutation as c.418_418 del was found. This mutation was not reported before sothis was a new mutation in APTX gene.

ObjectiveThe morphology of anterior cerebral artery (ACA) in patients withhydrocephalus (HCP) was analyzed, and its importance was discussed inmaintaining cerebral perfusion.Materials & MethodsA total of 84 cases in 2 groups between 0 and 3 months, followed-up at FiratUniversitesi Hastanesi, Beyin Cerrahisi Klinigi, Elazig, Turkiye due to in2010-2013, were enrolled. Two groups were created for the study. Group1; patients with HCP and Group 2; as control group without HCP. In bothgroups, the length of the A2 segment of ACA was measured from its originto the junction of the genu and body portions of the corpus callosum on T2mid-sagittal magnetic resonance (MR) scans. For all cases, axial MR imagingscans were used to calculate Evans’ index (EI), and the cases were divided intothree groups: Group A, EI ≥50%; Group B, EI of 40-50% and Group C, EI<40%. The two groups (Groups 1 and 2) were compared with respect to ACAlength, and the correlation with the EI was quantified. P values below 0.05were considered statistically significant.ResultsMean length of ACA was 57.3 mm in Group 1 and 37.5 mm in Group 2. EIincreased as the length of ACA increased. A statistical comparison of the twogroups revealed that the ACA length was significantly greater in Group 1. Therelationship between EI and ACA length was statistically significant.ConclusionReducing ventricular size appears to be an important factor in addition toreducing intracranial pressure in an attempt to maintain normal cerebralperfusion (CP).

ObjectiveWe aimed to investigation the intra-rater and inter-raters reliability of the 10meter walk test (10 MWT) in adults with spastic cerebral palsy (CP).Materials& MethodsThirty ambulatory adults with spastic CP in the summer of 2014 participated(19 men, 11 women; mean age 28 ± 7 yr, range 18- 46 yr). Individuals werenon-randomly selected by convenient sampling from the Ra’ad RehabilitationGoodwill Complex in Tehran, Iran. They had GMFCS levels below IV (I, II, and III). Retest interval for inter-raters study lasted a week. During the tests, participants walked with their maximum speed. Intraclass correlation coefficients(ICC) estimated reliability.ResultsThe 10 MWT ICC for intra-rater was 0.98 (95% confidence interval (CI)0.96-0.99) for participants, and>0.89 in GMFCS subgroups (95% confidenceinterval (CI) lower bound>0.67). The 10 MWT inter-raters’ ICC was 0.998(95% confidence interval (CI) 0.996-0.999), and>0.993 in GMFCS subgroups(95% confidence interval (CI) lower bound>0.977). Standard error of themeasurement (SEM) values for both studies was small (0.02<SEM<0.07).ConclusionExcellent intra-rater and inter-raters reliability of the 10 MWT in adults with CP, especially in the moderate motor impairments (GMFCS level III), indicates thatthis tool can be used in clinics to assess the results of interventions.

ObjectiveBayley Scales of infant & toddler development is a well-known diagnosticdevelopmental assessment tool for children aged 1–42 months. Our aim wasinvestigating the validity & reliability of this scale in Persian speaking children.Materials & MethodsThe method was descriptive-analytic. Translation- back translation and culturaladaptation was done. Content & face validity of translated scale was determinedby experts’ opinions. Overall, 403 children aged 1 to 42 months were recruitedfrom health centers of Tehran, during years of 2013-2014 for developmentalassessment in cognitive, communicative (receptive & expressive) and motor(fine & gross) domains. Reliability of scale was calculated through threemethods; internal consistency using Cronbach’s alpha coefficient, test-retestand interrater methods. Construct validity was calculated using factor analysisand comparison of the mean scores methods.ResultsCultural and linguistic changes were made in items of all domains especially oncommunication subscale. Content and face validity of the test were approved byexperts’ opinions. Cronbach’s alpha coefficient was above 0.74 in all domains.Pearson correlation coefficient in various domains, were ≥ 0.982 in test retestmethod, and ≥0.993 in inter-rater method. Construct validity of the test wasapproved by factor analysis. Moreover, the mean scores for the different agegroups were compared and statistically significant differences were observedbetween mean scores of different age groups, that confirms validity of the test.ConclusionThe Bayley Scales of Infant and Toddler Development is a valid and reliabletool for child developmental assessment in Persian language children.

ObjectiveWe aimed to determine the relationship between serum glutathioneperoxidase and febrile seizure.Materials & MethodsIn this case-control study, 43 children with simple febrile seizure (case group)were compared with 43 febrile children without seizure (control group) in termsof serum glutathione peroxidase level, measured by ELISA method. This studywas conducted in Qazvin Children Hospital, Qazvin University of MedicalSciences in Qazvin, Iran in 2012-2013. The results were analyzed and comparedin two groups.ResultsFrom 43 children 24 (53%) were male and 19 (47%) were female in childrenwith simple febrile seizure, and 26 (60%) were male and 17 (40%) were femalein febrile children without seizure (control group) (P=0.827). Serum glutathioneperoxidase level was 166 U/ml (SD=107) in the case group and 141 U/ml(SD=90.5) in the control group of no significant difference.ConclusionThere was no significant relationship between serum glutathione peroxidase andsimple febrile seizure. Thus, it seems that glutathione peroxidase, an essentialcomponent of antioxidant system, does not play any role in the pathogenesis ofsimple febrile seizure.

Acute Necrotizing Encephalopathy of childhood (ANEC) is a specific type ofencephalopathy. After viral infection, it can be diagnosed by bilateral symmetricallesions predominantly observed in thalami & brainstem of infants & children.Although, it is commonly occurred in Japanese and Taiwanese population. Thegoal of this article is to report a rare case of ANEC in a 15 months old girl infantfrom Thaleghani Hospital, Ramian, Gorgan, northern Iran.

ObjectiveChildren with autism have sitting and on-task behavior problems in class. Inthis study, the effect of three alternative classroom-seating devices such asregular classroom chairs, therapy balls, and air cushions were examined onstudents’ classroom behavior.Materials & Methods15 students with autism participated in this A1-B-A2-C multiple treatmentsstudy from Mashhad’s Tabasom School, Mashhad, Iran in 2014. Students’behaviors were video recorded in three phases: sitting on their common chairsduring phase A, air-sit cushioned in phase B, and ball chairs in phase C. Sittingtimes and on-task behaviors were quantified by momentary time samplingand compared during different phases for important changes during 8 wk.Additionally, the Gilliam Autism Rating Scale-Second Edition test was usedto examine stereotyped movements, social and communication skills of thestudents in the before and after research.ResultsSignificant increases in in-seat behaviors in 86.7% (thirteen out of 15) of thestudents and on-task behaviors in 53.3% of the students (eight out of 15) whenseated on therapy balls. Air cushions had no significant effects on in-seat/on-taskbehaviors. The results also showed significant decrease in stereotyped movementand increase in communication and social skills of these students. The teachersalso preferred the use of the balls and/or air-cushioned chairs for their students.ConclusionTherapy ball chairs facilitated in-seat behavior and decreased autism relatedbehavior of the students with Autism Spectrum Disorder in class.

ObjectiveSuitable magnetic resonance imaging (MRI) techniques from conventionalto new devices can help physicians in diagnosis and follow up of MultipleSclerosis (MS) patients. The aim of present research was to compareeffectiveness of Fluid Attenuation Inversion Recovery (FLAIR) sequence ofconventional MRI and Diffuse Weighted Imaging (DWI) sequence as a newtechnique in detection of brain MS plaques.Materials& MethodsIn this analytic cross sectional study, sample size was assessed as 40 people todetect any significant difference between two sequences with a level of 0.05.DWI and FLAIR sequences of without contrast brain MRI of consecutive MSpatients referred to MRI center of Shahid Sadoughi Hospital, Yazd, Iran fromJanuary to May 2012, were evaluated.ResultsThirty-two females and 8 males with mean age of 35.20±9.80 yr (range=11-66 yr) were evaluated and finally 340 plaques including 127 (37.2%) inT2WI, 127 (37.2%) in FLAIR, 63 (18.5%) in DWI and 24 (7.1%) in T1WI weredetected. FLAIR sequence was more efficient than DWI in detection of brainMS plaques, oval, round, amorphous plaque shapes, frontal and occipital lobes, periventricular, intracapsular, corpus callosum, centrum semiovale, subcortical, basal ganglia plaques and diameter of detected MS plaques in DWI sequencewas smaller than in FLAIR.ConclusionOld lesion can be detected by conventional MRI and new techniques might bemore useful in early inflammatory phase of MS and assessment of experimentaltreatments.

ObjectiveCerebral palsy (CP) is the most common cause of chronic disability that restrictsparticipation in areas of occupations for children. The main aim of rehabilitationis enhancement of their clients for participation in occupations. The aim of thisstudy was to overview of the factors influencing the participations of childrenwith CP in Iran.Materials & MethodsA systematic, evidence-based process (Duffy 2005) was used. For data gatheringelectronic databases including Google scholar and Iranian and foreigner famousjournals in the fields of pediatrics, were used. The main key words for searchwere Activity of Daily Living (ADL), Instrumental Activity of Daily Living(IADL), play, leisure, work, rest/sleep, social participation, and education. Allthe papers of this study were about the factors influencing the participation ofIranian CP children during 2000-2016. Totally, 156 articles were found eligibleas for Iranian CP children study, of which 100 articles were discarded. Becauseof repetitive and duplicability of some articles, 17 articles were removed as well.ResultsThe most studies about Iranian CP children participations in life areas werein the ADL area of participation (N=12), and the lowest articles were in thearea in the field of: Work (N=2), play (N=2), and sleep/rest (N=2). Most of theoccupational therapists do not focus on the all life areas.ConclusionIn Iran, many researchers do not pay attention to the participation of CP children.Many articles just paid attention to the sensory, motor or cognitive componentsof their clients.

Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomalrecessive multiple congenital anomaly syndrome distinguished by intellectualdisability, microcephaly, and dysmorphic facial characteristics. Most affectedindividuals also have Hirschsprung disease and/or gyral abnormalities of thebrain. This syndrome has been associated with KIAA1279 gene mutationsat 10q22.1. Here we report a 16 yr old male patient referred to Center forComprehensive Genetic Services, Tehran, Iran in 2015 with cardinal featuresof GOSHS in addition to refractory seizures. Whole exome sequencingin the patient revealed a novel nonsense (stop gain) homozygous mutationin KIAA1279 gene (KIAA1279: NM_015634: exon6: c.C976T: p.Q326X).Considering the wide range of phenotypic variations in GOSHS, relying onphenotypic characteristics for discrimination of GOSH from similar syndromesmay lead to misdiagnosis. Consequently, molecular diagnostic tools wouldhelp in accurate diagnosis of such overlapping phenotypes.