Iranian Journal of Child Neurology
Year:2019 | Volume:13 | Issue:4|Papers Count:16

Muscle biopsy has been practiced as a well-established part of paraclinical workup in patients with neuromuscular diseases since late 1960s. In this narrative review paper, the role of some pre and post muscle biopsy factors and their importance in achieving the best diagnostic results will be explained. Considering the new advances in diagnostic molecular techniques and the availability of local standard myopathology laboratory as well as the presence of a dedicated myopathologist, the indications of muscle biopsy in four major types of neuromuscular diseases will be shortly reviewed. Moreover, indications of muscle biopsy in four major types of neuromuscular diseases will be shortly discussed based on literature review of recent published diagnostic algorithms and our 11 years’ experience of performing about 4000 muscle biopsies cases in the only standard referral diagnostic center for muscle biopsy in Iran. Although diagnostic algorithms of some muscle diseases have been changed based on recent advances in biochemical and molecular diagnostic techniques, still muscle biopsy continues to play a major role in the diagnosis and management of variety of neuromuscular disorders and has proved to be a preferable diagnostic procedure by some neuromuscular specialists for the cases who can benefit from rapid therapeutic management. The application of diagnostic algorithms should be practiced in accordance with geographic distribution of the diseases, the availability of diagnostic techniques and the presence of specialists in each center considering the local insurance coverage and the cost to be paid by the patient in every center.

Objectives We investigated the effects of a manualized Contextual Intervention adapted for Autism Spectrum Disorders (CI-ASD), and essential elements of the intervention in promoting children’ s participation and mothers’ parenting self-efficacy. Materials & Methods In this randomized controlled trial, conducted in Tehran, Iran in 2017, participants (36 parents of children with ASD) were randomly assigned to wait-list control or intervention groups. The intervention comprised contextually reflective occupational therapy combines 3 elements: sensory processing patterns, coaching, and social support. We provided the program to promote child’ s participation and parent’ s efficiency. During phase 1, the participants in the intervention group received CIASD as long as Treatment As Usual (TAU) and during phase 2 they received TAU only. We completed the outcome measures at threetime points (pre-intervention, post-intervention, and follow-up). We conducted semi-structured interviews post-intervention to explore acceptability of intervention and participants’ experiences of CI-ASD. Results CI-ASD can produce meaningful effects in eliminating sensory issues, promoting child participation and parenting efficiency in ASD families, compared to TAU. Parents reported high levels of acceptance and also confirmed the family’ s achievements. Conclusion These gains suggest CI-ASD as an effective intervention for children who have ASD and their families, but further studies are needed to declare and generalize the findings over time. Estimated effect sizes were in the large and medium ranges and favored the intervention group.

Objectives Rett syndrome is characterized by normal development for the first 6-18 months of life followed by the loss of fine and gross motor skills and the ability to engage in social interaction. In most patients, mutations are found in methyl CpG-binding protein 2 (MECP2) gene. We investigated the relation between Rett clinical diagnosis and mutations in MECP2. Materials & Methods Children suspected of Rett syndrome were invited to participate in this study. Twenty-three patients from the Mofid Hospital, Tehran, Iran suffered from classic Rett syndrome diagnostic criteria were enrolled in 2012. The severity of symptoms was assessed for all of them. The peripheral blood samples were collected in EDTA tubes and the genomic DNA was extracted using standard salting out method. The mutation of MEPC2 gene was studied using DNA sequencing method. Results Overall, 11(47. 8%) patients had MECP2 gene mutation, while 12 cases (52. 2%) had no mutations. Changes in genetics were associated with phenotypical manifestations. The most prevalent mutation was p. v288 mainly associated with partially or uncontrolled seizures. Conclusion For the first time, we studies the Rett syndrome in terms of clinical manifestations and genetic changes in Iran.

Objectives Considering the common neurological origins, there is a relationship between the sensory gating and cognitive functions. However, there is no adequate information on this issue. In this study, auditory event-related potentials and the sensory gating performance were assessed in P50, N100 and P200 waves. Besides, their relationship with cognitive performance in auditory and visual modalities was investigated. Materials & Methods Nineteen normal primary school students (14 boys) were tested in Tehran, Iran from 2017 to 2018. In the auditory modality, the Persian version of the non-word repetition test and monaural selective auditory attention test (mSAAT) were used for assessment of the working memory and selective attention, respectively. In order to evaluate the visual working memory and visual selective attention, Rey-Osterrieth complex figure, selective and divided attention test were used, respectively. A 32-channel EEG system was used for electrophysiological assessment. Results The P50 sensory gating was negatively correlated with the visual selective attention (P=0. 034, r=-0. 49) and N100 sensory gating was negatively correlated with the auditory working memory (P=0. 043, r=-0. 48) as well as visual selective attention (P=0. 039, r=-0. 47). For P200, there was a significant negative relationship with auditory selective attention in the right ear (P=0. 034, r=-0. 49). Conclusion Sensory gating in children is not a modality-specific phenomenon. Sensory gating in a modality could be associated with cognitive functions in other modalities.

Objectives We aimed to study the precipitating factors, demographic data, clinical and radiological manifestations, electroencephalography and laboratory findings, as well as association with infections, immunization and incidence of relapse of acute disseminated encephalomyelitis (ADEM) in children admitted to Mofid Children Hospital, Tehran, Iran from Mar 2013 to Mar 2016. Materials & Methods A 3-yr retrospective review of 29 children with definite final diagnosis of ADEM in Mofid Hospital in Tehran, Iran was performed. The diagnosis was based on specified criteria, including a presumed acute demyelinating process with no history of unexplained neurological symptoms and at least one demyelinating lesion shown on magnetic resonance imaging without evidence of previous destructive white matter lesions. Results Overall, 29 children diagnosed as ADEM were studied in terms of demographic characteristics, clinical manifestations and laboratory findings in two groups according to their recurrence. The mean age of the patients with recurrence was less than those without it. It was more common in females but the difference was not statistically meaningful. There was no relationship between the season of the first episode of the disease and the recurrence incidence. Moreover, the relationship between viral infections and recurrence was statistically non-meaningful. No relationship between the recurrence of ADEM and clinical manifestations, radiological and laboratory findings was found. Conclusion The reason for high rate of recurrence in our patients may be related to the younger age of children in our study.

Objectives Speech sound production is poorer in stutterers than normally fluent peers. This study was performed to compare speech sound production abilities in Persian speaking children with developmental stuttering. Materials & Methods Overall, 34 children with stuttering and 60 children without stuttering aged from 3 to 6 yr old were enrolled from Ahvaz City, Khuzestan Province, southern Iran in 2016. The phonetic information test was used to assess speech sound production in this study and 30-minute mother-child conversations were utilized for calculation of Percentage Consonant Correct. Phonological abilities of these two groups were compared against each other and a correlation between stuttering severity and speech sound articulation was calculated. Results There was significant difference between children with stuttering and normal peers for articulation error total percentage but not significant difference was found for percentage consonant correct (P=0. 16). Moreover, no significant correlation between stuttering severity and speech sound production in this population was found. Conclusion No association seems to exist between stuttering severity and speech sound production abilities in this population. This study may lead to the notion that there was significant difference between the two groups in speech sound production assessment.

Objectives The classic ketogenic diet (CKD) as a potential epilepsy treatment with high-fat has not good tolerability in some patients, and so many families refuse to use this diet for long term especially in children younger than 2 year. In the present study, the efficacy and tolerability of the CKD only diet were compared with CKD combined a formulabased powder in children between 1 and 3 yr with intractable epilepsy. Materials & Methods We randomly enrolled 45 children referred to Mofid Children’ s Hospital, Tehran, Iran from April 2016 to May 2017 with refractory epilepsy for CKD only (control group), and formula based CKD (experimental group) treatment. Subjects were followed up for at least six months. Results Most of the patients in CKD only group did not tolerate the diet and were reluctant to eat homemade foods with high fat. All families of the patients younger than 2 yr old in this group chose to discontinue CKD and pursued other options. About 33% of the families of the patients younger than 2 yr old and 41. 6% of the total patients between 1-3 yr old in experimental group stayed to the end of the trial, and all of them showed more than 90% reduction in seizure frequency after 6 months. Moreover, regardless of the other variables, using formula increased the chance of responding to treatment 7. 32 times. Conclusion A ketogenic diet using a powder ketogenic formula is effective, safe, and tolerable in infants and children with refractory seizure especially for younger patients who are reluctant to eat ketogenic homemade foods.

Objectives The present study evaluated the depression and marital satisfaction in mothers of 36-48 months old children with developmental delay in comparison with mothers of normal children. Materials & Methods This cross-sectional study was performed on 616 mothers and their children, aged 36-48 months, from Apr 2015 to Feb 2016, in some kindergartens in Tehran, Iran. Participants were selected through multi-stage random sampling. The children were divided according to the developmental status into two groups of normal development and developmental delay. The following instruments were used: A demographic and children specification questionnaire, marital satisfaction scale, the Beck Depression Inventory, and the Ages and Stages Questionnaire. The data were analyzed using SPSS16 software. Independent t-test and Pearson correlation were employed at significance level of 0. 05. Results The mean age of children with developmental delay and normal development was 41. 94± 4. 48 and 42. 17± 5. 02 months, respectively. The prevalence of developmental delay in children aged 36-48 months was 17. 4% and in normal development children was 82. 6%. Developmental delay in boys was 23%. The highest incidence of developmental delays was in fine motor skills. Independent t-test revealed a significant difference between mothers’ depression and marital satisfaction with and without developmental delays in their children (P=0. 0001). In addition, the correlation was observed between the mother’ s depression and marital satisfaction (P=0. 0001). Conclusion Mothers of children with developmental delay suffer more from depression and have less marital satisfaction compared to mothers of healthy children. Interventional studies to reduce depression and increase marital satisfaction and its impact on development status should be conducted.

Objectives Febrile seizure is common disorder in childhood, with a prevalence of 2% to 5%. There are many drugs for treatment of this disease; however, the most common prescribed medication in Iran is phenobarbital that is cheap, but it has many side effects. We aimed to compare the costeffectiveness of topiramate versus phenobarbital in patients with febrile seizure in the south of Iran. Materials & Methods This econometric cost-effectiveness and cost-utility study were conducted on 91 patients with febrile seizure to assess two strategies of oral drug therapy including phenobarbital and topiramate in 2016-2017. Of all, 51 patients were treated with phenobarbital and 40 patients received topiramate. We followed up the patients for six months, using a randomized and single-blinded approach. A decision tree model was used. The outcomes of the model included febrile seizure and utility. The study was conducted from the perspective of the community; therefore, direct and indirect costs were included in the study. Excel and Tree Age software (2011) were used to analyze the results. Results Topiramate was cheaper and more effective than phenobarbital. In patients in the phenobarbital and topiramate groups, the mean costs were $740 and $674 per PPP, utility scores were 0. 72 and 0. 82, and febrile seizure without side effects were 0. 3 and 0. 6, respectively. Moreover, one-way sensitivity analysis confirmed the robustness of the results of the study. Conclusion Topiramate in patients with febrile seizure is a fully cost-effective and cost-efficient strategy suggested as a better alternative for children with febrile seizure.

Objectives We aimed to evaluate the efficacy of treadmill training on walking speed and endurance and quality of life in ambulatory adults with spastic cerebral palsy (CP) versus traditional physiotherapy. Materials & Methods Participants (17 men, 13 women; mean (SD) age 25 yr, 9 m (7 yr, 10 m) range 18-45) with Gross Motor Function Classification System (GMFCS) levels below IV (I, II, and III) from the Ra’ ad Rehabilitation Goodwill Complex, Tehran, Iran randomly were allocated to the experimental and the control groups each with 15 persons in 2014. The training (treadmill for experimental group and conventional physiotherapy for control group) was conducted two times a week for 8 weeks. Statistical analysis was made by Repeated Measures of ANOVA for changes within the group during the time and Independent t and Mann-Whitney U tests for the differences between the groups. Results Although the experimental group showed a significant improve in the gait speed [1. 08(0. 47) m/s to 1. 22(0. 50) m/s] (P=0. 002) and in the gait endurance [291. 13(160. 28) m to 342. 63 (174. 62) m] (P=0. 002), however the changes of the outcome measures of walking and quality of life the between groups were not significant. Conclusion The treadmill training without body weight support would improve walking speed and endurance in adults with spastic CP. It would not be however more effective than the traditional physiotherapy to increase the gait performances and function and the quality of life in adults with CP.

Objectives Mirror therapy using visual feedback is one of the non-invasive methods along with other commonly used rehabilitation treatments for neurological patients which therapeutic effects on the affected upper limb of children with hemiplegic cerebral palsy have also been studied. We aimed to examine the effect of mirror therapy on improving the dexterity and grasp of children with hemiplegic cerebral palsy. Materials & Methods In this single-blind clinical trial, 30 children with hemiplegic cerebral palsy in rehabilitation centers and special schools of Tabriz, northwest of Iran were randomly divided into two intervention and control groups in 2017. The children of the intervention group were under mirror therapy for 6 weeks. Occupational therapy exercise was done routinely for both groups. The grasp with dynamometer and the dexterity with box and block was measured. Data were analyzed using independent t-test and paired t-test. Results The mean scores of the two groups in dexterity were significantly different after the intervention (P=0. 008). However, there was no significant difference between the two groups in grasp. Conclusion Mirror therapy in hemiplegic children is useful in improving the dexterity but not in improving of the grasp.

Objectives Nutritional factors affect the incidence, severity of symptoms and progression of multiple sclerosis (MS). However, the role of specific nutritional factors remains largely unknown in MS. We conducted this hospital-based case-controlled study to investigate the association between dietary intake and risk of MS. Materials & Methods This study was conducted on 93 MS patients and 94 age-matched controls from Oct 2015 to Sep 2016 in Tehran, Iran. MS was diagnosed based on 2010 McDonald criteria and Brain Magnetic Resonance Imaging. Dietary intake was assessed using a validated semi-quantitative food frequency questionnaire. Odds ratio and 95% confidence interval of MS was calculated in different food groups using multiple logistic regression models adjusted for potentially confounding variables and compared between the two groups. Results There was no significant difference between the age (34. 62 ± 9. 68 vs. 33. 96± 8. 75) and BMI (23. 96 ± 4. 07 vs. 24. 47 ± 4. 07) of MS and control group, respectively. Higher intake of processed meat (OR (95% CI))=(2. 07(1. 18-3. 63) and non-processed meat (1. 38(1. 13-1. 68)) were found in the MS group compared with the control. Conclusion Higher intake of processed meat and non-processed meat was associated with increased risk of MS. Further studies on the probable role of these nutritional factors in the pathogenesis of MS are suggested.

Objectives The pathophysiology and mechanism of Breath-Holding Spells (BHS) remain controversial, and the relationship between BHS and anemia has not been clarified, although iron supplementation appears to be effective in many patients. We aimed to assess the probable relation of iron level with initiation of these spells in children. Materials & Methods Overall, 42 children with a diagnosis of BHS, aged between 6 months to 2 yr were enrolled during Mar 2015 to Dec 2016 at Rasht 17th Shahrivar Hospital, Rasht, northern Iran. Ferrous sulfate solution prescribed 6 mg/kg/d, 3 times daily, for all of cases, regardless of their iron levels, and the response to the treatment was evaluated. Results Twenty-five patients were boys (59. 52%). The mean age for all patients was 11. 71± 4. 63 months. Positive family history detected in 33. 33%; iron deficiency anemia in 21. 42%, depletion of iron stores in 52. 38%, and normal iron status in 26. 19% of cases. Simple spells showed significantly higher mean of Hb in comparison with severe spells (P=0. 008); also increased number of spells per month significantly decreased the mean of Hb (P=0. 007). Mean frequency of spells was 40. 14± 47. 08 before and 11. 14± 31. 10 after iron therapy, per month (P<0. 0001). Overall, 32 patients (76. 19%) had complete control of spells, 7 patients (16. 66%) partial, 2 cases (4. 76%) weak, and 1 child (2. 38%) no response after iron therapy. Conclusion Iron deficiency anemia may have an important role in BHS, and treatment of anemia may decrease number of the spells.

Objectives Children affected with spastic cerebral palsy suffering a lot of movement and balance difficulties. Balance is one of the essential variables of movement, which facilitates functional skills. The main purpose of this study was inter-rater & test-retest reliability of Pediatric Balance Scale (PBS) in children with spastic cerebral palsy. Materials & Methods In this analytical-descriptive research performed in the rehabilitation centers, south of Tehran, Iran in 2016, psychometric method was used. For investigating the inter-rater reliability, two examiners performed the scale simultaneously with 50 children with spastic cerebral palsy. Moreover, to investigate the test-retest reliability, the scale was implemented by one examiner, in two different sessions, among 50 children with spastic cerebral palsy. There was a two-week period between the first and the second session. Results The inter-rater reliability (ICC=0. 99), as well as the test-retest reliability (ICC=0. 99), was quite high. Standard Error of Measurement (SEM) was acceptable for either test-retest or inter-rater reliability. Conclusion PBS is appropriate for measuring functional balance in children with spastic cerebral palsy with mild to moderate motor impairment.

Objectives Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo Syndrome Type B; OMIM 252920) is an autosomal recessive metabolic disorder caused by mutations in the NAGLU gene which encode lysosomal enzyme N-acetyl-glucosaminidase, involved in degradation of complex polysaccharide, heparan sulfate. The disease is characterized by progressive cognitive decline and behavioral difficulties and motor function retardation. Materials & Methods In this study, targeted exome sequencing was used in consanguineous parent (mother) of a deceased child with clinical diagnosis of mucopolysaccharidosis. Sanger sequencing was performed to confirm the candidate pathogenic variants in extended family members and segregation analysis. In silico pathogenicity assessment of detected variant using multiple computational predictive tools were performed. Computational docking using the Molegro Virtual Docker (MVD) 6. 0. 1 software applied to evaluate affinity binding of altered protein for its ligand, N-Acetyl-D-Glucosamine. Moreover, with I-TASSER software functional alterations between wild and mutant proteins evaluated. Results We identifi ed a novel heterozygote deletion variant (c. 1294-1304 del CTCTTCCCCAA, p. 432LeufsX25) in the NAGLU gene. The variant was classified as pathogenic based on the American College of Medical Genetics and Genomics guideline. Computational docking with the Molegro Virtual Docker (MVD) 6. 0. 1 software confirmed different affinity binding of truncated protein for its ligand. Moreover, I-TASSER software revealed structural and functional alterations of mutant proteins. Conclusion This study expands the spectrum of NAGLU pathogenic variants and confirms the utility of targeted NGS sequencing in genetic diagnosis and also the utility and power of additional family information.

Idiopathic neuralgic amyotrophy (INA) is a disorder presented with acute severe pain in the upper extremity, followed by muscle weakness, paralysis and atrophy. INA is rare in children and few reports are found in the literature. Here, we report a case of INA in an 8-yr old boy from Iran following pharyngitis.