Iranian Journal of Child Neurology
Year:2021 | Volume:15 | Issue:3|Papers Count:15

Cerebral palsy (CP) is a common pediatric disorder that results in a wide range of motor and functional problems that impose mobility limitations, decrease the quality of movement, negatively affect physical activity participation, self-care, and academic performance, and ultimately result in social isolation and negative self-evaluation. Despite abundant evidence of motor function, very few studies investigated all aspects of self-evaluation or described the relationship between motor function and self in individuals with CP. The present study aimed at investigating the relationship between functional motor status and self-evaluation in individuals with CP. A systematic search was performed in six electronic databases (PubMed, Scopus, ProQuest, OTseeker, Web of Sciences, and Google Scholar) for English language articles from any date to May 2019. Screening, selection, and quality assessment were conducted by two authors independently. All studies recruiting individuals with CP and using functional motor status and self-evaluation tests were included. The AXIS checklist was used for the quality assessment of included studies. As all data sources were generated by published studies, ethical approval was not applicable to the present study. Seven articles met the inclusion criteria. These studies investigated the relationship between functional motor status and self-esteem and selfconcept. Based on the AXIS, three articles were identified as high quality and four as low quality. The result of the present review showed that there was no relationship between self-concept and functional motor status in individuals with CP, while there was a significant relationship between self-esteem and functional motor status. More studies are required to shed light on other aspects of self and relationship of self-evaluation with motor function in individuals with CP.

Hyperkinetic movement disorders are a common group of movement abnormalities in children, characterized with repetitive unintended involuntary movements. Major hyperkinetic movements include tremor, tic, dystonia, myoclonus, and chorea. Although a number of drugs have been proven to be beneficial for these abnormalities, some patients may become resistant to conventional treatments. Vesicular monoamine transporter2 (VMAT2) inhibitors (Tetrabenazine, Deutetrabenazine, and Valbenazine) are new agents introduced in the last decade for treating some of movement disorders, in particular tardive dyskinesia, Huntington chorea, and Tourette syndrome. In this brief review, we discussed the role of these drugs in managing hyperkinetic movement disorders.

Objective: Multiple sclerosis (MS) is a partially heritable autoimmune disease. HLA-DR2 is the largest identified genetic risk factor for MS. The largest identified genetic risk factor is haplotype from the MHC class II HLA-DR2, which increases the disease risk. The HLA-DR2 distribution in MS patients has been confirmed, but contradictory outcomes have been found. Moreover, the HLA-DR2 effect on ethnicity and gender is unclear. There are no data regarding the HLADR2 (HLA-DRB1*1501-DRB5*01-DQB1*0602) association with MS in Khuzestan Province, Iran. This study aimed to investigate the association of HLA-DR2 with MS regarding both sex and ethnicity in this province. Materials & Methods: A total of 399 individuals were recruited. HLA typing was conducted using the polymerase chain reaction amplification with sequencespecific primers technology. The HLA-DR2 association with MS was analyzed, and also its probable association with gender, ethnicity, the expanded disability status scale (EDSS), and MS clinical course was examined using the Chi-square test. Results: HLA-DRB5*01--DQB1*0602-as the most common HLA haplotype was found in both patient and control groups. In contrast, the DRB5*01+-DRB1*1501+-DQB1*0602-frequency was very low in the groups. It was observed that haplotypes had no association with MS susceptibility. Most of the haplotypes showed no association with ethnicity, sex, EDSS, and MS course except for the HLA-DRB5*01+-DRB1*1501+-DQB1*0602-haplotype that was positively associated with EDSS steps 5 to 10 (p=0. 014) and non-RRMS (p=0. 023). Conclusion: There was no association between HLA-DR2 and MS susceptibility. However, the higher HLA-DRB5*01+-DRB1*1501+-DQB1*0602-frequency may play a role in MS development. Also, HLA-DR2 did not increase significantly concerning clinical course, ethnicity, sex, and EDSS. This study further supports the importance of replication studies as susceptible loci that might differ in various ethnicities. Therefore, it is concluded that the association between HLA-DR2 and MS is more allelic than haplotypic in Khuzestan.

Objective: The current study aimed to investigate the prevalence and risk factors of seizure in acute bacterial meningitis. Materials & Methods: In the present study, a total of 180 children (age range, 2 months to 14 years) with acute bacterial meningitis, were separated into two groups based on the diagnosis of seizure. The study was conducted in Mashhad (Iran) from 2002 to 2016. Results: Seizure occurred in 37. 4% of children with bacterial meningitis. Streptococcus pneumonia (S. pneumonia) was the most common organism. Most of the children with seizures (53. 7%) had more than one episode. Also, 35% of patients had neurologic complications. Complications were more related to the seizure occurrence, the number of episodes, prolonged seizure, and being younger than 12 months. Age categories of less than 1 year and 1-5 year were associated with increased risk of seizure (odds ratio: 4. 33 and 6. 54, respectively). The more episode of seizure was associated with more complications (odds ratio: 6. 33). Conclusion: The prevalence of seizures in acute bacterial meningitis was 37. 4%. Besides, the seizure was associated with more complications. Hence, timely diagnosis and treatment of bacterial meningitis are necessary for preventing future consequences.

Objective: Cerebral palsy (CP) is a non-progressive Neurodevelopmental disorder mainly treated using Single-event multilevel surgery (SEMLS). SEMLS contains using a casting method to immobilize the operated limb. However, in the present study, in addition to casting, the bandaging method was also applied. Bandaging is a newer method compared to casting. No study has used bandage for post-surgery immobilization. According to the best knowledge of the authors, no study has compared the outcome of bandage and cast for postoperative immobilization regarding the rehabilitation and quality of life (QoL) in the first and third months following the surgery, within the recovery period, which is associated with consequences like caring, hygiene, transferring, and mobility that affect the spirit and function of children. As a result, we decided to investigate the effect of these methods on the QoL of children the following surgery to treat CP. Materials & Methods: Following an analytical cross-sectional design, 100 children (aged 4-12 years) were randomly divided into hemiplegic and diplegic CP. The Cerebral Palsy QoL questionnaire (CP QOL-Child) was filled by parents of the participants. Based on the type of administered immobilizer, 80 children were randomly divided into two groups (40 subjects in each group). All subjects were evaluated using a similar questionnaire in the first and third months after surgery. The non-parametric Mann-Whitney test and ANOVA test were used to compare the study groups. Results: The mean ratio of QoL changes, based on the CP QoL-Child questionnaire, was significantly increased in the bandage group during the first month after surgery. However, for the cast group, this parameter was significantly decreased (P<0. 001). In the third month after surgery, the mean ratio of QoL changes was significantly increased in both groups, but the difference in the mean ratio of QoL changes between the two methods wasn’ t significant (P=0. 64). Conclusion: In the first month after surgery, the bandaging method was more effective than the casting method, but in the third month, the outcomes were similar for both groups.

Objective: Participation in meaningful activities is an important aspect of development in children with developmental disorders such as autism spectrum disorder (ASD). The purpose of this study was to assess the correlation of school participation with motor proficiency and executive function in children with ASD. Materials & Methods: In this cross-sectional (descriptive-analytic) study, 52 students aged 6 to 12 years old with ASD were selected through the convenience sampling method. The GARS-2 scale was used to confirm ASD diagnosis. Other psychiatric comorbidities such as ADHA were studied by the CSI-4 tool, and students with comorbidities were excluded. Data were collected using SFA, BOTMP-2, and BRIEF questionnaires. It should be noted that in the BRIEF questionnaire, a higher score indicates a more severe disability. Results Our findings showed that motor proficiency and its components had a significant direct correlation with school participation in children with ASD (P ≤ 0. 001). On the other hand, school participation was inversely and significantly correlated with the behavioral regulation and metacognition monitoring indices of the executive function dimension (P <0. 05). Conclusion: Based on the findings of this research, the development of motor proficiency and improvements in the behavioral regulation and metacognition monitoring of students with ASD will boost their participation in school activities. Motor proficiency was significantly correlated with school participation in children with ASD. More attention should be paid to perceptual motor interventions and cognitive rehabilitation programs (with a focus on monitoring metacognition and shifting behavioral regulation) to increase the participation of children with ASD in school activities.

Objective: Some previous studies have reported the improved survival of verylow-birth-weight (VLBW) neonates with no disabilities. However, 16% of these neonates have developmental disorders. Considering the lack of research on the developmental status of five-year-old VLBW children and the importance of early detection and treatment, in this study, we aimed to assess the developmental status of five-year-old VLBW children. Materials & Methods: This historical cohort study was conducted on five-year-old children. The participants were divided into VLBW and normalbirth-weight (NBW) groups. Data were gathered using the Ages and Stages Questionnaire (ASQ). This questionnaire consisted of five developmental domains, including communication, gross motor, fine motor, problem-solving, and personal/social skills. Data were reported by measuring descriptive statistics, including mean, standard deviation, number, and percentage, and analyzed by Mann-Whitney U test and independent t-test in SPSS version 22. Results: A total of 106 five-year-old children, including two groups of VLBW and NBW, participated in this study. The results of Mann-Whitney U test showed a significant difference between the groups regarding the scores of communication (P=0. 002), gross motor (P<0. 001), fine motor (P<0. 001), and problem-solving (P<0. 001) skills. However, no significant difference was found between the groups regarding the personal/social developmental status (P=0. 559). Conclusion: According to the results, a higher risk of developmental delay was observed in VLBW infants as compared to NBW neonates; therefore, it is recommended to perform developmental screening tests for timely detection of high-risk children and early diagnostic and therapeutic interventions.

Objective: The current study aimed to investigate the association between language skills and parenting styles and three levels of theory of mind (including emotion recognition, false belief understanding, and second-order belief) among Iranian preschool children. Materials & Methods: A total of 98 preschool Iranian children (aged 5-6 years) living in the Karaj province, Iran were recruited. While the theory of mind test and test of language development (Told-p: 4) were administrated on children, their mothers were asked to answer a parenting style questionnaire. Results: Multivariate regression analysis showed a differential association between three levels of theory of mind, language skills, and parenting styles. Most language skills and permissiveness parenting styles could predict the emotion recognition ability (P<0. 01). Morphological completion predicted false belief understanding (p<0. 01). Also, word articulation and authoritative parenting style could predict the ability to understand second-order belief (R2=28%). Conclusion: The pattern of associations between language and theory of mind in the Persian language seems similar to previous studies in other languages. Language may play a dual role in the theory of mind. Whereas for the first (basic) and the third (advanced) level of theory of mind, language skills, like relational vocabulary, morphological completion, and word articulation, are general and nonspecific predictors, but syntactical skills are a specific casual predictor for the false belief understanding. Also, it seems that an authoritative parenting style could facilitate the development of higher-order abilities related to the theory of mind.

Objective: This study was conducted to determine the construct validity and reliability of the Children Participation Assessment Scale in activities outside of School– Child version (CPAS-C) in 6-12-year-old children with physical disabilities (PDs). Materials & Methods: In this methodological study, participants were 100 children with PDs, recruited from a school for exceptional children with physical-motor disabilities and 100 normally developing children. For assessing the test-retest reliability (ICC), 40 children with PDs completed CPAS-C within a two-week interval, and for assessing the internal consistency (Cronbach’ s alpha) and construct validity, 100 children with PDs separately completed the Vinland Adaptive Behavioral Scale (VABS) and CPAS-C. Result: The majority of participants were children with CP, among whom the highest and lowest ratios were related to diplegia (32%) and dystonia (1%), respectively. The results showed that CPAS-C had acceptable reliability (ICC: 0. 6-0. 99). Cronbach’ s α score was between weak to moderate (α = 0. 25-0. 75). The difference in the score of participation between the two groups (normally developing children and children with physical disabilities) was significant in all areas (P<0. 001). Conclusion The CPAS-C had acceptable psychometric properties; it can be used as a valid and reliable tool for assessing the participation of 6-12-year old children with PDs in school activities.

Objective: Intra-ventricular hemorrhage (IVH) is the leading cause of mortality and disability in premature neonates. The present study aimed to determine the frequency of IVH and its risk factors in the premature newborns admitted to the Neonatal Intensive Care Unit (NICU)at Fatemieh Hospital in Hamadan, Iran, in 2016. Methods & Materials: This retrospective cross-sectional study was conducted on178 neonates with a gestational age of ≤ 32 weeks admitted to Fatemieh Hospital affiliated to the Hamadan University of Medical Sciences, Hamadan, Iran, in 2016. The study population was selected using the census method. The newborns were subjected to cranial ultrasound on the seventh day of life, and they were assigned into two case and control groups (namely neonates with IVH and those without IVH, respectively). Intra-ventricular hemorrhage was classified into four grades regarding Papile classification. The patients’ demographic specifications, including 1-and 5-minute Apgar scores, type of delivery, birth weight, use of mechanical ventilation, prenatal corticosteroid, gestational age, and some complications (e. g., Pneumothorax), were collected using a checklist. The data were analyzed using SPSS software version 16. Results: According to the results, the prevalence of IVH in premature infants admitted to NICU was approximately 20%, and 61. 2% of the neonates were male. The participants’ mean gestational age was 30. 39 weeks. The comparison of delivery type between the case and control groups revealed no significant difference (P=0. 197). Furthermore, there was a significant difference between the two groups in terms of their need for mechanical ventilation (P=0. 03), Pneumothorax(P=0. 001), and 5-minute Apgar scores (P=0. 04). Moreover, the incidence of IVH had a significant relationship with the mean gestational age (P=0. 001) and birth weight (P=0. 04). Conclusion: According to the findings, the premature newborns admitted to the NICU revealed a relatively high prevalence of IVH. The condition is aggravated in preterm neonates by some factors such as low birth weight, 5-minute Apgar score, gestational age, and the need for mechanical ventilation.

Objective: Early diagnosis is has a crucial role in both prevention and treatment of asphyxia-related complications. The current study aimed to evaluate the prognostic value of interleukin-6 (IL-6) and hypoxicischemic encephalopathy grade in the prediction of mortality and the developmental status of neonates affected by prenatal asphyxia. Materials & Methods: This cohort study was conducted on 38 term asphyxiated infants at Ghaem hospital, Mashhad, Iran, from 2013 to 2017. The HIE grade and serum IL-6 levels were determined at the time of birth. The developmental status was evaluated using the Denver II test at the end of the two-year follow-up. Results: HIE grade 3 resulted in 83% mortality rate and developmental delay among all survivors. The mean IL-6 level was 2. 7 ng/ml in the control group (not affected HIE), which increased up to 29, 175, and 136 ng/ml in those with HIE grades of 1, 2, and 3, respectively. According to the ROC curve analysis, the cut-off level of 24 pg/ ml could predict the developmental delay with sensitivity and specificity of 96 and 92%, respectively. Conclusion: The IL-6 level and HIE grade are potential prognostic biomarkers for the determination of mortality and morbidity in asphyxiated neonates.

Objective: Phenylketonuria (PKU) is one of the most common inherited metabolic diseases, which is classified into classic and non-classic types. It is estimated that 2% of children with PKU develop a severe and progressive neurological disease, called non-classic (malignant) PKU. This study aimed to demonstrate the clinical features, laboratory findings, and diagnostic/therapeutic characteristics of non-classic PKU patients referred to a tertiary referral center for children in Tehran, Iran. Materials & Methods: In this study, background information, such as gender and age, clinical manifestations, laboratory findings, and response rate to conventional treatment, was investigated in patients with non-classic PKU, who were referred to Mofid Children’ s Hospital in Tehran, Iran, through neonatal screening. Results: Twenty patients with a diagnosis of non-classic PKU were included in this study. The mean age of the patients was 6. 00± 2. 81 years (range: 2-12 years), and 45. 0% were male. In patients with a late diagnosis, the most common presentations were motor developmental delay (15. 0%), skin and cutaneous manifestations (15. 0%), seizure (5. 0%), and restlessness (5. 0%). The overall response rate to treatment was 85. 0%. Factors that predict good response to treatment included female gender, higher neopterin level, and lower age at diagnosis and management. Conclusion: In conclusion, about half of patients with non-classic PKU remain asymptomatic, which is due to early diagnosis via neonatal screening. Also, higher age at diagnosis and treatment, besides low neopterin levels, may be useful as prognostic factors.

Objective: Gaucher disease (GD) is the most common autosomal recessive disorder of glycolipid storage. It results from mutations in the glucocerebrosidase (GBA) gene and leads to GBA deficiency. Different mutations are associated with different phenotypes in the three major types of GD. Materials & Methods: The spectrum of mutations in GBA gene in 26 unrelated patients with GD from different Iranian populations was determined by DNA sequencing, polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP), and amplification-refractory mutation system (ARMS) methods. An in silico analysis was also performed for novel mutations. Results: Six new mutations were identified in this study. The newly detected mutations that could be theoretically harmful included p. I200T (c. 599T>C), p. H312D (c. 934C>G), p. L325S (c. 974T>C), p. L393V (c. 1177C>G), p. S439G (c. 1315A>G), and p. M455R (c. 1365G>A). Also, p. L483P, p. N409S, p. W420X, p. E379K, p. R398Q, p. N227S, p. R202Q, and p. D448H mutations were identified in the patients. Besides, two new complex mutations, namely, p. S439G/p. S439G+p. E379K/-and p. R202Q/p. R202Q+p. N227S/p. N227S, were detected. The most common GBA mutation in the population was p. L483P with an allele frequency of 32. 7%, followed by p. N409S (19. 2%). Conclusion: The present study detected six new mutations of GBA gene among GD patients. Two mutations (p. L483P and p. N409S) were especially common among Iranians; this finding can be used in implementing screening programs and understanding the molecular basis of GD.

In this study, we present a case of primary diffuse leptomeningeal melanomatosis (PDLM), without neurocutaneous melanosis syndrome. A female patient (age: 14 years) presented with headache, nausea, vomiting, vertigo, diplopia, and lower limb weakness. The magnetic resonance imaging (MRI) showed leptomeningeal isointensity on T1-and T2-weighted images and hyperintensity on fluid attenuation inversion recovery (FLAIR) sequences. Definitive histological examination showed a densely cellular tumor, characterized by irregular clusters of large pleomorphic cells and melanin in tumor cells. Adjuvant therapy was refused by the parents, and the patient died within six months. Primary diffuse leptomeningeal melanomatosis is recognized as an uncommon and malignant melanoma affecting the central nervous system. In case comorbidities are not diagnosed in patients with unusual symptoms of meningitis, diagnostic methods such as cerebrospinal fluid analysis and central nervous system biopsy can be helpful in identifying other underlying conditions.

Inflammatory bowel disease (IBD) has both intestinal and extraintestinal manifestations. Inflammatory bowel disease is a known risk factor for cerebral venous thrombosis (CVT) in adults and children. The precise mechanism of the thrombotic event is unclear in IBD patients. We report a case of ulcerative colitis with CVT admitted for acute relapse. A 12-year-old boy, who was a known case of ulcerative colitis since 12 months ago, was admitted to our hospital because of bloody diarrhea and recurrent colicky abdominal pain. On the third day of admission, the patient complained of severe headache. The level of consciousness decreased gradually during 12 hours and became aphasic later. One episode of tonic-clonic seizure happened 18 hours after the onset of headache. Neurologic examination showed right hemiparesis. Physical examinations, including blood pressure and fundoscopy were unremarkable on the last admission. Brain computed tomography (CT) showed intraparenchymal hemorrhage in the left temporal lobe with asymmetric increased density in the left lateral sinus. The magnetic resonance imaging (MRI) results revealed abnormal hyperintense signal in the left lateral sinus in T1WI and T2WI, which is compatible with thrombosis (loss of signal) in magnetic resonance venography (MRV). Low-molecularweight heparin was administered according to consultation with a hematologist and continued post-discharge. The patient’ s condition improved slowly, and neurologic evaluation was normal after three months. Cerebrovascular events, such as cerebral venous thrombosis (CVT) or cerebral arterial infarction (CAI), are rare extraintestinal manifestations of PIBD but probably the most common forms of thromboembolism in children. Probably, treatment of CVT with anticoagulants is the best way of management. A comprehensive study is essential to understand the choice, efficacy, duration, and primary and secondary prophylaxis protocol with anticoagulants.