Iranian Journal of Child Neurology

Abstract

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 that defined as repetitive unintended involuntary movements. Major hyperkinetic movements contain tremor, tic, dystonia, myoclonus and chorea. Although, there are frequent drugs that effective on these abnormalities, but some of these are resistant to conventional treatments. Vesicular monoamine transporter₂ (VMAT₂) inhibitors (Tetrabenazine, Deutetrabenazine and Valbenazine) are new agents that have been introduced in the last decade for treatment some movement disorders in particular tardive dyskinesia, Huntington chorea and Tourette syndrome. In this brief review, we reviewed the role of these drugs on hyperkinetic movement disorders.

Abstract

Objective

Multiple sclerosis 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 risk of disease. The HLA-DR2 distribution in MS patients has been confirmed but contradictory outcomes have been found although its effect on ethnicity and gender is unclear. Since, there are no data regard to the association of HLA-DR2 (HLA-DRB1*1501-DRB5*01-DQB1*0602) with MS in Khuzestan, and because of ethnic diversity, investigating the association of HLA-DR2 with MS disability in both sex and ethnicity, was the aim of this study.

Materials & Methods

A total of 399 individuals were recruited in the study. HLA typing was conducted using the polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) technology. Moreover, HLA-DR2 association with MS was analyzed. Also, probable association with gender, ethnicity, EDSS, MS clinical course was examined by 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, DRB5*01⁺-DRB1*1501⁺-DQB1*0602^- frequency was very low. It was observed that no haplotype has association with MS susceptibility. Interestingly, none of the haplotypes showed association with ethnicity, sex, EDSS and MS course except for 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

Abstract

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 seizure in acute bacterial meningitis was 37.4%. Because of association between seizure and complication, it is necessary to pay more attention to the exact and on-time diagnosis of bacterial meningitis.

Abstract

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 changes of QOL based on CP QOL-Child questionnaire in bandage group significantly increased in the first month after surgery, but in the cast group this parameter significantly decreased( P <0.001). In third month after surgery, the mean ratio changes of QOL -in both method- significantly increased but the difference mean ratio changes of QOL between the 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.

Abstract

Objective

participation in meaningful activities are important aspects of development in children with developmental disorder such as autism spectrum disorder. The purpose of this study was to assess the correlation of school participation with motor proficiency and executive function in children with Autism Spectrum Disorder.

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 childrenwith 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 andmetacognition 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.

Abstract

Objective

Some previous reports mentioned the improved survival with no disability in very low birthweight neonates (VLBW), However, 16% of these neonates encountered with the developmental disorders. Regarding the lack of previous investigations on the developmental status of 5 year old very low birthweight children, and according to the importance of early detection and treatment, we aimed to assess the developmental status of 5 year old very low birthweight children

Materials & Methods

This is a historical cohort study which was conducted on 5 year old children. Participants were divided into VLBW and normal birth weight groups (NBW). Data were gathered buy the ASQ questionnaire. This questionnaire consisted of 5 developmental domains including communication, gross motor, fine motor, problem solving, and personal-social skills. Data were reported by descriptive statistics including mean, standard deviation, number and percent and analyzed by Mann Whitney U test, and independent T test in SPSS v 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, higher risk of developmental delay was observed in VLBW infants compared to normal weight neonates, therefore, it is recommended to perform developmental screening tests for on time detection of high risk children and performing early diagnostic and therapeutic interventions. 

Objective

The aim of this study was to examine the association between language skills and parenting styles and three levels of theory of mind in Iranian preschool children.

Materials & Methods

The sample consisted of 98 preschool Iranian children (aged 5-6) from Karaj province, Iran. While theory of mind test and test of language development (Told-p: 4) were administrated with children, their mothers were asked to answer a parenting style questionnaire.

Results

Multivariate regression analysis showed a differential relationship between three levels of theory of mind, language skills and parenting styles. The results indicated that the theory of mind were predicted by most of the language skills and permissiveness parenting styles (P < 0. 01). False belief understanding was predicted only by morphological completion (p < 0.01). In addition, word articulation and authoritative parenting style were observed to predict ability to understand second order theory of mind (R² = 28%).

Conclusion

The pattern of relationships between language and theory of mind in Persian language seems similar to previous studies in other languages. Language may play a dual role in theory of mind, such that; whereas for the first (basic) and the third (advanced) levels of theory of mind, language skills (such as relational vocabulary, morphological completion and word articulation) are among of those important prerequisites, for the medium level (false belief), syntactical skills are mostly important. In addition, it seems that authoritative parenting styles could facilitate the development of higher-order abilities related to 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-Cwithin 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-yearold children with PDs in school activities

Abstract

Objective

Intraventricular hemorrhage (IVH) is an important cause of mortality and disability in premature neonates. Regarding this, 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 Hamedan, Iran, 2016.

 Materials & Methods 

This cross-sectional study was conducted on178 neonates with a gestational age of ≤ 32 weeks admitted to Fatemieh Hospital affiliated to Hamadan University of Medical Sciences, Hamedan, Iran, in 2016. The study population was selected using 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, prevalence of IVH in premature infants admitted to NICU was approximately 20 %,  , 61.2% of the neonates were male. The mean gestational age of the participants was 30.39 weeks. The comparison of delivery type between the case and control groups showed no significant difference between them in this regard(P=0.197). Furthermore, there was a significant difference between the two groups in terms of need for mechanical ventilation (P=0.03), pneumothorax risk of this condition in the preterm neonates is enhanced by some factors, such as low birth weight, 5-minute Apgar score, and gestational age as well as the need for mechanical ventilation. (P=0.001), and 5-minute Apgar scores (P=0.04). Additionally,the incidence of IVH showed 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.

Abstract

Objective

Early diagnosis is considered as a priority for prevention and treatment of asphyxia-related complications. The main aim of the present study was to evaluate the prognostic value of interleukin-6 (IL-6) and hypoxic ischemic encephalopathy grade in prediction mortality and developmental status of neonates affected by prenatal asphyxia.

Materials & Method

The cohort study was conducted on 38 term asphyxiated infants at Ghaem hospital, Mashhad, Iran, during 2013-2017. The HIE grade and serum IL-6 levels were determined at the time of birth. The developmental status was determined using the Denver II test at the end of two-year follow-up.

Results

 HIE grade 3 resulted in 83% mortality rate and developmental delay in all the survivors. The average 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 1, 2 and 3, respectively. Roc curve analysis revealed the cut-off levels 24 pg/ml to predict the developmental delay with sensitivity and specificity of 96 and 92%, respectively.

Conclusion

 The IL-6 level and HIE grade are the potential prognostic biomarkers for determination of mortality and morbidity rate in the asphyxiated neonates

Abstract

Objective

Phenylketonuria (PKU) is one of the most common inherited metabolic diseases, classified as classic and non-classic forms.2% of children with PKU develop a severe and progressive neurologic disease called non classic (malignant) PKU. We aimed to demonstrate the clinical features and laboratory findings and the diagnostic and therapeutic properties of non-classic PKU patients referred to a tertiary level referral center of children in Tehran.

Material and Method

 In this study, we evaluate background information such as gender and age, clinical manifestations, laboratory findings, and response rates to conventional treatment of patients with non-classic PKU who referred to Mofid Children's' Hospital through neonatal screening.

Result

Twenty patients with diagnosis of non-classic PKU were included. The mean age of them was 6.00 ± 2.81 years ranging from 2 to 12 years, and 45.0% were male. In patients with 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%). An overall response to treatment was 85.0%. Factors that predict good response to treatment were 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.

Abstract

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.

Abstract

In this study, a case of primary diffuse leptomeningeal melanomatosis (PDLM), without neurocutaneous melanosis syndrome, is presented. A female patient (age, 14 years) presented with headache, nausea, vomiting, vertigo, diplopia, and lower limb weakness. 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 6 months.  PDLM 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 CNS biopsy can be helpful in identifying other underlying conditions.

Abstract

 inflammatory bowel disease (IBD) has both intestinal and extra intestinal manifestations. Inflammatory bowel disease (IBD) is a known risk factor for cerebral venous thrombosis (CVT) event in adult and children. The precise mechanism of thrombotic event is not known in patient with IBD. We report a case of ulcerative colitis with CVT during admission for acute relapse. 12 years old boy known case of ulcerative colitis since 12 months ago admitted in children hospital because of bloody diarrhea, recurrent colicky abdominal pain. At the third day of admission patient had severe headache. Level of consciousness has decreased gradually during 12 hours. Child has been aphasic later. One episode of tonic clonic seizure has happened 18 hours after the onset of headache. Neurologic examination showed right hemiparesis. Physical examinations including blood pressure and fundoscopy were unremarkable in last admission. Brain CT shows intraparanchymal hemorrhage in left temporal lobe with asymmetric increased density in left lateral sinus.  The results of MRI has shown abnormal hyperintense signal in left lateral sinus in T1WI and T2WI that is compatible with thrombosis (loss of signal) in MRV. LMW heparin was administered according to consultation with hematologist and continued post discharge. Child condition has improved slowly and neurologic evaluation was normal after 3months. 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.