Iranian Journal of Child Neurology

Abstract
Objectives: Long-term video-EEG monitoring (LTM) is a new technique to assess and track fluctuations, classify seizures, identify epileptic syndromes, and determine the number of seizures and epilepsy-simulating disorders. The present study aims to evaluate the concordance of traditional EEG and LTM in assessing childhood epilepsy.
Materials & Methods
This cross-sectional before-after study was performed on 120 children with epilepsy who were referred to the Epilepsy Monitoring Unit (EMU) at the Children’s Medical Center between September 2021 and September 2022 and were monitored for at least eight hours in this unit. The source of the study information collection was the patients’ recorded files. A neurologist reviewed the primary EEGs, and two experts blindly reviewed and interpreted the patients’ LTMs under a clinical neurophysiologist’s supervision.

Results
The diagnoses changed after employing LTM in most children with epilepsy. Based on the diagnostic agreement analysis between EEG and LTM, the coefficient value for LTM was calculated at -0.37 (p = 0.229), showing that LTM has significantly expanded patients’ diagnoses and care plans.
Conclusion
The use of LTM improves the diagnosis, classification, and monitoring of epilepsy in affected children and can be a reliable supplement to EEG in some instances

Objectives
Hyperinsulinism refers to improper insulin secretion in the presence of low plasma glucose, causing severe and persistent hypoglycemia in infants and children. The brain’s occipital lobe, which includes the visual and plays an essential role in visual perception is specifically sensitive to hypoglycemia-induced damage. The present study aims to investigate the visual perception in children suffering from hyperinsulinism and to compare it with the control group.
Materials & Methods
This cross-sectional control study, conducted in 2020 in Isfahan, Iran, involved 20 children aged 4-13 years with hyperinsulinism and 20 healthy children of the same age and gender for comparison. In both groups, the measuring instrument was the Test of Visual Perceptual Skills (non-motor) Third Edition

Results
The mean visual perceptual quotient in the case and control groups was 80.50±26.74 and 116.50±7.56 (p-value<0.001), respectively. The results overall indicated that children suffering from hyperinsulinism were weaker than healthy children in all areas of visual perception.
Conclusion
Based on the obtained results, it is recommended that children  suffering from hyperinsulinism be screened regarding visual perceptual disorders since this screening may be helpful in initiating
different rehabilitation programs among these patients.

Objectives
Intellectual disability (ID) represents a significant health challenge due to its diverse and intricate nature. A multitude of genes play a role in brain development and function, with defects in these genes potentially leading to ID. Considering that many of these genes have yet to be identified, and those identified have only been found in a small number of patients, no complete description of the phenotype created by these genes is available. CC2D1A is one of the genes whose loss-of-function mutation leads to a rare form of non-syndromic ID- 3(OMIM*610055), and four pathogenic variants have been reported in this gene so far.

Materials & Methods
In the current study, two affected females were included with an initial diagnosis of ID who were from an Iranian family with consanguineous marriage. Whole-exome sequencing was used to identify the probable genetic defects. The Genotypic and phenotypic characteristics of the patients were compared with a mutation in the CC2D1A gene, and then the structure of the gene and its reported variants were investigated.
Results
The patients carried a novel homozygous splicing variant (NM_017721, c.1641+1G>A) in intron 14, which is pathogenic according to the ACMG guideline. Loss-of-function mutations in CC2D1A have severe phenotypic consequences such as ID, autism spectrum disorder (ASD),  and seizures. However, missense mutations lead to ASD with or without ID, and in some patients, they cause ciliopathy.

Conclusion
This study reports the fifth novel, probably pathogenic variant in the CC2D1A gene. Comparing the clinical and molecular genetic features of the patients with loss-of-function mutation helped to describe the phenotype caused by this gene more precisely. Investigating the CC2D1A gene's mutations and structure revealed that it performs multiple functions. The DM14 domain appears more pivotal in triggering severe clinical symptoms, including ID, than the C2 domain.

Objectives
The progress of cardiac surgery in children and the increase in the survival of children with Congenital Heart Disease (CHD) has led to consider another issue called a neurodevelopmental disorder. In this study, 53 children with CHD were evaluated in terms of development with the Essence Q questionnaire, Otoacoustic Emission (OAE), and Auditory Brainstem Response (ABR) regarding these patients’ hearing and risk factors. The Essence Q scores were also examined

Materials & Methods
In this prospective, cross-sectional study, the researchers included 53 children diagnosed with CHD. Initially, each child underwent ABR and OAE tests. Subsequently, data on potential risk factors
associated with neurodevelopmental delay were collected. A trained project associate administered the Essence Q questionnaire, using parents’ information as a guide. Following data collection, this study proceeded with an in-depth analysis of the information.
Results
Thirty-six boys (67.92%) and 17 girls (32.08%) with CHD were included in the study. The mean age of children was 2/23+_8.11. The mean Essence Q score for boys was 7.48+_2.57.
Moreover, the average score for girls was 2.23 8.11. According to this questionnaire, 39 patients (73.58%) had hyperactivity disorder,46 patients (86.79%) had behavioral disorders, and ten patients (16.98%) had a motor delay. Unlike previous studies, all patients had normal OAE and ABR hearing.

Conclusion
This study demonstrated that factors such as developmental delay in the first year, a known genetic disease, and a history of seizures significantly impacted the Essence Q score. However, elements like prematurity, the use of ventilation, abnormalities on the dorsum, and the number of days post surgery did not significantly affect the Essence Q score. Essence Q can be a reliable tool in screening for neurodevelopment in children with CHD

Objectives
Cerebral palsy (CP) is one of the most common causes of serious physical disability in childhood and is a persistent movement disorder before the age of three. This disorder can negatively affect both the child and their family. In recent years, the use of melatonin as a safe, effective, and cheap drug has been expanding in improving the sleep disorders of these children. Therefore, this study aimed to investigate melatonin’s effect on sleep disorders in children with CP.

Materials & Methods
This double-blind clinical trial was conducted on children aged 2 to 12 years with CP who were referred to the pediatric neurology clinic for sleep problems. The participants were included in the study by convenience sampling. After obtaining informed consent from parents, patients were divided randomly into two intervention (melatonin) and control (placebo) groups. In the intervention group, patients received oral melatonin tablets, and in the control group, patients received a placebo (3 mg oral lactose) 30 minutes before going to sleep.
Results
The results of this study showed no significant relationship between age and gender with sleep disorders in children with CP (P>0.05). A significant effect of melatonin on sleep disorders was found in children with CP. The greatest effect of melatonin is the time required to start falling asleep. Melatonin was associated with decreased time needed to fall asleep and increased sleep duration.

Conclusion
The results of the study demonstrated that sleep disorders are prevalent among children with CP. Therefore, proper and timely treatment of these children is crucial. According to the present study’s findings, melatonin effectively improves the time of falling asleep and these children’s sleep duration.

Objectives
This study evaluated the efficacy of Polyethylene glycol 4000 for fecal disimpaction in children with cerebral palsy.
Materials & Methods
A randomized control trial study was conducted on children with cerebral palsy between February – March 2017 in the pediatric neurology outpatient clinic Dr. Soetomo Hospital. Children aged 2-16 years with fecal impaction randomly assigned into polyethylene glycol 4000 (PEG 4000) and saline enema group. Polyethylene glycol 4000 was given at a dosage of 0.7 g/kg and enema using normal saline 15ml/kg twelve hourly. Constipation was diagnosed using ROME IV criteria, and abdominal palpation identified fecal impaction. Efficacy was evaluated by clinical observation and adverse symptom monitoring. Data were analyzed by statistical software using an independent t-test (p<0,05).

Results

Thirty-two children were randomized into the study. Muscle relaxant was discovered in 17/32 patients. Sex, age, and body weight were not statistically different between groups. The resolution of fecal  impaction was significantly different between PEG 4000 and saline enema (21.69 hours and 39 hours respectively; p=0.001). Application of muscle relaxant and severity of the disease did not involve treatment efficacy. There was no adverse symptom reported during treatment

Conclusion
Polyethylene glycol 4000 results in fecal disimpaction faster than enema in constipated children with cerebral palsy

Objectives
This study aimed to determine the prevalence of central auditory processing disorder (CAPD) in elementary school students in Kerman, Iran, during 2018-2019.

Materials & Methods
This cross-sectional study was conducted on 1369 elementary school students in Kerman. These students were selected by cluster sampling from different areas of Kerman and then screened using the Buffalo Model Questionnaire (BMQ). Based on the data obtained from the questionnaire, normal children were excluded from the study. Then, children with suspected central auditory processing disorder (CAPD) underwent ear exams and were excluded from the study in case of abnormal results in the tympanic membrane examination (raptureeffusion). The remaining subjects underwent peripheral audiometry evaluation, and children with abnormal audiometry were excluded from the study. Finally, the remaining children with suspicious screening results, a normal examination, and normal audiometry underwent a specific test to detect Central auditory processing disorder. Data analysis was carried out using SPSS software.

Results
One thousand three hundred sixty-nine primary school students with a mean age of 9.15 ±2.63 years enrolled in this study. 52%% of students were male. 8.03% of them had CAPD. A statistically significant relationship was found between the prevalence of CAPD and gender (P<0.001), place of residence (P<0.001), history of middle ear inflammation (P<0.001) and history of head injury.
Conclusion
The quality of life of these students with CAPD can be improved via timely recognition of CAPD and the provision of appropriate preventive and therapeutic facilities

Background

Hypoxic-ischemic encephalopathy (HIE) is still a relevant cause of neonatal mortality and morbidities. HIE severity can predict long-term outcomes. Sarnat staging is one of the most common methods applied to evaluate HIE severity; However, there is an ongoing urge to find other accurate and affordable ways to accompany this clinical staging for staging of HIE. The aim of this study was to evaluate the relationship between cerebral arteries resistive indices and other hypoxic ischemic encephalopathy indicators with Sarnat scoring of newborns subjected to perinatal asphyxia.

Methods and results

In this retrospective study, 76 neonates with gestational age ≥34 weeks affected with HIE were investigated. The patients were categorized into three groups according to Sarnat staging: I, II and III. At first, the perinatal data were investigated; the relationship between HIE severity and gestational age, childbirth types, Apgar score or need for resuscitations and respiratory support were significant. examining various symptoms in different HIE stages shows that incidence of coagulopathies were significantly higher in severe HIE neonates compared to mild ones. Finally, it was suggested that cranial arterial Doppler indices i.e. resistive index (RI) of anterior cerebral artery is significantly different in HIE stage groups.

Conclusion

Here represented a combination of some available and affordable data to reach early HIE staging; including: perinatal data, clinical symptoms a bedside Doppler ultrasonography of cerebral perfusion. Higher cranial arteries RI was associated with severe HIE and could be considered for therapeutic hypothermia which may lessen HIE mortality and morbidities.

Objectives

Autism Spectrum Disorder (ASD) encompasses a range of neurodevelopmental disorders, and early detection is crucial. This study aims to identify the Regions of Interest (ROIs) with significant differences between healthy controls and individuals with autism, as well as evaluate the agreement between FreeSurfer 6 (FS6) and Computational Anatomy Toolbox (CAT12) methods.
Materials & Methods
ISurface-based and volume-based features were extracted from FS software and CAT12 toolbox for Statistical Parametric Mapping (SPM) software to estimate ROI-wise biomarkers. These biomarkers were compared between 18 males Typically Developing Controls (TDCs) and 40 male subjects with ASD to assess group differences for each method. Finally, agreement and regression analyses were performed between the two methods for TDCs and ASD groups.
Results
Both methods revealed ROIs with significant differences for each parameter. The Analysis of Covariance (ANCOVA) showed that both TDCs and ASD groups indicated a significant relationship between the two methods (p<0.001). The R2 values for TDCs and ASD
groups were 0.692 and 0.680, respectively, demonstrating a moderate
correlation between CAT12 and FS6. Bland-Altman graphs showed a moderate level of agreement between the two methods.

Conclusion
The moderate correlation and agreement between CAT12 and FS6 suggest that while some consistency is observed in the results, CAT12 is not a superior substitute for FS6 software. Further research is needed to identify a potential replacement for this method.

Objectives
The present study aimed to investigate whether family functioning (FF) could impact gross motor function, activity, and participation in children with cerebral palsy (CP).
Materials & Methods
Sixty-seven children with spastic diplegic CP who were admitted to the Special Education and Rehabilitation Clinic were included in the study. The guidelines of the American Academy of Neurology were followed for the diagnosis of spastic diplegia. The type of home where the family lives, the family’s average income, the child’s age, gender, and number of siblings, and the age and educational level of the child’s primary caregiver were recorded. The gross motor function capacity of children with CP was assessed with the Gross Motor Function Classification System (GMFCS). The Pediatric Evaluation of Disability Inventory (PEDI) was used to evaluate activity and  participation performance

Results
The children living in detached houses had statistically higher PEDI mobility levels than those living in apartments (p < 0.05). PEDI’s social function and self-care levels were higher in 12 to 18-year-old children with two siblings (p < 0.05). The age and educational status of the primary caregiver were found to have an important impact on the PEDI scores. According to the results, social function and self-care levels were higher in children whose primary caregivers were 30 to 65 years old and had high levels of education above high school (p < 0.05).

The effects of family income and gender on PEDI scores were statistically non-significant (p˃ 0.05). Variables related to family functioning had no statistically significant effect on GMFCS scores (p˃ 0.05).
Conclusion
These factors can enable healthcare providers to collaborate with the families to develop more comprehensive intervention plans emphasizing family strengths and supporting their needs

Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare disease of genetic origin due to the malfunctioning of a shared subunit of three mitochondrial multi-enzyme complexes. Phenotypes of this disease are a set of clinical manifestations ranging from neonatal disorders to myopathy or recurrent episodes of liver failures, and vomiting for which no adequate or definitive treatment is currently available.
This study described a case involving a 16-year-old boy who had experienced recurrent vomiting of unknown cause from age two. Normal value ranges for the basic metabolic panel were reported in previous years. The patient was admitted with Wernicke’s encephalopathy after the last vomiting attack, also indicating metabolites of organic acids compatible with DLD deficiency. Whole exome sequencing identified a known pathogenic mutation in the DLD gene, leading to a diagnosis of DLD deficiency. Our patient was treated with a high dose of thiamine supplementation and continued treatment, has not experienced any vomiting attacks or related problems in the last two years and has adequately responded to the treatment prescribed.
Normal urine organic acid levels in patients with recurrent vomiting cannot roll out DLD deficiency. However, although thiamine deficiency typically induces Wernicke’s encephalopathy, it can also be implicated in pyruvate dehydrogenase complex (PDHc) deficiency, and high-dose thiamine therapy (with doses up to 30 mg/ kg) is recommended for deficient patients.

New daily data on the COVID-19 pandemic are circulating globally. This disease usually appears with respiratory symptoms such as cough, shortness of breath, and fever. The neurological complications
of the disease are somewhat known in adults but rarely reported inchildren. Acute necrotizingencephalopathy of childhood (ANEC) is one of the brain complications associated with Coronavirus disease that usually has a poor prognosis in children. In this case, we report a rare case of a 7-year-old boy who was referred to the hospital with symptoms of convulsions after contracting COVID-19 and developed cerebral necrotizing encephalopathy caused by COVID-19 infection. Although ANEC is a rare disease, clinical examination and MRI and CT scan findings play an essentialrole in diagnosing and treating the disease.