Iranian Journal of Child Neurology (IJCN)
Volume:16 Issue: 4, Autumn 2022

Sensory deprivation, including hearing loss, can affect different aspects of a person’s life. Studies on children with hearing impairment have shown that such patients, especially those with cochlear implants (CIs), suffer from cognitive impairments, such as working memory problems and poor language skills. The present study aimed to examine the efficacy of cognitive computer training in improving working memory and language skills in children with a CI. This research was a quasi-experimental study with a pre-test-post-test design and a control group. Fifty-one children with a CI aged 6-12 years were recruited through convenience sampling and randomly assigned to the control and treatment groups. The Wechsler Working Memory Subtest and the Test of Language Development (TOLD) were used to evaluate children’s working memory and language skills pre- and post-treatment. The treatment group attended twenty 50-60-minute cognitive computer training sessions three times a week. Sina-Working Memory Training was used to provide the treatment group with working memory training, whereas no intervention was provided to the control group. Univariate and multivariate analyses of covariance were used to analyze data. The results demonstrated the efficacy of cognitive computer training in improving the performance of cochlear-implanted children’s working memory (auditory and visual-spatial) (P < 0.01). The results also pointed to improved performance in sentence imitation (P < 0.01), word discrimination (P < 0.01), and phonemic analysis subtests (P < 0.01). Overall, the findings indicated that cognitive computer training might improve working memory and language skills for children with CI. Therefore, the development and execution of such programs for children with CIs seem to improve their cognitive functions, such as working memory and language skills.

Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders that affect social and communication skills. These diseases are characterized by severe communication and social skills disabilities and limited and repetitive activities. The prevalence of these disorders appears to be steadily increasing. It is proposed that the genes involved in the dopamine pathway may play an essential role in the development of autism. In this study, we investigated the possible association between Ex3 VNTR polymorphism of the DRD4 gene and autism spectrum disorders in the Iranian population.

Materials & Methods:

In this case-control study, 97 children with autism and 103 healthy individuals from a northwestern area of Iran as the case and control groups, respectively. After genomic xtraction from peripheral blood samples by the proteinase K method, the polymerase chain reaction (PCR) technique was used to determine the polymorphism genotypes. The data were then coded and analyzed using SPSS version 22 software.

The study results showed that the allele frequencies differed in the two groups, some of them being statistically significant. The most common allele in both the ASD and the control group was the 700 bp allele, and its frequency was significantly different in the two groups and was more common in the ASD group (p-value=0.0018). The other allele with a statistically different frequency was the 800 bp allele which was less frequent in the ASD group (p-value=0.0017)

These results suggest a potential association between Ex3 VNTR polymorphism of the DRD4 gene and autism spectrum disorder in the Iranian population. This necessitates further studies for the evaluation of the DRD4 gene

Neuroimaging in high-risk neonates and infants is done to help child neurologists predict the future neurodevelopmental outcome of these children. In this study, we assessed high-risk neonates and infants admitted to the NICU or neonatal wards of Mofid children’s Hospital, especially regarding clinical development and brain imaging

This cross-sectional study was conducted on 170 patients admitted to the neonatal and NICU ward of Mofid children’s Hospital. Considering the inclusion criteria, 112 patients were included in this project. Brain ultrasonography was performed on almost all of these babies by a single radiologist. Some patients underwent a brain CT scan, and brain MRI without contrast was done on the others. These images were interpreted and compared by a single pediatric neuroradiologist blinded to clinical data. All of these babies were followed up until 18 months of age.

In this study, 57.1% of the patients were male and 42.9% were female. Of 44 patients who obtained Electroencephalogram (EEG) during the hospitalization period with probable seizure, 25 (56.8%) had normal EEGs. Of 89 babies who were examined by ultrasound, 19 (21.3%) had abnormal findings; ventriculomegaly and then germinal matrix hemorrhage (GMH) were the most common abnormalities.Also, 27 cases (71.1%) of 38 patients undergoing a CT scan had abnormal findings. The most common findings were a hypodense area in the white matter and ventriculomegaly. Of 41 patients who underwent MRI between 1 and 27 months, 34 cases (82.9%) had an abnormal MRI. The most common findings were periventricular hyperintensities in 17 cases (41.5%), mildly delayed myelination in 15 cases (36.6%), and severe brain atrophy or thinning of corpus callosum or white matter volume loss in seven cases (17.1%). During the follow-up period, which was 18.55 ± 6.56 months, 79 (70.5%) of the children had normal development and 33 (29.5%) were suffering from a global neurodevelopmental delay. More precisely, 49 (43.7%) and 35 (31.2%) patients had motor development delay and delayed verbal development, respectively. The abnormal findings of brain imaging in the ultrasound, CT scan, and MRI were all significantly associated with an adverse neurodevelopmental outcome (P <0.001, P = 0.02, and P <0.001, respectively).

In this study, we showed that at any time before six months or after one year of age, the result of brain MRI was a strong predictor of the patient’s outcome.

Infantile spasm is an epileptic disorder of early childhood and infancy and is characterized by cluster epileptic spasms and abnormal EEG findings. Developmental delay is prevalent. Some studies have indicated the significant effect of the Ketogenic Diet (KD) on intractable spasms in children who are unresponsive to first-line treatments. It has been used successfully as a first-line treatment with fewer side effects than ACTH.

This was an interventional study in which the effectiveness of KD over a six-month period was evaluated in patients with infantile spasms. Those who fulfilled the inclusion criteria and were willing to use the diet received free cans of the 4:1 ketogenic formula. The diet was prescribed based on the Johns Hopkins protocol in the outpatient setting. All patients used a full formula diet for one month. After a month, the patients were examined by a neurologist and a dietitian, and an EEG was obtained to compare pre- and post-KD findings. In order to compare pre- and post-KD seizures, the maximum number of seizures was multiplied by the longest duration of seizures

Ten patients were assessed for one month. Using the KD led to significant changes in seizures/clusters and EEG findings. Nine parents reported improvement in their children’s social interactionsafter using the KD.

Based on the findings of this study, the KD can control seizures in patients suffering from infantile spasms by reducing seizure frequency & duration and improving EEG findings

Migraine headache after tension headache is the most common primary headache in children, and sleep disorders can aggravate the symptoms. Melatonin has been proposed in some studies for prophylaxis of migraine headaches. This study aimed to evaluate melatonin’s effect on migraine symptoms in children with migraine headaches and sleep disorders.

In this randomized clinical trial study, all 30 children aged 5 to 15 years with migraine headaches and sleep disorders were referred to the Pediatric Neurology Clinic and enrolled. Patients were randomly divided into two equal groups; the intervention group was treated with melatonin (3 mgdaily) and propranolol (1 mg/kg daily), and the control group was treated with propranolol alone (1 mg/kg daily). The severity of the migraine headaches was assessed with PEDMIDAS and a five-point Likert scale.The children’s sleep habits questionnaire (CSHQ) assessed children’s sleep disorders. The ANOVA and linear regression methods were used to analyze and compare the findings between the groups

Out of 30 children participating in the study, 9 were girls, and 21 were boys. The number of daily headaches one month (P = 0.02) and four months (P = 0.03) after treatment was significantly lower in the melatonin group compared to the control group. Regarding sleep quality, there was no significant difference between the two groups.

Melatonin and propranolol could better alleviate the migraine headaches compared to the propranolol alone in children.

Carnitine palmitoyltransferase II (CPT-2) deficiency is a rare and autosomal recessive disorder of long-chains fatty acids oxidation. Here, we report a 10-year-old boy with a bilateral hearing loss and a myopathic form of CPT II deficiency which was confirmed under molecular genetic test analysis. He was admitted to our hospital with unexplained headache, vomiting, and fever. Furthermore, he developed seizures, muscle weakness, neck stiffness and pain, mild respiratory distress, and icteric appearance. The laboratory test results also showed sever elevated levels of lactate dehydrogenase (LDH) and Creatine phosphokinase (CPK). He had also icteric appearance with unexplained hyperbilirubinemia. Further examinations revealed normal heart, liver without neurological disorders. Muscle pathological examination reported normal pathology without neuromuscular and mitochondrial disorders and storage diseases. Finally, molecular test analysis with next generation sequencing (NGS) revealed a homozygous pathogenic variant in the CPT-II gene, c.338C>T p. (Ser113Leu) which was correlated to CPT-II deficiency fatty acid oxidation disorder. Furthermore, we identified a homozygous pathogenic variant in the ADGRV1 gene, c.15736C>T p.(Arg5246*), which suggest the Usher syndrome type 2C and the reason for sensorineural hearing loss in this case. Our finding indicates that CPT-II can be associated with multiple symptoms and clinical features. Therefore, evaluation of CPT-II deficiency with molecular test analysis may be helpful in cases with unexplained icteric appearance, muscle weakness and rhabdomyolysis.

Ptosis, diplopia, and overall weakness in children may have serious underlying causes such as myasthenia, botulism, Guillain-Barré syndrome, and poisoning, which require a systematic and timely evaluation and proper management.(1,2,3) In pediatrics, clinical presentations may be atypical, and diagnostic overlap sometimes makes the final diagnosis challenging. This can be addressed through taking accurate history, performing a physical exam, conducting a comprehensive assessment, and using appropriate diagnostic algorithms

Intracranial lipomas account for less than 1% of all brain tumors. Corpus callosum lipoma (CCL) is a rare finding and up until now, documented cases are around 200 patients. These lipomas remain mostly asymptomatic, but when symptoms appear, they present through headache, seizure, dementia and in some cases, rather uncommon neurological disorders such as mirror writing.Fourteen years old girl with history of 8 years headache and recent development of vertigo, extremities trembling and drop attack was referred to neurologist and brain imaging confirmed CCL.Herein, we report another rare case of CCL, with common and uncommon symptoms of latter tumor in detail; in addition to reviewing the previous 80 years case reports aiming to achieve comprehensive perception from CCL