Iranian Journal of Child Neurology最新文献

Objectives: The present study aimed to evaluate the serum proteome of women with obsessive-compulsive disorder (OCD)/bipolar disorder (BP) compared to pure OCD subjects and healthy controls.

Materials & methods: Serum proteome of women with OCD/BP, pure OCD individuals, and healthy controls were subjected to 2DE-based proteomics accompanied with MALDI-TOF-TOF mass spectrometry. Further evaluation of the identified protein spots with the significance of p<0.05 and fold≥1.5 was done by applying protein interaction mapping via Cytoscape v. 5.3.1 and its plugins.

Results: The results indicate that vitamin D binding protein (GC) and haptoglobin spots (HP) significantly changed expression in OCD and OCD/BP with different expression patterns. These identified spots may contribute to OCD/BP and act as differentially recognized biomarkers comparing pure OCD and OCD/BP.

Conclusion: The Findings imply that these proteins in the serum of the patients could be potential distinguishable biomarkers in clinical usage after related validation experiments. Therefore, this study provides a preliminary evaluation to understand OCD/BP proteome behavior better.

Objective: Attention-Deficit Hyperactivity Disorder (ADHD) is a common neurodevelopmental disorder that may be associated with impaired Theory of Mind (ToM) and social cognition. ToM is a domain in social cognition, referring to one's ability to attribute beliefs, intents, perspectives, and understandings to oneself or others and to understand others' mental states.

Materials & methods: The present study enrolled 52 ADHD of adolescents and 41 healthy age-matched controls in this study. This study applied The Reading the Mind in The Eyes Task (RMET) and Theory of Mind Assessment Scale (Th.o.m.a.s.) for all participants. The results of these tasks were compared between the two study groups.

Results: No significant differences were found between these two study groups regarding ToM abilities using mean scores in the Th.o.m.a.s. inventory and the RMET. Furthermore, no association was found between the mean score in the ToM (in both study groups) and this study's parameters of gender, mean age, birth rank, family structure, and income.

Conclusion: This study did not support the hypothesis that adolescents with ADHD perform worse on ToM tasks.

Objectives: Febrile seizure (FS) is a neuroinflammatory disease involving fever-induced seizures affecting children in the early stages of life. TNFα is a pro-inflammatory cytokine reported to be elevated in FS. Specific promoter variants of TNFα could be associated with its elevated cytokine expression and susceptibility to FS. The present study analyzed the association of specific TNFα variants, including TNFα -238 G/A (rs361525), TNFα -308 G/A (rs1800629), and TNFα -376 G/A (rs1800750) promoter polymorphisms, with FS susceptibility, and TNFα serum levels in an Iranian population.

Materials & methods: Sixty-eight FS patients and 136 controls were enrolled. The SSP-PCR method was utilized to analyze TNFα promoter genotypes. This research also confirmed the genotyping results by sequencing samples of ten patients and normal controls.

Results: The GG genotype of -238 SNP was associated with the increased risk of FS [OR = 12.65, 95% CI (2.83-56.60), P-value = 0.0012]. The AA genotype in the-308 region was increased in patients with FS and associated with the disease [OR = 4.62, 95% CI (1.46-14.56), P-value = 0.028]. The increased occurrence of heterozygous AG in the -376 SNP among control groups has been linked to a decreased risk of FS [OR = 0.22, 95% CI (0.11-0.43), P-value = 0.0001]. This study revealed that AGA (-238/ -308/ -376) haplotype with the highest frequency in controls was associated with a decreased risk of FS, while GAA (-238/ -308/ -376) carriers were more susceptible to FS.

Conclusion: The current study suggested that TNFα gene promoter variants at rs361525, rs1800629, and rs1800750 could be associated with the susceptibility to FS and altered serum levels of TNFα.

Objective: Duchene Muscular dystrophy (DMD) is the common X-linked heterogenous progressive muscular dystrophy characterized by mutations in the DMD gene. The frequency of dystrophin gene mutations is varied in different DMD population. A precise diagnosis can help to reduce the severity of DMD since it aids in planning of targeted medical treatment and required therapies. This study was aimed to investigate the mutation type, their rate and distribution of DMD'S in southern India.

Materials & materials: An observational study was conducted on 250 genetically confirmed DMD patients from March,2019 to March,2021. The distribution pattern and rate of mutations (deletion, duplication, nonsense mutations, minor mutations) were investigated.

Results: Mutation spectrum was studied on 250 DMD patients, of which 63% exon deletion pattern were reported. 16% deletions were detected in proximal hot region (exons 3-28). The duplications were found 21% in the proximal hotspot largest region (exon 3-25). 16% of the patients reported single deletion (45 exon), 10.7% reported deletions of exon 44. Point mutations detected in 6%, small mutations were detected in 1.2%, non-sense mutations were detected in 2% of study population respectively. Missense Mutations were detected in 0.8% of study population.

Conclusion: This study estimates mutation spectrum of exon deletion pattern (63%) was predominantly identified in distal region; duplication was most frequent in proximal region. Point mutations, Nonsense mutations and small mutations have a least accountability. This study adds a real world evidence for developing research therapies in DMD.

COVID-19 is a pandemic disease in which most patients have pulmonary symptoms. However, several cases of CNS involvement associated with COVID-19 have been reported. Acute necrotizing encephalopathy of childhood (ANEC) is a rare CNS complication of viral infections such as influenza, herpes virus, and COVID-19, leading to high mortality and morbidity rates. Several cases of COVID-19-associated acute necrotizing encephalopathy (ANE) have been reported since March 2020 in adults, with just a few cases in pediatrics. This article reports a 5-month-old child who presented with seizures, with the final diagnosis of ANE as a complication of COVID-19. MRI findings of ANEC, as reported in most COVID-19-associated ANEC case reports, involve bilateral, symmetric, multifocal lesions in the central thalami. Moreover, the brainstem, cerebral white matter, and cerebellum could be affected. The prognosis of COVID-19-associated ANE is poor, leading to neurologic dysfunction or mortality. COVID-19-associated ANE cases must be reported, especially in pediatrics, with detailed clinical history, laboratory data, and radiologic findings to introduce diagnostic criteria, prognosis, and a management protocol.

Objectives: The objective assessment tests overcome the variability of subjective methods. Cortical recordings with gap pre-pulse inhibition of the acoustic startle reflex stimulus have been used as objective tinnitus assessments in humans. This study aims to investigate this possible objective tinnitus test and compare gap-induced inhibition in different stimulus parameters and brain regions.

Materials & methods: Twenty People (18-50 years old) without hearing loss and tinnitus were included. The sound stimuli consisted of continuous background noise with a loud startle tone preceded by a silent gap (20 and 40 ms duration, 120 and 150 ms distance from the startle). The N1-P2 complex amplitude and topoplot maps were extracted in 27-channel cortical response recording after signal processing. Four brain regions of interest (ROI) of anterior-frontal, centro-frontal, right, and left temporal were investigated.

Results: The results showed that the maximum inhibition occurred in a 40 ms gap duration and 150 ms distance in all 4 ROIs. In comparing ROIs, the centro-frontal and left temporal regions revealed the most inhibition (p<0.05). The decrease in the amplitude of the N1 and P2 in that region could also be traced in the 100 and 200 ms topoplots.

Conclusion: Gap-induced inhibition was observed in all gap-embedded stimuli and all ROIs. However, the 40-150 mode and centro-frontal and left temporal regions had maximum inhibition in normal subjects. It provides a promising tool for objectively assessing tinnitus in humans with particular implications in children.

The etiology of polyneuropathies varies in the pediatric population, where hereditary or metabolic disorders are far more common than in adults. However, treatable polyneuropathies, also prevalent in these settings, are those to prioritize. Moreover, diagnosing subacute and chronic symptoms in children can be challenging compared to adults. Therefore, selecting the best and most relevant laboratory investigations and paraclinical studies is critical. This taskcan be relatively challenging in countries with limited resources or insurance coverage. This study describe the various types of polyneuropathies found in children and their characteristics and suggest an algorithm for using the best laboratory tests in the context of the Iranian healthcare system.

Objectives: Migraine is a common disorder in children, and its prophylaxis with minimal side effects is momentous. This study aimed to compare the efficacy of Pregabalin and Sodium Valproate in preventing migraine attacks.

Material & methods: Sixty-four children (aged 6-18) with migraines were recruited, as defined by Internation Headache Criteria (ICHD-III). They were randomly assigned to two groups: Sodium Valproate (n=32) and Pregabalin (n=32). The minimum dosage of drugs was prescribed in both groups. The patients were followed for four months. The parameters such as frequency, intensity, duration of migraine attacks, and the number of painkillers that the patients used monthly were recorded. The Spence Children's anxiety scale was also used to evaluate medications' effect on patients' anxiety levels.

Results: Two medications were equally effective in reducing the intensity and duration of attacks. Additionally, their effect on reducing the anxiety level of patients was equal. There was a significant difference between the effect of drugs on the frequency of migraine attacks at the end of the first and fourth months and the number of painkillers used at the end of the fourth month. The frequency of attacks was decreased by more than 50% in twenty-eight patients (90%) of Pregabalin recipients and twenty-one patients (84%) of Sodium Valproate recipients.

Conclusion: Considering the better effect of Pregabalin in the reduction of frequency of migraine attacks and pain-reducing medications consumption, Pregabalin could be a proper substitute for Sodium Valproate for prophylactic migraine treatment in children.

COVID-19-associated acute transverse myelitis (ATM) cases have been reported worldwide. Nevertheless, Iran, Italy, and the USA are the most affected countries, witnessing the possibility that genetic factors might be associated with this susceptibility. The genetic variants of the coronavirus-2 entry mechanisms and host innate immune response-related genes like interferons, interleukins, Toll-like receptors, human leukocyte antigens, blood groups, and some risk loci may be accountable. This study describes the compatibility of the geographical distribution between ATM and the Neanderthal core haplotype that confers risk for severe COVID-19 and some possible culprit genes.

Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) is a rare autosomal recessive neurodegenerative disorder. As motor deficits are a core feature of MLC, the present study reported on an MLC1 patient's gross, fine, and oral motor functions. Our patient demonstrated macrocephaly, deterioration of motor functions with ataxia, spasticity, and intellectual disability. In addition to medical interventions, the patient received rehabilitation interventions of occupational therapy and speech therapy. Brain structures were analyzed with magnetic resonance imaging (MRI), and gross, fine, and oral motor functions were analyzed with Gross Motor Function Measurement (GMFM), Purdue Pegboard Test (PPT), and Oral Motor Assessment Scale (OMAS) at age two and after interventions at age five. The results showed that although the motor functions did improve due to the interventions, the patient still had weaknesses in gross, fine, and oral motor functions when compared to his peers. These findings emphasized the importance of early referral for rehabilitation of motor function in order to increase their independence, participation in daily tasks, and quality of life.