Iranian Journal of Child Neurology最新文献

{"title":"A Graph-Based Statistical Approach to Identifying Functional Connectivity Networks in Patients with Traumatic Brain Injury.","authors":"Samaneh Talebi, Fatemeh Pourmotahari, Keyvan Olazadeh, Hamid Alavi Majd, Seyyed Mohammad Tabatabaei","doi":"10.22037/ijcn.v19i1.44921","DOIUrl":"10.22037/ijcn.v19i1.44921","url":null,"abstract":"<p><strong>Objectives: </strong>Traumatic brain injury (TBI) is one of the most common types of brain injuries associated with cognitive impairments. Functional magnetic resonance imaging (fMRI) studies can provide a unique opportunity to examine brain connectivity patterns and understand the neural substrates of cognitive outcomes following traumatic injury. Therefore, this study aims to determine changes in functional connectivity patterns in patients with TBI compared to healthy individuals using two graph models, adaptive dense subgraph discovery (ADSD) and variance component.</p><p><strong>Materials & methods: </strong>This study used fMRI data downloaded from https://openneuro.org. These data included 14 patients with TBI aged between 18 and 36 and 12 healthy individuals (female: N=6, male: N=6) aged between 19 and 52. Out of the 74 regions examined, a cluster of 18 regions related to TBI was identified using the ADSD model. Subsequently, these identified regions were used as input for the variance component model to investigate changes in connectivity patterns.</p><p><strong>Results: </strong>Functional connectivity between an 18-brain region cluster, such as the Rectus (Left, Right), Supp_Motor_Area (Left, Right), and Middle Cingulum (Left, Right), differed between the patient and healthy groups. Based on the analysis of functional connectivity between pairs of brain regions, 153 connections between pairs of brain regions were compared in the two groups, out of which 63 connections showed significant differences between the two groups. Compared to other regions, Supp_Motor_Area_Right and Rectus_Left had more connections.</p><p><strong>Conclusion: </strong>The study's results indicate that the functional connectivity between the Cingulum, Hippocampus, Fusiform, Supp_Motor_Area, and Precentral regions differs between the two groups. Since these regions are involved in processes such as memory, learning, spatial orientation, face recognition, coordination, and motor control, changes in their functional connectivity may lead to impairments in these areas.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"65-77"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080009","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rafiq Syndrome: Old Variant in MAN1B1 Gene and Some New Phenotypic Features.","authors":"Nezir Özgün, Merve Saka Güvenç","doi":"10.22037/ijcn.v19i1.42376","DOIUrl":"10.22037/ijcn.v19i1.42376","url":null,"abstract":"<p><p>Rafiq syndrome is a congenital disorder of glycosylation type II that develops due to mutations in the Mannosidase Alpha Class 1B Member 1 (MAN1B1) gene encoding α 1,2-mannosidase. In the literature, 45 patients have been reported to date. This study presents a patient with some phenotypic traits that differ from previously reported patients with Rafiq syndrome.Since the patient was not diagnosed despite detailed examinations, whole exome sequencing was performed. The patientss' homozygous c.1000 C>T (p.Arg334Cys) pathogenic variant was detected in the MAN1B1 gene (NM_016219.5), which was consistent with Rafiq syndrome. Our patient's clinical findings were mainly similar to those of previously reported patients. However, our patient had feeding difficulty that started to improve after the fifth month and persistent hyperekplexia . Feeding difficulty and hyperekplexia concomitant to MAN1B1 gene mutation are reported for the first time. More extensive case series are needed to understand whether these findings are part of the syndrome or incidental comorbid conditions.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"121-126"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New-Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome Cases in Children: A Retrospective Cohort Study in South of Iran.","authors":"Hamid Nemati, Atena Modanlou, Eslam Shorafae, Razie Taghizade, Soroor Inaloo","doi":"10.22037/ijcn.v19i1.43172","DOIUrl":"10.22037/ijcn.v19i1.43172","url":null,"abstract":"<p><strong>Objectives: </strong>Epilepsy is one of the most common health problems in Iran. Considering this issue, the present study aimed to investigate New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) cases in children and evaluate the neurological outcome, referring to the special care department of Namazi Hospital, Shiraz, Iran.</p><p><strong>Materials & methods: </strong>Eight hundred seventy-three patients with status epilepticus (SE) referred to the medical centers of Shiraz Medical Sciences University were retrospectively examined from September 2021 to December 2022. After obtaining consent, the patients completed the questionnaire based on the literature review. Research data were collected and analyzed using SPSS version 23 software, t-test, Pearson correlation, and chi-square statistical methods.</p><p><strong>Results: </strong>The obtained results revealed that out of 873 patients with SE, 140 patients had inclusion criteria for NORSE and FIRSE (63 had NORSE, and 30 had FIRSE). The developmental status of the patient was good in 26.4% of cases and had minimal complications in 21.4% of cases. Mortality in the studied subjects was 33.6% (47 patients), and seizures were controlled in 63 patients (64.9). Furthermore, the results showed that the cause of epilepsy in 47 people (33.6%) of the investigated people was infection/inflammation. Furthermore, no correlation was observed between the gender and age of the patients and the investigated outcomes (p-value>0.05). Only in seizure control, a significant difference was observed between the females and males (p-value<0.05).</p><p><strong>Conclusion: </strong>This study concluded that the rate of NORSE and FIRES in the examined children is high. Moreover, one-third of these patients will not have a chance to survive. The results of the present study emphasize the need for more comprehensive studies in this field.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"15-23"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation between Electrodiagnostic Findings and Cerebrospinal Fluid Changes in Children with Guillain-Barre syndrome.","authors":"Maryam Noory, Kambiz Eftekhari, Hosein Shabani-Mirzaee, Mohammad Barzegar, Armen Malekiantaghi","doi":"10.22037/ijcn.v19i1.44703","DOIUrl":"10.22037/ijcn.v19i1.44703","url":null,"abstract":"<p><strong>Objectives: </strong>Guillain-Barré syndrome (GBS) involves the peripheral nervous system developed by infections or immune conditions. Cerebrospinal fluid (CSF) analysis and electrodiagnostic tests are essential diagnostic methods for GBS. However, limited data are available on how the findings from these methods relate to each other. This study aimed to evaluate changes in CSF analysis and electrodiagnostic tests in pediatrics with GBS.</p><p><strong>Materials & methods: </strong>The present study retrospectively evaluated electrodiagnostic tests and CSF changes in pediatrics with GBS who were admitted to Tabriz Hospital, Iran, from 2010 to 2020 due to CBS. Patients' data, including age, gender, CSF analysis, and electrodiagnostic test results, were recorded from the patients' files. Electrodiagnostic data included pace and amplitude of tibial, median, peroneal, sural, ulnar nerves, nerve conduction velocity (NCV), F-wave, and motor unit action potential (MUAP). The significance level was considered less than 0.05.</p><p><strong>Results: </strong>The mean age of patients was 4.83±2.72 years, and 54.6% were boys. The most common type of GBS involvement was demyelinating type. No gender differences were found between involved nerves unless the ulnar nerve was significantly more involved in girls (P-value: 0.012). The obtained findings indicated no significant relationship between electrodiagnostic tests and CSF protein (P-value: 0.439).</p><p><strong>Conclusion: </strong>No association was observed between electrodiagnostic results and CSF changes in pediatrics with GBS.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"37-44"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From Diabetes to Neuropathy: A Diagnostic Journey to Leigh Syndrome.","authors":"Arya Behzadi, Pooya Poormehr, Hedyeh Saneifard, Marjan Shakiba","doi":"10.22037/ijcn.v19i1.46085","DOIUrl":"10.22037/ijcn.v19i1.46085","url":null,"abstract":"<p><p>Diabetes is one of the most common chronic disorders in the world, characterized by chronic hyperglycemia. Among the rare causes of diabetes, Leigh syndrome is a rare genetic mitochondrial disorder with unusual manifestations like neurological deficits in addition to typical diabetes symptoms. This report enlightens others about the unusual presentation of diabetes in a pediatric population. The studied case is a 6-year-old girl with hypothyroidism and diabetes. Post-SARS-CoV-2 infection, she developed progressive lower limb weakness. Magnetic resonance imaging (MRI) and electromyography-nerve conduction velocity (EMG-NCV) revealed brain lesions and polyneuropathy. Genetic testing using whole exome and Sanger sequencing confirmed mitochondrial gene mutations in the MT-NDI location, diagnosing her with Leigh syndrome. Pediatric diabetic patients typically present with Type 1 diabetes mellitus (T1DM) or Type 2 diabetes mellitus (T2DM), but other causes must be considered. Leigh syndrome can manifest with neurological symptoms, requiring clinicians to recognize its diverse presentations for proper management. This case highlights the importance of considering rare etiologies for diabetes to improve the prognosis and quality of life.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"113-119"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Haberland Syndrome (Encephalocraniocutaneous Lipomatosis): A Case Report and Review of Literature.","authors":"Ala Torabi, Reza Shervin Badv, Masoud Mohammadpour, Fatemeh Zamani, Masoumeh Sadat Sadeghzadeh, Neda Pak","doi":"10.22037/ijcn.v19i1.37492","DOIUrl":"10.22037/ijcn.v19i1.37492","url":null,"abstract":"<p><p>Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare, nonhereditary, nonprogressive congenital neurocutaneous syndrome with underlying ectodermal dysgenesis. The classic triad of this syndrome is central nervous system (CNS), ocular, and cutaneous involvement as unilateral lipomatous lesions of the scalp, neck, and face with ipsilateral brain anomalies and ipsilateral ocular choristoma. Herein, this study reports a case of a 2-year-old boy presented with status epilepticus for the first time. Intraspinal lipoma, arachnoid cyst, cerebral hemiatrophy, asymmetric hydrocephaly, choristoma, and corneal clouding were noted. This case fulfilled Moog's clinical criteria for diagnosis of Haberland syndrome. Additionally, this study introduces linear and whorled nevoid hypermelanosis and cerebral periventricular white matter hyperintensity as novel manifestations of this syndrome.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"127-133"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impacts of hippotherapy simulation on balance, postural control, and spasticity of thigh adductor muscles in children with spastic bilateral Cerebral Palsy: A single-blind clinical trial study.","authors":"Kiana Ramezani, Minoo Kalantari, Marzieh Pashmdarfard, Alireza Akbarzadeh Baghba, Ghodrat Khavari","doi":"10.22037/ijcn.v19i1.46567","DOIUrl":"10.22037/ijcn.v19i1.46567","url":null,"abstract":"<p><strong>Objectives: </strong>Cerebral Palsy (CP) is a group of movement disorders. A recently proposed occupational therapy approach to reduce spasticity and improve balance and postural control is Hippotherapy Simulation (HS). The present study attempts to investigate how HS impacts balance, postural control, and spasticity of adductor muscles in children with spastic bilateral CP.</p><p><strong>Materials & methods: </strong>Thirty-one children with bilateral spastic CP, five to nine years old, were selected via availability sampling and divided into the intervention group (n=16) and the control (n=15) through stratified block randomization. Assessment tools, including Pediatric Balance Scale (PBS), Trunk Control Measurement Scale (TCMS), Modified Ashworth Scale (MAS), Gross Motor Function Measure (GMFM), Pediatric Evaluation of Disability Inventory (PEDI), and goniometry, were completed by an assessor unaware of the children's grouping.</p><p><strong>Results: </strong>After the intervention, the average total scores of all variables in the HS group significantly exceeded those in the control group (P<0.01). However, no significant differences were observed between the groups at follow-up, underlining the necessity of providing long-term or recurrent interventions to maintain improvements in gross motor function. This approach also constructively influenced postural control and mitigated the spasticity of adductor thigh muscles.</p><p><strong>Conclusion: </strong>This study showed the multimodal effect of simulated hippotherapy combined with occupational therapy routine exercises on the physical performance of children with bilateral spastic CP.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"79-96"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the Prevalence of Neurological Soft Signs in Children with Autism Spectrum Disorder and their Siblings: A Cross-Sectional Study.","authors":"Katayoon Razjouyan, Abbas Babazadeh Dezfoly, Rozita Davari Ashtiani, Mojgan Khademi, Fariba Arabgol, Mohammad Javad Nasiri, Nahid Piri, Mohammad Ali Miri","doi":"10.22037/ijcn.v19i1.44589","DOIUrl":"10.22037/ijcn.v19i1.44589","url":null,"abstract":"<p><strong>Objectives: </strong>Autism is determined by children's inability to communicate with others through language. More studies have shown that neurological soft signs (NSS) can be one of the symptoms of psychiatric disorders, including schizophrenia. However, complete and proven evidence regarding the role of NSS in the pathogenesis of autism has not been determined. For this purpose, this research investigated the prevalence of NSS in children with autism spectrum and their siblings and compared it with the control group.</p><p><strong>Materials & methods: </strong>The current study was cross-sectional. In this study, thirty-two children aged 7-17 who had been referred to the pediatric psychiatry clinics of Imam Hossein Hospital and the Autism Charitable Association in Tehran, Iran, were entered; they were diagnosed with an autism disorder by a child and adolescent psychiatrist based on the DSM-5 diagnostic criteria. Furthermore, thirty-two siblings of children with autism in the age group of 7-17 years who did not have any neurological and mental disorders were included; thirty-two healthy individuals (controls) who did not have any disorders were evaluated with the K-SADS checklist. Gilliam Autism Rating Scale 3rd Edition (GARS-3) was also used to confirm the diagnosis and severity of the disease.</p><p><strong>Results: </strong>The results showed that the incidence of NSS in the patient group was higher than in the other two groups, which was statistically significant (p<0.05). Furthermore, the results indicated that these signs had a high diagnostic value in identifying patients from healthy people.</p><p><strong>Conclusion: </strong>In general, using the NSS score in patients with autism can be considered a prediction factor compared to their siblings. In addition, the score had no effect on the prediction between sibling and control subjects.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"25-35"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causes of Neonatal Stroke: Ibn Thalaj's (Died in 975 AD) Viewpoints.","authors":"Mohammad Hossein Asadi, Saeed Changizi-Ashtiyani, Saeed Amini","doi":"10.22037/ijcn.v19i1.37978","DOIUrl":"10.22037/ijcn.v19i1.37978","url":null,"abstract":"<p><p>Although stroke has long been recognized as an adult health problem that causes significant morbidity and mortality, it is also an important cause of brain injury in infants and children. The present article deals with this issue from the perspective of medical history. Physicians have tried throughout history to diagnose and treat this disease. One of the physicians who first accurately described this disease was Ibn Thalaj, who died in 975 AD. The hypotheses that he has raised about the causes of neonatal stroke, along with his recommendations for prevention and treatment, are intriguing. Exploring these hypotheses highlights the ongoing human endeavor to comprehend and combat diseases.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"9-13"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Encephalopathy and Refractory Hypokalemia in a 12-Year-Old Boy.","authors":"Toktam Moosavian, Zahra Pournasiri, Shiva Fatollahierad","doi":"10.22037/ijcn.v19i1.45350","DOIUrl":"10.22037/ijcn.v19i1.45350","url":null,"abstract":"<p><p>Wilson disease is an inherited disorder characterized by copper accumulation in various organs, leading to a wide range of clinical manifestations depending on the deposition site. Typically, symptoms of Wilson disease emerge between the ages of 5 and 35 years, primarily presenting with neurological and hepatic symptoms. This case report describes a 12-year-old boy diagnosed with Wilson disease based on low serum ceruloplasmin levels and elevated 24-hour urinary copper levels. His initial presentation included acute encephalopathy and tubulopathy with persistent hypokalemia. This case highlights the importance of a thorough evaluation, including neurological and renal assessments, to determine the underlying cause of acute encephalopathy, such as Wilson disease. Furthermore, this case shows that Wilson disease can manifest with neurological and kidney presentations despite a normal hepatic evaluation.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 1","pages":"107-112"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}