Iranian Journal of Child Neurology最新文献

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The Effects of Family Functioning on Gross Motor Function, Activity, and Participation in Children with Cerebral Palsy. 家庭功能对大脑性麻痹儿童粗大运动功能、活动和参与的影响。
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-01-18 DOI: 10.22037/ijcn.v18i1.32271
Muhammed Samed Dalakçi, Anıl Özüdoğru, Caner Kararti
{"title":"The Effects of Family Functioning on Gross Motor Function, Activity, and Participation in Children with Cerebral Palsy.","authors":"Muhammed Samed Dalakçi, Anıl Özüdoğru, Caner Kararti","doi":"10.22037/ijcn.v18i1.32271","DOIUrl":"10.22037/ijcn.v18i1.32271","url":null,"abstract":"<p><strong>Objectives: </strong>The present study aimed to investigate whether family functioning (FF) could impact gross motor function, activity, and participation in children with cerebral palsy (CP).</p><p><strong>Materials & methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>These factors can enable healthcare providers to collaborate with the families to develop more comprehensive intervention plans emphasizing family strengths and supporting their needs.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10874512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905618","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}
引用次数: 0
Migraine and Epilepsy in Children: A Narrative Review of Comorbidity and Similar Treatment Option. 儿童偏头痛与癫痫:并发症和类似治疗方案的叙述性综述。
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-06-22 DOI: 10.22037/ijcn.v18i3.44282
Ali Akbar Momen, Gholamreza Jelodar, Reza Azizimalamiri
{"title":"Migraine and Epilepsy in Children: A Narrative Review of Comorbidity and Similar Treatment Option.","authors":"Ali Akbar Momen, Gholamreza Jelodar, Reza Azizimalamiri","doi":"10.22037/ijcn.v18i3.44282","DOIUrl":"10.22037/ijcn.v18i3.44282","url":null,"abstract":"<p><p>Migraine and epilepsy belong to the category of chronic paroxysmal neurological disorders and share numerous clinical features, as well as potential treatment options. This narrative review emphasizes the similarities between pediatric migraine and epilepsy, exploring epidemiology, pathophysiology, genetics, clinical presentation, and pharmacology. Although various syndromes exhibit symptoms common to both conditions, further research is needed to clarify the underlying pathophysiological and genetic connections contributing to their coexistence. Prophylactic medications used in the management of both migraines and epilepsy exhibit similar pharmacological characteristics. The review assesses treatment strategies for epilepsy and migraines, emphasizing antiseizure medications alongside nonpharmacological interventions like ketogenic diet, supplements, and vagal nerve stimulation. It aims to highlight how these interventions, originally targeted for epilepsy, may also show promise in preventing migraines. The urgent need for further randomized, controlled clinical trials investigating both pharmacological and nonpharmacological interventions for treating both disorders is emphasized, aiming to pave the way for innovative therapeutic strategies.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11231672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579709","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}
引用次数: 0
Comparison of Phototherapy Effect with and without Phenobarbital on the Newborns with Hyperbilirubinemia. 有无苯巴比妥对高胆红素血症新生儿光疗效果的比较
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-03-12 DOI: 10.22037/ijcn.v18i2.36848
Ahmad Shah Farhat, Reza Saeidi, Ashraf Mohammadzadeh, Saeid Reza Lotfi, Mahmoud Hajipour
{"title":"Comparison of Phototherapy Effect with and without Phenobarbital on the Newborns with Hyperbilirubinemia.","authors":"Ahmad Shah Farhat, Reza Saeidi, Ashraf Mohammadzadeh, Saeid Reza Lotfi, Mahmoud Hajipour","doi":"10.22037/ijcn.v18i2.36848","DOIUrl":"10.22037/ijcn.v18i2.36848","url":null,"abstract":"<p><strong>Objectives: </strong>Jaundice occurs in 60% of full-term and 80% of pre-term newborns. This study compared the effect of phototherapy with and without phenobarbital on icteric newborns.</p><p><strong>Materials & methods: </strong>This study is a randomized clinical trial conducted from July until March 2018 at Imam Reza Hospital, Mashhad University of Medical Science, Iran. Full-term and near-term neonates with more than 2000 grams who were hospitalized in the mentioned period for jaundice were entered into the study. The newborns were divided into two groups using block randomization. Data were analyzed by SPSS version 19.</p><p><strong>Results: </strong>The average gestational age was 36.4 weeks (SD 2.39) in the intervention group and 36.9 weeks (SD 2.16) in the control group, with no significant difference between them. The mean hospital stay for the intervention group was 72 hours (SD 1.66), compared to 55 hours (SD 1.88) for the control group. At discharge, the serum bilirubin level in the intervention group was 11.53 mg/dL (SD 0.77), while it was 10.80 mg/dL (SD 1.09) in the control group, a statistically significant difference.</p><p><strong>Conclusion: </strong>According to this study, phototherapy with phenobarbital is not more effective than phototherapy alone in neonatal hyperbilirubinemia.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11015727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140849533","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}
引用次数: 0
Brown-Vialetto-Van Laere syndrome. 布朗-维亚莱托-范拉雷综合征
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-03-12 DOI: 10.22037/ijcn.v18i2.37314
Shima Imannezhad, Ehsan Ghayoor Karimiani, Majid Sezavar, Gholam Reza Khademi, Maryam Naseri, Farah Ashrafzadeh
{"title":"Brown-Vialetto-Van Laere syndrome.","authors":"Shima Imannezhad, Ehsan Ghayoor Karimiani, Majid Sezavar, Gholam Reza Khademi, Maryam Naseri, Farah Ashrafzadeh","doi":"10.22037/ijcn.v18i2.37314","DOIUrl":"10.22037/ijcn.v18i2.37314","url":null,"abstract":"<p><p>Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder of childhood. According to the previous reports, it has various primary signs and symptoms. Because of the simple treatment with riboflavin supplementation, it is important to have suspicious to this disease and begin treatment even before genetic test confirm. We report a five-year-old girl with BVVLS that manifest with hearing problems, first. There was obvious improvement in her disease clinical signs with riboflavin supplementation treatment.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11015728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140851523","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}
引用次数: 0
The Value of Long-term Video EEG Monitoring to Diagnose and Track Childhood Epilepsy. 长期视频脑电图监测对诊断和追踪儿童癫痫的价值。
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-01-18 DOI: 10.22037/ijcn.v18i1.43012
Mahmood Mohammadi, Reza Shervin Badv, Zahra Rezaei, Mahmoodreza Ashrafi, Fatemeh Naeemi
{"title":"The Value of Long-term Video EEG Monitoring to Diagnose and Track Childhood Epilepsy.","authors":"Mahmood Mohammadi, Reza Shervin Badv, Zahra Rezaei, Mahmoodreza Ashrafi, Fatemeh Naeemi","doi":"10.22037/ijcn.v18i1.43012","DOIUrl":"10.22037/ijcn.v18i1.43012","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Materials & methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10874508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905666","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}
引用次数: 0
Maternal Smoking during Pregnancy and its effects on Neural Tube Defects. 孕妇在怀孕期间吸烟及其对神经管畸形的影响。
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-06-22 DOI: 10.22037/ijcn.v18i3.41499
Zeynab Elahi, Farideh Hassanzadeh, Mohammad Satarzadeh
{"title":"Maternal Smoking during Pregnancy and its effects on Neural Tube Defects.","authors":"Zeynab Elahi, Farideh Hassanzadeh, Mohammad Satarzadeh","doi":"10.22037/ijcn.v18i3.41499","DOIUrl":"10.22037/ijcn.v18i3.41499","url":null,"abstract":"<p><strong>Objectives: </strong>Maternal smoking is a potent teratogen among congenital malformations, however its role in the development of Neural Tube Defects (NTDs) is still unclear. In this systematic review, we intend to further investigate the interaction of smoking during pregnancy and the incidence of NTDs.</p><p><strong>Materials & methods: </strong>This article was written according to PRISMA criteria from February 2015 and August 2022. After examining the four stages of PRISMA criteria, we selected clinical articles. These articles were selected from PubMed, Scopus and Google scholar (for results follow-up) databases. We gathered NTDs effect and types, smoking type and habit of parents, from neonates.</p><p><strong>Results: </strong>Eventually, 8 articles were included by two separated authors, Smoking was associated with an increase NTDs in the population of pregnant mothers and also among children whose fathers smoked. The main side effects that were considered to be the cause of NTDs besides smoking were alcohol and BMI (18.5-24.9). Smoking also affects the level of folic acid as a substance with an essential role that affects the closure of the neural tube. folic acid available to infants changing along with the level of other blood elements such as zinc, that necessary prevent for NTDs condition.</p><p><strong>Conclusion: </strong>Parental smoking can be considered as one of the strong teratogens in the occurrence of NTDs. Smoking, whether active or passive by the mother, or by the father, is associated with the occurrence of NTDs, In order to reduce the prevalence this disorder, we advise pregnant mothers and neonate's fathers to quit smoking.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11231676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579708","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}
引用次数: 0
Exploring the Phenotypic Profile of Acute Flaccid Paralysis: Insights from a Third-Level Pediatric Emergency Room. 探索急性弛缓性麻痹的表型特征:来自三级儿科急诊室的启示。
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-09-29 DOI: 10.22037/ijcn.v18i4.43749
Sareh Hosseinpour, Roxana Pazouki, Mahmoud Reza Ashrafi, Maryam Bemanalizadeh, Masood Ghahvechi Akbari, Sanaz Rezaei, Nima Parvaneh, Morteza Heidari, Mohammad Vafaee-Shahi, Firouzeh Hosseini, Sayna Bagheri, Ali Reza Tavasoli
{"title":"Exploring the Phenotypic Profile of Acute Flaccid Paralysis: Insights from a Third-Level Pediatric Emergency Room.","authors":"Sareh Hosseinpour, Roxana Pazouki, Mahmoud Reza Ashrafi, Maryam Bemanalizadeh, Masood Ghahvechi Akbari, Sanaz Rezaei, Nima Parvaneh, Morteza Heidari, Mohammad Vafaee-Shahi, Firouzeh Hosseini, Sayna Bagheri, Ali Reza Tavasoli","doi":"10.22037/ijcn.v18i4.43749","DOIUrl":"10.22037/ijcn.v18i4.43749","url":null,"abstract":"<p><strong>Objectives: </strong>Acute Flaccid Paralysis (AFP) in children can stem from a diverse array of potential diagnoses.</p><p><strong>Materials & methods: </strong>This retrospective study sought to diagnose children referred to a referral pediatric emergency unit with AFP between 2011 and 2016. The study gathered clinical observations, conducted stool and cerebrospinal fluid analyses, and assessed electrophysiological and imaging data.</p><p><strong>Results: </strong>The present study enrolled 118 fully immunized children with a mean age of 6.09 ± 3.60 years. The most prevalent diagnoses included Guillain-Barré Syndrome (GBS-80 cases), acute viral myositis (20 cases), Transverse Myelitis Syndrome (TMS) (TMS-6 cases), and Vaccine-Associated Paralytic Poliomyelitis (VAPP) (VAPP-6 cases). All these six patients had primary immunodeficiency. Notably, all patients tested negative for poliovirus in stool analyses. This study encountered a unique case of a 2.5-month-old male patient who presented with acute limb motor weakness, along with fever, irritability, new-onset hypotonia, and generalized decreased deep tendon reflexes. Notably, no signs of upper motor neuron involvement were found. The Cerebrospinal Fluid (CSF) analysis was compatible with the diagnosis of viral meningitis. Moreover, among the 60 brain and spinal imaging series performed, five were indicative of GBS, six cases showed evidence of TMS, and one revealed a spinal mass. Besides, clinical investigations pointed toward acute viral myositis as a secondary etiology of AFP in 20 patients in this study.</p><p><strong>Conclusion: </strong>In this hospital-based study, the most frequent diagnoses for children arriving at a third-level pediatric Emergency Room (ER) with acute flaccid paralysis AFP were GBS, acute viral myositis, TMS, and VAPP). These findings suggest a distinct pattern of AFP causes compared to those found in community-based epidemiological studies. Additionally, notably, unusual conditions, such as viral meningitis, can rarely present with AFP-like symptoms. Assessment for primary immune deficiency should be considered in cases of VAPP. Lastly, this research has implemented a pediatric AFP Management Protocol: A Local Practical Approach.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545462","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}
引用次数: 0
Dehydrogenase (DLD) Deficiency in an Iranian Patient with Recurrent Intractable Vomiting: Successful Treatment with Thiamine Supplementation. 一名反复发作的顽固性呕吐伊朗患者缺乏脱氢酶 (DLD):通过补充硫胺素成功治疗。
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-01-18 DOI: 10.22037/ijcn.v18i1.38971
Toktam Moosavian, Ghazaleh Jamalipour Soufi, Sharareh Kamfar
{"title":"Dehydrogenase (DLD) Deficiency in an Iranian Patient with Recurrent Intractable Vomiting: Successful Treatment with Thiamine Supplementation.","authors":"Toktam Moosavian, Ghazaleh Jamalipour Soufi, Sharareh Kamfar","doi":"10.22037/ijcn.v18i1.38971","DOIUrl":"10.22037/ijcn.v18i1.38971","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10874511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905577","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}
引用次数: 0
Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene. 在一个伊朗家庭中发现与常染色体隐性遗传 3 型智力障碍有关的 CC2D1A 基因新变异,并研究该基因的结构和多效应。
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-01-18 DOI: 10.22037/ijcn.v18i1.42188
Zahra Rashvand, Hossein Najmabadi, Kimia Kahrizi, Hossein Mozhdehipanah, Mohammad Moradi, Zohreh Estaki, Khadijeh Taherkhani, Nooshin Nikzat, Reza Najafipour, Mir Davood Omrani
{"title":"Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene.","authors":"Zahra Rashvand, Hossein Najmabadi, Kimia Kahrizi, Hossein Mozhdehipanah, Mohammad Moradi, Zohreh Estaki, Khadijeh Taherkhani, Nooshin Nikzat, Reza Najafipour, Mir Davood Omrani","doi":"10.22037/ijcn.v18i1.42188","DOIUrl":"10.22037/ijcn.v18i1.42188","url":null,"abstract":"<p><strong>Objectives: </strong>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. <i>CC2D1A</i> 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.</p><p><strong>Materials & methods: </strong>n 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 <i>CC2D1A</i> gene, and then the structure of the gene and its reported variants were investigated.</p><p><strong>Results: </strong>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 <i>CC2D1A</i> 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.</p><p><strong>Conclusion: </strong>This study reports the fifth novel, probably pathogenic variant in the <i>CC2D1A</i> 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 <i>CC2D1A</i> 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.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10874518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905580","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}
引用次数: 0
Volume-based and Surface-Based Methods in Autism Compared with Healthy Controls Are Free surfer and CAT12 in Agreement? 与健康对照组相比,自闭症患者的体积法和表面法是否一致?
IF 0.8
Iranian Journal of Child Neurology Pub Date : 2024-01-01 Epub Date: 2024-01-18 DOI: 10.22037/IJCN.V18i1.43294
Reyhane Faraji, Zohreh Ganji, Zahra Khandan Khadem, Hossein Akbari-Lalimi, Fereshteh Eidy, Hoda Zare
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