Iranian Journal of Child Neurology最新文献

{"title":"Clinical and Epidemiological Findings of Pediatric Onset Multiple Sclerosis in East-Azerbaijan, Iran; A Population-based Study.","authors":"Ehsan Nasiri,&nbsp;Amirreza Naseri,&nbsp;Mahnaz Talebi","doi":"10.22037/ijcn.v17i2.34417","DOIUrl":"10.22037/ijcn.v17i2.34417","url":null,"abstract":"<p><strong>Objectives: </strong>Multiple sclerosis (MS) is among the most prevalent chronic immune-mediated inflammatory diseases. If MS onset is under 18, it is defined as pediatric-onset MS (POMS). This study aimed to determine the clinical and epidemiological aspects of POMS.</p><p><strong>Materials & methods: </strong>This population-based study was conducted in East-Azerbaijan (EA) province and concerned POMS patients. The data concerning almost all of the POMS patients of the province was gathered from the only MS registry center in the university hospital of the Tabriz University of Medical Sciences by the end of 2017. The diagnosis of patients was based on McDonald's criteria.</p><p><strong>Results: </strong>Out of 2976 total cases of MS, eighty-five (2.85%) were POMS. The overall regional prevalence of POMS was 11.67 per 100,000 (95% CI:9.43-11.43). Sixty-seven cases were female (prevalence: 18.94 per 100,000 [95% CI:14.91-24.07], and eighteen were male (prevalence: 4.80 per 100,000 [95% CI:3.03-7.62]. The crude regional incidence in 2017 was 1.37/100,000 (95% CI:0.74-2.55). The mean age of onset was 15.81±1.33 years, with a minimum age of 12. 71.76% of the patients were diagnosed in the 16- or 17-years old age group. 7.05% had a positive family history, and 87.5% of the patients diagnosed the disease promptly. The most common first clinical presentations were blurred vision (43.75%), sensory (28.12%), cerebellar (15.62%), and brainstem (9.37%) symptoms.</p><p><strong>Conclusion: </strong>POMS is not a rare condition, and it mainly affects females. POMS prevalence increases significantly after age 15 years old, and the first manifestation of the disease is usually blurred vision.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 3","pages":"109-119"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c9/25/ijcn-17-109.PMC10448846.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10101290","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":"Comparing Auditory Brain Stem Responses and Transient Otoacoustic Emissions in Premature Infants with Auditory Developmental Delay: Evidence of Temporary Auditory Neuropathy.","authors":"Malihah Mazaheryazdi, Mohammad Amin Sharafi, Mehdi Akbari, Farhad Abolhasan Choobdar","doi":"10.22037/ijcn.v17i4.42882","DOIUrl":"10.22037/ijcn.v17i4.42882","url":null,"abstract":"<p><strong>Objectives: </strong>Premature birth causes some permanent or temporary abnormalities in the hearing system of the newborn. Inadequate development of the central auditory nervous system and balance, as well as the delay in the formation of the nerve myelin, can be the cause of many hearing disorders, including permanent or temporary auditory neuropathy spectrum disorder (ANSD). The present study aims to identify and understand developmental delay disorder in the hearing system of infants and investigate the possibility of temporary auditory neuropathy in infants.</p><p><strong>Materials & methods: </strong>In this comparative analytical study, twenty premature infants were randomly selected for hearing tests using auditory brainstem response and transient otoacoustic emissions at the time of discharge and three months after the first evaluation. The different components of these tests were analyzed and compared before and after developing the auditory system.</p><p><strong>Results: </strong>The OAEs test showed a signal-to-noise ratio above six dB with appropriate amplitudes in all infants. The grand average waveform of the ABR showed a significant difference between the amplitudes of waves III and V before and after maturation in both ears (p<0.05). In addition, the absolute latency of waves, specifically III and V, showed a significant difference between the two assessment times (0.05).</p><p><strong>Conclusions: </strong>The present study confirmed the occurrence of temporary ANSD or delayed maturation in premature infants following the lack of complete growth and myelination of auditory nerve fibers. There is a need to determine the hearing status of premature infants by frequent examinations and prevent any unnecessary prescription of amplifications.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 4","pages":"35-44"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10704287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138796323","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":"The Role Of Fine Motor Abilities In Reading Components: A Cross-Sectional Study In Children With And Without Dyslexia.","authors":"Reza Barghandan, Hooshang Dadgar, Parvin Raji, Saman Maroufizadeh","doi":"10.22037/IJCN.v17i4.38710","DOIUrl":"10.22037/IJCN.v17i4.38710","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to investigate the relationship between fine motor skills and reading components and compare the fine motor skills of normal children and children with dyslexia.</p><p><strong>Materials & methods: </strong>In this study, 47 children with dyslexia children and 47 normal children in the first to the third grade of elementary school in the age range of seven to nine years were examined with the Bruininks-Oseretsky Test of Motor Proficiency and NEMA reading test. Data were analyzed using Kolmogorov-Smirnov, Shapiro-Wilk, U Mann-Whitney methods, multiple linear regression, and Spearman correlation coefficient.</p><p><strong>Results: </strong>The results showed children with dyslexia were significantly weaker in fine motor skills than normal children (p <0.001). In addition, a relationship existed between the subtest of response speed and reading accuracy in normal children, but it was in normal children. A significant relationship was found between visual-motor control subtests and Upper-limb speed and dexterity with reading accuracy and speed. None of the motor subtests were related to reading comprehension. In children with dyslexia, no association was found between motor subtests and reading components.</p><p><strong>Conclusion: </strong>Seemingly, fine motor skills can be used as an essential factor along with other effective factors in improving the reading skills of children with reading disabilities.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 4","pages":"23-33"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10704294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138796599","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":"Post Herpetic Anti-NMDA- Receptor Encephalitis in an 18-month-old Infant.","authors":"Hossein Eslamiyeh,&nbsp;Reihane Ranjbar Jamalabadi,&nbsp;Mohsen Askarbioki","doi":"10.22037/ijcn.v17i2.35356","DOIUrl":"https://doi.org/10.22037/ijcn.v17i2.35356","url":null,"abstract":"<p><p>Herpes simplex encephalitis (HSE), caused by herpes simplex virus type 1 (HSV-1), is the most common cause of severe sporadic encephalitis worldwide. HSE is occasionally accompanied by the recurrence of clinical symptoms that usually occur a few weeks following the initial infection. According to recent studies, the recurrence can be due to a secondary autoimmune mechanism rather than the virus invasion. One of the most common etiologies for autoimmunity is Anti-N-Methyl-D-Aspartate receptor encephalitis. This disorder is a treatable autoimmune encephalitis manifesting as movement disorder or neuropsychological involvement.</p><p><strong>Case presentation: </strong>The article pertains to the presentation of an 18-month-old infant with a primary diagnosis of herpetic encephalitis who was re-admitted to the hospital shortly after discharge with restlessness, speech disorder, and abnormal movements. The movements were predominantly choreiform and disappeared during sleep. Brain MRI revealed abnormal predominance in the left temporoparietal regions with encephalomalacic changes in some areas in favor of sequella of previous encephalitis in addition to recent right temporal involvement of sequella of previous encephalitis. The polymerase chain reaction test of cerebrospinal fluid for herpes simplex infection was negative. Therefore, the possibility of autoimmune encephalitis was raised. More laboratory examinations revealed that the Anti-N-Methyl-D-Aspartate receptor antibody level was significantly elevated in cerebrospinal fluid. Thus, the diagnosis of Anti-N-Methyl-D-Aspartate receptor encephalitis was established.</p><p><strong>Conclusion: </strong>Relapsing symptoms after herpes simplex virus encephalitis, especially with movement disorders, should raise a high clinical suspicion of Anti-N-Methyl-D-Aspartate receptor encephalitis in children. Therefore, clinicians should be cautious of its occurrence in infants; despite its rarity in that age group.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 2","pages":"167-171"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/60/63/ijcn-17-167.PMC10114269.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9551349","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":"The Association of Acute Motor Axonal Neuropathy (Guillain-Barre' Syndrome Variant) with Coronavirus (SARS-Cov-2) in a Child: A Case Report.","authors":"Alireza Nateghian,&nbsp;Mozhde Mohammadpour,&nbsp;Naseh Yousefi,&nbsp;Mohammad Sadegh Khabbaz,&nbsp;Katayoun Moradi","doi":"10.22037/ijcn.v17i2.35849","DOIUrl":"https://doi.org/10.22037/ijcn.v17i2.35849","url":null,"abstract":"<p><p>Various reports of neurological manifestations of SARS-COV-2 infection after the virus outbreak are available, including anosmia, seizures, acute flaccid myelitis, Guillain-Barré syndrome (GBS), and encephalitis. Most of the literature has focused on the respiratory manifestation of SARS-CoV-2 infection in adults, but recent evidence showed that it is not confined to the respiratory tract. This report is about a rare variant of GBS acute motor axonal neuropathy (AMAN) in a child due to COVID-19 infection An 11 years old boy was referred to the hospital with a history of three-day lasting mild fever, and gastroenteritis, two weeks before starting symptoms. He was presented with progressive ascending weakness, paresthesia, and areflexia in four limbs four days ago. Nasopharyngeal swab polymerase chain reaction (PCR) was positive for SARS-CoV-2. The electrodiagnostic finding was compatible with acute generalized axonal motor neuropathy, and imaging revealed thoracolumbar syrinx and nerve root enhancement in lumbosacral MRI. Other lab tests were normal. GBS and its variant are one of the manifestations of SARS-CoV-2 in children. Children with an unexplained neurological process should be tested for SARS-CoV-2.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 2","pages":"163-166"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6c/a1/ijcn-17-163.PMC10114280.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9559004","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":"Autoimmune Encephalitis Due to COVID-19 in a Young Patient.","authors":"Forough Derakhshani,&nbsp;Mohammadreza Ghazavi,&nbsp;Neda Hosseini","doi":"10.22037/ijcn.v17i2.38280","DOIUrl":"https://doi.org/10.22037/ijcn.v17i2.38280","url":null,"abstract":"<p><p>Autoimmune encephalitis is an inflammatory condition caused by different factors, including viral infections, diagnosed after ruling out other causes of encephalitis. The current study reported novel autoimmune encephalitis in an 11-year-old girl who presented with seizures, cognitive dysfunction, and neurological impairments. During the admission, the researchers observed high levels of anti-N-methyl-D-aspartate receptor (NMDAR) antibodies in the cerebrospinal fluid (CSF). Besides, she had positive anti-COVID-19IgG. Therefore, the diagnosis of COVID-19-induced autoimmune encephalitis was specific. The patient received anti-epileptic, anti-viral drugs, IVIG, and rituximab and was discharged with remission. The case diagnosis was made by anti-NMDAR antibodies, which highlights the importance of this diagnostic tool. Similar cases have been reported earlier, but the point of this case was her younger age compared to the previous cases and her developing neurological deficit before COVID-19 presentations.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 2","pages":"135-142"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/83/bf/ijcn-17-135.PMC10114274.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9563383","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":"Evaluating Serum Proteome in Women with Obsessive-Compulsive Disorder/Bipolar Disorder Compared to Pure Obsessive- Compulsive Disorder Subjects and Healthy Controls.","authors":"Noorollah Tahery,&nbsp;Mostafa Rezaei Tavirani,&nbsp;Mona Zamanian Azodi,&nbsp;Mostafa Hamdieh,&nbsp;Mohammad Rostami Nejad,&nbsp;Nahid Mahmoodi","doi":"10.22037/ijcn.v17i1.34795","DOIUrl":"10.22037/ijcn.v17i1.34795","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Materials & methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 3","pages":"133-142"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/db/a9/ijcn-17-133.PMC10448848.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10101288","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":"Theory of mind in adolescents with Attention-Deficit Hyperactivity Disorder: A cross-sectional study.","authors":"Katayoon Razjouan,&nbsp;Mariam Hosseinzadeh,&nbsp;Ghazal Zahed,&nbsp;Mojgan Khademi,&nbsp;Rozita Davari,&nbsp;Fariba Arabgol","doi":"10.22037/ijcn.v17i1.39094","DOIUrl":"https://doi.org/10.22037/ijcn.v17i1.39094","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Materials & methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>This study did not support the hypothesis that adolescents with ADHD perform worse on ToM tasks.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 1","pages":"81-90"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ff/93/ijcn-17-81.PMC9881835.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9229546","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":"Tumor Necrosis Factor Alpha (TNFα) Gene Promoter Polymorphisms and Haplotypes are Associated with the Febrile Seizure (FS) and TNFα Serum Levels.","authors":"Bahar Ghanbarzadeh, Elnaz Dadashzadeh, Mojtaba Zare Ebrahimabad Zare Ebrahimabad, Mina Rahmati, Nasser Behnampour, Parniansadat Hosseini, Saeed Mohammadi, Seyed Ahmad Hosseini","doi":"10.22037/ijcn.v18i1.36719","DOIUrl":"10.22037/ijcn.v18i1.36719","url":null,"abstract":"<p><strong>Objectives: </strong><i>Febrile seizure</i> (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 <i>TNFα</i> could be associated with its elevated cytokine expression and susceptibility to FS. The present study analyzed the association of specific <i>TNFα</i> variants, including <i>TNFα</i> -238 G/A (rs361525), <i>TNFα</i> -308 G/A (rs1800629), and <i>TNFα</i> -376 G/A (rs1800750) promoter polymorphisms, with FS susceptibility, and TNFα serum levels in an Iranian population.</p><p><strong>Materials & methods: </strong>Sixty-eight FS patients and 136 controls were enrolled. The SSP-PCR method was utilized to analyze <i>TNFα</i> promoter genotypes. This research also confirmed the genotyping results by sequencing samples of ten patients and normal controls.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 4","pages":"55-69"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10704284/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138796893","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":"Prevalence Study of Duchene Muscular Dystrophy and its Genetic Sequence in Southern India.","authors":"Nigama Chandra Sattenapalli,&nbsp;Anka Rao Areti,&nbsp;Siva Naga Koteswara Rao,&nbsp;Rajasekhar Reddy Alavala,&nbsp;Uma Sankar Kulandaivelu","doi":"10.22037/ijcn.v17i2.35071","DOIUrl":"https://doi.org/10.22037/ijcn.v17i2.35071","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Materials & materials: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"17 1","pages":"29-37"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4e/60/ijcn-17-29.PMC9881832.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9234542","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}