Brain & Development最新文献

{"title":"Brain dysfunction underlying visual snow syndrome: Insights into therapeutic implications","authors":"Mamoru Shibata","doi":"10.1016/j.braindev.2025.104362","DOIUrl":"10.1016/j.braindev.2025.104362","url":null,"abstract":"<div><div>Visual snow (VS) is defined as dynamic, continuous tiny dots across the entire visual field persisting for more than three months. VS is frequently associated with enhanced entoptic phenomenon, palinopsia, photophobia and night blindness. This constellation of symptoms is now referred to as visual snow syndrome (VSS). VSS is reported to affect approximately 2 % of the UK population. Neuroimaging has contributed to a better understanding of VSS disease mechanism. While the dysfunction of visual association area is likely to play a pivotal role in its pathophysiology, functional and microstructural abnormalities extend beyond the visual system. Nevertheless, no specific marker for VSS has been identified, which makes the diagnosis of VSS challenging. The treatment of VSS remains to be established. There has been only sporadic therapeutic success with lamotrigine and cognitive behavioral therapy. Given the complexity of its disease state, multidisciplinary therapeutic approaches appear to be required for more effective symptom management.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104362"},"PeriodicalIF":1.4,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143886607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Japanese pediatric neurologist's decision regarding genetic testing for patients with developmental delay/intellectual disability: A nationwide survey","authors":"Tetsuya Okazaki ,&nbsp;Chisako Aoki ,&nbsp;Kaori Adachi ,&nbsp;Takashi Yorifuji ,&nbsp;Akira Hirasawa ,&nbsp;Eiji Nanba","doi":"10.1016/j.braindev.2025.104361","DOIUrl":"10.1016/j.braindev.2025.104361","url":null,"abstract":"<div><h3>Background</h3><div>Advances in genetic analysis technology are increasing the opportunities for developmental delay/intellectual disability (DD/ID) cases to reach genetic diagnosis. However, the decision to perform genetic testing depends on the physician's decision; furthermore, the accessibility of genetic testing varies by country or region.</div></div><div><h3>Methods</h3><div>Japanese certified pediatric neurologists participated in an online survey from February to March 2023 to assess their attitudes toward genetic testing for DD/ID.</div></div><div><h3>Results</h3><div>The study enrolled 266 pediatric neurologists, including 41 certified clinical geneticists. In Japan, G-banding emerged as the most common first-line genetic testing for DD/ID. For DD/ID without physical and behavioral abnormalities, 30 % of pediatric neurologists indicated that they would not perform genetic testing compared with 15 % of clinical geneticists. 75.6 % of certified clinical geneticists reported experience submitting chromosomal microarray analysis (CMA), while only 39.2 % of pediatric neurologists had experience submitting CMA.</div></div><div><h3>Conclusion</h3><div>Differences in the decision of indication for genetic testing for DD/ID cases were shown to be influenced by specialized genetic training. Improved education and access to genetic specialists may help standardize genetic diagnosis in Japan. On the other hand, a standardized testing policy, especially for non-genetic specialists, is needed to make genetic testing for DD/ID more widely available.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104361"},"PeriodicalIF":1.4,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143869238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tryptophan metabolism in children with migraine: The role of kynurenine pathway","authors":"Şeyma Sönmez Şahin ,&nbsp;Esra Paydaş Hataysal ,&nbsp;Elif Yüksel Karatoprak ,&nbsp;Fadime Ovalı ,&nbsp;Ayşegül Özel ,&nbsp;Ferit Durankuş ,&nbsp;Hüsamettin Vatansev","doi":"10.1016/j.braindev.2025.104359","DOIUrl":"10.1016/j.braindev.2025.104359","url":null,"abstract":"<div><h3>Background</h3><div>Migraine is a common neurological disorder in children, significantly impacting quality of life and academic performance. The kynurenine pathway, a major metabolic route of tryptophan, plays a critical role in neuroinflammation and neurotransmission, yet its involvement in pediatric migraine remains unexplored. This study aims to investigate alterations in kynurenine pathway metabolites in children with migraine and assess their correlation with headache frequency and severity.</div></div><div><h3>Methods</h3><div>A case-control study was conducted including pediatric patients diagnosed with migraine (<em>n</em> = 45) and healthy controls (<em>n</em> = 48). Serum levels of tryptophan (TRP) and its kynurenine pathway metabolites—including kynurenine (KYN), kynurenic acid (KYNA), 3-hydroxykynurenine (3−HK), and 3-hydroxyanthranilic acid (3-HANA)—were quantified using liquid chromatography-tandem mass spectrometry (LC-MS/MS). The Pediatric Migraine Disability Assessment (PedMIDAS) scores were used to evaluate the functional impact of migraine. Statistical analyses included comparisons between groups and correlation assessments between metabolite levels and clinical parameters.</div></div><div><h3>Results</h3><div>KYN, KYNA, and the KYN/TRP ratio were significantly higher in the migraine group compared to controls (<em>p</em> &lt; 0.05). KYNA/3-HK ratios showed a negative correlation with headache frequency and PedMIDAS scores, whereas 3-HK levels were positively correlated with PedMIDAS scores. Receiver operating characteristic curve analysis identified KYN as a potential biomarker for distinguishing migraine patients from controls, with a sensitivity of 86.7 % and specificity of 45.8 % at a cutoff value of 1415.</div></div><div><h3>Conclusion</h3><div>This study is the first to evaluate kynurenine pathway metabolites in pediatric migraine. The findings suggest that alterations in the tryptophan-kynurenine pathway, particularly increased KYN and KYNA levels, may serve as compensatory mechanisms in migraine pathophysiology. Future studies should explore the therapeutic implications of targeting the kynurenine pathway in pediatric migraine treatment.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104359"},"PeriodicalIF":1.4,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143845028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Synaptic disturbance in neurodevelopmental disorders: Perspectives from fragile X and Rett syndromes","authors":"Ruixiang Li ,&nbsp;Mai Anzai ,&nbsp;Akiko Shibata ,&nbsp;Aya Ito-Ishida","doi":"10.1016/j.braindev.2025.104358","DOIUrl":"10.1016/j.braindev.2025.104358","url":null,"abstract":"<div><div>Neurodevelopmental disorders (NDDs) are often referred to as “synaptopathies” because many of their behavioral symptoms arise from impaired synaptic development and function. However, the mechanisms that connect synaptic dysfunction to neurological symptoms remain unclear, mainly due to the wide variety of genetic and environmental factors involved in these disorders. Fragile X syndrome and Rett syndrome, two extensively studied monogenic NDDs, provide a unique opportunity to explore these mechanisms at molecular, cellular, and synaptic levels. This review summarizes the current understanding of how synaptic alterations contribute to the neurological symptoms observed in fragile X and Rett syndromes. A comparison of findings from mouse models indicates that an imbalance in local and distal connectivity may serve as a common feature of both disorders.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104358"},"PeriodicalIF":1.4,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143824002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can a familial history of migraine and motion sickness be used in the diagnosis of childhood migraine?","authors":"Turgay Cokyaman ,&nbsp;Ulgen Ozcan Erdem","doi":"10.1016/j.braindev.2025.104360","DOIUrl":"10.1016/j.braindev.2025.104360","url":null,"abstract":"<div><h3>Objective</h3><div>Childhood migraine is a recurrent neurobiological complex disease and caused by multiple genetic and environmental factors. In this study, the clinical relevance of ICHD-3 diagnostic criteria, familial history of migraine and motion sickness was investigated.</div></div><div><h3>Methods</h3><div>This study was conducted on children aged 10–18 years, who were randomly selected from 22 middle and 26 high schools. The survey, prepared in Turkish, asked about headache characteristics (ICHD-3 diagnostic criteria: 7 items), familial history of migraine, and presence of motion sickness (2 items).</div></div><div><h3>Results</h3><div>According to data from the survey, 4 main factors emerged in the exploratory factor analysis. Photophobia, pain attack duration ≥1 h, headache attacks more than 4 times, familial history of migraine in factor-1, vomiting and nausea in factor-2, pulsatile pain and forehead and bitemporal localization in factor-3, avoidance routine physical activities and motion sickness in factor-4 are collected.</div></div><div><h3>Conclusion</h3><div>Migraine, in which strong genetic pieces of evidence have been uncovered is a multifactorial brain disease. Moreover, the intense connections between the trigeminal system and vestibular nuclei demonstrated in the current literature reveal that the relationship between motion sickness and migraine cannot be ignored. Therefore, a positive familial history and motion sickness in childhood migraine are important additional diagnostic clues in addition to ICHD-3.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104360"},"PeriodicalIF":1.4,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143807008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic value of serum miRNA-134-3p and miRNA-155-5p for monitoring seizure control in pediatric epilepsy","authors":"Yating Yang ,&nbsp;Jing Kang ,&nbsp;Yiyan Zhang ,&nbsp;Yuehao Cai ,&nbsp;Qiong Fang ,&nbsp;Yukun Huang ,&nbsp;Chengyong Huang ,&nbsp;Qiaobin Chen ,&nbsp;Ying He ,&nbsp;Fan Lin","doi":"10.1016/j.braindev.2025.104357","DOIUrl":"10.1016/j.braindev.2025.104357","url":null,"abstract":"<div><h3>Objective</h3><div>This study explored the potential of miRNA-134-3p and miRNA-155-5p as biomarkers for assessing seizure severity in children.</div></div><div><h3>Methods</h3><div>Healthy children and children with epilepsy from Fujian Provincial Hospital (Sept 2022 to July 2023) were grouped into the control group (<em>n</em> = 20), the well-controlled group (<em>n</em> = 22), and the poorly-controlled group (<em>n</em> = 18). Clinical data and serum samples were analyzed using quantitative real-time polymerase chain reaction to detect miRNA levels. Receiver operating characteristic curve analysis evaluated diagnostic potential.</div></div><div><h3>Results</h3><div>The poorly-controlled group showed increased seizure frequency (<em>P</em> &lt; 0.001), medication dosage (<em>P</em> &lt; 0.001), and intellectual disabilities (<em>P</em> = 0.041). MiRNA-134-3p and miRNA-155-5p levels were higher in epilepsy patients, especially in the poorly-controlled group (P &lt; 0.001). When the critical value of miRNA-134-3p for diagnosing seizure control was 4.336, the specificity was 90.9 % and the sensitivity was 88.9 %. When the diagnostic threshold of miRNA-155-5p was 2.870, the specificity was 63.6 % and the sensitivity was 100 %. The sensitivity, specificity, and accuracy of the combined diagnosis of serum miRNA-134-3p and miRNA-155-5p for seizure control were 88.9 %, 100 %, and 94.45 %, respectively.</div></div><div><h3>Conclusion</h3><div>The expressions of miRNA-134-3p and miRNA-155-5p were elevated in the serum of children with epilepsy, and were positively correlated with the severity of seizures. The serum miRNA-134-3p has high specificity in diagnosing the degree of seizure control in children, while miRNA-155-5p has high sensitivity. Their combination of the two can improve the specificity of predicting the degree of seizure control in children.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104357"},"PeriodicalIF":1.4,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan","authors":"Tamaki Ikegawa ,&nbsp;Kana Osada ,&nbsp;Azusa Ikeda ,&nbsp;Yu Tsuyusaki ,&nbsp;Megumi Tsuji ,&nbsp;Mizue Iai ,&nbsp;Noriko Aida ,&nbsp;Kenji Kurosawa ,&nbsp;Naomichi Matsumoto ,&nbsp;Tomohide Goto","doi":"10.1016/j.braindev.2025.104356","DOIUrl":"10.1016/j.braindev.2025.104356","url":null,"abstract":"<div><h3>Background</h3><div>Tubulin plays an important role in cell morphogenesis and chromosomal segregation. Tubulinopathies are caused by pathogenic <em>TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB,</em> and <em>TUBG1</em> variants. Although radiological features and genotype–phenotype correlations of tubulinopathy have been described, clinical severity by genotype has not been described in detail. Herein, we discuss the correlations between the clinical and radiological features of head MRI of patients with tubulinopathy and its clinical severity by genotype.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed medical records of patients diagnosed as having tubulinopathy at our hospital between January 2000 and May 2022.</div></div><div><h3>Results</h3><div>Twelve (5 male, 7 female) patients were diagnosed with tubulinopathy: four with the <em>TUBA1A</em> variant<em>,</em> one with the <em>TUBB2B</em> variant<em>,</em> three with the <em>TUBB3</em> variant, one with the <em>TUBB</em> variant, and three with the <em>TUBB4A</em> variant. All patients exhibited psychomotor delay; patients with perisylvian polymicrogyria-like cortical dysplasia had milder symptoms than those with generalized cortical dysplasia. Eight patients with epilepsy had good response to anti-seizure medications. Head MRI of all patients with <em>TUBA1A</em>, <em>TUBB2B</em>, <em>TUBB3,</em> and <em>TUBB</em> variants revealed basal ganglia dysplasia. All patients with the <em>TUBB4A</em> variant had cerebral white matter atrophy and delayed myelination, which were not found in patients with other variants.</div></div><div><h3>Conclusions</h3><div>The severity of psychomotor delay in patients with tubulinopathy may be related to the degree and extent of cortical dysplasia. Asymmetric basal ganglia dysplasia is a specific MRI finding of tubulinopathy. The clinical features and MRI findings associated with the <em>TUBB4A</em> variant differ from those of other tubulinopathies.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104356"},"PeriodicalIF":1.4,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy","authors":"Jun-ichi Takanashi","doi":"10.1016/j.braindev.2025.104345","DOIUrl":"10.1016/j.braindev.2025.104345","url":null,"abstract":"<div><div>Recent advancements in molecular biology and radiology have led to the identification of several new leukodystrophies. A key diagnostic feature of leukodystrophies is the increased white matter signal intensity observed on T2-weighted magnetic resonance (MR) images. Leukodystrophies are typically classified into two main categories: hypomyelinating leukodystrophies (HLD) and other forms, including demyelinating leukodystrophies. HLD is characterized by a primary defect in myelin due to genetic variants that affect structural myelin proteins, oligodendrocyte transcription factors, RNA translation, and lysosomal proteins. Radiologically, HLD tends to show less pronounced white matter hyperintensity on T2-weighted images than demyelinating leukodystrophies. A definitive diagnosis can often be made by identifying abnormalities in regions beyond the white matter, such as the basal ganglia or cerebellum, or through the presence of characteristic clinical symptoms. <em>N</em>-acetylaspartate, a neuroaxonal marker observed on MR spectroscopy, is typically reduced in many neurological conditions, but <em>N</em>-acetylaspartate levels often remain normal in HLD, which is considered a distinctive feature of this disorder. This article provides an overview of the latest imaging findings and clinical features associated with HLD.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104345"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes","authors":"Santhalingam Gayathri ,&nbsp;Manikka Kubendran Aravind ,&nbsp;Vykuntaraju K. Gowda ,&nbsp;Perumal Varalakshmi ,&nbsp;Chitral Chatterjee ,&nbsp;Saravanan Matheshwaran ,&nbsp;Stephanie Efthymiou ,&nbsp;Henry Houlden ,&nbsp;Balasubramaniem Ashokkumar","doi":"10.1016/j.braindev.2025.104355","DOIUrl":"10.1016/j.braindev.2025.104355","url":null,"abstract":"<div><h3>Background</h3><div>BVVLS (Brown-Vialetto-Van Laere syndrome), a rare genetic condition characterized by progressive neuropathy, is caused by defects in <em>SLC52A2</em> and <em>SLC52A3</em> genes coding for hRFVT-2 and hRFVT-3.</div></div><div><h3>Methods</h3><div>Five BVVLS cases were screened for disease-causing variants using exome sequencing and their functional contributions were evaluated by <em>in silico</em> analysis, riboflavin transport assay and confocal imaging.</div></div><div><h3>Results</h3><div>Probands enrolled in this study were presented with unusual phenotypes like syndactyly, polydactyly, pedal edema and chronic osteomyelitis. Genetic testing disclosed heterozygous variants in all five cases including c.229G&gt;A p.E77K, c.384G&gt;A p.S128S, c.1245C&gt;T p.G415G and c.843del p.L282Cfs*8 in <em>SLC52A2</em> gene and c.833C&gt;T p.T278M, c.907A&gt;G p.I303V and c.62A&gt;G p.N21S in <em>SLC52A3</em> gene. Among them, p.L282Cfs*8 was diagnosed here for first-time, whereas p.E77K and p.S128S were reported previously with a variation at nucleotide position. Functional analysis of the variant p.E77K, p.S128S, p.T278M and p.I303V evidenced impairment in riboflavin transport, whereas p.G415G and p.L282Cfs*8 showed no significant changes. Despite of having reduction in riboflavin uptake, the presence of same polymorphic variant (p.T278M and p.I303V) in asymptomatic father suggests it as not likely associated with disease phenotypes. Meantime, membranous expression of hRFVT-2 variants p.S128S and p.E77K were abrogated and mostly internalized in cytoplasmic regions of transfected cells, whereas no change was observed with other variants than wild-type.</div></div><div><h3>Conclusion</h3><div>These results show for the first-time that BVVLS associated hRFVT-2 variants p.S128S and p.E77K affected riboflavin transport function due to abrogation in membranous localization and/or activity of the transporter. The polymorphic variants p.T278M and p.I303V of hRFVT-3 are unlikely to be implicated functionally in the pathogenesis of the disease.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104355"},"PeriodicalIF":1.4,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis – possibility of preventing scoliosis with a rehabilitation program focusing on postural management","authors":"Tomokazu Kimizu ,&nbsp;Saki Yokawa ,&nbsp;Takuya Horibe ,&nbsp;Keisuke Oki ,&nbsp;Ken Nakajima ,&nbsp;Koji Tominaga ,&nbsp;Yukiko Mogami ,&nbsp;Daisuke Tamura ,&nbsp;Keiko Yanagihara","doi":"10.1016/j.braindev.2025.104354","DOIUrl":"10.1016/j.braindev.2025.104354","url":null,"abstract":"<div><h3>Background</h3><div>Early-onset scoliosis, which develops before 2 years of age and progresses rapidly, has been reported as an inevitable complication in spinal muscular atrophy (SMA) patients with 2 copies of the survival motor neuron 2 (<em>SMN2</em>) gene that receive post-onset disease-modifying therapy (DMT) within 6 months after birth. We describe a case of SMA type 0 in a patient with 2 copies of <em>SMN2</em> that was treated with nusinersen, in which the patient's motor function improved and no progression of spinal deformity was observed.</div></div><div><h3>Case presentation</h3><div>The patient was born after an unremarkable gestation, but presented with severe muscle weakness immediately after birth. A genetic analysis conducted at 9 weeks of age revealed homozygous deletion of <em>SMN1</em> and 2 copies of <em>SMN2</em>. He was diagnosed with SMA type 0 and treated with nusinersen from the age of 10 weeks. However, he required a tracheostomy and ventilatory management due to pharyngomalacia at 4 months. Slight spinal deformity was observed after sitting training was initiated at 1 year and 3 months. Physical therapy with careful postural management using a seating system and a supine stander was conducted twice a week to promote motor development. He was restricted to sitting without support for 30 min a day. At age 6, he can stand with support for several minutes, and scoliosis has been prevented.</div></div><div><h3>Conclusion</h3><div>Our case suggests that early proactive, non-surgical management with targeted rehabilitation can prevent scoliosis progression in SMA patients with 2 copies of <em>SMN2</em> that receive post-onset DMT within 6 months of birth.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104354"},"PeriodicalIF":1.4,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}