Brain & Development最新文献

{"title":"Variation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III","authors":"Aristides Hadjinicolaou ,&nbsp;Aisling Quinlan ,&nbsp;Shanshan Liu ,&nbsp;Bo Zhang ,&nbsp;Masanori Takeoka ,&nbsp;Mustafa Sahin ,&nbsp;Sanjay P Prabhu ,&nbsp;Anna Lecticia Pinto","doi":"10.1016/j.braindev.2024.05.001","DOIUrl":"10.1016/j.braindev.2024.05.001","url":null,"abstract":"<div><h3>Objectives</h3><p>Sturge Weber syndrome (SWS) is a neurovascular condition with an estimated incidence of 1 in 20,000 to 50,000 live births. SWS Types I and II involve cutaneous and ophthalmological findings, with neurological involvement in Type I. SWS Type III is exclusive to brain stigmata. Our study aims to describe the characteristics of brain MRI findings and report neuroradiological features with seizure and cognitive outcomes in patients with SWS Type III.</p></div><div><h3>Methods</h3><p>This is a retrospective case series examining the clinical, radiological, and cognitive characteristics of patients with SWS Type III referred to the SWS Clinic at Boston Children’s Hospital. We analyzed brain MRI findings based on vascular and parenchymal features. Clinical and cognitive outcomes were based on a validated assessment tool in this population (Neuroscore).</p></div><div><h3>Results</h3><p>This dedicated case series of patients with Type III SWS from a single center identified ten patients. All patients had classic stigmata indicative of SWS. Two distinct radiological phenotypes were found, one characterized by more pronounced deep venous enlargement, and the other, with more pronounced parenchymal abnormalities. There was heterogeneity in seizure presentation and outcome. Earlier age of onset and seizures predict more severe outcomes, as seen in classic SWS.</p></div><div><h3>Conclusion</h3><p>We could not find significant divergence in outcomes between patients with differing neuroimaging phenotypes. These results raise the question of whether the two distinct radiological phenotypes found in SWS Type III are reflective of different disease entities, with underlying genetic heterogeneity. These results suggest the need for larger, multi-center natural history studies.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 7","pages":"Pages 244-249"},"PeriodicalIF":1.7,"publicationDate":"2024-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917029","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":"Intrauterine twin environment and genetic factors subliminally affecting general movements in preterm infants","authors":"","doi":"10.1016/j.braindev.2024.05.002","DOIUrl":"10.1016/j.braindev.2024.05.002","url":null,"abstract":"<div><h3>Background</h3><p>Understanding background factors is beneficial for interpreting general movements (GMs). This study examines the factors involved in preterm-writhing GMs by comparing twins and singletons.</p></div><div><h3>Method</h3><p>The subjects were 107 infants cared for at Oita University. The cohort consisted of very-low-birth-weight infants, including twins with a birth weight &lt; 2000 g. The median gestational age (GA) was 29 weeks 1 day. The subjects consisted of 75 singletons, 32 twins (16 pairs), 20 monochorionic twins (M−twins), and 12 dichorionic twins (D-twins). GMs were scored according to the GMs optimality score (GMOS) and integrated into 6 items: the quality, neck-trunk and space, amplitude-speed, rotation, onset-offset and cramped, and tremulous score at 32–34 weeks, 35–36 weeks, and 37–42 weeks’ GA. A hierarchical cluster analysis was performed using integrated GMOS, and the characteristics of clusters were examined according to clinical backgrounds.</p></div><div><h3>Results</h3><p>Three clusters were identified. Cluster 1 was characterized by good-quality GMs, cluster 2 by a poor repertoire but optimal space and rotatory components, and cluster 3 by overall poor-quality GMs, respectively. The mean GMOSs were 36.6, 31.8 and 24.3 in clusters 1, 2, and 3, respectively. There were no marked differences in proportions within clusters with respect to sex and twins. Small-for-gestational age (SGA) was significantly more frequent in cluster 3 at 32–34 weeks’ GA than in other clusters. Perinatal brain injury had a significantly lower proportion in cluster 1 and a higher proportion in cluster 3 at 35–36 weeks’ GA and 37–42 weeks’ GA. M−twin pairs tended to belong to the same clusters at 35–36 weeks’ GA.</p></div><div><h3>Conclusion</h3><p>Preterm writhing GMs are associated with SGA and perinatal brain injury. Cluster matching in M−twins suggests that certain genetic factors may substantially influence GMs.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 8","pages":"Pages 255-261"},"PeriodicalIF":1.4,"publicationDate":"2024-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S038776042400072X/pdfft?md5=49185dd664dcddddccdf034c21918521&pid=1-s2.0-S038776042400072X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140867377","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":"Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report","authors":"Sebastián Silva ,&nbsp;Mónica Rosas ,&nbsp;Benjamín Guerra ,&nbsp;Marión Muñoz ,&nbsp;Atsushi Fujita ,&nbsp;Masamune Sakamoto ,&nbsp;Naomichi Matsumoto","doi":"10.1016/j.braindev.2024.04.001","DOIUrl":"10.1016/j.braindev.2024.04.001","url":null,"abstract":"<div><h3>Introduction</h3><p><em>CAD</em> (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine biosynthesis pathway. Biallelic pathogenic variants in <em>CAD</em> cause the autosomal recessive developmental and epileptic encephalopathy 50 (MIM #616457) or CAD deficiency presenting with epilepsy, status epilepticus (SE), neurological deterioration and anemia with anisopoikilocytosis. Mortality is around 9% of patients, mainly related to the no use of its specific treatment with uridine. Majority of reported cases have an early onset during infancy, with some few starting later in childhood.</p></div><div><h3>Case report</h3><p>Here we report a deceased female patient with CAD deficiency whose epilepsy started at 14 years. She showed a rapid neurologic deterioration including cognitive decline, electroencephalographic background slowing which later evolved to a fatal refractory SE and supra and infratentorial atrophy on neuroimaging. Anemia developed after SE onset.</p></div><div><h3>Methods and results</h3><p>her <em>post-mortem</em> whole exome sequencing identified biallelic missense variants in CAD (NM_004341.5): c.[2944G &gt; A];[5366G &gt; A] p.[(Asp982Asn)];[(Arg1789Gln)]. Our review of twenty-eight reported cases (2015–2023) revealed an epilepsy age onset from neonatal period to 7 years and the SE prevalence of 46 %.</p></div><div><h3>Discussion</h3><p>With our case, we highlight the relevance of suspecting this treatable condition in older patients and in SE with no evident etiology.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 7","pages":"Pages 250-253"},"PeriodicalIF":1.7,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140757591","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":"Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy","authors":"Taemi Niimi ,&nbsp;Yuji Inaba ,&nbsp;Hideo Honda","doi":"10.1016/j.braindev.2024.03.006","DOIUrl":"10.1016/j.braindev.2024.03.006","url":null,"abstract":"<div><h3>Background</h3><p>Autism spectrum disorder (ASD) ranges from mild to severe symptoms, with autistic traits possibly distributed throughout the population. However, the precise neurodevelopmental differences in children with autistic traits remain unknown.</p></div><div><h3>Subjects and methods</h3><p>Fifty-three healthy volunteers (32 male and 21 female, mean [standard deviation] age: 12.9 [2.5] years) having a normal intelligence quotient and without social impairment were divided into two groups according to scores of the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS). Subjects with or without autistic traits were placed into the high-PARS (n = 14) or low-PARS (n = 39) group, respectively. Activation of the prefrontal cortex was estimated using change in hemoglobin oxygenation concentration (Δ[oxy-Hb]) on near-infrared spectroscopy (NIRS) during a verbal fluency test. Age-related changes in prefrontal cortex activation were first assessed for each group. Then, the effects of age (elementary school age or junior/senior high school age) and PARS score on Δ[oxy-Hb] in the task were analyzed by two-way analysis of variance.</p></div><div><h3>Results</h3><p>We observed significant positive correlations between mean Δ[oxy-Hb] and age in the prefrontal cortex region in the low-PARS group. Mean Δ[oxy-Hb] in the low-PARS group was significantly higher than in the high-PARS group. Task performance results were comparable between the groups.</p></div><div><h3>Conclusion</h3><p>In PARS-determined typically developed children, prefrontal cortex activation on NIRS correlated positively with age. In healthy volunteers without ASD but harboring autistic traits, prefrontal cortex activation was markedly lower than in normal counterparts. Our results provide biological evidence that ASD may be a pervasively distributed disorder.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 7","pages":"Pages 235-243"},"PeriodicalIF":1.7,"publicationDate":"2024-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140332352","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":"Effects of increased physical therapy staffing in the neonatal intensive care unit on oral feeding maturation and neurodevelopment of extremely low birth weight infants","authors":"Yoshinori Morioka ,&nbsp;Masayuki Nonogaki ,&nbsp;Daiyu Kobayashi ,&nbsp;Junji Nishimoto ,&nbsp;Shigeru Obayashi","doi":"10.1016/j.braindev.2024.03.005","DOIUrl":"10.1016/j.braindev.2024.03.005","url":null,"abstract":"<div><h3>Background</h3><p>It remains a matter of debate as to what extent early intervention may facilitate long-term functional outcomes of preterm infants in the neonatal intensive care unit (NICU). We aimed to examine the effect of increasing physical therapy (PT) staff dedicated to the NICU on temporal changes (initiation, duration) of PT interventions and functional outcomes (acquisition of full oral feeding and Hammersmith Neonatal Neurological Examination).</p></div><div><h3>Methods</h3><p>Extremely low birth weight infants, retrospectively collected from an academic medical center, were allocated to two subgroups, either a baseline period (N = 48) without NICU-dedicated PT staff (non-dedicated group) or a quality improvement period (N = 42) with additional dedicated staff (dedicated group).</p></div><div><h3>Results</h3><p>Compared to those in the non-dedicated group, NICU infants in the dedicated group started PT earlier and had increased PT treatment for additional 14 min per day when achieving full oral feeding. The infants in the dedicated group significantly achieved full oral feeding earlier than the non-dedicated group. As for Hammersmith Neonatal Neurological Examination, there were significant differences in two items (total and tone) between the groups.</p></div><div><h3>Conclusions</h3><p>Additional NICU-dedicated PT staff facilitated earlier intervention and increased PT treatment in terms of daily duration. Moreover, the dedication shortened the completion of full oral feeding and improved neurological development, presumably resulting in better developmental outcome.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 6","pages":"Pages 224-229"},"PeriodicalIF":1.7,"publicationDate":"2024-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140332353","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":"Cover","authors":"","doi":"10.1016/S0387-7604(24)00051-2","DOIUrl":"https://doi.org/10.1016/S0387-7604(24)00051-2","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 5","pages":"Page IBC"},"PeriodicalIF":1.7,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000512/pdfft?md5=e9ce175c74be60378a337af2ef4b0210&pid=1-s2.0-S0387760424000512-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140191530","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":"Prophylactic antiseizure medications for recurrent status epilepticus in nonsyndromic childhood epilepsy","authors":"Hirokazu Takeuchi ,&nbsp;Norimichi Higurashi ,&nbsp;Yurika Toga","doi":"10.1016/j.braindev.2024.03.004","DOIUrl":"10.1016/j.braindev.2024.03.004","url":null,"abstract":"<div><h3>Purpose</h3><p>The management of status epilepticus (SE) has mainly focused on the termination of ongoing SE episodes. However, long-term therapeutic strategies for the prevention of SE are lacking. This study aimed to investigate the effectiveness of prophylactic antiseizure medications (ASMs) for SEs in nonsyndromic childhood epilepsy.</p></div><div><h3>Methods</h3><p>This retrospective study was conducted at Jikei University Hospital. Patients &lt;18 years of age, diagnosed with epilepsy, and experiencing three or more SE episodes within 1 year between April 1, 2017, and October 1, 2021, were included. ASMs introduced for seizure types that developed into SE were evaluated. The effectiveness of ASMs was determined by using the “Rule of Three”: An ASM was determined effective if patients were free of SE for a duration at least three times that of their longest SE interval in 12 months prior to intervention.</p></div><div><h3>Results</h3><p>The investigation included a total of 32 ASMs administered to 13 patients. The longest interval between SE episodes before ASM administration was 28–257 d. The first SE interval after ASM administration was 12–797 d. Levetiracetam (LEV) and clobazam (CLB) showed effectiveness in 2/10 and 5/6 patients, respectively. Other ASMs were ineffective. The leading etiology of epilepsy was perinatal brain injury, identified in four patients, and CLB was effective in all of them.</p></div><div><h3>Conclusions</h3><p>The present study suggests that CLB and LEV may prolong the SE interval in some cases of nonsyndromic childhood epilepsy. CLB may be beneficial, particularly in patients with perinatal brain injury.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 6","pages":"Pages 219-223"},"PeriodicalIF":1.7,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190464","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":"Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center","authors":"Merve Feyza Yüksel ,&nbsp;Neslihan Doğulu ,&nbsp;Miraç Yıldırım ,&nbsp;Engin Köse ,&nbsp;Ömer Bektaş ,&nbsp;Fatma Tuba Eminoğlu ,&nbsp;Serap Teber","doi":"10.1016/j.braindev.2024.03.003","DOIUrl":"10.1016/j.braindev.2024.03.003","url":null,"abstract":"<div><h3>Objective</h3><p>Infantile epileptic spasm syndrome (IESS), including West syndrome (WS) and infantile spasm (IS), causes a challenging prognosis, particularly when associated with metabolic etiologies.</p></div><div><h3>Methods</h3><p>This study, conducted at a tertiary pediatric neurology center, explored the prevalence and clinical features of inborn errors of metabolism in 112 children with IESS over 10 years.</p></div><div><h3>Results</h3><p>Most patients presented with seizures, primarily flexor spasms, and the median age at onset was 5 months. Comprehensive clinical evaluation and neuroimaging revealed structural-acquired causes as the most common etiology. Notably, inborn errors of metabolism were identified in 5.4 % of cases, with six distinct diagnoses including nonketotic hyperglycinemia, pyridoxine-dependent epilepsy, primary coenzyme Q10 deficiency 7, congenital disorder of glycosylation type IIM, 6-pyruvoyl tetrahydrobiopterin synthase deficiency, and argininosuccinate lyase deficiency. The prevalence of inborn errors of metabolism in this cohort was consistent with global variations reported in the literature. Genetic testing, including karyotype analysis and whole exome sequencing, was performed in a subset of cases with no clear diagnosis, revealing abnormalities in approximately 50 % of cases. Adrenocorticotropic hormone emerged as the most frequently prescribed antiseizure medication.</p></div><div><h3>Conclusion</h3><p>This study provides insight into the diagnostic challenges associated with IESS and highlights the importance of metabolic investigations, especially in cases without a clear etiology. The findings emphasize the need for further genetic and metabolic studies to enhance prognostic accuracy and guide potential treatment options for children with IESS, particularly in populations with high rates of consanguinity.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 6","pages":"Pages 213-218"},"PeriodicalIF":1.7,"publicationDate":"2024-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140141180","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 female case of L1 syndrome that may have developed due to skewed X inactivation","authors":"Tatsuo Mori ,&nbsp;Mutsuki Nakano ,&nbsp;Takahiro Tayama ,&nbsp;Aya Goji ,&nbsp;Yoshihiro Toda ,&nbsp;Shinichi Kameyama ,&nbsp;Takeshi Mizuguchi ,&nbsp;Maki Urushihara ,&nbsp;Naomichi Matsumoto","doi":"10.1016/j.braindev.2024.03.001","DOIUrl":"10.1016/j.braindev.2024.03.001","url":null,"abstract":"<div><h3>Background</h3><p>Heterozygous <em>L1CAM</em> variants cause L1 syndrome with hydrocephalus and aplasia/hypoplasia of the corpus callosum. L1 syndrome usually has an X-linked recessive inheritance pattern; however, we report a rare case occurring in a female child.</p></div><div><h3>Case presentation</h3><p>The patient’s family history was unremarkable. Fetal ultrasonography revealed enlarged bilateral ventricles of the brain and hypoplasia of the corpus callosum. The patient was born at 38 weeks and 4 days of gestation. Brain MRI performed on the 8th day of life revealed enlargement of the brain ventricles, marked in the lateral and third ventricles with irregular margins, and hypoplasia of the corpus callosum. Exome sequencing at the age of 2 years and 3 months revealed a de novo heterozygous <em>L1CAM</em> variant (NM_000425.5: c.2934_2935delp. (His978Glnfs * 25). X-chromosome inactivation using the human androgen receptor assay revealed that the pattern of X-chromosome inactivation in the patients was highly skewed (96.6 %). The patient is now 4 years and 11 months old and has a mild developmental delay (developmental quotient, 56) without significant progression of hydrocephalus.</p></div><div><h3>Conclusion</h3><p>In this case, we hypothesized that the dominant expression of the variant allele arising from skewed X inactivation likely caused L1 syndrome. Symptomatic female carriers may challenge the current policies of prenatal and preimplantation diagnoses.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 6","pages":"Pages 230-233"},"PeriodicalIF":1.7,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121454","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":"Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C","authors":"Muneaki Matsuo ,&nbsp;Takafumi Sakakibara ,&nbsp;Yoshio Sakiyama ,&nbsp;Tetsumin So ,&nbsp;Motomichi Kosuga ,&nbsp;Toshihiko Kakiuchi ,&nbsp;Fumio Ichinose ,&nbsp;Takuji Nakamura ,&nbsp;Yoichi Ishitsuka ,&nbsp;Tetsumi Irie","doi":"10.1016/j.braindev.2024.03.002","DOIUrl":"10.1016/j.braindev.2024.03.002","url":null,"abstract":"<div><h3>Background and objectives</h3><p>Niemann–Pick type C (NPC) is a rare lysosomal storage disease characterized by hepatosplenomegaly and progressive neurological deterioration due to abnormal intracellular cholesterol transport. Cyclic oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HPBCD) is an effective treatment for NPC; however, few reports have shown its long-term efficacy and safety. To demonstrate long-term efficacy and safety of intrathecal HPBCD (IT-HPBCD) treatment for NPC, we herein reports five patients with NPC treated using IT-HPBCD for 4–11 years.</p></div><div><h3>Cases and results</h3><p>Patients’ ages at the onset ranged from 1.5 to 20 years. Notably, all patients showed rapid disease progression despite treatment with miglustat before IT-HPBCD treatment. Similarly, some patients showed transient improvement; however, all patients’ conditions stabilized after long-term IT-HPBCD therapy. Mild-to-moderate hearing loss was observed in three patients. Furthermore, long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, patients still experience some disease progression.</p></div><div><h3>Conclusions</h3><p>Long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, the treatment outcome is dependent on the neurological status at the time of diagnosis, and disease progression is not completely inhibited. Awareness of the disease and newborn screening is needed for earlier disease detection. In addition, further optimization of the treatment protocol and additional treatments are needed to improve patient outcomes.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 5","pages":"Pages 207-212"},"PeriodicalIF":1.7,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S038776042400041X/pdfft?md5=8e5bad62db3da27a2ad5f8a9e372a2f5&pid=1-s2.0-S038776042400041X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051146","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}