Jornal de pediatria最新文献

{"title":"Social vulnerability among Brazilian children in early childhood: a scoping review","authors":"Alcina M. Brito ,&nbsp;Deisiane O. Souto ,&nbsp;Luana C. Silva ,&nbsp;Hércules R. Leite ,&nbsp;Rosane L.S. Morais","doi":"10.1016/j.jped.2024.06.012","DOIUrl":"10.1016/j.jped.2024.06.012","url":null,"abstract":"<div><h3>Objective</h3><div>To identify, map, and describe studies involving Brazilian children in early childhood in situations of social vulnerability.</div></div><div><h3>Source of data</h3><div>A scoping review including full articles published in Portuguese and English up to March 2023, with no temporal restrictions. Searches were conducted in the MEDLINE/PubMed, Scielo, EMBASE, Cochrane, Scopus, CINAHL, Web of Science, PEDro, and LILACS databases. Journal metrics, sample characteristics, study area, characterization of the situation of social vulnerability, and study outcomes were extracted.</div></div><div><h3>Summary of the findings</h3><div>Seventy-six articles involving a total of 107.740 children in early childhood were included in this study. These studies presented relevant findings, including the temporal publication trend, the variability of social vulnerability indicators, the scarcity of intervention studies, and the fact that 100% of eligible studies were from the health area. Negative outcomes were associated with the condition of social vulnerability in almost the entire sample, reinforcing the need for government policies capable of protecting early childhood from the effects of social vulnerability.</div></div><div><h3>Conclusion</h3><div>This scoping review mapped important findings involving Brazilian children in social vulnerability. It also identified literature gaps such as the need for intervention and multisectoral studies among health, education, and social protection.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 7-20"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004285","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":"Analysis of agreement between specialists for the evaluation of radiological findings of necrotizing enterocolitis","authors":"Erica Cristina Scarpa ,&nbsp;João C. Lyra ,&nbsp;Pedro L.T. de A. Lourenção ,&nbsp;Andréa S. Hachem ,&nbsp;Geraldo H.S. da Silva ,&nbsp;Glauce R.F. Giacóia ,&nbsp;Erika V.P. Ortolan ,&nbsp;Camila de Paula Silva ,&nbsp;Guilherme L. da Silveira ,&nbsp;Maria R. Bentlin","doi":"10.1016/j.jped.2024.07.008","DOIUrl":"10.1016/j.jped.2024.07.008","url":null,"abstract":"<div><h3>Objective</h3><div>The analysis of abdominal radiography is essential for the diagnosis and management of necrotizing enterocolitis (NEC) in newborns (NB). Studies, however, show a lack of agreement among physicians in the interpretation of images. This study aims to evaluate the agreement in the radiological interpretation of the NEC between examiners from different specialties (interexaminer analysis) and between the same examiner at different times (intraexaminer analysis).</div></div><div><h3>Methods</h3><div>Cross-sectional study for concordance analysis using plain radiographs of the abdomen of NB with suspected or confirmed NEC. The study included two neonatologists (Neo), two surgeons (SU), and two radiologists (RD). The participants filled out a form with questions about the radiographic findings; regarding the presence of intestinal loop distension, the specialists answered subjectively (yes or no) and objectively (calculation of the ratio between loop diameter and lumbar vertebrae measurements). Kappa coefficients were calculated for agreement analysis.</div></div><div><h3>Results</h3><div>A total of 90 radiological images were analyzed. For the interexaminer evaluation, the agreement was low (kappa&lt;0.4) in 30 % of the answers (Neo versus SU), 38 % (Neo versus RD), and 46 % (SU versus RD). In the intraexaminer evaluation, the neonatologist and the surgeon presented substantial or almost perfect agreement in 92 % of the answers, and the radiologist in 77 %. In the evaluation of intestinal loop distention, the greatest agreement between the specialties occurred when done objectively.</div></div><div><h3>Conclusion</h3><div>The results confirmed the low intra- and interexaminer agreement in the radiological analysis of the NEC, reinforcing the importance of standardizing the methods of radiological interpretation of the disease.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 103-109"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142046700","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":"Cross-cultural adaptation and validation of the CFAbd-Score for gastrointestinal symptoms in patients with cystic fibrosis","authors":"Flávia N.S. Infante ,&nbsp;Elizete A. Lomazi ,&nbsp;Carlos Zagoya ,&nbsp;Franziska Duckstein ,&nbsp;Daniela O. Magro ,&nbsp;Fernando Pessotto ,&nbsp;Antônio F. Ribeiro ,&nbsp;José D. Ribeiro ,&nbsp;Jochen G. Mainz","doi":"10.1016/j.jped.2024.07.004","DOIUrl":"10.1016/j.jped.2024.07.004","url":null,"abstract":"<div><h3>Objective</h3><div>Translating and cross-culturally adapting the CFAbd-Score, Cystic Fibrosis (CF) Abdominal Score, to use in Brazilian spoken Portuguese. The CFAbd-Score is a questionnaire for assessing CF-related abdominal symptoms and their influence on the quality of life (QoL). It comprises 28 questions on five domains: abdominal pain, bowel movements, eating and appetite, gastroesophageal reflux symptoms, and the impact of gastrointestinal (GI) symptoms on QoL.</div></div><div><h3>Method</h3><div>Cross-cultural adaptation included assessment of conceptual and item equivalence, semantic, operational, and measurement equivalence. Content validity was assessed. The validation and psychometric analysis phase included 97 people with CF (pwCF), median age:14.58y (IQR 9/19), and 105 healthy individuals, 15.10y (IQR 9/20). Exploratory factor analysis (FA) identified retained factors. Internal consistency of the extracted domains was evaluated using Cronbach's α, and the Kaiser-Meyer-Olkin test (KMO) was used to check the sample adequacy. Bartlett's test tested the null hypothesis that the correlation matrix is an identity matrix.</div></div><div><h3>Results</h3><div>All items were considered relevant to the construct and good semantic equivalence of the version was recognized. FA showed the appropriate weight of all items and good internal consistency, with Cronbach's alpha 0.89. Bartlett's test significance level (p &lt; 0.001) and KMO coefficient of 0.72 indicated good adequacy for structure. Internal consistency coefficients (Cronbach's alpha) were good for abdominal pain: 0.84; abdominal bloating: 0.73; flatulence: 0.76; heartburn: 0.81, and low for reflux: 0.54.</div></div><div><h3>Conclusion</h3><div>The CFAbd-Score was adapted to the Brazilian spoken Portuguese and demonstrated content and semantic equivalence. The final version showed appropriate validity, and internal consistency, preserving the psychometric properties of the original version.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 82-88"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971176","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":"Association of BMI and WC for insulin resistance and type 2 diabetes among Brazilian adolescents","authors":"Cesar Pirajá Bandeira ,&nbsp;Beatriz D. Schaan ,&nbsp;Felipe Vogt Cureau","doi":"10.1016/j.jped.2024.07.007","DOIUrl":"10.1016/j.jped.2024.07.007","url":null,"abstract":"<div><h3>Objective</h3><div>To investigate how body mass index (BMI) and waist circumference (WC) may be associated with insulin resistance and type 2 diabetes (T2DM) in Brazilian adolescents.</div></div><div><h3>Methods</h3><div>Cross-sectional study using data from the Brazilian Study of Cardiovascular Risks in Adolescents (ERICA) including adolescents aged 12–17 years. The relationship between adiposity and T2DM was investigated using ordinal logistic regression models. To study the association between adiposity categories and the occurrence of insulin resistance, linear regression models were used.</div></div><div><h3>Results</h3><div>The prevalence of T2DM for the same BMI category did not increase with the presence of high WC. Regarding insulin resistance, for the same BMI categories, having a high WC resulted in a higher prevalence of insulin resistance (HOMA-IR). The only groups significantly associated with prediabetes and T2DM were those with obesity by BMI with elevated WC (POR 1.68, 95 % CI 1.45; 1.94) and obesity with normal WC (POR 1.58, 95 % CI 1.01; 2.46). Similar findings were observed concerning insulin resistance, where the increased WC had its greatest effect when associated with obesity by BMI (β Coefficient 2.20, 95 % CI 1.89; 2.50).</div></div><div><h3>Conclusion</h3><div>The combination of BMI and WC is better for assessing adolescents at risk of developing T2DM.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 30-37"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987918","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":"Central auditory system assessment in children and adolescents with cystic fibrosis: electrophysiology and central auditory processing","authors":"Paula Maria Martins-Duarte,&nbsp;Gabriel Hessel,&nbsp;Antônio Fernando Ribeiro,&nbsp;Fernando Augusto Lima Marson,&nbsp;Maria Francisca Colella-Santos","doi":"10.1016/j.jped.2024.06.013","DOIUrl":"10.1016/j.jped.2024.06.013","url":null,"abstract":"<div><h3>Objective</h3><div>This study aims to evaluate the central auditory system of children and adolescents with cystic fibrosis through behavioral assessment of central auditory processing and electrophysiological tests to investigate short and long-latency auditory potentials, comparing them with the results obtained in the control group.</div></div><div><h3>Methods</h3><div>117 from 7 to 21 years old patients were evaluated, 57 of them with cystic fibrosis and 60 of the control group, using behavioral evaluation of central auditory processing, auditory brainstem response and long latency auditory evoked potential. The comparison of the research groups was performed using ANOVA for Auditory Brain Response and P300 responses and Wilcoxon and Mann-Whitney tests for Central Auditory Processing responses.</div></div><div><h3>Results</h3><div>A statistically significant difference was found in the results of the GIN test between the groups and in the auditory brainstem response latency responses in waves I and V in the comparison between the groups with higher latencies in the study group. A difference was also found between latencies in the interpeak intervals I-III and III-V. The long latency auditory evoked potential analysis shows a statistically significant difference in the latency of the P300 potential, with higher latencies in the study group.</div></div><div><h3>Conclusion</h3><div>Cystic fibrosis participants presented worse performance in the gaps-in-noise test compared to the control group in the evaluation of central auditory processing, which indicates impairment of temporal resolution auditory ability. They also showed increased latency in I and V waves of auditory brainstem response, as well as an increase P300 latency in long latency auditory evoked potential.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 96-102"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154148","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":"Identifying adolescents with increased cardiometabolic risk—Simple, but challenging","authors":"Eero A. Haapala","doi":"10.1016/j.jped.2024.10.001","DOIUrl":"10.1016/j.jped.2024.10.001","url":null,"abstract":"","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 1-3"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763591/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500850","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":"WhatsApp and atopic dermatitis: a clinical trial","authors":"Thaís Braga Cerqueira ,&nbsp;Renata Robl Imoto ,&nbsp;Mariana Muzzolon ,&nbsp;Vânia Oliveira de Carvalho","doi":"10.1016/j.jped.2024.07.003","DOIUrl":"10.1016/j.jped.2024.07.003","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the effect of text messages with information about atopic dermatitis (AD) on the quality of life (QoL) of children and their caregivers and on the severity of the disease.</div></div><div><h3>Methods</h3><div>Researcher-blinded randomized controlled clinical trial. The experimental group (EG) received messages about AD and the control group (CG) about general health. A total of 56 children under 15 years of age and their caregivers, allocated to the CG and EG, were assessed on admission, after one month, and after four months. Improvement in QoL was measured by the Children's Dermatology Life Quality Index (CDLQI), the Infants’ Dermatitis Quality of Life Index (IDQOL), and the Dermatitis Family Impact Questionnaire (DFIQ), and improvement in the severity of AD by the Scoring of Atopic Dermatitis (SCORAD) and the Eczema Area and Severity Index (EASI).</div></div><div><h3>Results</h3><div>Median age was of nine years, 33 (58.9 %) were girls. The CG and EG had similar results, except for the higher frequency of mild AD in the CG and moderate/severe AD in the EG—these severity categories were kept grouped together. Regarding mild and moderate/severe AD in the EG, the SCORAD score decreased (<em>p</em> = 0.03 and <em>p</em> &lt; 0.001). The EASI in both groups showed a significant reduction (mild AD: CG: <em>p</em> = 0.01, EG: <em>p</em> = 0.04; moderate/severe AD: CG: <em>p</em> = 0.05, EG: <em>p</em> = 0.02). The QoL of children and caregivers improved only in the EG (<em>p</em> = 0.01). Intergroup analysis showed no differences.</div></div><div><h3>Conclusion</h3><div>The improvement in the severity of AD in both groups suggests the positive effects of educational interventions in general, not only those specific to the disease.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 67-73"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912781","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":"Effect of video-based interventions on emergence delirium in pediatric patients: a systematic review and meta-analysis of randomized controlled trials","authors":"Yue Wang,&nbsp;Lifang Wang,&nbsp;Nan Liang,&nbsp;Kan Wang","doi":"10.1016/j.jped.2024.06.016","DOIUrl":"10.1016/j.jped.2024.06.016","url":null,"abstract":"<div><h3>Objective</h3><div>Emergence delirium is frequently observed in pediatric patients. With advancements in video-based interventions, such as cartoons, video games, and virtual reality, these modalities may contribute to a reduced incidence of emergency delirium among children. However, robust evidence supporting their efficacy remains necessary.</div></div><div><h3>Methods</h3><div>The authors conducted a systematic search across multiple databases, including Embase, MEDLINE, and Cochrane Library, to identify all randomized controlled trials comparing video-based interventions with control treatments in pediatric emergence delirium. Data were aggregated and analyzed using Review Manager 5.4 to evaluate the effectiveness of video-based interventions.</div></div><div><h3>Results</h3><div>The analysis included eight randomized controlled trials comprising 872 children. The intervention group showed a trend toward lower Pediatric Anesthesia Emergence Delirium scores (<em>p</em> = 0.10) and fewer emergence delirium events (<em>p</em> = 0.52). Seven studies demonstrated that video-based interventions significantly reduced preoperative anxiety, as indicated by decreased scores on the modified Yale Pre-operative Anxiety Scale (<em>p</em> &lt; 0.00001). Anesthesia duration did not significantly differ between the intervention and control groups (<em>p</em> = 0.16). Notably, subgroup analyses revealed a significant reduction in Pediatric Anesthesia Emergence Delirium scores among children under seven years of age (<em>p</em> = 0.001).</div></div><div><h3>Conclusions</h3><div>Video-based interventions were linked to lower Pediatric Anesthesia Emergence Delirium scores and a decreased incidence of emergence delirium events. However, these results did not reach statistical significance across the broader sample. Notably, in children under seven, these interventions significantly reduced the scores.</div></div><div><h3>Level of evidence</h3><div>III</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 21-29"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154149","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":"Prenatal diagnosis of critical congenital heart disease associated with lower postpartum depressive symptoms: a case-control study","authors":"Daniela R. Vieira ,&nbsp;Patrícia P. Ruschel ,&nbsp;Márcia M. Schmidt ,&nbsp;Paulo Zielinsky","doi":"10.1016/j.jped.2024.06.011","DOIUrl":"10.1016/j.jped.2024.06.011","url":null,"abstract":"<div><h3>Objective</h3><div>When the expectant mother is faced with an unforeseen event during pregnancy, she may experience emotional fragility and depression. This study was carried out to test the association between the time of diagnosis of critical congenital heart disease (CCHD) and depressive symptoms in puerperal women.</div></div><div><h3>Method</h3><div>A case-control study. All mothers answered a semi-structured questionnaire and the Edinburgh Postnatal Depression Scale (EPDS). Pearson's correlation and multiple linear regression analysis were used to determine factors associated with depression.</div></div><div><h3>Results</h3><div>50 puerperal women, 23 cases and 27 controls. The proportion of puerperal depressive symptoms was 26.1 % among mothers of infants prenatally diagnosed with CCHD and 77.8 % among mothers of infants postnatally diagnosed (<em>p</em> = 0.001 [OR] 9.917; 95 % CI 2.703–36.379). Multiple linear regression analysis showed that the use of psychotropic drugs and time of diagnosis were significantly associated with puerperal depressive symptoms.</div></div><div><h3>Conclusion</h3><div>Prenatal diagnosis of CCHD was associated with significantly lower levels of depressive symptoms.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 54-60"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916737","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":"Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil","authors":"Ana Letícia Amorim de Albuquerque ,&nbsp;Júlia Kersting Chadanowicz ,&nbsp;Isabela Possebon Bevilacqua ,&nbsp;Ana Lucia Portella Staub ,&nbsp;Pablo Brea Winckler ,&nbsp;Patricia Zambone da Silva ,&nbsp;Simone Chaves Fagondes ,&nbsp;Renata Salatti Ferrari ,&nbsp;Claudia Denise de Oliveira Trojahn ,&nbsp;Viviane Zechlinski Sacharuk ,&nbsp;Thayne Woycinck Kowalski ,&nbsp;Karina Carvalho Donis ,&nbsp;Michele Michelin Becker ,&nbsp;Jonas Alex Morales Saute","doi":"10.1016/j.jped.2024.07.011","DOIUrl":"10.1016/j.jped.2024.07.011","url":null,"abstract":"<div><h3>Objective</h3><div>Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. This study addresses the scarcity of research on novel disease-modifying therapies for SMA in Latin America by reporting a real-world experience in Southern Brazil.</div></div><div><h3>Methodology</h3><div>This is a single-center historical cohort that included all patients diagnosed with spinal muscular atrophy at a Regional Reference Service for rare diseases.</div></div><div><h3>Results</h3><div>Eighty-one patients were included, of whom 7 died during follow-up. Of the remaining 74 patients, 5.4 % were classified as pre-symptomatic, 24.3 % with SMA type 1, 28.4 % with type 2, 36.5 % with type 3, and 5.4 % with type 4. The mean follow-up time ranged from 1.8 years for pre-symptomatic cases to 8.7 years for SMA types 2 and 3. Approximately 42 % of these patients received specific disease-modifying therapy, of these, 96.8 % received Nusinersen, with 19.4 % transitioning to gene therapy using Onasemnogene Abeparvovec, and 6.4 % starting Risdiplam. Most patients with SMA type 1 were on disease-modifying treatment, whereas only slightly over a third of patients with type 2 and about 10 % of type 3 were receiving such treatments. Among treated patients, 80 % demonstrated improvement in motor performance during the follow-up, with a lesser therapeutic response being associated with late initiation of treatment and low motor function scores at baseline.</div></div><div><h3>Conclusion</h3><div>This real-world study reinforces the effectiveness of disease-modifying therapies for SMA in Brazil within the context of low- and middle-income countries, which is greater the earlier and the better the patient's functional status.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 1","pages":"Pages 38-45"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142465954","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}