Jornal de pediatria最新文献

{"title":"Transdiagnostic irritability in youth: a clinical review.","authors":"Luiza Magalhaes de Oliveira, Guilherme V Polanczyk, Luisa Shiguemi Sugaya","doi":"10.1016/j.jped.2025.101457","DOIUrl":"https://doi.org/10.1016/j.jped.2025.101457","url":null,"abstract":"<p><strong>Objective: </strong>Irritability is one of the most frequent concerns in pediatric mental health and a predictor of long-term psychopathology and burden. This article aims to provide a comprehensive review of non-episodic irritability along with evidence-based clinical recommendations for pediatric care professionals.</p><p><strong>Sources: </strong>A narrative review was conducted based on the literature from the last 10 years and additional key studies. Observational studies, randomized controlled trials, systematic reviews, and meta-analyses were considered.</p><p><strong>Summary of the findings: </strong>Non-episodic irritability is a transdiagnostic construct associated with several mental disorders. Research on etiological pathways suggests that irritability may involve distinct mechanisms, moderate heritability, and genetic associations with attention-deficit and hyperactivity disorder (ADHD) and depression. Clinical manifestations vary across different developmental stages, and distinguishing pathological from normative irritability may be challenging. Although there is no gold-standard measure, validated instruments are available. Despite recent advances, evidence-based treatment remains limited. Evidence supports psychosocial interventions that integrate parent- and child-focused components, as well as the use of stimulants for patients with comorbid ADHD. Antipsychotics are effective in reducing irritability in children with autism spectrum disorder. However, its use requires caution in non-autistic youth with irritability without a diagnosable disorder or with oppositional defiant disorder due to inconclusive efficacy and potential adverse effects.</p><p><strong>Conclusions: </strong>Although publications on non-episodic irritability have increased, the evidence remains relatively nascent. Further research is needed to advance the knowledge on underlying mechanisms, enhance clinical recognition, identify effective interventions, and support the development of new treatments, ensuring that irritability is adequately addressed in clinical practice.</p>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":" ","pages":"101457"},"PeriodicalIF":2.5,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145292213","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":"Quality improvement initiative to reduce late-onset sepsis in very low birth weight preterm infants: a multicenter study from the Brazilian network on neonatal research.","authors":"Ligia Maria Suppo de Souza Rugolo, Maria Regina Bentlin, Fernanda Pegoraro de Godoi Melo, Maria Eduarda Gurgel, Gabriella Miranda Martins, Suely Dornellas do Nascimento, Edna Maria de Albuquerque Diniz, Renata Yoshida, Jamil Pedro de Siqueira Caldas, Silvia Cwajg, Marcia Pereira Alves de Souza, Clarissa Gutierrez Carvalho, Daniela Marques de Lima Mota Ferreira","doi":"10.1016/j.jped.2025.101459","DOIUrl":"https://doi.org/10.1016/j.jped.2025.101459","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the impact of a quality improvement project (QI) on reducing proven late-onset sepsis (LOS) in centers of the Brazilian Network Neonatal Research (BNNR).</p><p><strong>Method: </strong>An interventional study conducted in 12 BNNR centers from 2021 to 2023. Included preterm infants (PT) born at 22-36 weeks' gestational age, weighing 400-1499 grams, without malformations, and admitted to the NICU for > 72 h. QI tools were used and four process indicators were defined: central catheter complication (≤ 20 %); antibiotic discontinuation ≤48 h in non-infected infants (≥ 80 %); breast milk expression within the first 48 h and enteral feeding within the first 24 h of life (≥ 80 %); full enteral feeding without parenteral nutrition by day 11 (≥ 70 %). The outcome was the proportional reduction of LOS according to each center's baseline (2020). Indicators were analyzed descriptively across three periods.</p><p><strong>Results: </strong>A total of 1993 PT < 1500 grams were included. Half of the centers achieved the target for umbilical catheter complications, and 92 % for percutaneous catheters. Antibiotics were discontinued within 48 h in 67 % of non-infected infants. Early breast milk expression and enteral feeding were achieved in 44 % and 75 % of cases, respectively. 58 % achieved full enteral nutrition without parenteral support by day 11. LOS incidence declined in 67 % of centers, and half met their targets, with an overall 18.5 % reduction.</p><p><strong>Conclusions: </strong>The project reduced LOS in most centers, although some clinical practices still need improvement. It demonstrates a reproducible, low-cost strategy with the potential to guide other neonatal units facing high sepsis incidence.</p>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":" ","pages":"101459"},"PeriodicalIF":2.5,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145286268","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":"Pediatric Stevens-Johnson syndrome and toxic epidermal necrolysis: age-stratified insights from the FAERS database.","authors":"Dilara Bayram-Ozgur, Onur Colak, Onur Gultekin, Narin Akici, Zehra Esra Onal, Ahmet Akici","doi":"10.1016/j.jped.2025.101455","DOIUrl":"https://doi.org/10.1016/j.jped.2025.101455","url":null,"abstract":"<p><strong>Objective: </strong>Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but severe cutaneous adverse drug reactions, particularly concerning in pediatric populations due to their unique etiologies, clinical outcomes, and long-term complications. This study aims to examine pediatric cases of SJS/TEN reported in the U.S. FDA's FAERS database, focusing on age-stratified patterns and drug associations.</p><p><strong>Method: </strong>A retrospective cross-sectional analysis was conducted using FAERS reports submitted until the end of 2024. Pediatric cases (0-17 years) with a diagnosis of SJS or TEN and a single suspected drug were included. Reports were analyzed by age group (0-11 and 12-17 years), gender, and drug classification using ATC codes. Statistical analyses assessed associations between demographic groups and implicated medications.</p><p><strong>Results: </strong>Out of 2673 pediatric reports, 67.4 % involved SJS and 32.6 % TEN. The majority (62.3 %) were in the 0-11 age group. Nervous system agents-especially antiepileptics-were predominantly associated with older children, while systemic antiinfectives such as amoxicillin, azithromycin, and cefaclor were more frequent in younger children. Lamotrigine showed both age groups and female predominance. Conversely, paracetamol and ibuprofen were significantly associated with the TEN phenotypes in younger males.</p><p><strong>Conclusions: </strong>The study reveals clear age- and drug-specific patterns in pediatric SJS/TEN. Findings emphasize the importance of age-stratified pharmacovigilance issues and cautious prescribing of high-risk drugs such as lamotrigine and antibiotics. Better awareness of potential biases, such as protopathic misattribution, is crucial for accurate signal detection in pediatric pharmacovigilance.</p>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":" ","pages":"101455"},"PeriodicalIF":2.5,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145274675","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":"Behavioral approach to autism spectrum disorder: quality versus quantity in interventions","authors":"Jaime Lin ,&nbsp;Júlio César Claudino dos Santos ,&nbsp;Cinara Ludvig Gonçalves","doi":"10.1016/j.jped.2025.101451","DOIUrl":"10.1016/j.jped.2025.101451","url":null,"abstract":"<div><h3>Objective</h3><div>To discuss the importance of balancing quality versus quantity in behavioral interventions for individuals with Autism Spectrum Disorder (ASD), highlighting evidence-based approaches and the role of therapist training.</div></div><div><h3>Data sources</h3><div>Narrative review of the literature examining evidence-based behavioral approaches for ASD, the tension between intervention intensity and quality, factors influencing individualized treatment planning, and the importance of professional qualification.</div></div><div><h3>Summary of findings</h3><div>Evidence indicates that more hours of therapy do not necessarily result in better outcomes, with studies showing no consistent dose–response relationship. Individual learning rates, comorbid conditions, and quality of implementation significantly influence results. High-quality, individualized planning, consistent execution, family engagement, and well-trained professionals are essential. Lack of regulation and standardized training, particularly in contexts without professional certification systems, poses challenges to delivering effective, evidence-based care.</div></div><div><h3>Conclusion</h3><div>Behavioral interventions for ASD must prioritize quality over quantity, ensuring evidence-based, individualized, and well-supervised treatment plans delivered by qualified professionals to achieve meaningful outcomes.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"102 ","pages":"Article 101451"},"PeriodicalIF":2.5,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131132","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":"Development and validation of entrustable professional activities in pediatric surgery for pediatricians","authors":"Rodrigo Pinheiro de Abreu Miranda ,&nbsp;Edna Regina Silva Pereira ,&nbsp;Leopoldo Luiz dos Santos-Neto","doi":"10.1016/j.jped.2025.101444","DOIUrl":"10.1016/j.jped.2025.101444","url":null,"abstract":"<div><h3>Objective</h3><div>To develop and validate entrustable professional activities (EPAs) for the training of pediatric residents on topics that interface with pediatric surgical areas in the Brazilian context.</div></div><div><h3>Methods</h3><div>The study was conducted in two phases. In the first phase, experts were oriented and contextualized, and they were responsible for developing the initial list of EPAs. In the second phase, the Delphi technique was applied in three rounds: the first for consensus, the second for selection according to relevance and agreement, and the third for validation and detailing of the EPAs.</div></div><div><h3>Results</h3><div>In the first phase of the study, 9 experts listed 88 EPAs, which were applied in the Delphi method. In the first round of Delphi, the consensus of these experts defined 31 EPAs, with CVI ≥ 0.80, and ICC of 0.893 (95 % CI 0.823–0.945). In the second round, 25 coordinators of Medical Residency Programs selected 17 EPAs by agreement and relevance (CVI ≥ 0.80, and ICC of 0.851–95 % CI 0.753 to 0.924). In the third round, 50 preceptors from all over Brazil validated 14 EPAs with CVI ≥ 0.965 and ICC 0.866 (95 % CI 0.804–0.915), which were organized and detailed into 7 final EPAs.</div></div><div><h3>Conclusion</h3><div>Seven pediatric surgery EPAs were developed, consensualized, selected, and validated by experts for the work of pediatricians in Brazil through the Delphi method. The great participation and interest of medical residency preceptors with a wide geographical coverage in Brazil were strong points of this study, and these EPAs can be applied, reviewed, and updated.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 6","pages":"Article 101444"},"PeriodicalIF":2.5,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086305","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":"Fluid tolerance assessed by lung ultrasound and effect of crystalloid expansion on extravascular lung water in critically ill children with cancer.","authors":"Bruno S Camargo, Orlei R de Araujo, Dafne Cardoso B da Silva","doi":"10.1016/j.jped.2025.101456","DOIUrl":"https://doi.org/10.1016/j.jped.2025.101456","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the effect of a bolus of saline on extravascular lung water (EVLW), and to analyze correlations of EVLW with outcome.</p><p><strong>Methods: </strong>Prospective cohort. Patients received 10 mL/kg of saline (bolus). Central venous blood gas analysis and echocardiography measurements were performed before and after. Lung ultrasound was performed with 12 measurements, repeated after expansion. Statistics included paired t-test and logistic regression models. The magnitude of the effect was assessed using Cohen's test.</p><p><strong>Results: </strong>88 measurements were made on 83 patients. There was a response to volume in 48 measurements (54.5 %). 28 patients (33.7 %) had signs of shock, and 60 were on mechanical ventilation (MV, 72.2 %). In 68 paired measurements, there was an increase in B-lines after expansion (77.2 %). The mean number of B-lines pre- was 1.42 (SD 1.12) per intercostal space, increasing to 1.71 (SD 1.17) post-expansion (p < 0.001, Cohen's d 0.97). The mean pre-expansion cardiac index was 3.43 L/min/m2 (SD 1.05), increasing to 3.87 (SD 1.21, p < 0.001, Cohen's d = 0.8). In a multivariate model, lactate and mean pre-expansion B-lines were independent predictors of death in ICU: pre-B-lines, Odds ratio 1.87, p = 0.012; pre-lactate OR 1.59, p = 0.012. The same was observed with post-volume B-lines, in a model which also included MV: post-volume B-lines, OR 1.87, p = 0.01; post-volume lactate, OR 1.51, p = 0.03; MV, OR 4.32, p = 0.041.</p><p><strong>Conclusions: </strong>Most patients showed signs of fluid intolerance, with increased EVLW. EVLW assessed by ultrasound is a predictor of mortality.</p>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":" ","pages":"101456"},"PeriodicalIF":2.5,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212308","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":"Myths and facts in the treatment of neurodevelopmental disorders - other therapies.","authors":"Livio Francisco S Chaves, Fábio Borges Pessoa, Pedro Henrique Resende Marques","doi":"10.1016/j.jped.2025.101452","DOIUrl":"https://doi.org/10.1016/j.jped.2025.101452","url":null,"abstract":"<p><strong>Objective: </strong>To critically examine the effectiveness of complementary and alternative therapies (CATs) in the treatment of neurodevelopmental disorders, distinguishing myths from evidence-based practices and supporting informed therapeutic decision-making for healthcare professionals, educators, and families.</p><p><strong>Data sources: </strong>Evidence was collected from PubMed, Scopus, and Web of Science up to August 2025. Systematic reviews, meta-analyses, and international consensus statements addressing attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), specific learning disorders, communication and language disorders, intellectual disability, and developmental coordination disorder were included.</p><p><strong>Summary of findings: </strong>Interest in interventions such as neurofeedback, transcranial direct current stimulation, music therapy, equine-assisted therapy, virtual reality, and gamification has grown substantially. However, most of these approaches lack methodological standardization and robust evidence to justify their use as primary treatments. Some demonstrate modest benefits as adjunctive strategies, especially when integrated into structured programs and supervised by multidisciplinary teams. Conversely, therapies including acupuncture, ozone therapy, and hyperbaric oxygen therapy present insufficient scientific support and should not be considered substitutes for validated methods.</p><p><strong>Conclusion: </strong>Complementary and alternative therapies remain a topic of significant debate in the management of neurodevelopmental disorders. While certain approaches may offer limited adjunctive benefits, their clinical use should be carefully evaluated within evidence-based frameworks. The development of rigorous evaluations, standardized protocols, and the safe integration of innovative technologies is essential to optimize therapeutic outcomes without compromising access to scientifically validated interventions.</p>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":" ","pages":"101452"},"PeriodicalIF":2.5,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191491","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":"Sleep disorder assessment in children and adolescents with neurodevelopmental disorders","authors":"Camila dos Santos El Halal ,&nbsp;Magda Lahorgue Nunes","doi":"10.1016/j.jped.2025.101441","DOIUrl":"10.1016/j.jped.2025.101441","url":null,"abstract":"<div><h3>Objective</h3><div>To review the associations between various neurodevelopmental disorders and the most prevalent sleep disorders in children and adolescents, focusing on clinical characteristics and diagnostic approaches.</div></div><div><h3>Data sources</h3><div>A literature review was conducted using the PubMed database, employing the search terms “neurodevelopmental disorders” and “sleep disorders,” including “insomnia,” “sleep-related breathing disorders,” “circadian rhythm sleep-wake disorders,” “sleep-related movement disorders,” “parasomnias,” and “central disorders of hypersomnolence.” Specific diagnostic terms related to neurodevelopmental and sleep disorders were also utilized. Additionally, the reference lists of selected manuscripts were manually reviewed to identify further relevant publications.</div></div><div><h3>Data synthesis</h3><div>Sleep disorders are frequently associated with neurodevelopmental disorders such as autism spectrum disorder, attention-deficit/hyperactivity disorder, and intellectual disability, as well as genetic syndromes known to predispose individuals to sleep disturbances, including Down syndrome, Smith-Magenis syndrome, Prader-Willi syndrome, and mucopolysaccharidosis type II. These associations are mediated by anatomical, biological, and behavioral mechanisms. Diagnostic evaluation should be guided by clinical suspicion and typically involves a comprehensive clinical history, sleep diaries, standardized questionnaires, and, when indicated, additional diagnostic procedures.</div></div><div><h3>Conclusions</h3><div>Sleep disorders are more prevalent in children and adolescents with neurodevelopmental disorders. A thorough understanding of the most commonly associated sleep disturbances and the implementation of targeted diagnostic strategies are essential for appropriate clinical management and for improving long-term outcomes in this population.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"102 ","pages":"Article 101441"},"PeriodicalIF":2.5,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145000663","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":"Factors associated with weight Z-score in very low birth weight and extremely low birth weight preterm infants during hospitalization","authors":"Eduarda Couto Plácido Nunes ,&nbsp;Eduarda Silva ,&nbsp;Eduarda Dallmann Lopes Pereira ,&nbsp;Karla Pereira Machado ,&nbsp;Sandra Costa Valle","doi":"10.1016/j.jped.2025.101443","DOIUrl":"10.1016/j.jped.2025.101443","url":null,"abstract":"<div><h3>Objective</h3><div>To investigate the behavior of weight-for-age z-score (WAZ) and associated factors in preterm newborns (PTNB) with very low birth weight (VLBW) and extremely low birth weight (ELBW), comparing them to low birth weight (LBW) during four weeks (wk.) of hospitalization in a neonatal intensive care unit (NICU).</div></div><div><h3>Methods</h3><div>Longitudinal study conducted using data from PTNB records in the southern Brazil NICU, between January 2017 and December 2020. Non-twin PTNB with gestational age of ≥ 24 and &lt; 37 wk. and a birth weight (BW) ≥ 500 g were included. The outcome was WAZ, and the exposure was the PTNB’s BW, categorized as VLBW/ELBW (&lt; 1500 g) and LBW (≥ 1500 g up to 2500 g). Energy (kcal/kg/day) and protein (g/kg/day) intakes were also evaluated. Two-way ANOVA and multiple linear regression were used to assess the association between demographic, clinical, and nutritional factors and the WAZ.</div></div><div><h3>Results</h3><div>The majority of PTNB were male (60 %) and had a birth weight ≥1500 g (65 %). A significant interaction was between the BW category and the length of hospitalization on WAZ (<em>F</em> = 4.0; <em>p</em> = 0.003). In the VLBW and ELBW, the WAZ was significantly lower in the first wk. compared to the LBW [−1.05 (−1.34;−0.75) vs −0.34 (−0.49;−0.18)]. Factors such as male sex, sepsis, initiation of enteral nutrition (EN), and protein intake were associated with WAZ behavior.</div></div><div><h3>Conclusion</h3><div>The downward trend of the WAZ curve was associated with the interaction between birth weight and length of hospitalization, especially in PTNB with VLBW and ELBW. The study concluded that male sex and sepsis contributed to the observed decline.</div></div>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":"101 6","pages":"Article 101443"},"PeriodicalIF":2.5,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145040176","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 yield of array-CGH in children with suspected rare disease.","authors":"Pablo Prieto-Matos, María Isidoro-García, Elena Marcos-Vadillo, Ramón Arroyo-Ruiz, María Justel-Rodriguez, Lydia Alcubilla-García, M Carla Criado-Muriel","doi":"10.1016/j.jped.2025.101450","DOIUrl":"https://doi.org/10.1016/j.jped.2025.101450","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to analyze the diagnostic yield of aCGH in pediatric patients with suspected rare diseases, focusing on its diagnostic value and effectiveness depending on different clinical symptoms.</p><p><strong>Methods: </strong>This observational study analyzed 600 aCGH tests performed in a pediatric unit (2018-2022) for patients with suspected rare diseases. DNA was extracted from peripheral blood; aCGH resolution was adjusted to clinical features. CNVs were classified per international guidelines. Forty sociodemographic, clinical, and genetic variables were analyzed using IBM SPSS v.26.</p><p><strong>Results: </strong>Of the 600 patients analyzed, 543 were included in the final study. The median age was 4.7 years (IQR: 6.36 years), and 66.3% were male. Most referrals came from pediatric neurology (84.3%), and the most common clinical manifestations were altered phenotype (38.6%), autism spectrum disorder (ASD) (38.6%), dysmorphia (28.2%), global developmental delay (GDD) (27.1%), and intellectual disability (21.0%). Among 543 patients, 30.4% presented CNVs, with 12.4% identified as pathogenic and 18.1% as variants of uncertain significance. Diagnostic yield was 12.2%, with 66 conclusive results - 90.9% of which were pathogenic. CNVs were most frequently detected on chromosomes 15 and 16. The highest yield was observed in clinical features such as coordination problems (35.7%), learning disorders (28.6%), and microcephaly (22.6%).</p><p><strong>Conclusion: </strong>The diagnostic yield of aCGH in this study was 12.2%. The test demonstrated higher diagnostic value in patients with multiple clinical manifestations, highlighting the importance of aCGH as a first-line diagnostic tool for rare diseases. This technique enables earlier diagnosis, improves clinical management, and provides better counseling for affected families.</p>","PeriodicalId":14867,"journal":{"name":"Jornal de pediatria","volume":" ","pages":"101450"},"PeriodicalIF":2.5,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149065","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}