Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo最新文献

{"title":"Analysis of heart rate as a predictor of changes in heart rate variability in children.","authors":"Paulo César Trindade Costa, Adélia da Costa Pereira de Arruda Neta, Vinícius José Baccin Martins, José Luiz de Brito Alves","doi":"10.1590/1984-0462/2025/43/2024045","DOIUrl":"10.1590/1984-0462/2025/43/2024045","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the predictive validity and cut-off point of heart rate and blood pressure on heart rate variability (HRV) changes in children with and without obesity.</p><p><strong>Methods: </strong>This study included 125 children, of whom 41 were normal weight and 84 were obese. Anthropometry, blood pressure, heart rate, and HRV were measured using an electronic scale and stadiometer, a sphygmomanometer, and HRV monitor. In addition, the receiver operating characteristic (ROC) curve was obtained by statistical analysis of the data.</p><p><strong>Results: </strong>Heart rate proved to be a good predictor for changes in the square root of the mean of the square of the differences between consecutive NN intervals (RMSSD) parameter in students of both sexes for the normal-weight group (ROC 0.89; 95%CI 0.77-1.00) and obesity (ROC 0.90; 95%CI 0.83-0.97). In addition, the heart rate cut-off point for alterations in the RMSSD parameter for normal-weight boys was 93 bpm (sensitivity 100.00% and specificity 87.50%) and for boys with obesity, the established cut-off point was 91 bpm (sensitivity 94.74% and specificity 63.64%). Heart rate also proved to be a good predictor considering low-frequency/high-frequency ratio (LF/HF) and standard deviation of long-term continuous NN intervals /standard deviation of the instantaneous variability of continuous NN intervals in the Poincaré graph ratio (SD2/SD1). Systolic and diastolic blood pressures were good predictors in more specific stratifications and, therefore, can be used in some cases.</p><p><strong>Conclusions: </strong>The predictive validity of heart rate was shown to be at a good level, with high sensitivity and acceptable specificity for the cut-off points according to the different analyses stratified by gender and nutritional status. In this sense, health professionals will be able to use heart rate to estimate cardiovascular risk in children of different sexes and nutritional status.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024045"},"PeriodicalIF":0.0,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations of lifestyle behaviors with mental health in a nationwide cross-sectional survey of 152,860 Brazilian students.","authors":"Eduardo Rossato de Victo, Gerson Ferrari, Clemens Drenowatz, Dirceu Solé","doi":"10.1590/1984-0462/2025/43/2024080","DOIUrl":"10.1590/1984-0462/2025/43/2024080","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the association between modifiable lifestyle behaviors and mental health indicators in Brazilian adolescents.</p><p><strong>Methods: </strong>This cross-sectional study used data from the 2019 National Survey of School Health including 152,860 students. The lifestyle behaviors and mental health indicators were obtained from a self-reported questionnaire. Logistic regression analyses were used to examine the association between lifestyle behaviors and mental health indicators.</p><p><strong>Results: </strong>Infrequent healthy eating (OR 1.22; 95%CI 1.14-1.31), being inactive (OR 1.82; 95%CI 1.65-2.01), smoking (OR 1.24; 95%CI 1.10-1.40), and irregular school attendance (OR 1.31; 95%CI 1.22-1.40) were associated with not having close friends. Additionally, not having close friends was also associated with unhealthy eating (OR 0.86; 95%CI 0.81-0.92) and alcohol consumption (OR 0.81; 95%CI 0.75-0.87). Infrequent healthy eating (OR 1.29; 95%CI 1.24-1.33), frequent unhealthy eating (OR 1.39; 95%CI 1.35-1.43), being inactive (OR 1.12; 95%CI 1.07-1.18), excessive screen time and sitting (OR 1.10; 95%CI 1.07-1.14 and OR 1.68; 95%CI 1.63-1.73, respectively), smoking (OR 1.26; 95%CI 1.19-1.34), alcohol (OR 1.33; 95%CI 1.28-1.37), drugs (OR 1.13; 95%CI 1.05-1.22), and irregular school attendance (OR 1.53; 95%CI 1.48-1.59) were associated with worse self-rated mental health.</p><p><strong>Conclusions: </strong>Various lifestyle behaviors are associated with different indicators of mental health.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024080"},"PeriodicalIF":0.0,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Children and adolescents with sickle cell disease: characteristics and use of medicinal plants.","authors":"Rebeca Garcia de Paula, Hewerthon Medrado Ribeiro, Luciana de Melo Borges, Lucas Barbosa E Souza, Kellen Lagares Ferreira Silva, Carla Simone Seibert","doi":"10.1590/1984-0462/2025/43/2023262","DOIUrl":"10.1590/1984-0462/2025/43/2023262","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to describe the epidemiological characteristics of pediatric patients with sickle cell disease (SCD) and evaluate the use of medicinal plants in these patients concomitantly with their drug treatment.</p><p><strong>Methods: </strong>This is a review of the medical records of pediatric patients at a public institution with tertiary care. The selection criterion was to be a child or adolescent with SCD undergoing pediatric follow-up at this outpatient clinic. In the medical records of the patients selected, records of the use of plants for medicinal purposes were sought.</p><p><strong>Results: </strong>In total, 154 records (100% of total active patients followed in this clinic) were reviewed: 99 children and 55 adolescents. The predominant genotype was SS (58.4%), followed by SC (29.2%). The use of at least one medication for SCD was reported in 95.5% of the medical records. The use of medicinal plants was reported by 70.1% of patients, with 276 citations in the medical records referring to 64 different types of plants. Six plants were used for the treatment of SCD, the main one being Lemonvine/Ora-pro-nóbis (Pereskia aculeata). The use of medicinal plants was reported for flu-like symptoms and/or COVID-19 (both for prevention and treatment) by 60.5% of the citations, with 35 different plants reported for this use, exclusively or not. This use was followed by pain symptoms (14.2% of citations).</p><p><strong>Conclusions: </strong>The majority of patients in this study use both conventional and traditional/complementary/alternative medicine, highlighting the need for more studies in the area, with a special focus on patient safety.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2023262"},"PeriodicalIF":0.0,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trisomy 13, home health-care and multidisciplinary approach: Case report.","authors":"Patrícia Zschaber Anacleto, Virginia Araújo de Sousa, Julliane V Joviano-Santos","doi":"10.1590/1984-0462/2025/43/2024018","DOIUrl":"10.1590/1984-0462/2025/43/2024018","url":null,"abstract":"<p><strong>Objective: </strong>To recognize and address Patau's syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services.</p><p><strong>Case description: </strong>We present a female patient who defied the odds with a prolonged survival, possible due to Home Care. She was delivered via cesarean section at 31 weeks + 4 days due to restricted uterine growth. The mother, aged 36, had received proper prenatal care and was in good health. The diagnosis of Patau's syndrome was confirmed through karyotyping after birth. Despite the severe clinical nature of the case, the patient, now with two years old, receives specialized home-based care, supported by a tracheostomy and gastrostomy. A dedicated 24-hour nursing technician ensures continuous monitoring, and the patient benefits from regular medical check-ups, physiotherapy five times a week, weekly speech therapy sessions, monthly consultations with a nutritionist, and ongoing psychological support for her family members.</p><p><strong>Comments: </strong>This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024018"},"PeriodicalIF":0.0,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Religiosity and alcohol use in adolescents with orofacial cleft: correlational study.","authors":"Lázaro Clarindo Celestino, Ana Paula Fukushiro, Flávia Maria Ravagnani Neves Cintra, Gesiane Cristina Bom, Claudia Regina Matiole, Armando Dos Santos Trettene","doi":"10.1590/1984-0462/2025/43/2023265","DOIUrl":"10.1590/1984-0462/2025/43/2023265","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the correlation between religiosity and alcohol use among adolescents with orofacial clefts.</p><p><strong>Methods: </strong>Cross-sectional study, developed in a Brazilian public and tertiary hospital, between December 2021 and March 2022. Data collection was hybrid, and three instruments were used: Sociodemographic Questionnaire, Durel Religiosity Scale, and the Alcohol Use Disorders Identification Test. For statistical analysis, the following tests were used: χ2, Fisher's Exact, Mann-Whitney and Spearman's Correlation Coefficient, in addition to analyses of linear correlation strength and bivariate logistic regression. The significance level adopted for all tests was 5% (p≤0.05).</p><p><strong>Results: </strong>370 adolescents participated, with a mean age of 15.2 years (±1.8). Among them, 23 (5.4%) used alcohol riskly or harmfully, being more frequent among male adolescents (p=0.001), those of mixed race (p=0.046), attending high school (p=0.011), with no religion (p<0.001), or who did not attend religious services (p<0.001). Levels of organizational, non-organizational and intrinsic religiosity were significantly lower among adolescents with risky or harmful alcohol use (p=0.005; p<0.001 and p=0.002, respectively). There was a moderate correlation between risky or harmful alcohol use and non-organizational (r=0.31; p=0.002) and intrinsic (r=0.36; p<0.001) religiosity. Male adolescents (p<0.001; OR=6.58), closest in age to 18 years (p<0.001; OR=1.37), and non-practitioners of religion (p<0.001; OR=6. 48) presented higher odds of risky or harmful alcohol use.</p><p><strong>Conclusions: </strong>Adolescents with higher levels of organizational and intrinsic religiosity used less alcohol, while males, closest in age to 18 years, and non-practitioners of religion presented higher odds of using alcohol riskly or harmfully.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2023265"},"PeriodicalIF":0.0,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decannulation protocol in pediatric patients: case series study.","authors":"Luciana Diniz Gomide de Miranda, Luiza Araujo Alves Borges, Laura Caldeira Zavaglia, Tereza Cristina Lara Mesquita, Luanna Rodrigues Leite, Larissa Tavares Aguiar, Isabela Furtado de Mendonça Picinin","doi":"10.1590/1984-0462/2025/43/2023187","DOIUrl":"10.1590/1984-0462/2025/43/2023187","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to describe the phases of a decannulation protocol and the results from its application in hospitalized children.</p><p><strong>Methods: </strong>This is a retrospective, observational study. Data were collected from medical records of decannulated patients followed up in a pediatric hospital in Belo Horizonte, Minas Gerais between 2011 and 2021.</p><p><strong>Results: </strong>Among the children followed up in the service (n=526), 23% (n=120) were successfully decannulated. Children aged between 2 months and 16 years, with a mean age of 4 years, 69% of whom were male, were evaluated. About 75% of the patients have tracheostomy due to upper airway obstruction and 60% of these due to acquired subglottic stenosis. At the beginning of the decannulation protocol, 5.5% of the patients had moderate oropharyngeal dysphagia, while 80.4% had normal swallowing. Correction in the upper airway pre-decannulation was performed in 39.5% of the patients, dilation in 63.8%, and endoscopic correction was performed in 55.3%. After performing the decannulation, none of the patients had complications.</p><p><strong>Conclusions: </strong>The described decannulation protocol is safe, since no complications such as death and need for recannulation happened.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2023187"},"PeriodicalIF":0.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11421412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142334031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brazilian children's quality of life during the COVID-19 pandemic: analysis of contextual factors and dimensions.","authors":"Tainá Ribas Mélo, Luize Bueno de Araujo, Marcos Claudio Signorelli, Paulo Ricardo Bittencourt Guimarães, Vera Lúcia Israel","doi":"10.1590/1984-0462/2025/43/2023175","DOIUrl":"10.1590/1984-0462/2025/43/2023175","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to investigate the contextual factors associated with the quality of life (QOL) of Brazilian children aged 0-12 years during the strict period of social isolation.</p><p><strong>Methods: </strong>This observational cross-sectional study was conducted between July and September 2020 using an online questionnaire on QOL-related family factors and the Pediatric Quality of Life Inventory (PedsQL™). Results were analyzed by multinomial logistic regression analysis.</p><p><strong>Results: </strong>The sample had 849 children, mostly from the South Region of Brazil (75%), white (83%), with typical development (79%), sedentary (68%), using screen (85%) for >3 h/day (44%). Their mothers were their main caregivers (90%). The following variables were significantly associated with high scores of QOL: typical health status (OR 2.38; 95%CI 1.60-3.55; screen time ≤2 h/day (OR 1.62; 95%CI 1.17-2.24); social distancing considered as \"easy\" (OR 1.67; 95%CI 1.20-2.32), and stimulation of the child by the family (OR 1.93; 95%CI 1.08-3.45).</p><p><strong>Conclusions: </strong>This study indicates that the family context can influence children's QOL, especially during the COVID-19 pandemic and home environment reorganization.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2023175"},"PeriodicalIF":0.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11421413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations of screen time with symptoms of stress, anxiety, and depression in adolescents.","authors":"Maria Carolina Juvêncio Francisquini, Thais Maria de Souza Silva, Géssika Castilho Dos Santos, Rodrigo de Oliveira Barbosa, Pedro Henrique Garcia Dias, Ariel Bello Ruiz, Jadson Marcio da Silva, Antonio Stabelini Neto","doi":"10.1590/1984-0462/2025/43/2023250","DOIUrl":"https://doi.org/10.1590/1984-0462/2025/43/2023250","url":null,"abstract":"<p><strong>Objective: </strong>To examine the associations between self-reported screen time and symptoms of stress, anxiety, and depression in adolescents.</p><p><strong>Methods: </strong>A cross-sectional study was conducted with 982 adolescents aged between 12 and 15 years, enrolled in public schools in Jacarezinho (PR), Brazil. Screen time was assessed by the question \"Considering a typical day, how much time do you spend watching TV, playing videogame, using computer or smartphone?\" The DASS-21 questionnaire (short form) was used to assess symptoms of depression, anxiety, and stress. Crude and adjusted analyses (age, sex, and maternal level of education) between screen time and mental disorders symptoms were performed using general linear regression models, with Poisson distribution, with significance level at p<0.05.</p><p><strong>Results: </strong>Higher depressive symptoms were observed in adolescents who reported screen time of 4-6 hours/day (PR 1.35, 95%CI 1.13-1.61) and ≥6 hours/day (PR 1.88, 95%CI 1.62-2.19), compared with their pairs with <2 hours/day. The same was observed for anxiety symptoms with screen time of 4-6 hours/day (PR 1.23, 95%CI 1.04-1.46) and ≥6 hours/day (PR 1.50, 95%CI 1.28-1.77); and stress, with 4-6 hours/day (PR 1.25, 95%CI 1.08-1.44) and ≥6 hours/day (PR 1.49, 95%CI 1.30-1.71), also compared with their pairs with <2 hours/day.</p><p><strong>Conclusions: </strong>Screen time was positively associated with depressive, anxiety, and stress symptoms in adolescents. Special attention should be given to those who spend more than four hours a day in front of a screen.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2023250"},"PeriodicalIF":0.0,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11385738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of functioning and associated factors in children and adolescents with osteogenesis imperfecta.","authors":"Arthur Cherem Netto Fernandes, Têmis Maria Félix","doi":"10.1590/1984-0462/2025/43/2023193","DOIUrl":"https://doi.org/10.1590/1984-0462/2025/43/2023193","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to evaluate the functioning and associated factors in children and adolescents with osteogenesis imperfecta (OI).</p><p><strong>Methods: </strong>This is a cross-sectional study conducted on 30 children and adolescents with OI. Medical records, use of bisphosphonates, socioeconomic status, handgrip strength, balance, joint hypermobility, ambulatory level, and the Pediatric Evaluation of Disability Inventory-Computer Adaptative Test (PEDI-CAT) scores were assessed. Data is presented as mean and standard deviation and Student's t-test or Mann-Whitney U test. Categorical data is presented as frequency and analyzed using Fisher's exact test. Within-group analyses were conducted using ANCOVA or Wilcoxon signed-rank test. Correlations used Kendall's Tau-b test.</p><p><strong>Results: </strong>The participants involved in this study were 6-18 years old. The sample was separated into two groups according to disease severity. The moderate/severe OI group (n=10) presented a lower height and muscular strength than the mild group (n=20). Muscle weakness was observed in all participants with OI when compared with the normal population. No differences were observed between the groups in the PEDI-CAT scores except for the mobility domain. There were correlations between the PEDI-CAT mobility domain and the number of fractures, OI type, weight, and balance; there was also a correlation between the PEDI-CAT daily activities, mobility, responsibility, and social/cognitive domains.</p><p><strong>Conclusions: </strong>The findings suggest that children with moderate/severe forms of OI can achieve the same function levels as children with mild OI. Fractures can have a major influence on the functional level, and treatment should focus on the prevention and rehabilitation of these events when they occur.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2023193"},"PeriodicalIF":0.0,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11385739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Turner syndrome and neuropsychological abnormalities: a review and case series.","authors":"Bruna Baierle Guaraná, Marcela Rodrigues Nunes, Victória Feitosa Muniz, Bruna Lixinski Diniz, Maurício Rouvel Nunes, Ana Kalise Böttcher, Rafael Fabiano Machado Rosa, Rafaella Mergener, Paulo Ricardo Gazzola Zen","doi":"10.1590/1984-0462/2025/43/2023199","DOIUrl":"10.1590/1984-0462/2025/43/2023199","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS).</p><p><strong>Methods: </strong>A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases.</p><p><strong>Results: </strong>Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies.</p><p><strong>Conclusions: </strong>The correlation established could be due to X chromosome dose-effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2023199"},"PeriodicalIF":0.0,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11385741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}