Birth Defects Research最新文献

{"title":"Exploring Ensemble Learning Techniques for Infant Mortality Prediction: A Technical Analysis of XGBoost Stacking AdaBoost and Bagging Models","authors":"Indu Verma, Sanjeev Kumar Prasad","doi":"10.1002/bdr2.2443","DOIUrl":"https://doi.org/10.1002/bdr2.2443","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Infant mortality remains a critical public health issue, reflecting the overall health and well-being of a population. Accurate prediction of infant mortality is crucial, as it enables healthcare providers to identify at-risk populations and implement targeted interventions. By analyzing factors such as maternal education, prenatal care access, nutrition, and environmental influences, predictions help in designing effective programs aimed at reducing infant deaths.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This research paper aims to predict infant mortality in India by employing ensemble learning techniques, specifically eXtreme gradient boosting (XGBoost), stacking, adaptive boosting, and bagging. The data for the analysis are sourced from national surveys and demographic studies focusing on infant mortality in India. The collected data underwent rigorous preprocessing steps to prepare it for predictive modeling. Each ensemble learning model is applied to predict infant mortality rates based on the preprocessed data. The XGBoost handles complex and non-linear relationships within the data, and the stacking model is used for the accurate and robust predictions. The adaptive boosting model iteratively trains multiple weak learners, which makes the predictive model as stronger. The adaptive boosting technique enhances the performance of weak classifiers while effectively addressing class imbalance issues. Further, the bagging approach is implemented to derive the linear and non-linear relationships of infant mortality. Models were optimized using k-fold cross-validation to fine-tune their hyper parameters. The predictive ability of the ensemble techniques is analyzed by deploying using different performance parameters.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>XGBoost attained superior performance results, with a 98.75% accuracy, 98.56% precision, and 98.24% recall. The adaptive boosting model strengthened weak learners and addressed class imbalance issues, while the bagging method captures linear and non-linear relationships. Ensemble learning models demonstrated effectiveness in predicting infant mortality, with XGBoost excelling in handling complex and non-linear relationships.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The simulation results revealed that ensemble learning models are highly effective in predicting infant mortality rates in India, with significant regional disparities observed. For example, the Northeast region exhibited the highest predicted infant mortality rates, while the South region recorded the lowest. These findings underscore the need for targeted i","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143362621","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":"Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1","authors":"Ferruccio Romano,&nbsp;Maria Cerminara,&nbsp;Patrizia De Marco,&nbsp;Michele Iacomino,&nbsp;Marco Di Duca,&nbsp;Domenico Tortora,&nbsp;Marco Pavanello,&nbsp;Gianluca Piatelli,&nbsp;Marcello Scala,&nbsp;Federico Zara,&nbsp;Aldamaria Puliti,&nbsp;Valeria Capra","doi":"10.1002/bdr2.2446","DOIUrl":"10.1002/bdr2.2446","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Chiari malformation type 1 (CMI) is defined by the herniation of cerebellar tonsils of 5 mm or more, with possible neurological consequences, including compression of the neural tissue and/or anomalies in cerebral spinal fluid circulation. The etiology of CMI is not fully elucidated, with both genetic and environmental factors being involved. Several genes and pathways involved in bone development are pointed out like genes of the WNT, FGF, and BMP signaling pathways. More recently, the crucial role played by chromatin remodeling genes in the pathogenesis of CMI has increasingly emerged.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this paper, we discuss a familial case of CMI and a single patient, harboring variants in chromatin remodeling genes, identified by whole exome sequencing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The first is a family with three affected members and one sibling with a cerebellar tonsil herniation of &lt; 5 mm. The three CMI patients harbor a heterozygous missense variant in the <i>SETD2</i> gene, whose truncating variants are responsible for Luscan–Lumish syndrome. A second variant in <i>HP1BP3</i>, a gene not previously associated with human pathology, with evidence of skeletal anomalies in mice models, was found in the three patients and also in the girl with a herniation of &lt; 5 mm. The second case is a proband with a de novo variant in <i>KMT2A</i>, associated with Wiedemann–Steiner syndrome, in which anomalies of the craniocervical junction are described.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>We highlight the importance of chromatin remodeling genes in both isolated and syndromic CMI and suggest the potential role of <i>HP1BP3</i> as a possible modifier gene in CMI pathogenesis, even if this association needs to be further clarified.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2446","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188231","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":"A Supra-Numerary Limb Grafted Onto a Sacrococcygeal Mass in a Child With Spinal Dysraphism: Case Report, Dysmorphogenesis, and Management Review","authors":"Kaylene Freitas,&nbsp;Leonor Castro,&nbsp;Carla Pilar,&nbsp;Catarina Barreira,&nbsp;Rosete Nogueira,&nbsp;Jenny Gonçalves","doi":"10.1002/bdr2.2447","DOIUrl":"https://doi.org/10.1002/bdr2.2447","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Externally attached supra-numerary body structures are a rare congenital malformation. Dysmorphogenesis remains controversial, hence many different classifications have been proposed over the years. We report a case of a supra-numerary lower limb grafted onto a sacrococcygeal mass in a child with a myelomeningocele. Prevailing theories for its origin are revised as well as prenatal and postnatal management.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>The case relates to a female neonate with a third lower limb grafted to a lumbosacral mass found upon birth. Postnatal imaging revealed a lipomyelomeningocele and a supra-numerary limb. Surgical intervention was performed on day seven of life with removal of the supra-numerary limb and correction of the dural defect. Anatomopathologic study revealed mature and dysplastic tissues of the three germlines. The infant was discharged after 16 days to follow-up by a multidisciplinary team. In early follow-up, minor asymmetry in lower limb mobility, peri-anal anesthesia, and bladder incontinence was present. Currently 8 years old, the patient has no motor or sensory dysfunction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This case challenges the existing theories for conjoined twinning, as they do not fully explain the co-occurrence of neural tube defects in sacrally fused supra-numerary structures. Whether these malformations are entities of a single disease spectrum or the result of independent dysmorphogenesis is debated. Prenatal diagnosis with sequential investigation of morphogenesis as well as postnatal anatomopathological examination are crucial for a better understanding of complex biologic processes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143112119","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":"Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis","authors":"Feyza Ustabas Kahraman,&nbsp;Uzeyir Jafarov,&nbsp;Hakan Yazan,&nbsp;Ismail Yurtsever,&nbsp;Erkan Cakir,&nbsp;Gozde Yesil Sayin","doi":"10.1002/bdr2.2444","DOIUrl":"https://doi.org/10.1002/bdr2.2444","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Situs inversus totalis (SIT) is present in approximately 40%–50% of patients with primary ciliary dyskinesia (PCD). We evaluated the relationships between novel genetic results and the clinical and radiological characteristics of PCD patients with SIT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 48 patients diagnosed with PCD and SIT. Demographic and clinical features, disease-related scores (Bhalla, Primary Ciliary Dyskinesia Rule [PICADAR], and American Thoracic Society [ATS]), and genetic analyses were retrospectively assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The median age of patients was 13 (6.5–16) years, and parental consanguinity was observed in 43 (89.58%) patients. Bhalla score was available in 31 patients and “moderate and severe” score was observed in 19 (61.29%) patients. The median PICADAR score was 10 (8–11), and 34 (70.83%) patients had a high (≥ 10) PICADAR score. The ATS score was found to be 4 in 24 (50%) patients and 3 in 20 (43.75%) patients. Genetic data were available in 40 patients and mutations were found in 27 (67.5%) patients. The most common pathogenic variants were DNAH5 in 8 (20%), CCDC103 in 4 (10%), and CCDC39 in 3 (7.5%) patients. Subjects with any genetic variants may be older, have a greater frequency of parental consanguinity, higher Bhalla score, and higher ATS score (<i>p</i> &lt; 0.05). DNAH5 mutation was associated with a lower likelihood of neonatal ICU stay and neonatal respiratory distress-related symptoms (<i>p</i> = 0.036 and 0.015, respectively).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Situs abnormalities may be a warning sign for the early diagnosis of PCD. Early diagnosis of PCD through genetic analysis is important for preventing chronic lung pathologies and predicting prognosis and may improve the quality of life.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143112121","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":"Risk of Congenital Ocular Anomaly After Prenatal Exposure to Medications: A EUROmediCAT Study","authors":"E.-A. Cifuentes,&nbsp;A. Beau,&nbsp;A. Caillet,&nbsp;F. Frémont,&nbsp;A. J. Neville,&nbsp;E. Ballardini,&nbsp;H. Dolk,&nbsp;M. Loane,&nbsp;E. Garne,&nbsp;B. Khoshnood,&nbsp;N. Lelong,&nbsp;A. Rissmann,&nbsp;M. O'Mahony,&nbsp;A. Pierini,&nbsp;M. Gatt,&nbsp;J. E. H. Bergman,&nbsp;M. R. Krawczynski,&nbsp;A. Latos Bielenska,&nbsp;L.-J. Echevarría González de Garibay,&nbsp;C. Cavero Carbonell,&nbsp;M.-C. Addor,&nbsp;D. Tucker,&nbsp;S. Jordan,&nbsp;E. Den Hond,&nbsp;V. Nelen,&nbsp;I. Barisic,&nbsp;F. Rouget,&nbsp;H. Randrianaivo,&nbsp;J. Hoareau,&nbsp;I. Perthus,&nbsp;M. Courtade-Saïdi,&nbsp;C. Damase-Michel,&nbsp;C. Dubucs","doi":"10.1002/bdr2.2435","DOIUrl":"10.1002/bdr2.2435","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In Europe, the prevalence of congenital ocular anomaly (COA) is estimated at 3.7 per 10,000 births. While certain COAs have a genetic origin, the cause for most patients remains unknown. The role of medications administered during pregnancy in COA genesis in humans is unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate any association between fetal exposure in the first trimester of pregnancy to medications and the occurrence of COA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a case-malformed-control study using data on 298,351 cases registered as having congenital anomalies (CA) from 19 registries and one healthcare database in 13 European countries. Two analyses were performed: (i) A signal confirmation analysis of signals from the literature, examining associations between COA and specific medications (nitrofurantoin, NSAIDs, opioids, alprazolam, antihypertensives, asthma medications, pyridoxine, and hydroxyethylrutoside). (ii) A signal detection analysis of all medications reported in the database.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified 4185 COA cases and 232,718 nongenetic and 38,409 genetic controls. We confirmed the association between prenatal opioid exposure and COA (aROR: 2.66, 95% CI: 1.18, 6.02, and 3.22, 95% CI: 1.35, 7.69, for nongenetic and genetic controls, respectively). Signal detection analysis revealed consistent associations for antiglaucoma preparations and miotics (<i>p</i> &lt; 0.01) related to COA. Other associations included congenital cataracts and lens anomalies with desloratadine, congenital glaucoma with antiepileptics, and eyelid malformations with dermatological hydrocortisone.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This pharmacoepidemiological study in Europe analyzing COA following fetal medication exposure confirmed reported signals regarding opioids and COA and identified new associations. Validation in independent datasets is necessary to consolidate these findings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073839","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 Generalized Machine Learning Model for Identifying Congenital Heart Defects (CHDs) Using ICD Codes","authors":"Haoming Shi,&nbsp;Wendy M. Book,&nbsp;Lindsey C. Ivey,&nbsp;Fred H. Rodriguez III,&nbsp;Cheryl Raskind-Hood,&nbsp;Karrie F. Downing,&nbsp;Sherry L. Farr,&nbsp;Courtney E. McCracken,&nbsp;Vinita O. Leedom,&nbsp;Susan E. Haynes,&nbsp;Sandra Amouzou,&nbsp;Reza Sameni,&nbsp;Rishikesan Kamaleswaran","doi":"10.1002/bdr2.2440","DOIUrl":"10.1002/bdr2.2440","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p><i>International Classification of Diseases</i> (ICD) codes utilized for congenital heart defect (CHD) case identification in datasets have substantial false-positive (FP) rates. Incorporating machine learning (ML) algorithms following case selection by ICD codes may improve the accuracy of CHD identification, enhancing surveillance efforts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Traditional ML methods were applied to four encounter-level datasets, 2010–2019, for 3334 patients with validated diagnoses and with at least one CHD ICD code identified. A 5-fold cross-validation approach was applied to the dataset to determine the set of overlapping important features best classifying CHD cases. Training and testing combinations were explored to determine the approach yielding the most accurate CHD classification.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>CHD ICD positive predictive values (PPVs) by site ranged from 53.2% to 84.0%. The ML algorithm achieved a PPV of 95% (1273/1340) for the four-site dataset with a false-negative (FN) rate of 33% (639/1912) by choosing an operating point prioritizing PPV from the PPV–FN rate curve. XGBoost reduced 2105 Clinical Classification Software (CCS) features to 137 that identified those with true-positive (TP) CHD and false-positive FP classification.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Applying ML algorithms following case selection by CHD-related ICD codes improved the accuracy of identifying TP true-positive CHD cases.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073838","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":"Pre- and Postnatal Development Study of Nemolizumab, a Humanized Anti-Interleukin-31 Receptor A Monoclonal Antibody, in Cynomolgus Monkey","authors":"Ryuichi Katagiri,&nbsp;Saori Matsuo,&nbsp;Hisashi Ikegami,&nbsp;Akihisa Kaneko,&nbsp;Akihiro Arima,&nbsp;Shuichi Chiba,&nbsp;Masanori Sasaki","doi":"10.1002/bdr2.2442","DOIUrl":"10.1002/bdr2.2442","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Nemolizumab, a humanized monoclonal antibody against interleukin-31 receptor A (IL-31RA), is used to treat atopic dermatitis and prurigo nodularis. These inflammatory skin diseases affect a wide range of age groups, including pregnant women and children; however, little is known about their biological effects on pre- and postnatal development. Therefore, we report and discuss the results of an enhanced pre- and postnatal development study in cynomolgus monkeys treated with nemolizumab, which also incorporates an assessment of juvenile toxicities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Nemolizumab was subcutaneously administered at doses of 1 or 25 mg/kg to pregnant cynomolgus monkeys once every 2 weeks (biweekly) from Gestation Day 20 until delivery, to investigate the potential toxicities on pre- and postnatal development. Additionally, their offspring were subcutaneously dosed biweekly with 1 or 25 mg/kg from approximately 1 to 7 months after birth to investigate the potential toxicities on juveniles, considering the age of the target patient population. The examination included tests for immune function and nervous system involvement by IL-31, as well as the standard assessments outlined in the ICH S5 guideline to comprehensively assess the safety profile.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No nemolizumab-related toxicities were observed in both dams and offspring up to 25 mg/kg. Maternal plasma nemolizumab concentrations were well maintained during the gestation period, gradually decreasing after delivery. Plasma concentrations in the offspring, higher than in dams, was maintained until scheduled necropsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Blocking IL-31 signaling with repeated dosing of nemolizumab did not adversely affect pregnancy, parturition, nursing, or postnatal physical and functional development in cynomolgus monkeys.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143045574","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":"Comorbidities and Healthcare Utilization Among Young Adults With Congenital Heart Defects by Down Syndrome Status—Congenital Heart Survey to Recognize Outcomes, Needs, and wellbeinG, 2016–2019","authors":"Vanessa I. Villamil,&nbsp;Karrie F. Downing,&nbsp;Matthew E. Oster,&nbsp;Jennifer G. Andrews,&nbsp;Maureen K. Galindo,&nbsp;Jenil Patel,&nbsp;Scott E. Klewer,&nbsp;Wendy N. Nembhard,&nbsp;Sherry L. Farr","doi":"10.1002/bdr2.2439","DOIUrl":"10.1002/bdr2.2439","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Almost half of individuals born with Down syndrome (DS) have congenital heart defects (CHDs). Yet, little is known about the health and healthcare needs of adults with CHDs and DS. Therefore, we examined comorbidities and healthcare utilization of this population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data were from the 2016–2019 Congenital Heart Survey to Recognize Outcomes, Needs, and well-beinG (CH STRONG), a survey of 19–38-year-olds with CHDs identified through birth defects registries in Arkansas, Arizona, and Atlanta. Outcome estimates were standardized to the CH STRONG eligible population. Multivariable Poisson regression generated adjusted prevalence ratios (aPRs) for associations between DS and each outcome, adjusting for covariates, including CHD severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 1500 respondents, 9.1% had DS. Compared to those without DS, respondents with DS were more commonly male (55.5% vs. 45.0%), &lt; 25 years old (51.8% vs. 42.7%), non-Hispanic White (72.3% vs. 69.3%), and publicly insured (77.4% vs. 22.8%; all <i>p</i> &lt; 0.05). Of adults with CHDs and DS, 5.5% had cardiac comorbidities, 19.3% had emergency room (ER) visits, 6.2% had hospital admissions, and 1.2% had cost-related delays in care in the last year; 0.1 to 0.6 times lower than adults with CHDs without DS. Additionally, 26.7% had non-cardiac comorbidities (aPR = 1.25 [0.92–1.72]), most commonly sleep apnea (13.7% vs. 3.2%, aPR = 3.67 [2.02–6.67]). Receipt of cardiology care in the last 2 years was similarly low (52.7% vs. 44.7%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Adults with CHDs and DS comprise a substantial percentage of adults with CHDs and have unique health and healthcare needs. Half of adults with CHDs and DS are not receiving recommended routine cardiac care.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143045488","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":"Cognitive, Behavioral and Educational Outcomes in Children Aged 5–11 Years With Spina Bifida in Northern Ireland","authors":"Yogesh Gopal Parajuli,&nbsp;Marlene Sinclair","doi":"10.1002/bdr2.2434","DOIUrl":"10.1002/bdr2.2434","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>While improved medical and surgical care for children with spina bifida has improved their survival, some may have lower cognitive, behavioral and educational performance. The paper assesses the effect of spina bifida on cognitive, behavioral, and educational outcomes in 5–11 year olds.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cross-sectional study design was used where data were collected from parents/guardians and teachers using Behavior Rating Inventory of Executive Function, second edition (BRIEF2), Strengths and Difficulties Questionnaire (SDQ), and Teacher Academic Attainment Scale (TAAS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Nineteen parental and 13 teacher responses were received for children with spina bifida, and 8 parental and seven teacher responses for children without Spina Bifida. Overall, the majority of the sample were female. Children in both groups performed at a similar level across subscales of BRIEF2 with the exception of Working Memory. No group differences were found in SDQ scales as assessed by parents; teacher assessment of conduct problems. Hyperactivity/inattention and peer problems were higher for children with spina bifida. Anticipated matched analysis was not possible due to unequal number of participants between the groups. Children with spina bifida performed similarly as peers without spina bifida in all subjects across the curriculum with the exception of English, Mathematics, and History.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Based on this small sample, a potential need for evidence-based interventions to assist children with spina bifida in the cognitive area of working memory and also in English, Mathematics and History is postulated. Larger longitudinal studies are required to confirm these findings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11742512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999970","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":"Correction to Paternal Valproate Treatment and Risk of Childhood Neurodevelopmental Disorders: Precautionary Regulatory Measures Are Insufficiently Substantiated Garey, J., Damkier, P., Scialli, A., Lusskin, S., Braddock, S., Chouchana, L., Cleary, B., Conover, E., Diav-Citrin, O., Dragovich, R., Garcia-Bournissen, F., Hodson, K., Kennedy, D., Lamm, S., Lavigne, S., Običan, S., Panchaud, A., Perrotta, K., Romeo, A., Shechtman, S. and Weber-Schoendorfer, C. (2024), Paternal Valproate Treatment and Risk of Childhood Neurodevelopmental Disorders: Precautionary Regulatory Measures Are Insufficiently Substantiated. Birth Defects Research, 116: e2392. https://doi.org/10.1002/bdr2.2392","authors":"","doi":"10.1002/bdr2.2430","DOIUrl":"10.1002/bdr2.2430","url":null,"abstract":"&lt;p&gt;\u0000 &lt;span&gt;Garey, J.&lt;/span&gt;, &lt;span&gt;Damkier, P.&lt;/span&gt;, &lt;span&gt;Scialli, A.&lt;/span&gt;, &lt;span&gt;Lusskin, S.&lt;/span&gt;, &lt;span&gt;Braddock, S.&lt;/span&gt;, &lt;span&gt;Chouchana, L.&lt;/span&gt;, &lt;span&gt;Cleary, B.&lt;/span&gt;, &lt;span&gt;Conover, E.&lt;/span&gt;, &lt;span&gt;Diav-Citrin, O.&lt;/span&gt;, &lt;span&gt;Dragovich, R.&lt;/span&gt;, &lt;span&gt;Garcia-Bournissen, F.&lt;/span&gt;, &lt;span&gt;Hodson, K.&lt;/span&gt;, &lt;span&gt;Kennedy, D.&lt;/span&gt;, &lt;span&gt;Lamm, S.&lt;/span&gt;, &lt;span&gt;Lavigne, S.&lt;/span&gt;, &lt;span&gt;Običan, S.&lt;/span&gt;, &lt;span&gt;Panchaud, A.&lt;/span&gt;, &lt;span&gt;Perrotta, K.&lt;/span&gt;, &lt;span&gt;Romeo, A.&lt;/span&gt;, &lt;span&gt;Shechtman, S.&lt;/span&gt; and &lt;span&gt;Weber-Schoendorfer, C.&lt;/span&gt; (&lt;span&gt;2024&lt;/span&gt;), &lt;span&gt;Paternal Valproate Treatment and Risk of Childhood Neurodevelopmental Disorders: Precautionary Regulatory Measures Are Insufficiently Substantiated&lt;/span&gt;. &lt;i&gt;Birth Defects Research&lt;/i&gt;, &lt;span&gt;116&lt;/span&gt;: e2392. https://doi.org/10.1002/bdr2.2392\u0000 &lt;/p&gt;&lt;p&gt;In the originally published article, the affiliations for Shari Lusskin, Stephen R. Braddock, Laurent Chouchana, and Brian Cleary were given incorrectly. The correct authors and affiliations are given below:&lt;/p&gt;&lt;p&gt;Joan D. Garey&lt;sup&gt;1&lt;/sup&gt;, Per Damkier&lt;sup&gt;2,3&lt;/sup&gt;, Anthony R. Scialli&lt;sup&gt;1&lt;/sup&gt;, Shari Lusskin&lt;sup&gt;4&lt;/sup&gt;, Stephen R. Braddock&lt;sup&gt;5&lt;/sup&gt;, Laurent Chouchana&lt;sup&gt;6&lt;/sup&gt;, Brian Cleary&lt;sup&gt;7,8&lt;/sup&gt;, | Elizabeth A. Conover&lt;sup&gt;9&lt;/sup&gt;, Orna Diav-Citrin&lt;sup&gt;10,11&lt;/sup&gt;, Rachel S. Dragovich&lt;sup&gt;12&lt;/sup&gt;, Facundo Garcia-Bournissen&lt;sup&gt;13&lt;/sup&gt;, Ken Hodson&lt;sup&gt;14&lt;/sup&gt;, Debra Kennedy&lt;sup&gt;15&lt;/sup&gt;, Steven H. Lamm&lt;sup&gt;16&lt;/sup&gt;, Sharon A. Lavigne&lt;sup&gt;17&lt;/sup&gt;, Sarah G. Običan&lt;sup&gt;18&lt;/sup&gt;, Alice Panchaud&lt;sup&gt;19,20&lt;/sup&gt;, Kirstie Perrotta&lt;sup&gt;21&lt;/sup&gt;, Alfred N. Romeo&lt;sup&gt;22&lt;/sup&gt;, Svetlana Shechtman&lt;sup&gt;10&lt;/sup&gt;, Corinna Weber-Schoendorfer&lt;sup&gt;23&lt;/sup&gt;.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;1&lt;/sup&gt;Reproductive Toxicology Center, A Non-Profit Foundation, Washington, DC, USA.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;2&lt;/sup&gt;Department of Clinical Research, University of Southern Denmark, Odense, Denmark.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;3&lt;/sup&gt;Department of Clinical Pharmacology, Odense University Hospital, Odense, Denmark.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;4&lt;/sup&gt;Departments of Psychiatry and Obstetrics, Gynecology, and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, New York, USA.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;5&lt;/sup&gt;Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri, USA.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;6&lt;/sup&gt;Regional Center of Pharmacovigilance, Department of Pharmacology, Cochin Port Royal Hospital, APHP, Paris, France.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;7&lt;/sup&gt;The Rotunda Hospital, Dublin, Ireland.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;8&lt;/sup&gt;School of Pharmacy and Biomedical Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;9&lt;/sup&gt;Division of Clinical Genetics, Munroe Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;10&lt;/sup&gt;The Israeli Teratology Information Service, Ministry of Health, Jerusalem, Israel.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;11&lt;/sup&gt;The Hebrew University Hadassah Medical School, Jerusalem, ","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2430","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999960","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}