{"title":"Behavioral problems in adolescents and young adults with neurodevelopmental disorders.","authors":"Yasumichi Kuwahara, Maina Yonezawa, Hiroaki Miya, Masaharu Moroto, Tomoko Iehara","doi":"10.1111/ped.70115","DOIUrl":"https://doi.org/10.1111/ped.70115","url":null,"abstract":"<p><strong>Background: </strong>The increasing prevalence of neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), in children has led to concerns about waiting times for medical evaluation. Thus, Fukuchiyama City Hospital jointly established an ambulatory clinic for children with developmental disorders with the city government in 2010. This study aims to investigate behavioral challenges among patients aged 15 years and older attending the developmental outpatient clinic, particularly those diagnosed with ASD, to highlight challenges related to medical and social treatments.</p><p><strong>Methods: </strong>The study examined patients aged 15 years and older diagnosed with NDD who visited the outpatient clinic for developmental disorders at Fukuchiyama City Hospital from January to December 2023. It collected data on demographics, duration of outpatient visits, diagnoses, current communication skills, and behavioral problems from medical records.</p><p><strong>Results: </strong>Out of 68 patients, 45 were diagnosed with ASD. Communication difficulties were prevalent, with 31.1% lacking significant verbal communication skills. Behavioral problems included behavioral deviance, inattention, hyperactivity, impulsivity, harmful behavior toward others, and self-injury. Low levels of developmental quotient (DQ) were associated with maladaptive behaviors, but harmful behaviors were independent of IQ/DQ.</p><p><strong>Conclusions: </strong>The study highlights the behavioral problems in adolescents and young adult patients with ASD attending developmental clinics. Early and appropriate interventions, such as applied behavior analysis, are critical for addressing these challenging behaviors, especially harmful ones. The support of family and caregivers based on behavior analysis is necessary for enhancing the outcomes and quality of life of individuals with NDD.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e70115"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326549","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":"Differences in arteriovenous carboxyhemoglobin in neonates with noninflammatory pulmonary diseases.","authors":"Toshihiko Nakamura, Daisuke Hatanaka, Eisuke Fukama","doi":"10.1111/ped.70117","DOIUrl":"https://doi.org/10.1111/ped.70117","url":null,"abstract":"<p><strong>Background: </strong>To retrospectively examine whether differences in arteriovenous carboxyhemoglobin (a-vCOHb) can be used as a marker for evaluating the severity of neonatal lung disease that develops soon after birth.</p><p><strong>Methods: </strong>The subjects were 129 newborn neonates who were classified into three groups comprising 48 infants with severe respiratory disorder (group S), 46 with mild-to-moderate respiratory disorder (group M), and 35 in a control group without respiratory disorder (group C). Various parameters including COHb were measured using a blood gas analyzer/oximeter at the time of admission, with sampling of arteries and veins performed at short intervals (within 30 min).</p><p><strong>Results: </strong>The arterial COHb values were significantly higher in group C than in group S. The a-vCOHb values were significantly higher in groups C and M than in group S. This suggested that a loss of carbon monoxide excretion due to the generation of shunt blood with lung collapse at the alveolar level and a decrease in the total amount of carbon monoxide generated within the lungs resulted in the decrease of a-vCOHb values in group S. Receiver operating characteristic curve analysis of a-vCOHb for predicting the need for respiratory support identified an a-vCOHb cut-off value of 0.3% with a sensitivity of 75% and specificity of 74% (p < 0.001).</p><p><strong>Conclusion: </strong>An a-vCOHb cut-off value of 0.3% may be useful in determining the severity of lung disease in the early neonatal period.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e70117"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326551","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 high-throughput TREC- and KREC-based newborn screening for severe inborn errors of immunity.","authors":"Haruka Hiroki, Kunihiko Moriya, Toru Uchiyama, Fumi Hirose, Akifumi Endo, Iori Sato, Yasuhiro Tomaru, Kazumi Sawakami, Norio Shimizu, Hidenori Ohnishi, Tomohiro Morio, Kohsuke Imai","doi":"10.1111/ped.15872","DOIUrl":"10.1111/ped.15872","url":null,"abstract":"<p><strong>Introduction: </strong>Severe combined immunodeficiency (SCID) due to T-cell deficiency is the most severe form of inborn error of immunity (IEI). It frequently leads to severe and recurrent infections and the first infection or live vaccines can sometimes be fatal. Patients with B-cell deficiency (BCD), such as X-linked agammaglobulinaemia (XLA), also suffer from severe or recurrent infections. Thus, early diagnosis via newborn screening (NBS) is suitable for these types of diseases. We developed a lyophylized TaqMan-based quantitative polymerase chain reaction (qPCR) kit with primers and probes for the simultaneous detection of T-cell receptor excision circles (TREC) and κ-deleting recombination excision circles (KREC). We also developed a fully automated DNA extraction and purification process using Magtration technology from dried blood spots (DBS), enabling high-throughput analysis METHODS: We examined 15,258 stored DBS collected from 2014 to 2015 by this method. Newborn screening samples from children with a known SCID, XLA or ataxia-telangiectasia (AT) were also examined as positive controls.</p><p><strong>Results: </strong>RPPH1 (internal control), TREC, and KREC all had near-normal distributions. One specimen was below the cut-off for TREC (0.00657%) after exclusion of 36 specimens due to the failure of DNA extraction (0.23%). The TREC levels in the patients with AT and SCID, and KREC levels in the patients with AT and XLA were all below cut-off or absent.</p><p><strong>Conclusions: </strong>This assay would allow the establishment of qPCR-based NBS in unfamiliar laboratories leading to the early diagnosis of SCID and BCD.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15872"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692893","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":"Immaturity of gut functions and induction of tolerance during early infancy.","authors":"Yoshikazu Ohtsuka, Toshiaki Shimizu","doi":"10.1111/ped.15855","DOIUrl":"10.1111/ped.15855","url":null,"abstract":"<p><p>Tolerance to foreign molecules is primarily induced through three pathways: anergy, active suppression, and clonal deletion. The immaturity of gut functions, including digestion and barrier protection against foreign molecules during early infancy, is closely linked to the induction of tolerance. A significant number of undigested peptides can pass through leaky gut walls during this period, making it an opportune time to introduce active suppression and clonal deletion in the intestine. Increased production and expression of TGF-β and CXCL13 with lymphoid hyperplasia in early infancy can be a convenient way to introduce tolerance and immunoglobulin A (IgA) synthesis against food and other antigens to protect hosts from allergic diseases. In this article we will discuss the immaturity of gut functions and mucosal immunity in infancy and its relationship to the introduction of tolerance.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15855"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910133","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}
Hikaru Nishida, Eri Imagawa, Toshiki Tsunogai, Naoya Saijo, Jin Ogata, Ken Sakurai, Kimihiko Oishi
{"title":"A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant.","authors":"Hikaru Nishida, Eri Imagawa, Toshiki Tsunogai, Naoya Saijo, Jin Ogata, Ken Sakurai, Kimihiko Oishi","doi":"10.1111/ped.15873","DOIUrl":"https://doi.org/10.1111/ped.15873","url":null,"abstract":"","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15873"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009910","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":"Retrospective evaluation of mild encephalitis/encephalopathy with a reversible splenial lesion in children.","authors":"Xin Li, Suzhen Sun, Huifeng Zhang","doi":"10.1111/ped.15869","DOIUrl":"10.1111/ped.15869","url":null,"abstract":"<p><strong>Background: </strong>Comprehensive documentation on consecutive years of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children is lacking. This study aims to provide an in-depth analysis of the clinical profiles of MERS in children across different age groups, focusing on pathogens and recovery time.</p><p><strong>Methods: </strong>In this retrospective study, 43 patients diagnosed with MERS were enrolled between December 2017 and November 2021. Due to different clinical manifestations at different ages, we categorized them into two age groups: the 6-year-old or younger group and the over 6-year-old group. Clinical data were described and compared for these age cohorts.</p><p><strong>Results: </strong>Sixty percent of the cases occurred during winter, with two distinct peaks in onset age, at 1-3 years of age and 7-8 years of age. Intestinal infections were prevalent among children aged below 6 years, mainly caused by rotavirus; convulsion was the most common symptom (92.6% vs. 50%, p = 0.005). Conversely, respiratory tract infections were often observed in children older than 6 years of age, which were mainly attributed to mycoplasma pneumonia; headache and dizziness were characteristic symptoms (62.5% vs. 18.5%, p = 0.003). No significant differences were found in treatment outcomes between the two age groups. Nonetheless, MERS type II exhibited a notably longer clinical recovery time than type I (4.8 ± 1.7 vs. 8.2 ± 5.5).</p><p><strong>Conclusion: </strong>Mild encephalitis/encephalopathy with a reversible splenial lesion exhibits a distinct seasonal pattern with varied clinical manifestations across different age groups. Although the prognosis was favorable, discernible differences in clinical symptoms and pathogens were observed between the two age cohorts. It was noted that the clinical recovery time for MERS type II was comparatively protracted in comparison with type I.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15869"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606093","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":"Liver function trends in children with suspected drug-induced hepatocellular injury: A survey using an electronic medical records database.","authors":"Masayoshi Nakakuni, Kosuke Nakano, Ayano Inui, Shinji Kobayashi, Naoko Deguchi, Seiji Mitsui, Takeshi Kuriyama, Seiko Miyazaki","doi":"10.1111/ped.15847","DOIUrl":"10.1111/ped.15847","url":null,"abstract":"<p><strong>Background: </strong>Drug-induced liver injury (DILI) is a common adverse drug event with limited pediatric data in the literature. This study aimed to use pediatric electronic medical records to assess hepatocellular DILI in pediatric patients who were prescribed liver-injury-inducing drugs.</p><p><strong>Methods: </strong>The Pediatric Medical Information Collection System (P-MICS) is a centralized database integrating electronic medical records from over 40 medical pediatric centers. Pediatric patients in the P-MICS with serum alanine aminotransferase (ALT) levels five or more times the upper limit of normal and who were below 15 years of age were selected. Those with liver diseases unrelated to drug-induced causes were excluded. We identified drugs prescribed 2 to 90 days before the first elevated ALT reading. High-risk liver-injury-causing drugs were determined based on the LiverTox score. We analyzed post-event ALT and total bilirubin levels (TB) and DILI management.</p><p><strong>Results: </strong>Of the 817 patients with suspected DILI, 251 were prescribed four drugs identified as high-risk drugs for hepatocellular DILI: methotrexate (n = 129), aspirin (n = 82), vancomycin (n = 58), and cyclophosphamide (n = 51). The median ALT level at the first event was 245 U/L. Approximately 35% of methotrexate users and cyclophosphamide users experienced recurrent ALT elevation. Some methotrexate users also showed TB elevation. Discontinuation of high-risk drugs resulted in fewer relapses and TB elevations than pharmacotherapy.</p><p><strong>Conclusions: </strong>The P-MICS effectively identifies pediatric patients with potential liver injury and tracks liver function in those prescribed liver-injury-causing drugs. This study underscores liver injury risks in pediatric anticancer drug users, highlighting the utility of the P-MICS in monitoring off-label drug safety in children.</p>","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15847"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449615","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}