World journal of clinical pediatrics最新文献

{"title":"Juvenile arthritis damage index predicts poor response to biological treatment: A prospective cohort study.","authors":"Zarina A Kolkhidova, Irina P Nikishina, Svetlana I Glukhova, Oleg G Melikhov, Mikhail M Kostik","doi":"10.5409/wjcp.v14.i4.108878","DOIUrl":"10.5409/wjcp.v14.i4.108878","url":null,"abstract":"<p><strong>Background: </strong>Juvenile arthritis damage index (JADI) is a tool that measures the degree of aggressiveness of the juvenile idiopathic arthritis (JIA) course and assesses articular [JADI - articular damage (JADI-A)] and extraarticular [JADI - extraarticular damage (JADI-E)] damage. While aggressive JIA often requires early biologic disease-modified antirheumatic drugs (bDMARDs), the utility of JADI as a predictor of treatment response remains underexplored.</p><p><strong>Aim: </strong>To evaluate the potential of JADI as a predictor of bDMARD treatment response in JIA patients.</p><p><strong>Methods: </strong>This prospective study included 112 highly active non-systemic JIA biologic-naïve patients with a mean age of 12.2 ± 4.6 years and a median disease duration of 2.5 (interquartile range: 1-5) years. Their clinical and radiological assessment, juvenile arthritis disease activity score 71, JADI-A, and JADI-E, were evaluated twice: Before the biologic initiation (baseline) and 12 months after (end of study). At baseline, 50% had any damage, with 43% with articular damage and 23% with extraarticular damage.</p><p><strong>Results: </strong>During the study, JADI-A/JADI-E improved (33.9%/9.8%), worsened (8.9%/5.4%), or remained unchanged (57.1%/84.8%). Patients with baseline damage had higher markers of JIA activity: Polyarticular course, earlier onset age, ANA-positivity, and more active joints. Patients without initial structural damage (JADI\"-\") were more likely (odds ratio = 3.8, 95% confidence interval: 1.6-9.0, <i>P</i> < 0.004) to achieve a low degree of activity or remission (46.2%), while on biological therapy, their scores were comparable to JADI-positive (18.3%). Pre-biological joint damage according to the JADI-A index (<i>P</i> = 0.003), wrist (<i>P</i> = 0.035), elbow (<i>P</i> = 0.027), cervical spine limitation of motion (<i>P</i> = 0.051), and erosions confirmed by magnetic resonance imaging (<i>P</i> = 0.002), were associated with poor response to biological treatment and follow-up JIA activity.</p><p><strong>Conclusion: </strong>Baseline structural damage in JIA is associated with diminished bDMARDs efficacy, increased disability, and shorter remission duration. JADI enhances conventional clinical risk stratification by facilitating timely initiation of bDMARDs, adherence to treat-to-target strategy and tailored patient care.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"108878"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552161","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":"Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature.","authors":"Ekaterina Nikitina, Olga Kofeynikova, Anna Zlotina, Tatiana Pervunina, Elena Vasichkina, Alexey Golovkin, Olga Kalinina, Anna Kostareva","doi":"10.5409/wjcp.v14.i4.108329","DOIUrl":"10.5409/wjcp.v14.i4.108329","url":null,"abstract":"<p><strong>Background: </strong>In this case report, we aimed to raise awareness regarding arrhythmogenic cardiomyopathy (ACM) with inflammatory \"hot phase\" episodes in pediatric patients, which is often misdiagnosed as myocarditis. This condition, caused by aseptic intracellular inflammation, can be misdiagnosed as acute coronary syndrome or myocardial viral infection, with the latter being particularly common in children. Here, we report two pediatric cases of ACM with \"hot phase\" episodes and discuss the molecular mechanisms leading to aseptic myocardial inflammation due to desmosome and cytoskeletal damage.</p><p><strong>Case summary: </strong>The first patient (aged 13 years) was hospitalized after experiencing a single episode of syncope, chest pain, and palpitation. Clinical examination revealed elevated troponin levels, complete right bundle branch block, right ventricular dilation, and normal coronary arteries. Cardiac magnetic resonance imaging (MRI) revealed extensive fibrotic changes in the right ventricle, which was consistent with ACM, and a pathogenic variant in <i>DSG2</i> confirmed the diagnosis. The second patient (aged 4 years) presented with chest pain and elevated troponin levels. Electrocardiography revealed a left bundle branch block, while echocardiography showed reduced left ventricular contractility. Cardiac MRI demonstrated left ventricular dilation and subepicardial fibrosis. The phenotypic features, such as curly-wool hair, hyperkeratosis, and onychodystrophy, suggested a genetic nature of the disease. Two mutations identified in <i>DSP</i> confirmed the diagnosis of Carvajal syndrome with intermittent \"hot phase\" episodes.</p><p><strong>Conclusion: </strong>ACM in children can present with nonspecific inflammatory symptoms, which may be misdiagnosed as myocarditis or coronary artery pathology.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"108329"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620804/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552218","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":"What should be investigated in delayed umbilical cord separation: Two case reports.","authors":"Dhiaedin A Khiati, Sureyya Savasan","doi":"10.5409/wjcp.v14.i4.107842","DOIUrl":"10.5409/wjcp.v14.i4.107842","url":null,"abstract":"<p><strong>Background: </strong>Delayed umbilical cord separation (UCS) defined as failure of umbilical cord fall beyond 3 weeks is seen in up to 10% of newborns. Since delayed UCS can be associated with leukocyte adhesion deficiency (LAD) or coagulation factor XIII deficiency, these children are commonly referred to hematology/oncology for further investigation. Although the incidence of urachal remnants (UR); also associated with delayed UCS, is more common (1.16%) than LAD (1:1000000 births), and coagulation factor XIII deficiency (1:5000000 births) it's less commonly investigated.</p><p><strong>Case summary: </strong>Two otherwise healthy infants, a 6-week-old female and a 4-week-old male were seen at our hematology/oncology clinic for delayed UCS. In both cases the umbilical cords looked healthy, with no signs of infection or pus, but appeared to show small Umbilical Granulomas. They were both investigated for LAD type I and one was investigated for XIII deficiency, but both tests were negative. These infants however, were investigated <i>via</i> abdominal ultrasound which showed UR in both cases. These infants required no intervention.</p><p><strong>Conclusion: </strong>This report demonstrates an often overlooked association between delayed UCS and UR and suggests abdominal ultrasound if necessary for diagnosis.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"107842"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620783/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552306","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":"Impact of low vision and blindness on characteristics of developmental delay in children younger than 6 years.","authors":"Prakasit Wannapaschaiyong, Suksri Chotikavanich, Sureelak Sutchritpongsa, Pat Rojmahamonkol, Amornrat Penphattarakul, Piangporn Saksiriwutto, Akarawit Eiamsamarng, Simaporn Setthawong, Theerajate Phongsuphan, Piyaphat Jaruniphakul, Rungtip Yingyong, Nattapon Sarinak, Ekpipat Eksupapan, Saranya Sagan, Pridaporn Onlamul","doi":"10.5409/wjcp.v14.i4.111441","DOIUrl":"10.5409/wjcp.v14.i4.111441","url":null,"abstract":"<p><strong>Background: </strong>Visual impairment during early childhood can hinder motor, language, and social development, yet data on its developmental impact across common pediatric ocular diseases remain limited.</p><p><strong>Aim: </strong>To investigate the developmental impact of low vision and blindness on children under six with common ocular diseases.</p><p><strong>Methods: </strong>This retrospective study reviewed records of new patients under six with visual impairment at Siriraj Hospital's low vision rehabilitation center (January 2017-October 2022). We collected ocular, systemic, and developmental data; recorded visual acuity in the better-seeing eye after refractive correction; and assessed developmental domains with the Denver II. Univariable and multivariable logistic regression identified factors associated with developmental delay.</p><p><strong>Results: </strong>A total of 161 pediatric patients (mean age 24.9 ± 18.9 months) were enrolled and evaluated based on their ability to fix on and follow an object or light source. Some were further assessed using the Allen picture chart and all had visual acuity worse than 1.07 ± 0.58 LogMAR, and 83.2% were identified as having global developmental delay (GDD). The three most common ocular causes were cortical visual impairment (CVI), optic neuropathy/atrophy, and optic nerve hypoplasia. Extremely poor visual acuity (inability to fixate and follow) was significantly associated with GDD [adjusted odds ratio (AOR) 41.0] and delays in all developmental domains: Gross motor (AOR 10.0), fine motor (AOR 12.8), language (AOR 5.3), and personal-social skills (AOR 13.4) (<i>P</i> ≤ 0.002). Multiple disabilities, most often visual impairment with cerebral palsy, were also significantly associated with gross motor delays (AOR 7.7) and fine motor delays (AOR 4.0) (<i>P</i> < 0.05). CVI was also related to delays in language and personal-social skills (AOR 9.1 each) (<i>P</i> < 0.05).</p><p><strong>Conclusion: </strong>This study underscores the developmental issues in children with visual impairment, especially those with poorer acuity, CVI, and multiple disabilities. Significant delays were observed in all domains, including GDD. A timely referral to specialists is strongly recommended.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"111441"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552073","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":"Rare case of respiratory syncytial virus induced myocarditis in a neonate: A case report.","authors":"Lema S K Jaber, Mo'ath Abu-Hamdeh, Mahmoud Qouqas, Jamal Abdullah, Rasmea M Asad, Anas Manhal, Duha G M Yadak","doi":"10.5409/wjcp.v14.i4.109877","DOIUrl":"10.5409/wjcp.v14.i4.109877","url":null,"abstract":"<p><strong>Background: </strong>Respiratory syncytial virus (RSV) is a leading cause of lower respiratory tract infections in neonates. While typically associated with bronchiolitis and pneumonia, RSV can rarely cause extrapulmonary complications such as myocarditis, which may present with life-threatening symptoms if not promptly recognized.</p><p><strong>Case summary: </strong>We describe the case of a 26-day-old male neonate who presented with respiratory distress, poor feeding, and irritability. Initial evaluation revealed an RSV infection confirmed <i>via</i> nasopharyngeal swab. As the clinical course progressed, the infant developed cardiac arrhythmias, elevated cardiac enzymes, and echocardiographic findings consistent with myocarditis. Management included mechanical ventilation, corticosteroid therapy, L-carnitine, and vitamin D supplementation. The patient responded well to treatment and was successfully extubated and discharged in stable condition after nine days of hospitalization.</p><p><strong>Conclusion: </strong>This case highlights the importance of early recognition and multidisciplinary management of RSV-associated myocarditis in neonates.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"109877"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552269","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":"Uncovering hidden vitamin D deficiency in overweight children.","authors":"Chandra Sekhar Devulapalli","doi":"10.5409/wjcp.v14.i4.110357","DOIUrl":"10.5409/wjcp.v14.i4.110357","url":null,"abstract":"<p><p>Vitamin D deficiency is disproportionately prevalent among overweight and obese children, with conventional explanations such as poor dietary intake or reduced sun exposure offering only partial insight. Emerging evidence reveals a multifactorial pathophysiology, including sequestration of vitamin D in adipose tissue, altered hepatic metabolism, diminished bioavailability, and inflammation-induced resistance at the tissue level. These mechanisms contribute to a functional deficiency, wherein serum 25-hydroxyvitamin D levels may remain suboptimal despite adequate intake or sun exposure. Obesity-related alterations in vitamin D-binding proteins, receptor expression, and pro-inflammatory signaling further compromise biological activity. Current diagnostic criteria and supplementation guidelines do not fully reflect these physiological complexities, leading to underdiagnosis and insufficient treatment. Personalized approaches-incorporating higher, body composition-adjusted dosing and consideration of inflammatory status-are emerging as promising strategies to restore sufficiency and improve metabolic outcomes. While preliminary evidence supports the safety and efficacy of high-dose supplementation in this population, pediatric-specific clinical trials are lacking. This review synthesizes current understanding of the pathophysiological mechanisms underlying vitamin D deficiency in pediatric obesity and emphasizes the need for individualized, evidence-based interventions to optimize vitamin D status and overall health.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"110357"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620779/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552296","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":"Parallel paths: A narrative review exploring autism and its co-occurring conditions.","authors":"Hasan Hasan, Randi Hagerman, Daphne S Say, Anh P Nguyen, Kikelomo Babata, Temitayo Oyegbile-Chidi, Angel Herrera-Guerra, Carme Torrents, Carrie E Silver, Bibiana Restrepo","doi":"10.5409/wjcp.v14.i4.111641","DOIUrl":"10.5409/wjcp.v14.i4.111641","url":null,"abstract":"<p><p>Autism is a heterogeneous condition with a rising prevalence and demand for specialized care. Autistic children are more likely than neurotypical peers to experience co-occurring conditions (CCs), including medical, psychiatric, and behavioral issues, highlighting the urgent need for autism-competent healthcare providers in general healthcare. This review aims to equip primary care providers (PCPs) with a concise summary of common CCs and strategies for effective identification. A panel of experts with extensive experience in caring for autistic children collaboratively summarized key literature, research evidence, and existing clinical trial outcomes, supplementing their clinical expertise. Autistic children consistently show higher rates of both medical and mental health issues. Despite greater healthcare utilization, many autistic individuals report unmet needs. CCs can impair behavior, functioning, and well-being, but are often treatable when recognized early. Timely identification and management of medical and psychiatric CCs are critical for improving outcomes for autistic children and their families. This evidence-based review supports PCPs in enhancing their knowledge, fostering early recognition, and delivering comprehensive, responsive care.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"111641"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552298","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":"Approach to gallbladder polyps in pediatric patients.","authors":"Eman Al Atrash, Basil Ammori","doi":"10.5409/wjcp.v14.i4.109771","DOIUrl":"10.5409/wjcp.v14.i4.109771","url":null,"abstract":"<p><p>In pediatric patients, gallbladder polyps (GBPs) are lesions that are usually found incidentally on ultrasonography, which is the first-line modality for diagnosis. Though common in adults, GBPs are rare in children, and their prevalence remains unclear. Most GBPs in children are benign, and although the risk of malignancy is influenced by polyp size, growth rate, and morphology, specific criteria for the pediatric population are lacking. Management, therefore, is based on adult guidelines, with cholecystectomy being recommended only in symptomatic patients and for rapidly enlarging or 10-mm polyps and those with unfavorable morphology to avert the risk of malignant transformation, while surveillance is applied to asymptomatic patients with smaller polyps. Further research is needed to develop pediatric-specific guidelines for the management of GBPs. This review discusses the classification, diagnosis, risk factors, and management of pediatric GBPs.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"109771"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620821/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552213","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":"Occult constipation in children: An unaddressed problem of our day-to-day practice.","authors":"M D Benzamin, Md Ziaur Rahman Chowdhury, Pranto Chakroborty, Akhlaq Ahmed, Tuhin Barua Tamal, Tanmoy Deb, Asm Bazlul Karim","doi":"10.5409/wjcp.v14.i4.109590","DOIUrl":"10.5409/wjcp.v14.i4.109590","url":null,"abstract":"<p><strong>Background: </strong>In our day-to-day practice, constipation is a common problem in the pediatric population and cause of frequent visit in outpatient and emergency department. But occult constipation (OC) remains as the most unaddressed problem.</p><p><strong>Aim: </strong>To investigate the clinical profile of OC in children.</p><p><strong>Methods: </strong>It was a prospective observational study, done in Bangladesh from January 2022 to December 2024. It included all consecutive children diagnosed as OC and were treated accordingly. Before diagnosis, secondary causes of the presenting symptoms were excluded with appropriate investigations. They were followed up monthly for 4 months and treatment response were measured by improvement of symptoms.</p><p><strong>Results: </strong>A total of 404 children were included in this study with mean age group of 76.50 ± 36.62 months, and male-female ratio of 1.67:1. The most common presenting complaint was abdominal pain (66%), followed by anorexia (49%), vomiting (24%), nausea (17%), frequent defecation with small volume stool (17%), altered bowel habit (16%), failure to thrive (14%) and recurrent helminthiasis (12%). Interestingly, 2.5% children presented with persistent diarrhea.</p><p><strong>Conclusion: </strong>Abdominal pain is the most common presentation of OC. When symptoms cannot be explained by other etiology, OC should be kept in mind.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"109590"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552253","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":"Monogenic defects in Russian children with autism spectrum disorders.","authors":"Evgeny N Suspitsin, Kristina S Malysheva, Sergey A Laptiev, Olga S Sharonova, Anastasiya S Abuzova, Anastasiya A Kuznitsyna, Tatyana V Melashenko, Oksana V Efremova, Polina R Korzun, Jeyla O Binnatova, Yuliy A Gorgul, Maria V Syomina, Evgeny N Imyanitov","doi":"10.5409/wjcp.v14.i4.108733","DOIUrl":"10.5409/wjcp.v14.i4.108733","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Autism spectrum disorders (ASD) represent a substantial social problem affecting at least 1 in 100 children worldwide. These conditions are very often accompanied by intellectual disability (ID) and speech delay; thus, they can be considered within a clinical continuum of neurodevelopmental disorders. Given the high heterogeneity of ASD, the subjective nature of diagnostic criteria, and the presence of phenocopies, identifying genetic determinants of these disorders remains a challenge.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Aim: &lt;/strong&gt;To investigate the spectrum and frequency of rare genetic variants in genes with proven association with ASD in Russian children.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;110 patients from 106 families were recruited into the study (mean age at diagnosis 6 years; boy-to-girl ratio 3:1. Most of the patients (84%) demonstrated a combination of ASD with developmental delay (DD) or ID. Patients with syndromic features were subjected to the chromosomal microarray analysis. The remained children underwent clinical exome sequencing aimed at identifying presumably monogenic causes of ASD. The study focused on rare (minor allele frequency ≤ 0.001) variants affecting high-confidence ASD-associated genes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Pathogenic copy number variations were detected in three (7%) of the patients examined. Clinical exome sequencing revealed pathogenic/likely pathogenic variants in 12 of 105 cases (11%), indicating the presence of monogenic syndromes with established clinical significance (Pitt-Hopkins syndrome, ZTTK syndrome, syndromic X-linked ID of Billuart type, Snijders-Blok-Campeau, Helsmoortel-van der Aa, Coffin-Siris, Clark-Baraitser, Keefstra syndromes, &lt;i&gt;etc.&lt;/i&gt;). In addition, 27 patients (26%) had 37 rare variants of unknown clinical significance in &lt;i&gt;DSCAM&lt;/i&gt;, &lt;i&gt;SHANK2&lt;/i&gt;, &lt;i&gt;AUTS2&lt;/i&gt;, &lt;i&gt;ADNP&lt;/i&gt;, &lt;i&gt;ANKRD11&lt;/i&gt;, &lt;i&gt;APBA2&lt;/i&gt;, &lt;i&gt;ARID1B&lt;/i&gt;, &lt;i&gt;ASTN2&lt;/i&gt;, &lt;i&gt;ATRX&lt;/i&gt;, &lt;i&gt;SCN1A&lt;/i&gt;, &lt;i&gt;CHD2&lt;/i&gt;, &lt;i&gt;DEAF1&lt;/i&gt;, &lt;i&gt;EHMT1&lt;/i&gt;, &lt;i&gt;GRIN2B&lt;/i&gt;, &lt;i&gt;NBEA&lt;/i&gt;, &lt;i&gt;NR4A2&lt;/i&gt;, &lt;i&gt;TRIO&lt;/i&gt;, &lt;i&gt;TRIP12&lt;/i&gt;, &lt;i&gt;POGZ&lt;/i&gt;, &lt;i&gt;EP300&lt;/i&gt;, &lt;i&gt;FOXP1&lt;/i&gt;, &lt;i&gt;PCDH19&lt;/i&gt;, &lt;i&gt;GRIN2A&lt;/i&gt;, &lt;i&gt;NCKAP1&lt;/i&gt;, and &lt;i&gt;CHD8&lt;/i&gt; genes. No specific variant was detected more than once in unrelated patients. Among the genes with rare variants found in 2 or more patients were &lt;i&gt;TRIP12&lt;/i&gt; (&lt;i&gt;n&lt;/i&gt; = 4), &lt;i&gt;AUTS2&lt;/i&gt; (&lt;i&gt;n&lt;/i&gt; = 3), &lt;i&gt;ARID1B&lt;/i&gt; (&lt;i&gt;n&lt;/i&gt; = 3), &lt;i&gt;PCDH19&lt;/i&gt; (&lt;i&gt;n&lt;/i&gt; = 3), &lt;i&gt;EP300&lt;/i&gt; (&lt;i&gt;n&lt;/i&gt; = 3), &lt;i&gt;TRIO&lt;/i&gt; (&lt;i&gt;n&lt;/i&gt; = 2), &lt;i&gt;ASTN2&lt;/i&gt; (&lt;i&gt;n&lt;/i&gt; = 2), &lt;i&gt;EHMT1&lt;/i&gt; (&lt;i&gt;n&lt;/i&gt; = 2), and &lt;i&gt;CHD2&lt;/i&gt; (&lt;i&gt;n&lt;/i&gt; = 2). Of note, 5 male ASD/DD patients from 3 unrelated families had &lt;i&gt;PCDH19&lt;/i&gt; missense variants, confirming that at least some hemizygous males with non-mosaic &lt;i&gt;PCDH19&lt;/i&gt; variants may present with neurobehavioral abnormalities. These variants did not cause epilepsy restricted to females in patients' mothers or sisters.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;These data confirm a tremendous diversity of ","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"14 4","pages":"108733"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12620798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145552258","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}