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Urinary Microbiota of Healthy Prepubescent Girls and Boys-A Pilot Study.
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-29 DOI: 10.3390/children12010040
Yulia L Naboka, Mikhail I Kogan, Johannes M Mayr, Irina A Gudima, Elizaveta M Koliva, Violetta M Kotieva, Marina L Chernytskaya, Vladimir V Sizonov

Background: The urinary microbiota of healthy children has rarely been studied, and potential differences between boys and girls have not been addressed. Thus, this study aimed to compare the urinary microbiota of healthy prepubescent girls and boys.

Methods: We included healthy children aged between 4 and 10 years who were free of functional or organic urinary tract diseases and had no history of urinary tract infection. We collected the mean portion of morning urine during natural micturition and determined aerobic and anaerobic microbiota using HiCrome™ chromogenic growth media. We identified microorganisms on the basis of morphotinctural properties and analyzed α- and β-diversity of microorganisms isolated from the urine of boys and girls.

Results: Mean age of the children was 6.1 ± 3.2 years. In general, four-component (28.1%) as well as two-component (15.6%), three-component (15.6%), and six-component (12.5%) combinations of microorganisms prevailed in the urine of children. The urine of boys exhibited four-component combinations significantly more often than that of girls (p ˂ 0.05), while the urine of girls contained seven-component microbial combinations significantly more often than that of boys (p ˂ 0.05). Comparison of multicomponent combinations of microorganisms in boys and girls revealed an overrepresentation of Enterococcus spp. in girls (p < 0.05). Furthermore, there was a trend towards higher microbial α-diversity in the urine of girls, but the difference between girls and boys was not significant.

Conclusions: The urine of healthy prepubescent children contained various aerobic-anaerobic combinations of microorganisms. Their diversity in the urine of girls and boys did not differ significantly. However, the level of α-diversity of microorganisms was higher in girls than in boys. We noted differences in the prevalence of certain taxa of microorganisms in the urine of boys and girls. Our study showed a close functional relationship between aerobic and anaerobic microorganisms detected in the urine of children in more than half of the cases.

{"title":"Urinary Microbiota of Healthy Prepubescent Girls and Boys-A Pilot Study.","authors":"Yulia L Naboka, Mikhail I Kogan, Johannes M Mayr, Irina A Gudima, Elizaveta M Koliva, Violetta M Kotieva, Marina L Chernytskaya, Vladimir V Sizonov","doi":"10.3390/children12010040","DOIUrl":"10.3390/children12010040","url":null,"abstract":"<p><strong>Background: </strong>The urinary microbiota of healthy children has rarely been studied, and potential differences between boys and girls have not been addressed. Thus, this study aimed to compare the urinary microbiota of healthy prepubescent girls and boys.</p><p><strong>Methods: </strong>We included healthy children aged between 4 and 10 years who were free of functional or organic urinary tract diseases and had no history of urinary tract infection. We collected the mean portion of morning urine during natural micturition and determined aerobic and anaerobic microbiota using HiCrome™ chromogenic growth media. We identified microorganisms on the basis of morphotinctural properties and analyzed α- and β-diversity of microorganisms isolated from the urine of boys and girls.</p><p><strong>Results: </strong>Mean age of the children was 6.1 ± 3.2 years. In general, four-component (28.1%) as well as two-component (15.6%), three-component (15.6%), and six-component (12.5%) combinations of microorganisms prevailed in the urine of children. The urine of boys exhibited four-component combinations significantly more often than that of girls (<i>p</i> ˂ 0.05), while the urine of girls contained seven-component microbial combinations significantly more often than that of boys (<i>p</i> ˂ 0.05). Comparison of multicomponent combinations of microorganisms in boys and girls revealed an overrepresentation of <i>Enterococcus</i> spp. in girls (<i>p</i> < 0.05). Furthermore, there was a trend towards higher microbial α-diversity in the urine of girls, but the difference between girls and boys was not significant.</p><p><strong>Conclusions: </strong>The urine of healthy prepubescent children contained various aerobic-anaerobic combinations of microorganisms. Their diversity in the urine of girls and boys did not differ significantly. However, the level of α-diversity of microorganisms was higher in girls than in boys. We noted differences in the prevalence of certain taxa of microorganisms in the urine of boys and girls. Our study showed a close functional relationship between aerobic and anaerobic microorganisms detected in the urine of children in more than half of the cases.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042117","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}
引用次数: 0
Human Herpesviruses, Bacteria, and Fungi in Gingivitis and Periodontitis Pediatric Subjects: A Systematic Review.
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-29 DOI: 10.3390/children12010039
Federica Di Spirito, Massimo Pisano, Mario Caggiano, Giuseppina De Benedetto, Maria Pia Di Palo, Gianluigi Franci, Massimo Amato

Objectives: This systematic review assesses and compares the presence and relative abundance of periodontal pathogens, human herpesviruses (HHVs), and fungi in subgingival and/or saliva samples from pediatric subjects (≤18 years of age) with periodontally healthy status and with gingivitis and/or periodontitis. Methods: The study protocol was conducted under the PRISMA statement and registered on PROSPERO (CRD42024593007). Data from seven studies were descriptively analyzed and qualitatively assessed through the ROBINS-1 and JBI tools. Results: Pediatric subjects with clinically healthy periodontium exhibited a balanced microbiome, with early colonizers (Streptococcus species) supporting biofilm development and late colonizers like Fusobacterium nucleatum, Treponema denticola (82.35%), and Porphyromonas gingivalis (29.7%) present at low levels, suggesting subclinical dysbiosis. Viruses such as HSV-I (100%), CMV (17.8%), and EBV-I (22.09%) coexisted in a likely latent state, maintained by effective immune responses. In pediatric periodontitis, biofilms were more diverse and pathogenic, with increased prevalence of A. actinomycetemcomitans (56.09%), P. gingivalis (55.4%), and T. forsythia (35.9%). Generalized periodontitis showed higher CMV (36.36%) and EBV-I (36.24%) prevalence than gingivitis (HSV-I 18.75%). Coinfections were frequent in periodontitis, suggesting bacterial-viral synergy in exacerbating inflammation and tissue destruction. Fungi, although not studied, may also contribute under specific conditions. Conclusions: These findings highlight the role of microbial interactions in periodontal health and disease progression.

{"title":"Human Herpesviruses, Bacteria, and Fungi in Gingivitis and Periodontitis Pediatric Subjects: A Systematic Review.","authors":"Federica Di Spirito, Massimo Pisano, Mario Caggiano, Giuseppina De Benedetto, Maria Pia Di Palo, Gianluigi Franci, Massimo Amato","doi":"10.3390/children12010039","DOIUrl":"10.3390/children12010039","url":null,"abstract":"<p><p><b>Objectives:</b> This systematic review assesses and compares the presence and relative abundance of periodontal pathogens, human herpesviruses (HHVs), and fungi in subgingival and/or saliva samples from pediatric subjects (≤18 years of age) with periodontally healthy status and with gingivitis and/or periodontitis. <b>Methods:</b> The study protocol was conducted under the PRISMA statement and registered on PROSPERO (CRD42024593007). Data from seven studies were descriptively analyzed and qualitatively assessed through the ROBINS-1 and JBI tools. <b>Results:</b> Pediatric subjects with clinically healthy periodontium exhibited a balanced microbiome, with early colonizers (<i>Streptococcus</i> species) supporting biofilm development and late colonizers like <i>Fusobacterium nucleatum</i>, <i>Treponema denticola</i> (82.35%), and <i>Porphyromonas gingivalis</i> (29.7%) present at low levels, suggesting subclinical dysbiosis. Viruses such as HSV-I (100%), CMV (17.8%), and EBV-I (22.09%) coexisted in a likely latent state, maintained by effective immune responses. In pediatric periodontitis, biofilms were more diverse and pathogenic, with increased prevalence of <i>A. actinomycetemcomitans</i> (56.09%), <i>P. gingivalis</i> (55.4%), and <i>T. forsythia</i> (35.9%). Generalized periodontitis showed higher CMV (36.36%) and EBV-I (36.24%) prevalence than gingivitis (HSV-I 18.75%). Coinfections were frequent in periodontitis, suggesting bacterial-viral synergy in exacerbating inflammation and tissue destruction. Fungi, although not studied, may also contribute under specific conditions. <b>Conclusions:</b> These findings highlight the role of microbial interactions in periodontal health and disease progression.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042397","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}
引用次数: 0
Cardiovascular Disease Screening in Primary School Children.
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-29 DOI: 10.3390/children12010038
Alena Bagkaki, Fragiskos Parthenakis, Gregory Chlouverakis, Emmanouil Galanakis, Ioannis Germanakis

Background: Screening for cardiovascular disease (CVD) and its associated risk factors in childhood facilitates early detection and timely preventive interventions. However, limited data are available regarding screening tools and their diagnostic yield when applied in unselected pediatric populations.

Aims: To evaluate the performance of a CVD screening program, based on history, 12-lead ECG and phonocardiography, applied in primary school children.

Methods: The methods used were prospective study, with voluntary participation of third-grade primary school children in the region of Crete/Greece, over 6 years (2018-2024). Personal and family history were collected by using a standardized questionnaire and physical evaluation (including weight, height, blood pressure measurement), and cardiac auscultation (digital phonocardiography (PCG)) and 12-lead electrocardiogram (ECG) were recorded at local health stations (Phase I). Following expert verification of responses and obtained data, assisted by designated electronic health record with incorporated decision support algorithms (phase II), pediatric cardiology evaluation at the tertiary referral center followed (phase III).

Results: A total of 944 children participated (boys 49.6%). A total of 790 (83.7%) had Phase I referral indication, confirmed in 311(32.9%) during Phase II evaluation. Adiposity (10.8%) and hypertension (3.2%) as risk factors for CVD were documented in 10.8% and 3.2% of the total population, respectively. During Phase III evaluations (n = 201), the majority (n = 132, 14% of total) of children were considered as having a further indication for evaluation by other pediatric subspecialties for their reported symptoms. Abnormal CVD findings were present in 69 (7.3%) of the study population, including minor/trivial structural heart disease in 23 (2.4%) and 17 (1.8%), respectively, referred due to abnormal cardiac auscultation, and ECG abnormalities in 29 (3%), of which 6 (0.6%) were considered potentially significant (including 1 case of genetically confirmed channelopathy-LQT syndrome).

Conclusions: CVD screening programs in school children can be very helpful for the early detection of CVD risk factors and of their general health as well. Expert cardiac auscultation and 12-lead ECG allow for the detection of structural and arrhythmogenic heard disease, respectively. Further study is needed regarding performance of individual components, accuracy of interpretation (including computer assisted diagnosis) and cost-effectiveness, before large-scale application of CVD screening in unselected pediatric populations.

{"title":"Cardiovascular Disease Screening in Primary School Children.","authors":"Alena Bagkaki, Fragiskos Parthenakis, Gregory Chlouverakis, Emmanouil Galanakis, Ioannis Germanakis","doi":"10.3390/children12010038","DOIUrl":"10.3390/children12010038","url":null,"abstract":"<p><strong>Background: </strong>Screening for cardiovascular disease (CVD) and its associated risk factors in childhood facilitates early detection and timely preventive interventions. However, limited data are available regarding screening tools and their diagnostic yield when applied in unselected pediatric populations.</p><p><strong>Aims: </strong>To evaluate the performance of a CVD screening program, based on history, 12-lead ECG and phonocardiography, applied in primary school children.</p><p><strong>Methods: </strong>The methods used were prospective study, with voluntary participation of third-grade primary school children in the region of Crete/Greece, over 6 years (2018-2024). Personal and family history were collected by using a standardized questionnaire and physical evaluation (including weight, height, blood pressure measurement), and cardiac auscultation (digital phonocardiography (PCG)) and 12-lead electrocardiogram (ECG) were recorded at local health stations (Phase I). Following expert verification of responses and obtained data, assisted by designated electronic health record with incorporated decision support algorithms (phase II), pediatric cardiology evaluation at the tertiary referral center followed (phase III).</p><p><strong>Results: </strong>A total of 944 children participated (boys 49.6%). A total of 790 (83.7%) had Phase I referral indication, confirmed in 311(32.9%) during Phase II evaluation. Adiposity (10.8%) and hypertension (3.2%) as risk factors for CVD were documented in 10.8% and 3.2% of the total population, respectively. During Phase III evaluations (<i>n</i> = 201), the majority (<i>n</i> = 132, 14% of total) of children were considered as having a further indication for evaluation by other pediatric subspecialties for their reported symptoms. Abnormal CVD findings were present in 69 (7.3%) of the study population, including minor/trivial structural heart disease in 23 (2.4%) and 17 (1.8%), respectively, referred due to abnormal cardiac auscultation, and ECG abnormalities in 29 (3%), of which 6 (0.6%) were considered potentially significant (including 1 case of genetically confirmed channelopathy-LQT syndrome).</p><p><strong>Conclusions: </strong>CVD screening programs in school children can be very helpful for the early detection of CVD risk factors and of their general health as well. Expert cardiac auscultation and 12-lead ECG allow for the detection of structural and arrhythmogenic heard disease, respectively. Further study is needed regarding performance of individual components, accuracy of interpretation (including computer assisted diagnosis) and cost-effectiveness, before large-scale application of CVD screening in unselected pediatric populations.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042078","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}
引用次数: 0
Advancing Pediatric Surgery: The Use of HoloLens 2 for 3D Anatomical Reconstructions in Preoperative Planning.
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-28 DOI: 10.3390/children12010032
Marco Di Mitri, Annalisa Di Carmine, Simone D'Antonio, Benedetta Maria Capobianco, Cristian Bisanti, Edoardo Collautti, Sara Maria Cravano, Francesca Ruspi, Michele Libri, Tommaso Gargano, Mario Lima

Background: In pediatric surgery, a comprehensive knowledge of the child's anatomy is crucial to optimize surgical outcomes and minimize complications. Recent advancements in medical imaging and technology have introduced innovative tools that enhance surgical planning and decision-making.

Methods: This study explores the integration of mixed reality technology, specifically the HoloLens 2 headset, for visualization and interaction with three-dimensional (3D) anatomical reconstructions obtained from computed tomography (CT) scans. Our prospective observational study, conducted at IRCCS (Scientific Hospitalization and Care Institute) Sant'Orsola-Malpighi University Hospital in Bologna, engaged ten pediatric surgeons, who assessed three types of anatomical malformations (splenic cysts, pulmonary cystic adenomatoid malformations, and pyelo-ureteral junction stenosis) and planned surgeries using both traditional 2D CT scans and 3D visualizations via HoloLens 2, followed by completing a questionnaire to evaluate the utility of each of these imaging techniques in surgical planning.

Results: The statistical analysis revealed that the 3D visualizations significantly outperformed the 2D CT scans in clarity and utility (p < 0.05). The results indicated significant improvements in anatomy understanding and surgical precision. The immersive experience provided by HoloLens 2 enabled surgeons to better identify critical landmarks, understand spatial relationships, and prevent surgical challenges. Furthermore, this technology facilitated collaborative decision-making and streamlined surgical workflows.

Conclusions: Despite some challenges in ease of use, HoloLens 2 showed promising results in reducing the learning curve for complex procedures. This study underscores the transformative potential of mixed reality technology in pediatric surgery, advocating for further research and development to integrate these advancements into routine clinical practice.

{"title":"Advancing Pediatric Surgery: The Use of HoloLens 2 for 3D Anatomical Reconstructions in Preoperative Planning.","authors":"Marco Di Mitri, Annalisa Di Carmine, Simone D'Antonio, Benedetta Maria Capobianco, Cristian Bisanti, Edoardo Collautti, Sara Maria Cravano, Francesca Ruspi, Michele Libri, Tommaso Gargano, Mario Lima","doi":"10.3390/children12010032","DOIUrl":"10.3390/children12010032","url":null,"abstract":"<p><strong>Background: </strong>In pediatric surgery, a comprehensive knowledge of the child's anatomy is crucial to optimize surgical outcomes and minimize complications. Recent advancements in medical imaging and technology have introduced innovative tools that enhance surgical planning and decision-making.</p><p><strong>Methods: </strong>This study explores the integration of mixed reality technology, specifically the HoloLens 2 headset, for visualization and interaction with three-dimensional (3D) anatomical reconstructions obtained from computed tomography (CT) scans. Our prospective observational study, conducted at IRCCS (Scientific Hospitalization and Care Institute) Sant'Orsola-Malpighi University Hospital in Bologna, engaged ten pediatric surgeons, who assessed three types of anatomical malformations (splenic cysts, pulmonary cystic adenomatoid malformations, and pyelo-ureteral junction stenosis) and planned surgeries using both traditional 2D CT scans and 3D visualizations via HoloLens 2, followed by completing a questionnaire to evaluate the utility of each of these imaging techniques in surgical planning.</p><p><strong>Results: </strong>The statistical analysis revealed that the 3D visualizations significantly outperformed the 2D CT scans in clarity and utility (<i>p</i> < 0.05). The results indicated significant improvements in anatomy understanding and surgical precision. The immersive experience provided by HoloLens 2 enabled surgeons to better identify critical landmarks, understand spatial relationships, and prevent surgical challenges. Furthermore, this technology facilitated collaborative decision-making and streamlined surgical workflows.</p><p><strong>Conclusions: </strong>Despite some challenges in ease of use, HoloLens 2 showed promising results in reducing the learning curve for complex procedures. This study underscores the transformative potential of mixed reality technology in pediatric surgery, advocating for further research and development to integrate these advancements into routine clinical practice.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763531/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143041437","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}
引用次数: 0
Contemporary Normative Values for Five Common Static Standing Tasks on Firm and Compliant Floor Surfaces in Children Two to Thirteen Years.
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-28 DOI: 10.3390/children12010035
Nancy S Darr, Mary Rose Franjoine, Cathey Norton, Brenda L Young

Background/objectives: Static upright tasks, including standing unsupported (SU), eyes closed (SEC), feet together (SFT), tandem (TS), and single limb (SLS), are routinely examined in children and are included in many norm-referenced measures. Existing normative values for these standing tasks may not apply to contemporary children and have not been established across wide age ranges. The primary purpose of this study was to investigate developmental trajectories of and relationships between four static standing positions (SPs [SU, SFT, TS, SLS]) in children aged 2 through 13 years who are developing typically. The effects of altered sensory input, including floor surface (firm and compliant) and vision (eyes open [SU] and eyes closed [SEC]), as well as influences of sex, height, weight, and BMI on static standing were also examined.

Methods: Children (n = 807) developing typically performed two trials of each task up to 2 minutes per trial using standardized procedures. A total of 482 children were also tested on a compliant surface.

Results: Descriptive statistics were calculated by age, height, weight, task, and floor surface. Two-way ANOVA showed no significant effects (p > 0.05) of sex on standing times; however, age was significant for all standing tasks. Repeated-measure ANOVA and Tukey post hoc tests identified significant effects (p < 0.05) of age and floor surface on standing times. SU, SEC, and SFT times increased up to 8 years, with most children achieving the 2 minute maximum by age 8. TS and SLS times improved up through 13 years, with wide variations in performance noted in children 8 years and older.

Conclusions: Contemporary normative performance values are provided for five common standing tasks on firm and compliant surfaces by age in one-year increments.

{"title":"Contemporary Normative Values for Five Common Static Standing Tasks on Firm and Compliant Floor Surfaces in Children Two to Thirteen Years.","authors":"Nancy S Darr, Mary Rose Franjoine, Cathey Norton, Brenda L Young","doi":"10.3390/children12010035","DOIUrl":"10.3390/children12010035","url":null,"abstract":"<p><strong>Background/objectives: </strong>Static upright tasks, including standing unsupported (SU), eyes closed (SEC), feet together (SFT), tandem (TS), and single limb (SLS), are routinely examined in children and are included in many norm-referenced measures. Existing normative values for these standing tasks may not apply to contemporary children and have not been established across wide age ranges. The primary purpose of this study was to investigate developmental trajectories of and relationships between four static standing positions (SPs [SU, SFT, TS, SLS]) in children aged 2 through 13 years who are developing typically. The effects of altered sensory input, including floor surface (firm and compliant) and vision (eyes open [SU] and eyes closed [SEC]), as well as influences of sex, height, weight, and BMI on static standing were also examined.</p><p><strong>Methods: </strong>Children (<i>n</i> = 807) developing typically performed two trials of each task up to 2 minutes per trial using standardized procedures. A total of 482 children were also tested on a compliant surface.</p><p><strong>Results: </strong>Descriptive statistics were calculated by age, height, weight, task, and floor surface. Two-way ANOVA showed no significant effects (<i>p</i> > 0.05) of sex on standing times; however, age was significant for all standing tasks. Repeated-measure ANOVA and Tukey post hoc tests identified significant effects (<i>p</i> < 0.05) of age and floor surface on standing times. SU, SEC, and SFT times increased up to 8 years, with most children achieving the 2 minute maximum by age 8. TS and SLS times improved up through 13 years, with wide variations in performance noted in children 8 years and older.</p><p><strong>Conclusions: </strong>Contemporary normative performance values are provided for five common standing tasks on firm and compliant surfaces by age in one-year increments.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042212","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}
引用次数: 0
Cerebral Ultrasound at Term-Equivalent Age: Correlations with Neuro-Motor Outcomes at 12-24 Months Corrected Age.
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-28 DOI: 10.3390/children12010030
Adrian Ioan Toma, Vlad Dima, Lidia Rusu, Alexandra Floriana Nemeș, Bogdan Florin Gonț, Alexandra Arghirescu, Andreea Necula, Alina Fieraru, Roxana Stoiciu, Larisa Andrășoaie, Loredana Mitran, Claudia Mehedințu, Al Jashi Isam

Background/Objectives: Our research aimed to assess if correlations could be found between items evaluated at the cerebral ultrasound performed at term-equivalent age (TEA) and neuro-motor outcomes evaluated at 12 and 24 months of corrected age in a group of preterm infants. Methods: The following were assessed: the Levine Index, the diagonals of the lateral ventricles, the size of the ventricular midbody, the sinocortical distance, the width of the basal ganglia, the cortical depth at the level of the cingular sulcus and the maturation of the gyral folding. The neurologic evaluation was performed at 12 and 24 months of corrected age, according to the Amiel Tison neurologic examination, and the items from the calendar of motor acquisitions were used as outcome measures of the study-gross and fine motor subsets. The comparisons between the different groups were performed using the FANOVA test, with a statistically significant association for a p < 0.05. Results: The abnormal gross motor acquisitions at 12 months were significantly associated with an increased size of the ventricular midbody (p < 0.009) and a significantly decreased diameter of the basal ganglia (p < 0.011) on the TEA cerebral ultrasound. At 24 months, a significant association was found with increased size of the ventricular midbody (>10.33 mm) (p < 0.001), a decreased diameter of the basal ganglia (<12.9 mm) (p < 0.016), a decreased cortical depth (p < 0.021) and an immature gyral maturation pattern (p < 0.001). In the case of severely abnormal fine motor outcomes, at 12 months, there were statistically significant associations with an increased size of the ventricular midbody (p < 0.001) and an immature gyral folding pattern (p < 0.0180); at 24 months, significant associations were noted with the size of ventricular midbody (p < 0.001), a decreased diameter of the basal ganglia (p < 0.016), a decreased cortical depth (p < 0.021) and an immature gyration folding (p < 0.001). Conclusions: The abnormal gross and fine motor outcome in former premature infants at 12-24 months corrected age is significantly associated with abnormal findings in the head ultrasound examination performed at TEA reflecting both white matter (increased midbody distance) and grey matter (decreased diameter of the basal ganglia, decreased cortical depth and an immature gyration pattern) involvement.

{"title":"Cerebral Ultrasound at Term-Equivalent Age: Correlations with Neuro-Motor Outcomes at 12-24 Months Corrected Age.","authors":"Adrian Ioan Toma, Vlad Dima, Lidia Rusu, Alexandra Floriana Nemeș, Bogdan Florin Gonț, Alexandra Arghirescu, Andreea Necula, Alina Fieraru, Roxana Stoiciu, Larisa Andrășoaie, Loredana Mitran, Claudia Mehedințu, Al Jashi Isam","doi":"10.3390/children12010030","DOIUrl":"10.3390/children12010030","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Our research aimed to assess if correlations could be found between items evaluated at the cerebral ultrasound performed at term-equivalent age (TEA) and neuro-motor outcomes evaluated at 12 and 24 months of corrected age in a group of preterm infants. <b>Methods:</b> The following were assessed: the Levine Index, the diagonals of the lateral ventricles, the size of the ventricular midbody, the sinocortical distance, the width of the basal ganglia, the cortical depth at the level of the cingular sulcus and the maturation of the gyral folding. The neurologic evaluation was performed at 12 and 24 months of corrected age, according to the Amiel Tison neurologic examination, and the items from the calendar of motor acquisitions were used as outcome measures of the study-gross and fine motor subsets. The comparisons between the different groups were performed using the FANOVA test, with a statistically significant association for a <i>p</i> < 0.05. <b>Results:</b> The abnormal gross motor acquisitions at 12 months were significantly associated with an increased size of the ventricular midbody (<i>p</i> < 0.009) and a significantly decreased diameter of the basal ganglia (<i>p</i> < 0.011) on the TEA cerebral ultrasound. At 24 months, a significant association was found with increased size of the ventricular midbody (>10.33 mm) (<i>p</i> < 0.001), a decreased diameter of the basal ganglia (<12.9 mm) (<i>p</i> < 0.016), a decreased cortical depth (<i>p</i> < 0.021) and an immature gyral maturation pattern (<i>p</i> < 0.001). In the case of severely abnormal fine motor outcomes, at 12 months, there were statistically significant associations with an increased size of the ventricular midbody (<i>p</i> < 0.001) and an immature gyral folding pattern (<i>p</i> < 0.0180); at 24 months, significant associations were noted with the size of ventricular midbody (<i>p</i> < 0.001), a decreased diameter of the basal ganglia (<i>p</i> < 0.016), a decreased cortical depth (<i>p</i> < 0.021) and an immature gyration folding (<i>p</i> < 0.001). <b>Conclusions:</b> The abnormal gross and fine motor outcome in former premature infants at 12-24 months corrected age is significantly associated with abnormal findings in the head ultrasound examination performed at TEA reflecting both white matter (increased midbody distance) and grey matter (decreased diameter of the basal ganglia, decreased cortical depth and an immature gyration pattern) involvement.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042188","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}
引用次数: 0
Should We Adopt Increased Dilutions for Indirect Immunofluorescence in Pediatric Anti-Centromere Antibody Testing? Insights from a Three-Year Retrospective Study. 在儿科抗心磷脂抗体检测中,我们是否应该采用加大稀释度的间接免疫荧光法?三年回顾性研究的启示。
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-28 DOI: 10.3390/children12010036
Mehmet Soylu, Raziye Burcu Taşkın, Gülçin Aytaç, Güzide Aksu, Seyfi Durmaz, Miray Karakoyun, Şaziye Rüçhan Sertöz

Background/objectives: Systemic autoimmune rheumatic diseases (SARDs) pose diagnostic challenges, particularly in pediatric populations, due to their diverse presentations and overlapping symptoms. This study aimed to evaluate the diagnostic concordance between indirect immunofluorescence (IIF) at different dilution levels (1/80 and 1/640) and immunoblot findings for anti-centromere antibody (ACA) positivity. Additionally, the clinical significance of ACA positivity and its association with SARDs in pediatric patients was assessed.

Methods: This retrospective, cross-sectional study included 58 pediatric patients evaluated for anti-nuclear antibody (ANA) testing at Ege University Hospital from 2019 to 2021. IIF was performed using HEp-20-10 cells and immunoblot testing was conducted to assess CENP-B reactivity. Statistical analyses included chi-square tests, correspondence analysis, and regression modeling to explore the relationship between IIF titers, immunoblot findings, and SARD diagnoses.

Results: Among the patients, 62.1% were diagnosed with SARD. Higher IIF titers (≥1/640) were strongly associated with CENP-B 3+ immunoblot positivity, while lower titers (1/80 and 1/320) correlated with CENP-B 1+. Patients with IIF positivity at 1/80 were 15.89 times more likely to have SARD (p < 0.001). Correspondence analysis revealed significant associations between IIF dilution levels and immunoblot reactivity (χ2 = 37.574, p < 0.000). Gender and age were not significant predictors of SARD positivity.

Conclusions: This study highlights the diagnostic value of higher IIF dilution levels (≥1/640) in improving ACA detection and SARD diagnosis in pediatric patients. Incorporating complementary diagnostic tools, such as immunoblot testing, can enhance diagnostic accuracy. These findings support adopting higher IIF cutoff levels in clinical practice for pediatric populations.

{"title":"Should We Adopt Increased Dilutions for Indirect Immunofluorescence in Pediatric Anti-Centromere Antibody Testing? Insights from a Three-Year Retrospective Study.","authors":"Mehmet Soylu, Raziye Burcu Taşkın, Gülçin Aytaç, Güzide Aksu, Seyfi Durmaz, Miray Karakoyun, Şaziye Rüçhan Sertöz","doi":"10.3390/children12010036","DOIUrl":"10.3390/children12010036","url":null,"abstract":"<p><strong>Background/objectives: </strong>Systemic autoimmune rheumatic diseases (SARDs) pose diagnostic challenges, particularly in pediatric populations, due to their diverse presentations and overlapping symptoms. This study aimed to evaluate the diagnostic concordance between indirect immunofluorescence (IIF) at different dilution levels (1/80 and 1/640) and immunoblot findings for anti-centromere antibody (ACA) positivity. Additionally, the clinical significance of ACA positivity and its association with SARDs in pediatric patients was assessed.</p><p><strong>Methods: </strong>This retrospective, cross-sectional study included 58 pediatric patients evaluated for anti-nuclear antibody (ANA) testing at Ege University Hospital from 2019 to 2021. IIF was performed using HEp-20-10 cells and immunoblot testing was conducted to assess CENP-B reactivity. Statistical analyses included chi-square tests, correspondence analysis, and regression modeling to explore the relationship between IIF titers, immunoblot findings, and SARD diagnoses.</p><p><strong>Results: </strong>Among the patients, 62.1% were diagnosed with SARD. Higher IIF titers (≥1/640) were strongly associated with CENP-B 3+ immunoblot positivity, while lower titers (1/80 and 1/320) correlated with CENP-B 1+. Patients with IIF positivity at 1/80 were 15.89 times more likely to have SARD (<i>p</i> < 0.001). Correspondence analysis revealed significant associations between IIF dilution levels and immunoblot reactivity (χ<sup>2</sup> = 37.574, <i>p</i> < 0.000). Gender and age were not significant predictors of SARD positivity.</p><p><strong>Conclusions: </strong>This study highlights the diagnostic value of higher IIF dilution levels (≥1/640) in improving ACA detection and SARD diagnosis in pediatric patients. Incorporating complementary diagnostic tools, such as immunoblot testing, can enhance diagnostic accuracy. These findings support adopting higher IIF cutoff levels in clinical practice for pediatric populations.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143041916","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}
引用次数: 0
Acute Neurotoxicity in Children Treated for Acute Lymphoblastic Leukemia and Lymphoblastic Lymphoma: A 10-Year Single-Centre Experience.
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-28 DOI: 10.3390/children12010031
Izabela Kranjčec, Nada Rajačić, Tamara Janjić, Monika Kukuruzović, Filip Jadrijević-Cvrlje, Maja Pavlović, Jelena Roganović

Background: Recent advances in childhood acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LL) management provide higher survival rates at the cost of increased toxicities. Acute neurotoxicity affects up to 10% of patients, requiring rapid recognition and treatment. Methods: A retrospective observational study was performed to determine the frequency, clinical manifestations, radiological characteristics, treatment options and outcome of acute neurological adverse events in pediatric patients with lymphoid malignancies at the Department of Oncology and Hematology, Children's Hospital Zagreb, Croatia. Results: A total of 56 patients (48 ALL and 8 LL, male/female ratio 1:1, average age 5.4 years) were treated mainly according to the ALL-IC BFM 2009 protocol. The B-immunophenotype was the most frequent (85.7%). Most patients were stratified to the intermediate risk group (39.3%), and two were initially diagnosed with central nervous system infiltration. Acute neurotoxic events were registered in 11 patients (19.6%), most commonly in the 6-10-year age group (66.7%), predominately in females (72.7%) and high-risk group (54.5%). The most frequent clinical presentation was seizures (83.3%), with status epilepticus in four cases. We detected electroencephalogram (EEG) irregularities in almost all patients and various morphological changes in the brain magnetic resonance imaging (MRI), most often consistent with posterior reversible encephalopathy syndrome and leukoencephalopathy. Approximately half the patients received prolonged antiepileptic therapy. No apparent residual neurologic manifestations have been observed. Conclusions: Acute neurotoxicity is a rather frequent treatment-related adverse event, associated with high-risk disease. Early recognition and timely management are essential for rapid recovery and optimal outcomes.

背景:儿童急性淋巴细胞白血病(ALL)和淋巴细胞淋巴瘤(LL)治疗的最新进展提高了存活率,但代价是毒性增加。多达 10% 的患者会出现急性神经毒性,需要快速识别和治疗。研究方法克罗地亚萨格勒布儿童医院肿瘤与血液学部开展了一项回顾性观察研究,以确定淋巴恶性肿瘤儿科患者急性神经系统不良事件的发生频率、临床表现、放射学特征、治疗方案和结果。结果:共有56名患者(48名ALL患者和8名LL患者,男女比例为1:1,平均年龄为5.4岁)主要按照ALL-IC BFM 2009方案接受治疗。B免疫表型的患者最多(85.7%)。大多数患者被分层为中危组(39.3%),其中两名患者被初步诊断为中枢神经系统浸润。11名患者(19.6%)发生了急性神经中毒事件,最常见于6-10岁年龄组(66.7%),主要是女性(72.7%)和高危组(54.5%)。最常见的临床表现是癫痫发作(83.3%),其中 4 例出现癫痫状态。我们发现几乎所有患者的脑电图(EEG)都不规则,脑磁共振成像(MRI)也有各种形态学改变,最常见的是后可逆性脑病综合征和白质脑病。约半数患者接受了长期抗癫痫治疗。没有观察到明显的残余神经系统表现。结论急性神经毒性是一种相当常见的治疗相关不良事件,与高风险疾病相关。早期识别和及时处理对于快速康复和获得最佳疗效至关重要。
{"title":"Acute Neurotoxicity in Children Treated for Acute Lymphoblastic Leukemia and Lymphoblastic Lymphoma: A 10-Year Single-Centre Experience.","authors":"Izabela Kranjčec, Nada Rajačić, Tamara Janjić, Monika Kukuruzović, Filip Jadrijević-Cvrlje, Maja Pavlović, Jelena Roganović","doi":"10.3390/children12010031","DOIUrl":"10.3390/children12010031","url":null,"abstract":"<p><p><b>Background</b>: Recent advances in childhood acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LL) management provide higher survival rates at the cost of increased toxicities. Acute neurotoxicity affects up to 10% of patients, requiring rapid recognition and treatment. <b>Methods</b>: A retrospective observational study was performed to determine the frequency, clinical manifestations, radiological characteristics, treatment options and outcome of acute neurological adverse events in pediatric patients with lymphoid malignancies at the Department of Oncology and Hematology, Children's Hospital Zagreb, Croatia. <b>Results</b>: A total of 56 patients (48 ALL and 8 LL, male/female ratio 1:1, average age 5.4 years) were treated mainly according to the ALL-IC BFM 2009 protocol. The B-immunophenotype was the most frequent (85.7%). Most patients were stratified to the intermediate risk group (39.3%), and two were initially diagnosed with central nervous system infiltration. Acute neurotoxic events were registered in 11 patients (19.6%), most commonly in the 6-10-year age group (66.7%), predominately in females (72.7%) and high-risk group (54.5%). The most frequent clinical presentation was seizures (83.3%), with status epilepticus in four cases. We detected electroencephalogram (EEG) irregularities in almost all patients and various morphological changes in the brain magnetic resonance imaging (MRI), most often consistent with posterior reversible encephalopathy syndrome and leukoencephalopathy. Approximately half the patients received prolonged antiepileptic therapy. No apparent residual neurologic manifestations have been observed. <b>Conclusions:</b> Acute neurotoxicity is a rather frequent treatment-related adverse event, associated with high-risk disease. Early recognition and timely management are essential for rapid recovery and optimal outcomes.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042555","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}
引用次数: 0
Pediatric Intensive Care Provider Attitudes About Children with Medical Complexity and Neurologic Impairment: A Qualitative Study.
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-28 DOI: 10.3390/children12010034
Elizabeth J Bleed, Leonardo Barrera, Mickayla Jones, Seema K Shah, Megan Crowley-Matoka, Carolyn C Foster

(1) Background: Children with medical complexity (CMC) and neurologic impairment (NI) are a growing population in pediatric intensive care units (PICUs). (2) Objective: Our aim was to explore and describe the experiences and beliefs of PICU providers caring for CMC with NI. (3) Methods: A qualitative interview-based study was conducted. Participants were 20 providers (12 attendings and 8 nurse practitioners) who met inclusion criteria of being a faculty, fellow, or advanced practice provider who worked in a PICU; residents were excluded. Participants were recruited via purposive and snowball sampling until information power was reached, and came from seven PICUs across six states, with 10 participants from the authors' home institution and 10 from external PICUs. Data were collected via recorded videoconference interviews, which were transcribed. Analysis was conducted and relevant themes were identified using the analytic technique of thematic analysis. Rigor was assured by using two coders. (4) Results: Four main themes were identified: (i) providers view CMC with NI as a distinct population of growing importance; (ii) CMC with NI have care needs that challenge traditional perceptions of PICU practice; (iii) PICU providers expressed ambivalence towards caring for CMC with NI; and (iv) some PICU providers have developed adaptive strategies. (5) Conclusions: This population challenges the typical notion of what pediatric critical care represents. Providers display ambivalence about caring for these patients but can develop strategies to make this work meaningful. Understanding PICU clinicians' views about CMC with NI can provide insights for improved patient care and reduced provider burnout as the field adapts to this population.

{"title":"Pediatric Intensive Care Provider Attitudes About Children with Medical Complexity and Neurologic Impairment: A Qualitative Study.","authors":"Elizabeth J Bleed, Leonardo Barrera, Mickayla Jones, Seema K Shah, Megan Crowley-Matoka, Carolyn C Foster","doi":"10.3390/children12010034","DOIUrl":"10.3390/children12010034","url":null,"abstract":"<p><p>(1) Background: Children with medical complexity (CMC) and neurologic impairment (NI) are a growing population in pediatric intensive care units (PICUs). (2) Objective: Our aim was to explore and describe the experiences and beliefs of PICU providers caring for CMC with NI. (3) Methods: A qualitative interview-based study was conducted. Participants were 20 providers (12 attendings and 8 nurse practitioners) who met inclusion criteria of being a faculty, fellow, or advanced practice provider who worked in a PICU; residents were excluded. Participants were recruited via purposive and snowball sampling until information power was reached, and came from seven PICUs across six states, with 10 participants from the authors' home institution and 10 from external PICUs. Data were collected via recorded videoconference interviews, which were transcribed. Analysis was conducted and relevant themes were identified using the analytic technique of thematic analysis. Rigor was assured by using two coders. (4) Results: Four main themes were identified: (i) providers view CMC with NI as a distinct population of growing importance; (ii) CMC with NI have care needs that challenge traditional perceptions of PICU practice; (iii) PICU providers expressed ambivalence towards caring for CMC with NI; and (iv) some PICU providers have developed adaptive strategies. (5) Conclusions: This population challenges the typical notion of what pediatric critical care represents. Providers display ambivalence about caring for these patients but can develop strategies to make this work meaningful. Understanding PICU clinicians' views about CMC with NI can provide insights for improved patient care and reduced provider burnout as the field adapts to this population.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143041434","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}
引用次数: 0
Neurodevelopmental Disorders and Connective Tissue-Related Symptoms: An Exploratory Case-Control Study in Children.
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-12-28 DOI: 10.3390/children12010033
Leonardo Zoccante, Gianfranco Di Gennaro, Erika Rigotti, Marco Luigi Ciceri, Andrea Sbarbati, Marco Zaffanello

Background/Objectives: Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS) are neurodevelopmental disorders (NDDs) with overlapping symptoms, suggesting a partially shared genetic origin. This study investigates the prevalence of connective tissue-related conditions in individuals with ASD, ADHD, or TS. Methods: A questionnaire was administered to families of 120 individuals with ASD, ADHD, or TS, collecting sociodemographic data and examining 10 types of disorders affecting various organs and systems. Statistical analyses were performed using STATA 16.0, with the significance level set at 5%. Results: Among the 120 patients, 48 had ASD, 36 had ADHD, and 36 had TS. Flat feet were significantly more common in individuals with ASD (52.1%; OR 7.20; p < 0.001), ADHD (52.8%; OR 6.73; p = 0.001), and TS (38.9%; OR 3.70; p = 0.034) compared to controls (13.6%). Hypersensitivity was more frequent in individuals with ASD (56.3%; OR 5.90; p = 0.001), ADHD (50.0%; OR 4.11; p = 0.011), and TS (58.3%; OR 5.35; p = 0.003) compared to controls (18.2%). Myopia and ptosis were more common in ADHD (30.6%). There was a possible trend towards orthodontic device use in TS (OR 3.20; p = 0.076). Flat feet and hypersensitivity were also common in fathers (31.0% and 36.4%, respectively), mothers (31.0% and 15.2%), and patients (43.8% and 55%). Conclusions: The findings of this study highlight the significant associations between ASD, ADHD, and TS and specific physical symptoms, such as flat feet, sensory hypersensitivity, and other connective tissue-related manifestations. The familial prevalence of these symptoms suggests a potential genetic underpinning, further supporting the hypothesis of shared aetiological pathways. These insights underscore the need for interdisciplinary research to explore the mechanisms linking neurodevelopmental and connective tissue disorders, aiming to improve diagnosis and management strategies.

背景/目的:自闭症谱系障碍(ASD)、注意缺陷多动障碍(ADHD)和抽动秽语综合征(TS)是症状重叠的神经发育障碍(NDD),这表明它们有部分共同的遗传起源。本研究调查了结缔组织相关疾病在 ASD、ADHD 或 TS 患者中的患病率。研究方法对 120 名 ASD、ADHD 或 TS 患者的家庭进行了问卷调查,收集了社会人口学数据,并检查了影响不同器官和系统的 10 种疾病。使用 STATA 16.0 进行统计分析,显著性水平设定为 5%。结果在 120 名患者中,48 人患有 ASD,36 人患有 ADHD,36 人患有 TS。与对照组(13.6%)相比,扁平足在 ASD(52.1%;OR 7.20;p < 0.001)、ADHD(52.8%;OR 6.73;p = 0.001)和 TS(38.9%;OR 3.70;p = 0.034)患者中更为常见。与对照组(18.2%)相比,患有 ASD(56.3%;OR 5.90;p = 0.001)、ADHD(50.0%;OR 4.11;p = 0.011)和 TS(58.3%;OR 5.35;p = 0.003)的人更容易出现过度敏感。近视和上睑下垂在多动症(30.6%)中更为常见。多动症患者可能有使用正畸装置的趋势(OR 3.20;p = 0.076)。扁平足和过敏症在父亲(分别为 31.0% 和 36.4%)、母亲(分别为 31.0% 和 15.2%)和患者(分别为 43.8% 和 55%)中也很常见。结论本研究的结果突显了 ASD、ADHD 和 TS 与扁平足、感觉过敏和其他结缔组织相关表现等特定躯体症状之间的显著关联。这些症状的家族发病率表明可能存在遗传基础,进一步支持了共同病因途径的假设。这些见解强调了跨学科研究的必要性,以探索神经发育性疾病和结缔组织疾病的关联机制,从而改进诊断和管理策略。
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Children-Basel
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