Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani
Aim: Medical gases, including nitric oxide, carbon monoxide, hydrogen sulphide and molecular hydrogen, have emerged as key regulators of redox balance and cellular signalling. This mini-review examines their relevance to paediatric endocrine and neurodevelopmental pathways, domains particularly sensitive to oxidative and inflammatory disturbances.
Methods: We surveyed preclinical and clinical studies published between 2007 and 2025 on gas-mediated regulation of metabolic-redox homeostasis, bone biology, pubertal control and neurodevelopment. Additional attention was given to conditions marked by oxidative stress, such as Klinefelter and Turner syndromes.
Results: Evidence shows that gasotransmitters modulate synaptic plasticity, neurotransmission and neuroinflammation, influencing disorders such as autism spectrum disorder, attention-deficit/hyperactivity disorder and outcomes after perinatal hypoxia. They also participate in metabolic regulation, osteogenesis, osteoclast activity and hypothalamic control of puberty. These mechanistic insights highlight the emerging translational potential of gas-mediated pathways in paediatric health.
Conclusion: Although paediatric clinical applications remain limited, advances in omics-based profiling, mechanistic studies and biomaterial-supported gas delivery are rapidly expanding the therapeutic horizon. Integrating gasotransmitter biology into paediatric endocrinology and neurodevelopment may support future diagnostic, preventive and targeted therapeutic strategies.
{"title":"Medical Gases as Emerging Regulators of Paediatric Endocrine and Neurodevelopmental Pathways: A Mini-Review.","authors":"Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani","doi":"10.1111/apa.70429","DOIUrl":"https://doi.org/10.1111/apa.70429","url":null,"abstract":"<p><strong>Aim: </strong>Medical gases, including nitric oxide, carbon monoxide, hydrogen sulphide and molecular hydrogen, have emerged as key regulators of redox balance and cellular signalling. This mini-review examines their relevance to paediatric endocrine and neurodevelopmental pathways, domains particularly sensitive to oxidative and inflammatory disturbances.</p><p><strong>Methods: </strong>We surveyed preclinical and clinical studies published between 2007 and 2025 on gas-mediated regulation of metabolic-redox homeostasis, bone biology, pubertal control and neurodevelopment. Additional attention was given to conditions marked by oxidative stress, such as Klinefelter and Turner syndromes.</p><p><strong>Results: </strong>Evidence shows that gasotransmitters modulate synaptic plasticity, neurotransmission and neuroinflammation, influencing disorders such as autism spectrum disorder, attention-deficit/hyperactivity disorder and outcomes after perinatal hypoxia. They also participate in metabolic regulation, osteogenesis, osteoclast activity and hypothalamic control of puberty. These mechanistic insights highlight the emerging translational potential of gas-mediated pathways in paediatric health.</p><p><strong>Conclusion: </strong>Although paediatric clinical applications remain limited, advances in omics-based profiling, mechanistic studies and biomaterial-supported gas delivery are rapidly expanding the therapeutic horizon. Integrating gasotransmitter biology into paediatric endocrinology and neurodevelopment may support future diagnostic, preventive and targeted therapeutic strategies.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145893403","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":"Survey Showed That Organisation of Paediatric Critical Care Transport Differed Between 16 European Countries.","authors":"Guillaume Mortamet, Ariana Voskanyan, Nadine Mand","doi":"10.1111/apa.70440","DOIUrl":"https://doi.org/10.1111/apa.70440","url":null,"abstract":"","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145893423","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}
Martina Panicola, Giulia Cereghetti, Carlo Agostoni, Ilaria Alberti, Emilia Vassilopoulou, Silvia Bettocchi, Alice A Bruni, Mario G Bianchetti, Antonio Corsello, Gregorio P Milani
Aim: This study investigated whether family composition and other household factors are associated with adherence to vitamin D supplementation during infancy.
Methods: A cross-sectional survey was conducted between March 21 and April 30, 2023, among caregivers of infants aged 4 weeks to 12 months at the Ca' Granda Hospital, Milan, Italy. The survey investigated demographic data, health status, daily vitamin D3 administration frequency, and family characteristics. Multiple logistic regression was used to identify factors associated with poor adherence.
Results: A total of 241 caregivers completed the survey. Overall, 85% of infants received vitamin D supplements at least four times per week. Good adherence was more frequent in families with one child (91%) compared with those with two or more children (78%). In multivariable analysis, the presence of siblings was the only factor significantly associated with poor adherence (odds ratio 2.72, 95% confidence interval 1.25-5.92). No associations were found with caregiver education, infant age, chronic disease, intercurrent illness, or time spent outdoors.
Conclusion: In this cohort, adherence to vitamin D prophylaxis was significantly lower in families with more than one child. Awareness of this association could inform counselling strategies and the design of interventions to sustain adherence.
{"title":"Lower Adherence to Vitamin D Prophylaxis in Families With Multiple Children.","authors":"Martina Panicola, Giulia Cereghetti, Carlo Agostoni, Ilaria Alberti, Emilia Vassilopoulou, Silvia Bettocchi, Alice A Bruni, Mario G Bianchetti, Antonio Corsello, Gregorio P Milani","doi":"10.1111/apa.70435","DOIUrl":"https://doi.org/10.1111/apa.70435","url":null,"abstract":"<p><strong>Aim: </strong>This study investigated whether family composition and other household factors are associated with adherence to vitamin D supplementation during infancy.</p><p><strong>Methods: </strong>A cross-sectional survey was conducted between March 21 and April 30, 2023, among caregivers of infants aged 4 weeks to 12 months at the Ca' Granda Hospital, Milan, Italy. The survey investigated demographic data, health status, daily vitamin D<sub>3</sub> administration frequency, and family characteristics. Multiple logistic regression was used to identify factors associated with poor adherence.</p><p><strong>Results: </strong>A total of 241 caregivers completed the survey. Overall, 85% of infants received vitamin D supplements at least four times per week. Good adherence was more frequent in families with one child (91%) compared with those with two or more children (78%). In multivariable analysis, the presence of siblings was the only factor significantly associated with poor adherence (odds ratio 2.72, 95% confidence interval 1.25-5.92). No associations were found with caregiver education, infant age, chronic disease, intercurrent illness, or time spent outdoors.</p><p><strong>Conclusion: </strong>In this cohort, adherence to vitamin D prophylaxis was significantly lower in families with more than one child. Awareness of this association could inform counselling strategies and the design of interventions to sustain adherence.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145879448","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":"Perioperative Interventions: A Critical Omission in Delivery Mode Research on Neonatal Gene Expression","authors":"Shu Song, Xiaomei Zhu","doi":"10.1111/apa.70438","DOIUrl":"10.1111/apa.70438","url":null,"abstract":"","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":"115 3","pages":"746-747"},"PeriodicalIF":2.1,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145866616","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}
Emelie Widhe, Mette Hambraeus, Erik Hedström, Anna Börjesson, Martin Salö
Aim: Urinary tract infection (UTI) is the most common and significant complication after voiding cystourethrography (VCUG) but the reported incidence in children varies highly. Therefore, the aim of this study was to evaluate the rate and possible risk factors for UTIs after VCUG.
Method: A multicentre retrospective cohort study of children < 15 years of age undergoing VCUG between 2017 and 2022 was conducted. Lower UTI (cystitis) and febrile UTI (pyelonephritis) within 14 days of VCUG were registered, defined by clinical assessment and a positive urinary culture.
Results: One thousand and one examinations were included (median age 1 year, 52% boys). Previous febrile UTI was present in 58%. Pathology was found in 47% of children, of which 83% had vesicoureteral reflux (VUR). Post VCUG UTI occurred in 34 (3.4%) children within 14 days, of which 60% were within 7 days and 88% were febrile. Only dilating VUR increased the risk for post VCUG UTI (adjusted odds ratio 5.4 [2.6-8.7] p < 0.001).
Conclusion: There was a low rate of post VCUG UTIs. Since children with dilated VUR are at risk for chronic kidney injury, targeted interventions after VCUG could possibly lower additional UTIs in this group.
{"title":"Low Risk for Urinary Tract Infection After Voiding Cystography in Children Without Dilated Vesikoureteral Reflux.","authors":"Emelie Widhe, Mette Hambraeus, Erik Hedström, Anna Börjesson, Martin Salö","doi":"10.1111/apa.70437","DOIUrl":"https://doi.org/10.1111/apa.70437","url":null,"abstract":"<p><strong>Aim: </strong>Urinary tract infection (UTI) is the most common and significant complication after voiding cystourethrography (VCUG) but the reported incidence in children varies highly. Therefore, the aim of this study was to evaluate the rate and possible risk factors for UTIs after VCUG.</p><p><strong>Method: </strong>A multicentre retrospective cohort study of children < 15 years of age undergoing VCUG between 2017 and 2022 was conducted. Lower UTI (cystitis) and febrile UTI (pyelonephritis) within 14 days of VCUG were registered, defined by clinical assessment and a positive urinary culture.</p><p><strong>Results: </strong>One thousand and one examinations were included (median age 1 year, 52% boys). Previous febrile UTI was present in 58%. Pathology was found in 47% of children, of which 83% had vesicoureteral reflux (VUR). Post VCUG UTI occurred in 34 (3.4%) children within 14 days, of which 60% were within 7 days and 88% were febrile. Only dilating VUR increased the risk for post VCUG UTI (adjusted odds ratio 5.4 [2.6-8.7] p < 0.001).</p><p><strong>Conclusion: </strong>There was a low rate of post VCUG UTIs. Since children with dilated VUR are at risk for chronic kidney injury, targeted interventions after VCUG could possibly lower additional UTIs in this group.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859413","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}
Catherine Korman, Doha Elhaoua, Sarah Blain, Thomas Li, Mariam Mohamed, Alessandro David, Colette Deslandres, Ugur Halac, Martha Dirks, Kelly Grzywacz, Michel Lallier, Fernando Alvarez, Prévost Jantchou
Aim: Limited Canadian data on paediatric acute pancreatitis exist. A meta-analysis of 48 studies reported equal prevalence of acute pancreatitis among various aetiologies, with rates of severe acute pancreatitis at 13.7% in North America. The 2018 NASPGHAN Pancreas Committee position statement highlighted the need for evidence on fluid management and early enteral nutrition. We aimed to evaluate the epidemiology and management of acute pancreatitis at a tertiary care centre.
Methods: Data were extracted from a hospital database for children diagnosed with acute pancreatitis from January 2014 to December 2021. Descriptive analyses were conducted using SAS software.
Results: Two hundred eight patients (49.0% female) developed acute pancreatitis. The median age was 12.5 years. The most common aetiologies were medication (20.2%), biliary disease (16.4%) and infections (15.4%). The prevalence of moderately severe acute pancreatitis was 10.6%; no patients developed severe acute pancreatitis. Nearly all patients (95.7%) received intravenous fluids. Dietary management during the first 24 h included enteral nutrition (8.2%), oral feeding (32.2%) and fasting (49.5%).
Conclusions: Paediatric acute pancreatitis has diverse aetiologie, and its management generally aligns with NASPGHAN guidelines. Future studies should focus on the identification of predictive factors of severity in the paediatric population based on recent severity classifications.
{"title":"Phenotype, Management, and Outcomes in Paediatric Acute Pancreatitis: A Real-Life Cross-Sectional Study.","authors":"Catherine Korman, Doha Elhaoua, Sarah Blain, Thomas Li, Mariam Mohamed, Alessandro David, Colette Deslandres, Ugur Halac, Martha Dirks, Kelly Grzywacz, Michel Lallier, Fernando Alvarez, Prévost Jantchou","doi":"10.1111/apa.70431","DOIUrl":"https://doi.org/10.1111/apa.70431","url":null,"abstract":"<p><strong>Aim: </strong>Limited Canadian data on paediatric acute pancreatitis exist. A meta-analysis of 48 studies reported equal prevalence of acute pancreatitis among various aetiologies, with rates of severe acute pancreatitis at 13.7% in North America. The 2018 NASPGHAN Pancreas Committee position statement highlighted the need for evidence on fluid management and early enteral nutrition. We aimed to evaluate the epidemiology and management of acute pancreatitis at a tertiary care centre.</p><p><strong>Methods: </strong>Data were extracted from a hospital database for children diagnosed with acute pancreatitis from January 2014 to December 2021. Descriptive analyses were conducted using SAS software.</p><p><strong>Results: </strong>Two hundred eight patients (49.0% female) developed acute pancreatitis. The median age was 12.5 years. The most common aetiologies were medication (20.2%), biliary disease (16.4%) and infections (15.4%). The prevalence of moderately severe acute pancreatitis was 10.6%; no patients developed severe acute pancreatitis. Nearly all patients (95.7%) received intravenous fluids. Dietary management during the first 24 h included enteral nutrition (8.2%), oral feeding (32.2%) and fasting (49.5%).</p><p><strong>Conclusions: </strong>Paediatric acute pancreatitis has diverse aetiologie, and its management generally aligns with NASPGHAN guidelines. Future studies should focus on the identification of predictive factors of severity in the paediatric population based on recent severity classifications.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859039","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}
Chau Hoang Minh Le, Hoang Thi Tran, Quang Kim Huynh, Surasith Chaithongwongwatthana
Aim: To assess the effect of antenatal dexamethasone on reducing the need for respiratory support in late preterm infants.
Methods: The study was an open-label randomised controlled trial. Participants included 294 pregnant women at risk of late preterm delivery, admitted to Da Nang Hospital for Women and Children, Vietnam. Women in the intervention group received antenatal dexamethasone, compared with standard care for the control group. Statistical analysis was conducted using STATA 18 with an intention-to-treat approach. Comparisons were performed using the chi-squared test or Fisher's exact test for categorical data and the unpaired t-test or Wilcoxon rank-sum test for continuous data.
Results: Infants in the control group required respiratory support after birth more frequently than those in the dexamethasone group (24.5% vs. 15%, p = 0.04). The neonatal unit admission rate was significantly higher in the control group (p = 0.01), with respiratory problems accounting for the most common reason for admission. Regarding morbidities, jaundice requiring phototherapy was significantly higher in the control group.
Conclusion: Antenatal dexamethasone significantly reduced the need for respiratory support after birth and neonatal unit admission. Dexamethasone administration was not associated with increased maternal postnatal infection or neonatal hypoglycaemia.
{"title":"Impact of Antenatal Dexamethasone on Respiratory Outcomes in Late Preterm Infants in a Vietnamese Tertiary Hospital: A Randomised Controlled Trial.","authors":"Chau Hoang Minh Le, Hoang Thi Tran, Quang Kim Huynh, Surasith Chaithongwongwatthana","doi":"10.1111/apa.70417","DOIUrl":"https://doi.org/10.1111/apa.70417","url":null,"abstract":"<p><strong>Aim: </strong>To assess the effect of antenatal dexamethasone on reducing the need for respiratory support in late preterm infants.</p><p><strong>Methods: </strong>The study was an open-label randomised controlled trial. Participants included 294 pregnant women at risk of late preterm delivery, admitted to Da Nang Hospital for Women and Children, Vietnam. Women in the intervention group received antenatal dexamethasone, compared with standard care for the control group. Statistical analysis was conducted using STATA 18 with an intention-to-treat approach. Comparisons were performed using the chi-squared test or Fisher's exact test for categorical data and the unpaired t-test or Wilcoxon rank-sum test for continuous data.</p><p><strong>Results: </strong>Infants in the control group required respiratory support after birth more frequently than those in the dexamethasone group (24.5% vs. 15%, p = 0.04). The neonatal unit admission rate was significantly higher in the control group (p = 0.01), with respiratory problems accounting for the most common reason for admission. Regarding morbidities, jaundice requiring phototherapy was significantly higher in the control group.</p><p><strong>Conclusion: </strong>Antenatal dexamethasone significantly reduced the need for respiratory support after birth and neonatal unit admission. Dexamethasone administration was not associated with increased maternal postnatal infection or neonatal hypoglycaemia.</p><p><strong>Trial registration: </strong>ClinicalTrial.gov NCT05841121.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145844476","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":"Letter to Editor: Exploring the Link Between Headache, Possible Sleep Bruxism, and Self-Medication in Adolescents","authors":"Javeria Ahsan, Ahmad Furqan Anjum","doi":"10.1111/apa.70433","DOIUrl":"10.1111/apa.70433","url":null,"abstract":"","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":"115 3","pages":"744-745"},"PeriodicalIF":2.1,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145844538","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}
Tzipi Horowitz-Kraus, Volker Mall, Alice Cancer, Antonietti Alessandro, Nevena Dimitrova, Stephen E Vogel, Andrea Hahnefeld
{"title":"Research Is Needed on How Young European Children Use Digital Technology and Its Developmental Impact.","authors":"Tzipi Horowitz-Kraus, Volker Mall, Alice Cancer, Antonietti Alessandro, Nevena Dimitrova, Stephen E Vogel, Andrea Hahnefeld","doi":"10.1111/apa.70426","DOIUrl":"https://doi.org/10.1111/apa.70426","url":null,"abstract":"","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145835361","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}
Signe V Pedersen, Jesper K Sørensen, Rebecca Fabricius, Morten Dunø, Mads L Larsen, Christina E Høi-Hansen, Elsebet Østergaard
Aim: To give a comprehensive overview of genetic findings in children with cerebral palsy, including a description of subtype, comorbidities and neuroimaging, providing insight into the clinical utility of genetics.
Method: A systematic review of previous literature using Embase and Medline as databases. All studies were published between 2000 and 2022, each including at least 10 individuals with cerebral palsy.
Results: A total of 19 studies were included, comprising a total of 3707 individuals with cerebral palsy. The overall diagnostic yield was 22.2%, with the highest yield (up to 55%) in cryptogenic cerebral palsy. Variants in a total of 377 unique genes were identified, most frequently CTNNB1, SPAST and ATL1. In addition, 59 different CNVs were identified, of which 32 were in known (micro)duplication/-deletion syndromes such as 22q11.2 microdeletion/-duplication and 14q12 microdeletion. Spastic and dyskinetic cerebral palsy were the most common phenotypes among genetically diagnosed cases. Findings also included variants in genes linked to epilepsy, specific neuroimaging patterns and potentially treatable conditions.
Conclusion: These results highlight the importance of genetic evaluation for diagnostic clarification, targeted treatment, monitoring of comorbidities and genetic counseling. We recommend offering genetic testing to individuals with cryptogenic cerebral palsy to optimize management and prevention.
{"title":"Systematic Review on Genetic Variants in Children With Cerebral Palsy.","authors":"Signe V Pedersen, Jesper K Sørensen, Rebecca Fabricius, Morten Dunø, Mads L Larsen, Christina E Høi-Hansen, Elsebet Østergaard","doi":"10.1111/apa.70427","DOIUrl":"https://doi.org/10.1111/apa.70427","url":null,"abstract":"<p><strong>Aim: </strong>To give a comprehensive overview of genetic findings in children with cerebral palsy, including a description of subtype, comorbidities and neuroimaging, providing insight into the clinical utility of genetics.</p><p><strong>Method: </strong>A systematic review of previous literature using Embase and Medline as databases. All studies were published between 2000 and 2022, each including at least 10 individuals with cerebral palsy.</p><p><strong>Results: </strong>A total of 19 studies were included, comprising a total of 3707 individuals with cerebral palsy. The overall diagnostic yield was 22.2%, with the highest yield (up to 55%) in cryptogenic cerebral palsy. Variants in a total of 377 unique genes were identified, most frequently CTNNB1, SPAST and ATL1. In addition, 59 different CNVs were identified, of which 32 were in known (micro)duplication/-deletion syndromes such as 22q11.2 microdeletion/-duplication and 14q12 microdeletion. Spastic and dyskinetic cerebral palsy were the most common phenotypes among genetically diagnosed cases. Findings also included variants in genes linked to epilepsy, specific neuroimaging patterns and potentially treatable conditions.</p><p><strong>Conclusion: </strong>These results highlight the importance of genetic evaluation for diagnostic clarification, targeted treatment, monitoring of comorbidities and genetic counseling. We recommend offering genetic testing to individuals with cryptogenic cerebral palsy to optimize management and prevention.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145828966","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}