Aim: This study examined cardiorespiratory and metabolic responses to activities (supine rest, sitting, standing and walking) in children aged 6-12 years with normal weight, overweight and obesity, focusing on sex-specific differences. Overweight and obesity were categorised per World Health Organization criteria, emphasising their global health impact.
Methods: Eighty-four children were classified by weight status and assessed for heart rate (HR), breathing frequency (BF), minute ventilation (VE), oxygen consumption (VO2), carbon dioxide production (VCO2), resting energy expenditure (REE) and metabolic equivalents (METs) during each activity. Statistical analyses compared responses across weight and sex groups.
Results: HR, BF and VE increased with activity intensity in all groups. Boys with overweight and boys with obesity had significantly higher HR than boys with normal weight, reflecting greater cardiac strain. VO2 and VCO2 were elevated in children with obesity, particularly girls, indicating increased metabolic demands. Boys with overweight and boys with obesity exhibited higher VE/VO2 and VE/VCO2 ratios during low-intensity activities, reflecting reduced ventilatory efficiency.
Conclusion: Strategies targeting respiratory and metabolic efficiency, including muscle strengthening and endurance exercises, are crucial for mitigating obesity-related strain, particularly in girls. These findings highlight the need for tailored, sex-specific interventions to address obesity in children.
{"title":"Cardiorespiratory and Metabolic Responses to Daily Activities in Children: Examining Sex Differences and Weight Categories.","authors":"Narinrat Somwhong, Orawan Chareonphol, Papatsorn Ramyarangsi, Kotchakorn Jumroenketpratheep, Amornpan Ajjimaporn","doi":"10.1111/apa.70049","DOIUrl":"https://doi.org/10.1111/apa.70049","url":null,"abstract":"<p><strong>Aim: </strong>This study examined cardiorespiratory and metabolic responses to activities (supine rest, sitting, standing and walking) in children aged 6-12 years with normal weight, overweight and obesity, focusing on sex-specific differences. Overweight and obesity were categorised per World Health Organization criteria, emphasising their global health impact.</p><p><strong>Methods: </strong>Eighty-four children were classified by weight status and assessed for heart rate (HR), breathing frequency (BF), minute ventilation (VE), oxygen consumption (VO<sub>2</sub>), carbon dioxide production (VCO<sub>2</sub>), resting energy expenditure (REE) and metabolic equivalents (METs) during each activity. Statistical analyses compared responses across weight and sex groups.</p><p><strong>Results: </strong>HR, BF and VE increased with activity intensity in all groups. Boys with overweight and boys with obesity had significantly higher HR than boys with normal weight, reflecting greater cardiac strain. VO<sub>2</sub> and VCO<sub>2</sub> were elevated in children with obesity, particularly girls, indicating increased metabolic demands. Boys with overweight and boys with obesity exhibited higher VE/VO<sub>2</sub> and VE/VCO<sub>2</sub> ratios during low-intensity activities, reflecting reduced ventilatory efficiency.</p><p><strong>Conclusion: </strong>Strategies targeting respiratory and metabolic efficiency, including muscle strengthening and endurance exercises, are crucial for mitigating obesity-related strain, particularly in girls. These findings highlight the need for tailored, sex-specific interventions to address obesity in children.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143532237","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}
Rachel G Greenberg, Amii M Kress, Guojing Wu, J Wells Logan, Cindy T McEvoy, Frank Gilliland, Judy Aschner, Kecia N Carroll, Maria M Talavera-Barber, Margaret R Karagas, Maria José Rosa, Joanne Sordillo, P Brian Smith
Aim: This study examined the association between antibiotic exposure during pregnancy and the development of wheezing and cough during infancy.
Methods: We analysed data from 12 cohorts in the Environmental influences on Child Health Outcomes Cohort Consortium. Outcomes during the first 18 months after birth included the presence of wheeze or dry cough and treatment or intervention for these symptoms, including medications, emergency room visits, and hospitalisations. We used generalised estimating equations and logistic models with adjustment for inverse propensity scores for exposure to antibiotics.
Results: A total of 4721 pregnancies were included, resulting in 4779 infants. Overall, 1,701/4,721 (36%) individuals received antibiotics during pregnancy, and wheezing was reported in 1,214/4,779 (26%) infants. In adjusted analyses, prenatal antibiotics were not associated with a higher odds of wheeze (OR = 1.06; 95% CI 0.91, 1.24) or hospitalisations or emergency room visits for wheeze or dry cough. However, prenatal antibiotic exposure was associated with a higher odds of medication use for wheeze or dry cough (OR = 1.62; 95% CI 1.10, 2.38).
Conclusions: Prenatal antibiotic exposure may be associated with an increased odds of medication use for wheeze or dry cough during infancy but may not increase the risk of more severe events.
{"title":"Association Between Prenatal Antibiotic Exposure and Infant Wheeze Outcomes.","authors":"Rachel G Greenberg, Amii M Kress, Guojing Wu, J Wells Logan, Cindy T McEvoy, Frank Gilliland, Judy Aschner, Kecia N Carroll, Maria M Talavera-Barber, Margaret R Karagas, Maria José Rosa, Joanne Sordillo, P Brian Smith","doi":"10.1111/apa.70044","DOIUrl":"https://doi.org/10.1111/apa.70044","url":null,"abstract":"<p><strong>Aim: </strong>This study examined the association between antibiotic exposure during pregnancy and the development of wheezing and cough during infancy.</p><p><strong>Methods: </strong>We analysed data from 12 cohorts in the Environmental influences on Child Health Outcomes Cohort Consortium. Outcomes during the first 18 months after birth included the presence of wheeze or dry cough and treatment or intervention for these symptoms, including medications, emergency room visits, and hospitalisations. We used generalised estimating equations and logistic models with adjustment for inverse propensity scores for exposure to antibiotics.</p><p><strong>Results: </strong>A total of 4721 pregnancies were included, resulting in 4779 infants. Overall, 1,701/4,721 (36%) individuals received antibiotics during pregnancy, and wheezing was reported in 1,214/4,779 (26%) infants. In adjusted analyses, prenatal antibiotics were not associated with a higher odds of wheeze (OR = 1.06; 95% CI 0.91, 1.24) or hospitalisations or emergency room visits for wheeze or dry cough. However, prenatal antibiotic exposure was associated with a higher odds of medication use for wheeze or dry cough (OR = 1.62; 95% CI 1.10, 2.38).</p><p><strong>Conclusions: </strong>Prenatal antibiotic exposure may be associated with an increased odds of medication use for wheeze or dry cough during infancy but may not increase the risk of more severe events.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143517568","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":"Corrigendum to 'Optimal Breastfeeding Practices and Infant and Child Mortality: A Systematic Review and Meta-Analysis'.","authors":"","doi":"10.1111/apa.70043","DOIUrl":"https://doi.org/10.1111/apa.70043","url":null,"abstract":"","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143506260","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}
C Heiring, S S Hedegaard, E M Carlsen, R Kristensen, N Breindahl, C Schmidt, E T Bay, I M L Nyegaard, T B Henriksen, L Aunsholt
Aim: To compare less invasive surfactant administration (LISA) and intubation-surfactant-extubation (INSURE) in infants born before 28 weeks gestational age (GA) by the need for mechanical ventilation (MV).
Methods: LISA was introduced in 2017 in our unit without formal prior LISA-specific training as an equal alternative to INSURE. Medical records (July 2017 to July 2021) were reviewed for infants born < 28 weeks gestation treated with LISA or INSURE. The primary outcome was needing MV within 72 h, adjusted for potential confounders (including gestational age, birthweight, sex, mode of delivery and FiO2) using logistic regression. Secondary outcomes included MV duration, respiratory support duration, first-pass success rate in endotracheal tube or LISA catheter placement and neonatal morbidities.
Results: A total of 108 infants (median 26 weeks GA) were included: 51 receiving LISA, 57 receiving INSURE. LISA was associated with a lower need for MV within 72 h (aOR: 0.40, 95% CI: 0.17-0.94) and during admission (aOR: 0.199, [0.075; 0.529]), although the duration of MV and any respiratory support were similar. The first-pass success rate was high in both groups (75%). There were no differences in other secondary outcomes.
Conclusion: LISA was associated with a reduced need for MV compared to INSURE, even when implemented without prior formal training.
{"title":"Less Invasive Surfactant Administration Versus Intubate-Surfactant-Extubate: Associated With Reduced Mechanical Ventilation in Extremely Preterm Infants.","authors":"C Heiring, S S Hedegaard, E M Carlsen, R Kristensen, N Breindahl, C Schmidt, E T Bay, I M L Nyegaard, T B Henriksen, L Aunsholt","doi":"10.1111/apa.70041","DOIUrl":"https://doi.org/10.1111/apa.70041","url":null,"abstract":"<p><strong>Aim: </strong>To compare less invasive surfactant administration (LISA) and intubation-surfactant-extubation (INSURE) in infants born before 28 weeks gestational age (GA) by the need for mechanical ventilation (MV).</p><p><strong>Methods: </strong>LISA was introduced in 2017 in our unit without formal prior LISA-specific training as an equal alternative to INSURE. Medical records (July 2017 to July 2021) were reviewed for infants born < 28 weeks gestation treated with LISA or INSURE. The primary outcome was needing MV within 72 h, adjusted for potential confounders (including gestational age, birthweight, sex, mode of delivery and FiO<sub>2</sub>) using logistic regression. Secondary outcomes included MV duration, respiratory support duration, first-pass success rate in endotracheal tube or LISA catheter placement and neonatal morbidities.</p><p><strong>Results: </strong>A total of 108 infants (median 26 weeks GA) were included: 51 receiving LISA, 57 receiving INSURE. LISA was associated with a lower need for MV within 72 h (aOR: 0.40, 95% CI: 0.17-0.94) and during admission (aOR: 0.199, [0.075; 0.529]), although the duration of MV and any respiratory support were similar. The first-pass success rate was high in both groups (75%). There were no differences in other secondary outcomes.</p><p><strong>Conclusion: </strong>LISA was associated with a reduced need for MV compared to INSURE, even when implemented without prior formal training.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143506265","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}
Achim Fieß, Sandra Gißler, Dirk Wackernagel, Julia Winter, Norbert Pfeiffer, Alexander K Schuster, Eva Mildenberger, Alica Hartmann
{"title":"Being Born Small for Gestational Age or With Intrauterine Growth Restriction Impairs Adult Anthropometric Development.","authors":"Achim Fieß, Sandra Gißler, Dirk Wackernagel, Julia Winter, Norbert Pfeiffer, Alexander K Schuster, Eva Mildenberger, Alica Hartmann","doi":"10.1111/apa.70036","DOIUrl":"https://doi.org/10.1111/apa.70036","url":null,"abstract":"","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494636","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}
Neda Razaz, Jenny Bolk, Hillary Graham, Eleni Tsamantioti, Kari Johansson, Martina Persson, Mikael Norman
Aim: This study aimed to quantify temporal trends in severe neonatal morbidity (SNM) and examine its association with neonatal mortality, stratified by gestational age.
Methods: This study included all live births in Sweden from 2007 to 2021. SNM types and subtypes were identified based on diagnoses and procedure codes for births ≥ 22 weeks' gestation, including complications within 27 days. Rates were calculated by gestational age, and temporal changes were assessed using rate ratios (RR) and 95% confidence intervals (CI). Adjusted relative risks (aRR) of neonatal death were also estimated.
Results: From 2007 to 2021, 47,048 (2.8%) cases of SNM were identified, rising from 2.2% in 2007 to 3.6% in 2021, mainly due to increased resuscitation/mechanical ventilation rates across all gestational ages. Infections rose among infants born at ≥ 37 weeks (0.59% in 2007-2011 to 0.77% in 2017-2021, RR 1.30, 95% CI, 1.24-1.37), but declined in those born at 22-31 weeks. Neurological morbidity, especially seizures, slightly increased in term and moderately preterm infants. Except for infants born at 22-27 weeks, neonatal mortality risks among infants with SNM were higher in infants with greater gestational ages.
Conclusion: Despite advances in neonatal care, SNM prevalence in Sweden increased from 2007 to 2021 across all gestational ages.
{"title":"Severe Neonatal Morbidity Across Gestational Age: Monitoring Infants at High Risk of Mortality.","authors":"Neda Razaz, Jenny Bolk, Hillary Graham, Eleni Tsamantioti, Kari Johansson, Martina Persson, Mikael Norman","doi":"10.1111/apa.70038","DOIUrl":"https://doi.org/10.1111/apa.70038","url":null,"abstract":"<p><strong>Aim: </strong>This study aimed to quantify temporal trends in severe neonatal morbidity (SNM) and examine its association with neonatal mortality, stratified by gestational age.</p><p><strong>Methods: </strong>This study included all live births in Sweden from 2007 to 2021. SNM types and subtypes were identified based on diagnoses and procedure codes for births ≥ 22 weeks' gestation, including complications within 27 days. Rates were calculated by gestational age, and temporal changes were assessed using rate ratios (RR) and 95% confidence intervals (CI). Adjusted relative risks (aRR) of neonatal death were also estimated.</p><p><strong>Results: </strong>From 2007 to 2021, 47,048 (2.8%) cases of SNM were identified, rising from 2.2% in 2007 to 3.6% in 2021, mainly due to increased resuscitation/mechanical ventilation rates across all gestational ages. Infections rose among infants born at ≥ 37 weeks (0.59% in 2007-2011 to 0.77% in 2017-2021, RR 1.30, 95% CI, 1.24-1.37), but declined in those born at 22-31 weeks. Neurological morbidity, especially seizures, slightly increased in term and moderately preterm infants. Except for infants born at 22-27 weeks, neonatal mortality risks among infants with SNM were higher in infants with greater gestational ages.</p><p><strong>Conclusion: </strong>Despite advances in neonatal care, SNM prevalence in Sweden increased from 2007 to 2021 across all gestational ages.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484756","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}
Dorothea Dumuid, Ashley B Yamanaka, Kar Hau Chong, Anthony D Okely, Lynne R Wilkens, Yurii B Shvetsov, Chloe P Lozano, Rachel Novotny
Aim: Among children in the US-Affiliated Pacific, we aimed to identify lifestyle clusters and associations with obesity.
Methods: Movement behaviours, diet and anthropometrics were from the Children's Healthy Living Program (n = 1780; 2012-2015). Partitioning-around-medoids identified clusters; regression examined differences in anthropometrics.
Results: Among 2-5-year-olds, boys' clusters were: (1) high %energy from (E%) fat and sedentary behaviour; (2) high screen time and energy intake and (3) long sleep. Body mass index z-score (zBMI) was lower in Cluster 3 versus 1 (-0.28 [-0.50; -0.07], p = 0.01). Girls' clusters were: (1) high energy intake; (2) low E% fat and (3) high physical activity and sleep. zBMI was lower in Cluster 3 versus 1 (-0.34 [-0.55; -0.13], p = 0.002). Among 6-8-year-olds, boys' clusters were: (1) high screen time; (2) high energy intake; (3) high E% protein; (4) long sleep and (5) high sedentary time and low E% saturated fat. Compared with Cluster 1, zBMI was lower in Clusters 3 (-0.43 [-0.84; -0.02], p = 0.04), 4 (-0.64 [-1.08; -0.20], p = 0.004) and 5 (-0.93 [-1.35; -0.51], p < 0.001). Girls' clusters were: (1) high E% fat and protein; (2) high screen time and energy intake; (3) short sleep and high physical activity (4) long sleep and (5) low sedentary time. Compared with Cluster 1, zBMI was lower in Clusters 2 (-0.57 [-0.98; -0.17], p = 0.006), 3 (-0.48 [-0.81; -0.14], p = 0.005) and 5 (-0.50 [-0.83; -0.18], p = 0.003).
Conclusion: Various lifestyle patterns support healthy body weight.
{"title":"Diet, Activity and Sleep Clusters Associated With Obesity Markers of Children in the US-Affiliated Pacific.","authors":"Dorothea Dumuid, Ashley B Yamanaka, Kar Hau Chong, Anthony D Okely, Lynne R Wilkens, Yurii B Shvetsov, Chloe P Lozano, Rachel Novotny","doi":"10.1111/apa.70012","DOIUrl":"https://doi.org/10.1111/apa.70012","url":null,"abstract":"<p><strong>Aim: </strong>Among children in the US-Affiliated Pacific, we aimed to identify lifestyle clusters and associations with obesity.</p><p><strong>Methods: </strong>Movement behaviours, diet and anthropometrics were from the Children's Healthy Living Program (n = 1780; 2012-2015). Partitioning-around-medoids identified clusters; regression examined differences in anthropometrics.</p><p><strong>Results: </strong>Among 2-5-year-olds, boys' clusters were: (1) high %energy from (E%) fat and sedentary behaviour; (2) high screen time and energy intake and (3) long sleep. Body mass index z-score (zBMI) was lower in Cluster 3 versus 1 (-0.28 [-0.50; -0.07], p = 0.01). Girls' clusters were: (1) high energy intake; (2) low E% fat and (3) high physical activity and sleep. zBMI was lower in Cluster 3 versus 1 (-0.34 [-0.55; -0.13], p = 0.002). Among 6-8-year-olds, boys' clusters were: (1) high screen time; (2) high energy intake; (3) high E% protein; (4) long sleep and (5) high sedentary time and low E% saturated fat. Compared with Cluster 1, zBMI was lower in Clusters 3 (-0.43 [-0.84; -0.02], p = 0.04), 4 (-0.64 [-1.08; -0.20], p = 0.004) and 5 (-0.93 [-1.35; -0.51], p < 0.001). Girls' clusters were: (1) high E% fat and protein; (2) high screen time and energy intake; (3) short sleep and high physical activity (4) long sleep and (5) low sedentary time. Compared with Cluster 1, zBMI was lower in Clusters 2 (-0.57 [-0.98; -0.17], p = 0.006), 3 (-0.48 [-0.81; -0.14], p = 0.005) and 5 (-0.50 [-0.83; -0.18], p = 0.003).</p><p><strong>Conclusion: </strong>Various lifestyle patterns support healthy body weight.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov identifier: NCT01881373.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484754","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}
Aim: To assess the prevalence of endocrine disorders and investigate growth patterns in single large-scale mitochondrial DNA deletion syndromes (SLSMDs).
Methods: A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.
Results: The cohort included 18 individuals (9 males). The mean age at diagnosis was 4 ± 3.8 years and the mean age at analysis was 12 ± 5.2 years. All patients exhibited at least one endocrine disorder within 5 years post-diagnosis. The most common were short stature (94%), hypoparathyroidism (83%), diabetes (33%), and delayed puberty (30%). A median of seven height measurements per individual produced 159 data points, which enabled generating unique growth charts. The mean puberty height-SDS was significantly lower than that of the general population (-3.71 ± 1.17, p < 0.001). The mean Childhood and puberty height-SDS were significantly reduced compared to the preschool period (-2.13 ± 1.13 vs. -3.35 ± 1.04, p = 0.01; -2.06 ± 1.03 vs. -3.71 ± 1.17, p = 0.007). The mean delta in height-SDS from their parents and the mean insulin-like growth factor 1-SDS were lower than in the general population (2.36 ± 1.28, p = 0.0001 and - 1.53 ± 0.98, p < 0.0001, respectively).
Conclusion: All patients with SLSMD presented with endocrine disorders. Growth during childhood and adolescence was slower. Patients with SLSMD are predisposed to endocrine complications and should undergo timely and routine evaluations.
{"title":"Endocrine Abnormalities and Growth Pattern in Single Large-Scale Mitochondrial DNA Deletion Syndromes.","authors":"Ayman Daka, Einat Lahav, Omer Bar Yosef, Yoav Bolkier, Yael Levy-Shraga, Yair Anikster, Elad Jacoby, Noah Gruber","doi":"10.1111/apa.70040","DOIUrl":"https://doi.org/10.1111/apa.70040","url":null,"abstract":"<p><strong>Aim: </strong>To assess the prevalence of endocrine disorders and investigate growth patterns in single large-scale mitochondrial DNA deletion syndromes (SLSMDs).</p><p><strong>Methods: </strong>A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.</p><p><strong>Results: </strong>The cohort included 18 individuals (9 males). The mean age at diagnosis was 4 ± 3.8 years and the mean age at analysis was 12 ± 5.2 years. All patients exhibited at least one endocrine disorder within 5 years post-diagnosis. The most common were short stature (94%), hypoparathyroidism (83%), diabetes (33%), and delayed puberty (30%). A median of seven height measurements per individual produced 159 data points, which enabled generating unique growth charts. The mean puberty height-SDS was significantly lower than that of the general population (-3.71 ± 1.17, p < 0.001). The mean Childhood and puberty height-SDS were significantly reduced compared to the preschool period (-2.13 ± 1.13 vs. -3.35 ± 1.04, p = 0.01; -2.06 ± 1.03 vs. -3.71 ± 1.17, p = 0.007). The mean delta in height-SDS from their parents and the mean insulin-like growth factor 1-SDS were lower than in the general population (2.36 ± 1.28, p = 0.0001 and - 1.53 ± 0.98, p < 0.0001, respectively).</p><p><strong>Conclusion: </strong>All patients with SLSMD presented with endocrine disorders. Growth during childhood and adolescence was slower. Patients with SLSMD are predisposed to endocrine complications and should undergo timely and routine evaluations.</p>","PeriodicalId":55562,"journal":{"name":"Acta Paediatrica","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143477271","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}