Pub Date : 2026-01-21DOI: 10.1542/peds.2024-068114
Stephanie Vachon,Hyacinth Lewis,Kellie Hooker,Rebecca Gillis,Colby Day,Andrew M Dylag
BACKGROUND AND OBJECTIVESExtremely low birth weight newborns are at increased risk of pain and agitation, prompting treatment with opiates and benzodiazepines, which are associated with adverse neurodevelopmental and pulmonary outcomes. We aimed to decrease the cumulative dose of opiates and benzodiazepines given to infants at 28 weeks' gestation or younger or weighing at most 1000 g at birth on high-frequency jet ventilation by 50% over 12 months and sustain that improvement for 6 months in our level IV neonatal intensive care unit.METHODSA multidisciplinary team undertook a quality improvement initiative using the Model for Improvement. A driver diagram identified primary drivers of lack of awareness of the potential harms of medications, lack of standardization of pain assessments, and lack of clear medication indications for initiation. Plan-Do-Study-Act cycles tested 6 interventions. Statistical process control charts were used to analyze data over time for special cause variation.RESULTSWe observed special cause variation with decreased cumulative doses of opiates and benzodiazepines per patient by 75.9% and 61.5%, respectively. Process measures for guideline adherence and pain documentation also improved. Balancing measures of pain scores and unplanned extubations did not worsen. Changes were implemented over 12 months and sustained for more than 6 months.CONCLUSIONSOur efforts to standardize medication administration, pain assessments, and frequent pain/agitation audits significantly decreased exposure to opiates and benzodiazepines via a multidisciplinary quality improvement approach.
{"title":"Reducing Opiate and Benzodiazepine Exposure in Preterm Infants on High-Frequency Jet Ventilation.","authors":"Stephanie Vachon,Hyacinth Lewis,Kellie Hooker,Rebecca Gillis,Colby Day,Andrew M Dylag","doi":"10.1542/peds.2024-068114","DOIUrl":"https://doi.org/10.1542/peds.2024-068114","url":null,"abstract":"BACKGROUND AND OBJECTIVESExtremely low birth weight newborns are at increased risk of pain and agitation, prompting treatment with opiates and benzodiazepines, which are associated with adverse neurodevelopmental and pulmonary outcomes. We aimed to decrease the cumulative dose of opiates and benzodiazepines given to infants at 28 weeks' gestation or younger or weighing at most 1000 g at birth on high-frequency jet ventilation by 50% over 12 months and sustain that improvement for 6 months in our level IV neonatal intensive care unit.METHODSA multidisciplinary team undertook a quality improvement initiative using the Model for Improvement. A driver diagram identified primary drivers of lack of awareness of the potential harms of medications, lack of standardization of pain assessments, and lack of clear medication indications for initiation. Plan-Do-Study-Act cycles tested 6 interventions. Statistical process control charts were used to analyze data over time for special cause variation.RESULTSWe observed special cause variation with decreased cumulative doses of opiates and benzodiazepines per patient by 75.9% and 61.5%, respectively. Process measures for guideline adherence and pain documentation also improved. Balancing measures of pain scores and unplanned extubations did not worsen. Changes were implemented over 12 months and sustained for more than 6 months.CONCLUSIONSOur efforts to standardize medication administration, pain assessments, and frequent pain/agitation audits significantly decreased exposure to opiates and benzodiazepines via a multidisciplinary quality improvement approach.","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"183 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146005470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The digital ecosystem now comprises immersive technologies, including but not limited to the internet, algorithms, artificial intelligence, social media, apps, video games, TV, interactive agents, tablets, wearable technology, and mobile devices. In recent decades, research on digital media has more closely aligned with the varied ways that families use digital media. The traditional notion of "screen time" therefore represents just the tip of the iceberg of families' experiences with devices. Beneath the visible surface lies a vast structure of policy, community, and economic incentives that deeply shape children's interactions with technology. This technical report reviews the evidence that situates children's health and well-being in the conceptual framework of Bronfenbrenner's socioecological model and the concentric systems that shape children's relationships with digital media. These systems include children's own characteristics, their caregivers (eg, parents), digital ecosystem, and systems and structures (eg, policy, community) that deeply shape their experiences. Given the outsized influences of digital ecosystems on children's experiences, "media and children" cannot be examined in isolation or reduced to individual screen behaviors alone. Instead, it must be viewed through the broader context of these nested influences, with a review of the evidence primarily from the United States.
{"title":"Digital Ecosystems, Children, and Adolescents: Technical Report.","authors":"Tiffany Munzer,Libby Matile Milkovich,Sheri Madigan,Suzy Tomopoulos,Joanna Parga-Belinkie,Taiwo Ajumobi,Corinn Cross,Roslyn Gerwin, ","doi":"10.1542/peds.2025-075321","DOIUrl":"https://doi.org/10.1542/peds.2025-075321","url":null,"abstract":"The digital ecosystem now comprises immersive technologies, including but not limited to the internet, algorithms, artificial intelligence, social media, apps, video games, TV, interactive agents, tablets, wearable technology, and mobile devices. In recent decades, research on digital media has more closely aligned with the varied ways that families use digital media. The traditional notion of \"screen time\" therefore represents just the tip of the iceberg of families' experiences with devices. Beneath the visible surface lies a vast structure of policy, community, and economic incentives that deeply shape children's interactions with technology. This technical report reviews the evidence that situates children's health and well-being in the conceptual framework of Bronfenbrenner's socioecological model and the concentric systems that shape children's relationships with digital media. These systems include children's own characteristics, their caregivers (eg, parents), digital ecosystem, and systems and structures (eg, policy, community) that deeply shape their experiences. Given the outsized influences of digital ecosystems on children's experiences, \"media and children\" cannot be examined in isolation or reduced to individual screen behaviors alone. Instead, it must be viewed through the broader context of these nested influences, with a review of the evidence primarily from the United States.","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"5 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146005475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Digital media, including television, the internet, social media, video games, and interactive assistants, form the digital ecosystem. When this digital ecosystem is designed with children's unique developmental needs in mind, it can support learning and well-being. In contrast, digital ecosystems that prioritize engagement and commercialization often encourage prolonged use, which in turn can displace healthy behaviors (eg, movement behaviors, sleep), and contribute to negative outcomes. This policy statement follows the conceptual framework of the socioecological model, depicting nested circles of care including: children's own characteristics, their caregivers, the digital ecosystem, as well as broader societal systems. Given the interconnected nature of these influences and systems, "media and children" cannot be viewed solely through the lens of individual child behaviors or screen limits alone. Recommendations are provided for families, pediatric providers, practitioners (eg, psychologists, social workers, counselors, educators, researchers), industry, and policy makers, aiming to provide strengths-based solutions and promote a more child-centered digital ecosystem.
{"title":"Digital Ecosystems, Children, and Adolescents: Policy Statement.","authors":"Tiffany Munzer,Joanna Parga-Belinkie,Libby Matile Milkovich,Suzy Tomopoulos,Taiwo Ajumobi,Corinn Cross,Roslyn Gerwin,Sheri Madigan,R Psych, ","doi":"10.1542/peds.2025-075320","DOIUrl":"https://doi.org/10.1542/peds.2025-075320","url":null,"abstract":"Digital media, including television, the internet, social media, video games, and interactive assistants, form the digital ecosystem. When this digital ecosystem is designed with children's unique developmental needs in mind, it can support learning and well-being. In contrast, digital ecosystems that prioritize engagement and commercialization often encourage prolonged use, which in turn can displace healthy behaviors (eg, movement behaviors, sleep), and contribute to negative outcomes. This policy statement follows the conceptual framework of the socioecological model, depicting nested circles of care including: children's own characteristics, their caregivers, the digital ecosystem, as well as broader societal systems. Given the interconnected nature of these influences and systems, \"media and children\" cannot be viewed solely through the lens of individual child behaviors or screen limits alone. Recommendations are provided for families, pediatric providers, practitioners (eg, psychologists, social workers, counselors, educators, researchers), industry, and policy makers, aiming to provide strengths-based solutions and promote a more child-centered digital ecosystem.","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"2 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146005569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-20DOI: 10.1542/peds.2025-073003
Jonathan D Hron,Brenda L Dodson
{"title":"Electronic Health Records and the Risk of Medication Errors.","authors":"Jonathan D Hron,Brenda L Dodson","doi":"10.1542/peds.2025-073003","DOIUrl":"https://doi.org/10.1542/peds.2025-073003","url":null,"abstract":"","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"65 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146005237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-20DOI: 10.1542/peds.2024-070043
Alison Merchant,Erin Fitzpatrick,Johanna I Westbrook,Melissa T Baysari,Bayzidur Rahman,Ling Li,Geoffrey R Ambler,Magdalena Z Raban
OBJECTIVEHigh-risk medicine (HRM) prescribing errors in pediatrics are a safety concern. Technology-related errors (TREs) occur when the design of computerized provider order entry (CPOE) facilitates errors. We aimed to measure the proportion of HRM errors that were TREs and the HRM TRE rate at 2 pediatric hospitals, describe TRE types, and examine their underlying mechanisms.METHODSWe identified 7014 HRM orders from retrospective medical record review of 18 951 medication orders for 2192 pediatric inpatients at 2 hospitals with the same CPOE in 2020. HRM prescribing errors were classified by clinical error type (eg, wrong dose, route) and potential harm. TREs were identified and their mechanisms (how they occurred-eg, selection error, editing error) classified. The rate was TREs/100 HRM orders. CI was estimated from Poisson models for rates and Wilson method for proportions.RESULTSOf the HRM orders, 20% (n = 1404) had at least 1 error. Of 1589 errors, 23.8% (n = 378) were TREs, with a rate of 5.39/100 HRM orders (95% CI, 4.86-5.96), and 32.5% (95% CI, 28.0-37.4) were potentially serious. TREs most frequently resulted in duplicate drug errors (47.4% of TREs; 95% CI, 42.4-52.4) and wrong-dose errors (20.9% of TREs; 95% CI, 17.1-25.3). The medications most frequently associated with TREs were insulin, anticoagulants, and narcotics. The most frequent TRE mechanism was "workflow" issues.CONCLUSIONSOne in 4 HRM prescribing errors was technology related, one-third were potentially serious, and almost half were duplicate drug errors. Understanding HRM TREs can inform CPOE optimization to mitigate these errors and improve safety.
{"title":"High-Risk Medicines and Technology-Related Prescribing Errors in 2 Pediatric Hospitals.","authors":"Alison Merchant,Erin Fitzpatrick,Johanna I Westbrook,Melissa T Baysari,Bayzidur Rahman,Ling Li,Geoffrey R Ambler,Magdalena Z Raban","doi":"10.1542/peds.2024-070043","DOIUrl":"https://doi.org/10.1542/peds.2024-070043","url":null,"abstract":"OBJECTIVEHigh-risk medicine (HRM) prescribing errors in pediatrics are a safety concern. Technology-related errors (TREs) occur when the design of computerized provider order entry (CPOE) facilitates errors. We aimed to measure the proportion of HRM errors that were TREs and the HRM TRE rate at 2 pediatric hospitals, describe TRE types, and examine their underlying mechanisms.METHODSWe identified 7014 HRM orders from retrospective medical record review of 18 951 medication orders for 2192 pediatric inpatients at 2 hospitals with the same CPOE in 2020. HRM prescribing errors were classified by clinical error type (eg, wrong dose, route) and potential harm. TREs were identified and their mechanisms (how they occurred-eg, selection error, editing error) classified. The rate was TREs/100 HRM orders. CI was estimated from Poisson models for rates and Wilson method for proportions.RESULTSOf the HRM orders, 20% (n = 1404) had at least 1 error. Of 1589 errors, 23.8% (n = 378) were TREs, with a rate of 5.39/100 HRM orders (95% CI, 4.86-5.96), and 32.5% (95% CI, 28.0-37.4) were potentially serious. TREs most frequently resulted in duplicate drug errors (47.4% of TREs; 95% CI, 42.4-52.4) and wrong-dose errors (20.9% of TREs; 95% CI, 17.1-25.3). The medications most frequently associated with TREs were insulin, anticoagulants, and narcotics. The most frequent TRE mechanism was \"workflow\" issues.CONCLUSIONSOne in 4 HRM prescribing errors was technology related, one-third were potentially serious, and almost half were duplicate drug errors. Understanding HRM TREs can inform CPOE optimization to mitigate these errors and improve safety.","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"2 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146005476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-20DOI: 10.1542/peds.2025-075319
Katherine E Remick,Ashley A Foster,Aaron R Jensen,Regan F Williams,Elizabeth Stone,Madeline Joseph,Gregory P Conners,Kathleen Brown,Marianne Gausche-Hill, , , , , ,
This is a revision of the previous 2018 joint technical report titled "Pediatric Readiness in the Emergency Department." Children have unique physical and psychosocial needs that are heightened in the setting of serious or life-threatening emergencies. Most ill and injured children and those with mental health emergencies are brought to community hospital emergency departments (EDs) by virtue of proximity. Therefore, all EDs must have the appropriate resources (medications, equipment, policies, and education) and staff to provide effective emergency care for children. This technical report outlines the evidence and rationale supporting resources necessary for EDs to stand ready to care for children of all ages. Although resources within emergency and trauma care systems vary locally, regionally, and nationally, ED staff, administrators, and medical directors can ensure high-quality emergency care is available for all children. The updated recommendations in the accompanying policy statement of the same title are intended to serve as a resource for clinical and administrative leadership of EDs as they strive to improve their readiness for children of all ages.
{"title":"Pediatric Readiness in the Emergency Department: Technical Report.","authors":"Katherine E Remick,Ashley A Foster,Aaron R Jensen,Regan F Williams,Elizabeth Stone,Madeline Joseph,Gregory P Conners,Kathleen Brown,Marianne Gausche-Hill, , , , , , ","doi":"10.1542/peds.2025-075319","DOIUrl":"https://doi.org/10.1542/peds.2025-075319","url":null,"abstract":"This is a revision of the previous 2018 joint technical report titled \"Pediatric Readiness in the Emergency Department.\" Children have unique physical and psychosocial needs that are heightened in the setting of serious or life-threatening emergencies. Most ill and injured children and those with mental health emergencies are brought to community hospital emergency departments (EDs) by virtue of proximity. Therefore, all EDs must have the appropriate resources (medications, equipment, policies, and education) and staff to provide effective emergency care for children. This technical report outlines the evidence and rationale supporting resources necessary for EDs to stand ready to care for children of all ages. Although resources within emergency and trauma care systems vary locally, regionally, and nationally, ED staff, administrators, and medical directors can ensure high-quality emergency care is available for all children. The updated recommendations in the accompanying policy statement of the same title are intended to serve as a resource for clinical and administrative leadership of EDs as they strive to improve their readiness for children of all ages.","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"31 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146005021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-16DOI: 10.1542/peds.2024-070144
Mary Witt,Joy A Bress,Jonathan P Winickoff,Stephanie L Santoro
OBJECTIVESChildren with Down syndrome (DS) develop skills at varied rates. Data from one academic DS program estimating the timing of skill development in patients with DS were published in October 2024. This study builds on their research through review of caregiver-reported developmental data of individuals with DS.METHODSAs part of our larger study to validate the DS Health Measure, 542 caregivers of individuals with DS aged 0 to 21 years were recruited nationally to complete our survey. We described demographic characteristics, including Child Opportunity Index (COI) corresponding to participants' zip codes, communication style, therapies received, and caregiver coordination efforts. We calculated the percent attainment of 23 developmental skills for 27 age groups, and we compared COI and walking age.RESULTSChildren with DS frequently attained gross motor skills; most children with DS aged 3.5 to 4 years (7 of 9), 4 to 4.5 years (10 of 10) and 4.5 to 5 years (12 of 13) walked independently. The proportion attaining language, self-care, and independence skills varied; most (69%) of our cohort primarily communicated with verbal speech. Most individuals with DS received multiple types of therapies, and most caregivers spent at least 1 to 6 hours coordinating supports and activities per month. COI did not correlate with walking age.CONCLUSIONSOur data build on the existing literature describing developmental skill attainment in DS. In collaboration with data from published studies, our findings can provide a foundation for the creation of a comprehensive developmental skills tool for DS.
{"title":"Caregiver-Reported Attainment of Developmental Skills in Down Syndrome.","authors":"Mary Witt,Joy A Bress,Jonathan P Winickoff,Stephanie L Santoro","doi":"10.1542/peds.2024-070144","DOIUrl":"https://doi.org/10.1542/peds.2024-070144","url":null,"abstract":"OBJECTIVESChildren with Down syndrome (DS) develop skills at varied rates. Data from one academic DS program estimating the timing of skill development in patients with DS were published in October 2024. This study builds on their research through review of caregiver-reported developmental data of individuals with DS.METHODSAs part of our larger study to validate the DS Health Measure, 542 caregivers of individuals with DS aged 0 to 21 years were recruited nationally to complete our survey. We described demographic characteristics, including Child Opportunity Index (COI) corresponding to participants' zip codes, communication style, therapies received, and caregiver coordination efforts. We calculated the percent attainment of 23 developmental skills for 27 age groups, and we compared COI and walking age.RESULTSChildren with DS frequently attained gross motor skills; most children with DS aged 3.5 to 4 years (7 of 9), 4 to 4.5 years (10 of 10) and 4.5 to 5 years (12 of 13) walked independently. The proportion attaining language, self-care, and independence skills varied; most (69%) of our cohort primarily communicated with verbal speech. Most individuals with DS received multiple types of therapies, and most caregivers spent at least 1 to 6 hours coordinating supports and activities per month. COI did not correlate with walking age.CONCLUSIONSOur data build on the existing literature describing developmental skill attainment in DS. In collaboration with data from published studies, our findings can provide a foundation for the creation of a comprehensive developmental skills tool for DS.","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"1 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145986216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sitosterolemia is a rare autosomal recessive disorder of lipid metabolism, with varied incidence rates of 1/200 000 to 1/1 000 000. The condition often presents prepubertally, but is commonly misdiagnosed as familial hypercholesterolemia. We want to raise clinical suspicion across pediatric generalists and subspecialties with our case report of a 7-year-old girl who presented via ophthalmology following the surgical removal of a lipid keratopathy of her cornea. Four years before her presentation at ophthalmology, she also underwent surgical excision of a large xanthoma from her left buttock. There was no further diagnostic workup at that point. On examination, she had multiple tuberous xanthomas on her knuckles and knees in addition to the corneal deposits. Baseline lipid investigation revealed a markedly elevated total cholesterol of 11.9 mmol/L and an LDL cholesterol of 10.2 mmol/L. She was given a presumptive diagnosis of familial hypercholesterolemia and started on statin therapy, to which she had a partial response. Molecular genetic analysis for familial hypercholesterolemia was negative, but because of the high index of suspicion, an expanded genetics panel was requested that demonstrated compound heterozygous variants in the ABCG5 gene, pathogenic for sitosterolemia. Sterol analysis demonstrated markedly elevated phytosterol levels consistent with the genetic findings. The patient was treated with dietary restriction of plant sterols and Ezetimibe. Computed tomography coronary angiogram showed no coronary artery calcification. An awareness of sitosterolemia amongst pediatricians is vitally important as this condition may present to numerous specialties, as evidenced in this case. Recommended lifestyle and pharmacotherapy interventions differ between sitosterolemia and familial hypercholesterolemia.
{"title":"Sitosterolemia Presenting as Lipid Keratopathy and Xanthomas.","authors":"Eleanor Burke,Michael O'Meara,Niamh McGrath,Damian Griffin","doi":"10.1542/peds.2025-072657","DOIUrl":"https://doi.org/10.1542/peds.2025-072657","url":null,"abstract":"Sitosterolemia is a rare autosomal recessive disorder of lipid metabolism, with varied incidence rates of 1/200 000 to 1/1 000 000. The condition often presents prepubertally, but is commonly misdiagnosed as familial hypercholesterolemia. We want to raise clinical suspicion across pediatric generalists and subspecialties with our case report of a 7-year-old girl who presented via ophthalmology following the surgical removal of a lipid keratopathy of her cornea. Four years before her presentation at ophthalmology, she also underwent surgical excision of a large xanthoma from her left buttock. There was no further diagnostic workup at that point. On examination, she had multiple tuberous xanthomas on her knuckles and knees in addition to the corneal deposits. Baseline lipid investigation revealed a markedly elevated total cholesterol of 11.9 mmol/L and an LDL cholesterol of 10.2 mmol/L. She was given a presumptive diagnosis of familial hypercholesterolemia and started on statin therapy, to which she had a partial response. Molecular genetic analysis for familial hypercholesterolemia was negative, but because of the high index of suspicion, an expanded genetics panel was requested that demonstrated compound heterozygous variants in the ABCG5 gene, pathogenic for sitosterolemia. Sterol analysis demonstrated markedly elevated phytosterol levels consistent with the genetic findings. The patient was treated with dietary restriction of plant sterols and Ezetimibe. Computed tomography coronary angiogram showed no coronary artery calcification. An awareness of sitosterolemia amongst pediatricians is vitally important as this condition may present to numerous specialties, as evidenced in this case. Recommended lifestyle and pharmacotherapy interventions differ between sitosterolemia and familial hypercholesterolemia.","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"37 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145986215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-16DOI: 10.1542/peds.2025-073572
Danielle J Green,Alexa Pagano,Jennifer Goldman,Anjali D Deshmukh
{"title":"Policy Without Penalty: A Review of Pediatric Research Equity Act Noncompliance Letters.","authors":"Danielle J Green,Alexa Pagano,Jennifer Goldman,Anjali D Deshmukh","doi":"10.1542/peds.2025-073572","DOIUrl":"https://doi.org/10.1542/peds.2025-073572","url":null,"abstract":"","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"30 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145986217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-15DOI: 10.1542/peds.2025-073393
Junia N de Brito,Alicia Kunin-Batson
{"title":"Early Cardiovascular Health and Cognitive Function in Young Adulthood: New Insights From Childhood.","authors":"Junia N de Brito,Alicia Kunin-Batson","doi":"10.1542/peds.2025-073393","DOIUrl":"https://doi.org/10.1542/peds.2025-073393","url":null,"abstract":"","PeriodicalId":20028,"journal":{"name":"Pediatrics","volume":"1 1","pages":""},"PeriodicalIF":8.0,"publicationDate":"2026-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145971853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：