Paediatrics & child health最新文献

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Step 1 in developmental care: Surveillance tools. 发育照护的第一步:监测工具。
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-07-03 eCollection Date: 2026-09-01 DOI: 10.1093/pch/pxaf065
Cara Dosman, Sheila Gallagher, Sandra Sahagian Whalen, Dorrie Koscielnuk, Patricia LaBerge, Cynthia Brown, Beverley Hanson, Daniella Ongaro, Courtenay Mayowski, Debbi Andrews, Colin Wilbur
{"title":"Step 1 in developmental care: Surveillance tools.","authors":"Cara Dosman, Sheila Gallagher, Sandra Sahagian Whalen, Dorrie Koscielnuk, Patricia LaBerge, Cynthia Brown, Beverley Hanson, Daniella Ongaro, Courtenay Mayowski, Debbi Andrews, Colin Wilbur","doi":"10.1093/pch/pxaf065","DOIUrl":"https://doi.org/10.1093/pch/pxaf065","url":null,"abstract":"<p><p>This article provides practical tools for primary care providers to monitor child development and detect problems, Step 1 in developmental care. Novel one-page developmental attainments charts called <i>Crucial skills</i> can be used in developmental surveillance of children from newborn to 12 years, to review whether the child has attained skills expected for their age. Tables provide risk factors for developmental delay and where to refer when delays are found. Supportive information is offered for managing all components of surveillance, including when to do surveillance at well-child visits versus only if there are concerns, when to use standardized screening instruments versus history and observations with developmental attainments chart, recommended screens for various ages, parenting guidance, fostering family resiliency and medical investigations. A comprehensive <i>School Age Developmental Attainments</i> chart is presented to answer parents questions, see the age range for skills and review the level of evidence for references. Primary care providers reading this article will be equipped with tools for their essential role in Step 1 of developmental care: Surveillance.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 6","pages":"593-604"},"PeriodicalIF":2.5,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13580642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991097","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
Newborn screening for hemoglobinopathies: a review of Canadian data from 2020 to 2023. 新生儿血红蛋白病筛查:2020年至2023年加拿大数据回顾
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-06-30 eCollection Date: 2026-09-01 DOI: 10.1093/pch/pxag038
Shauna Peng, Ross Ridsdale, Iveta Sosova, Lauren MacNeil, Margaret Lilley, Janet Marcadier, Yves Giguère, Marie-Thérèse Berthier, Mohamed Chouaibou, Graham Sinclair, Zaiping Liu, Paul Van Caeseele, Aisha Bruce
{"title":"Newborn screening for hemoglobinopathies: a review of Canadian data from 2020 to 2023.","authors":"Shauna Peng, Ross Ridsdale, Iveta Sosova, Lauren MacNeil, Margaret Lilley, Janet Marcadier, Yves Giguère, Marie-Thérèse Berthier, Mohamed Chouaibou, Graham Sinclair, Zaiping Liu, Paul Van Caeseele, Aisha Bruce","doi":"10.1093/pch/pxag038","DOIUrl":"https://doi.org/10.1093/pch/pxag038","url":null,"abstract":"<p><strong>Objectives: </strong>Newborn screening (NBS) for hemoglobinopathies continues to grow in Canada. This study aims to describe the current diagnostic rates of hemoglobinopathies and hemoglobinopathy carriers through NBS programs in Canada, which has never been reviewed comprehensively across the country.</p><p><strong>Methods: </strong>We requested collaboration from provincial or territorial NBS programs in Canada on this cross-sectional study which included screening data from January 1, 2020 to December 31, 2023, inclusive. The data collection encompassed screening for hemoglobinopathies (including sickle cell disease, thalassemia, and other variants), hemoglobinopathy carriers, and relevant laboratory information.</p><p><strong>Results: </strong>90% of Canadian newborns were screened for hemoglobinopathies by NBS between the study dates. On average, 1 in 2000 newborns is diagnosed with a hemoglobinopathy by NBS across Canada. Sickle cell disease (SCD) (including HbS/S, HbS/C, HbS/β<sup>0</sup>, HbS/β+, and HbS/HPFH) was the most common outcome, affecting 1 in 2700 newborns. Thalassemia (including Hbβ<sup>0</sup>/β<sup>0</sup>, HbE/E, HbE/β<sup>0</sup>, and HBH) is diagnosed by NBS at a rate of 1 in 10,000 newborns. NBS additionally identifies 1 in 72 newborns as a carrier of a hemoglobinopathy. Sickle cell trait is identified in 1 in 118 newborns.</p><p><strong>Conclusion: </strong>This study established hemoglobinopathy and carrier identification rates among children born in Canada essential in establishing the epidemiology of SCD, Thalassemia, and other hemoglobinopathies. When compared with previous publications, the findings of this study suggest an increase in the incidence of SCD in Canadian newborns over time.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 6","pages":"647-653"},"PeriodicalIF":2.5,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13580632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991032","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
Importance of identifying the early ocular signs in clinching the diagnosis of a child with developmental delay, splenohepatomegaly and bicytopenia. 早期眼部体征识别对发育迟缓、脾肝肿大、双氧减少儿童诊断的重要性。
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-06-15 eCollection Date: 2026-07-01 DOI: 10.1093/pch/pxag056
Shuriya Prabha Moorthy, Ramya Srinivasa Rangan, Venkatesh Chandrasekaran, Dhandapany Gunasekaran
{"title":"Importance of identifying the early ocular signs in clinching the diagnosis of a child with developmental delay, splenohepatomegaly and bicytopenia.","authors":"Shuriya Prabha Moorthy, Ramya Srinivasa Rangan, Venkatesh Chandrasekaran, Dhandapany Gunasekaran","doi":"10.1093/pch/pxag056","DOIUrl":"10.1093/pch/pxag056","url":null,"abstract":"","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 5","pages":"421-422"},"PeriodicalIF":2.5,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13457935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148713456","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
A Card is worth a thousand questions: a clinical resource to support Canadian medical students and their preceptors. 一张卡胜过一千个问题:一个临床资源,以支持加拿大医学生和他们的导师。
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-06-15 eCollection Date: 2026-07-01 DOI: 10.1093/pch/pxag053
Susan L Bannister, Karen L Forbes, Hosanna Au, Marc E Zucker, Gabrielle Weiler, Angela Punnett, Mumtaz Virji, Michael K Paget
{"title":"A Card is worth a thousand questions: a clinical resource to support Canadian medical students and their preceptors.","authors":"Susan L Bannister, Karen L Forbes, Hosanna Au, Marc E Zucker, Gabrielle Weiler, Angela Punnett, Mumtaz Virji, Michael K Paget","doi":"10.1093/pch/pxag053","DOIUrl":"10.1093/pch/pxag053","url":null,"abstract":"<p><strong>Objective: </strong>Having developed a national paediatric undergraduate curriculum, <i>canuc-paeds</i>, our group identified a need for active learning resources aligned with it to support Canadian medical students and preceptors. We developed a formative e-learning resource, called Cards, that enables students to self-test, supplement their clinical experiences, and develop their clinical decision-making skills in paediatrics.</p><p><strong>Methods: </strong>We present an educational innovation, Cards, describing the stepwise approach of its development; variability is introduced into the Card through both discriminating and non-discriminating variables. Unique vignettes are randomly generated in real time allowing for thousands of cases. The student plays individual Cards based on clinical presentations; a clinical vignette and an associated question about diagnosis, investigation, or management is presented; feedback and additional resources are provided. We present usage metrics to demonstrate breadth of use.</p><p><strong>Results: </strong>While developed for Canadian students, this resource has been used by learners worldwide. Eighty-five per cent of students at one institution viewed Cards as an effective teaching tool and more effective than online lectures, case-based learning, flipped classroom, or self-directed modules. A web-based survey reported Cards more effective than other select resources. There were over 280,000 unique plays in 2024 and 2025, and over 1.5 million unique Card plays since launch.</p><p><strong>Conclusion: </strong>Cards, based on paediatric clinical vignettes that reflect clinical practice, is a tool that may help learners develop clinical decision-making skills. Cards have demonstrated a high rate of return on authors' investment, as the technology generates thousands of unique vignettes from a single template. High-usage rates support Cards as a valuable open-access resource.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 5","pages":"451-458"},"PeriodicalIF":2.5,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13382896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148606097","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
Adrenal suppression secondary to inhaled corticosteroids. 继发于吸入皮质类固醇的肾上腺抑制。
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-06-15 eCollection Date: 2026-09-01 DOI: 10.1093/pch/pxag048
Corin MacPhail, Elizabeth Rosolowsky, Connie Yang, Teresa Pinto, Carly Baxter, Anne Hicks
{"title":"Adrenal suppression secondary to inhaled corticosteroids.","authors":"Corin MacPhail, Elizabeth Rosolowsky, Connie Yang, Teresa Pinto, Carly Baxter, Anne Hicks","doi":"10.1093/pch/pxag048","DOIUrl":"https://doi.org/10.1093/pch/pxag048","url":null,"abstract":"<p><p>Inhaled corticosteroids (ICS) are the foundation of treatment for pediatric asthma, and ICS are significantly safer than repeated courses of systemic steroids. However, systemic effects from ICS include adrenal suppression (AS), which is under recognized and can be life-threatening. Signs and symptoms of AS are often subtle and can be difficult to recognize. The Canadian Pediatric Society and Adrenal Suppression Working Group recommend screening for AS in: asymptomatic children receiving high dose ICS therapy for ≥3 months, any dose ICS in conjunction with a CYP3A4 inhibitor, and any children with AS symptoms, regardless of ICS dose. Screening should be done with a morning serum cortisol, and consultation with Pediatric Endocrinology is warranted if morning cortisol is low or there is high clinical suspicion. Factors such as age-specific dosing, ICS administration technique and adherence, comorbidities, and triggers should be considered when managing asthma to decrease risk of AS.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 6","pages":"607-609"},"PeriodicalIF":2.5,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13580634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991003","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
Between roles: a physician's reflection on healing, teaching, and motherhood. 角色之间:医生对治疗、教学和母性的反思。
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-06-15 eCollection Date: 2026-07-01 DOI: 10.1093/pch/pxag055
Faiqa Hassan, Safi Ullah Khan
{"title":"Between roles: a physician's reflection on healing, teaching, and motherhood.","authors":"Faiqa Hassan, Safi Ullah Khan","doi":"10.1093/pch/pxag055","DOIUrl":"10.1093/pch/pxag055","url":null,"abstract":"<p><p>Despite the rising number of female physicians globally, they continue to navigate significant gender-equity challenges and higher rates of burnout compared to their male peers. This reflective essay explores the intersection of paediatric practice, academic pursuit, and the \"second shift\" of domestic labour.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 5","pages":"445-446"},"PeriodicalIF":2.5,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13382886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148606036","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
Clinical presentation and disease severity in adolescent-onset familial Mediterranean fever. 青少年家族性地中海热的临床表现和疾病严重程度。
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-06-12 eCollection Date: 2026-09-01 DOI: 10.1093/pch/pxag045
Şeyma Erdem Torun, Yasemin Uğur Es, Emine Özçelik, Didem Öztürk, Sultan Nilay Yoğun, Merve Kaşıkçı, Mehveş Işıklar Ekici, Elif Çelikel, Zahide Ekici Tekin, Cüneyt Karagöl, Şeyma Ertem, Esra Esen, Esra Nur Şener, Banu Çelikel Acar
{"title":"Clinical presentation and disease severity in adolescent-onset familial Mediterranean fever.","authors":"Şeyma Erdem Torun, Yasemin Uğur Es, Emine Özçelik, Didem Öztürk, Sultan Nilay Yoğun, Merve Kaşıkçı, Mehveş Işıklar Ekici, Elif Çelikel, Zahide Ekici Tekin, Cüneyt Karagöl, Şeyma Ertem, Esra Esen, Esra Nur Şener, Banu Çelikel Acar","doi":"10.1093/pch/pxag045","DOIUrl":"https://doi.org/10.1093/pch/pxag045","url":null,"abstract":"<p><strong>Objectives: </strong>Familial Mediterranean fever (FMF) shows marked phenotypic variability depending upon age at symptom onset. This study compared clinical characteristics, genetic variants, and disease severity of paediatric FMF patients according to age at symptom onset.</p><p><strong>Methods: </strong>This study included 1203 paediatric FMF patients followed 2015 through 2025. Patients were classified into two groups based on age at symptom onset: <10 or ≥10 years. Demographic, clinical, genetic, and treatment-related variables were compared between groups. Multivariate logistic regression analysis identified factors independently associated with age at symptom onset ≥10 years.</p><p><strong>Results: </strong>Symptoms began at <10 years in 1043 patients (86.7%) and at ≥10 years in 160 patients (13.3%). Patients with later onset had shorter diagnostic delay (<i>P</i> < 0.05). Fever and abdominal pain were more common in patients with onset <10 years (<i>P</i> < 0.001), whereas chest pain (29.3% vs. 21.5%, <i>P</i> = 0.029) and arthritis (25.6% vs. 14.5%, <i>P</i> < 0.001) were more frequent in those with onset ≥10 years. M694V homozygosity was significantly less frequent in the ≥10 group (13.1% vs. 26.9%, <i>P</i> = 0.004). In multivariate analysis, age at symptom onset ≥10 years was independently associated with lower fever frequency (odds ratio [OR] 0.32, 95% confidence interval [CI] 0.22 to 0.46) and higher chest pain frequency (OR 1.63, 95% CI 1.07 to 2.49).</p><p><strong>Conclusion: </strong>Age at symptom onset is closely related to clinical phenotype in paediatric FMF. Adolescent-onset FMF is more frequently characterized by chest pain. These findings highlight the importance of considering FMF in adolescents with recurrent chest pain, even without typical febrile attacks.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 6","pages":"662-669"},"PeriodicalIF":2.5,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13580628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991051","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
Public funding for paediatric medications in Canada. 加拿大儿科药物的公共资金。
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-06-11 eCollection Date: 2026-09-01 DOI: 10.1093/pch/pxag039
Grace Chen, Junu Choe, Jennifer Kendrick, Roxane Carr
{"title":"Public funding for paediatric medications in Canada.","authors":"Grace Chen, Junu Choe, Jennifer Kendrick, Roxane Carr","doi":"10.1093/pch/pxag039","DOIUrl":"https://doi.org/10.1093/pch/pxag039","url":null,"abstract":"<p><strong>Objectives: </strong>To describe public funding of paediatric medications across Canada, including variability between jurisdictions and restrictions based on age or medication formulation.</p><p><strong>Methods: </strong>A scoping review was conducted using a list of paediatric medications that was generated from the World Health Organization Pediatric Essential Medicines List and the British Columbia Children's Hospital Drug Dosage Guidelines. Formularies from 14 federal, provincial, and territorial drug plans were analyzed. Data collected included medication listing status, age, and indication-based restrictions, formulation availability, and special authority requirements. Descriptive statistics were used for analysis.</p><p><strong>Results: </strong>On average, 70% of essential paediatric medications were publicly funded in Canada, with significant interjurisdictional variation (35% in Yukon to 87.2% under the Non-Insured Health Benefits [NIHB]). Approximately 13% of medications required special authority. Age- and indication-specific restrictions were uncommon. Funding for paediatric formulations such as liquids and chewables was less available than for tablet and capsule formulations. Territories with unique formulary structures, such as Yukon and Nunavut, showed more limited coverage than other jurisdictions.</p><p><strong>Conclusions: </strong>Approximately 20% of paediatric medications lack public funding. There is a geographic disparity in access. Universal pharmacare and mandatory inclusion of paediatric data in drug submissions are needed to ensure equitable access. Findings highlight the urgency for national strategies to close paediatric drug coverage gaps and support consistent, child-friendly medication access across Canada.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 6","pages":"654-661"},"PeriodicalIF":2.5,"publicationDate":"2026-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13580627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148990975","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
Correction to: Transfer practices and outcomes for suspected appendicitis from community hospitals to a paediatric tertiary emergency department. 更正:将疑似阑尾炎的做法和结果从社区医院转移到儿科三级急诊科。
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-06-10 eCollection Date: 2026-07-01 DOI: 10.1093/pch/pxag057
{"title":"Correction to: Transfer practices and outcomes for suspected appendicitis from community hospitals to a paediatric tertiary emergency department.","authors":"","doi":"10.1093/pch/pxag057","DOIUrl":"10.1093/pch/pxag057","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1093/pch/pxaf081.].</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 5","pages":"562"},"PeriodicalIF":2.5,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13382884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148606039","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
Assessing children and youth with global developmental delay and intellectual developmental disorder. 评估儿童和青少年的全面发展迟缓和智力发展障碍。
IF 2.5 4区 医学
Paediatrics & child health Pub Date : 2026-06-08 eCollection Date: 2026-09-01 DOI: 10.1093/pch/pxag032
Scott McLeod, Anne Kawamura, Angela Orsino
{"title":"Assessing children and youth with global developmental delay and intellectual developmental disorder.","authors":"Scott McLeod, Anne Kawamura, Angela Orsino","doi":"10.1093/pch/pxag032","DOIUrl":"https://doi.org/10.1093/pch/pxag032","url":null,"abstract":"<p><p>The paediatric health care provider (HCP) plays a pivotal role in the care of children with global developmental delay (GDD) and intellectual developmental disorder (IDD). This role encompasses early detection of developmental concerns, guiding families through the diagnostic process, coordinating care with other HCPs and educators, and ensuring that appropriate interventions are accessed. A comprehensive review of the medical history, completion of a thorough physical assessment, and the initiation of a genomic investigation-depending on clinical indications and available resources-are the mainstays for assessing children with GDD/IDD. Metabolic testing is only recommended in specific circumstances, which are briefly described.</p>","PeriodicalId":19730,"journal":{"name":"Paediatrics & child health","volume":"31 6","pages":"690-697"},"PeriodicalIF":2.5,"publicationDate":"2026-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13580630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991040","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
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