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Kinematic Changes throughout Childhood in Youth with Cerebral Palsy: Influence of Age and Orthopaedic Surgery. 脑瘫青少年童年时期的运动变化:年龄和矫形手术的影响。
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-15 DOI: 10.3390/children11101240
Nancy Lennon, Chris Church, Daniel Wagner, Tim Niiler, John Henley, Freeman Miller, Michael Wade Shrader, Jason J Howard

Background: Abnormal gait kinematics are common in youth with cerebral palsy (CP), but prior studies have not analyzed their longitudinal change throughout childhood. This study examines how age and orthopaedic surgery influence gait kinematics throughout childhood in those with ambulatory CP.

Methods: In this institutional review board-approved prospective cohort study, children with spastic CP (GMFCS I-III) were recruited at age 17-40 months. Instrumented gait analysis was performed at 3-year intervals from age 4 to 21 years, collecting longitudinal kinematic data in bare feet at a self-selected speed. The change in Gait Profile Score (ΔGPS) between each pair of gait analyses (intervals) was analyzed by age distribution (<10, 10-15, ≥15 years) and by presence/absence of orthopaedic surgery.

Results: The study included 31 children (GMFCS: I [13], II [14], III [4]). A baseline instrumented gait analysis was performed at age 5.8 ± 1.6 years with subsequent analysis at 2.5 ± 1.3-year intervals. Examining ΔGPS from baseline to final outcome, 87% of limbs were improved/unchanged; 298 intervals of ΔGPS were analyzed and classified as nonsurgical or surgical. Analysis revealed greater GPS improvement in intervals with surgery versus intervals without (p = 0.0004). Surgical intervals had significantly greater GPS improvement in the <10- vs. >15-year-old groups, p = 0.0063.

Conclusions: Improvement in gait kinematics in children with CP is significantly influenced by age and timing of orthopaedic surgical intervention for gait correction, and was most pronounced for children <10 years old. Although surgery was associated with improved outcomes in all age groups, these improvements were significantly less for children >10 years old. These results reinforce the importance of considering the timing of orthopaedic surgery.

背景:步态运动异常在患有脑性瘫痪(CP)的青少年中很常见,但之前的研究并未对其在整个儿童期的纵向变化进行分析。本研究探讨了年龄和矫形手术如何影响行动不便的 CP 患者在整个儿童期的步态运动学:在这项经机构审查委员会批准的前瞻性队列研究中,招募了 17-40 个月大的痉挛性 CP(GMFCS I-III)患儿。从 4 岁到 21 岁,每隔 3 年进行一次仪器步态分析,收集以自选速度光脚行走的纵向运动学数据。按年龄分布分析了每对步态分析(间隔)之间步态轮廓评分(ΔGPS)的变化(结果:研究包括 31 名儿童(GMFCS:I [13]、II [14]、III [4])。在 5.8 ± 1.6 岁时进行了基线仪器步态分析,随后每隔 2.5 ± 1.3 年进行一次分析。对从基线到最终结果的ΔGPS进行了检查,87%的肢体得到了改善/改变;对298个ΔGPS间隔进行了分析,并将其分为非手术和手术两种。分析结果表明,手术间期与非手术间期相比,GPS改善程度更大(P = 0.0004)。在15岁组中,手术间隔的GPS改善幅度明显更大,p = 0.0063:CP患儿步态运动学的改善受年龄和矫形手术干预步态矫正时机的显著影响,10岁儿童的改善最为明显。这些结果强化了考虑矫形手术时机的重要性。
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引用次数: 0
Perceived Experiences of Families of Children with Unilateral Cerebral Palsy in the Implementation of a Task-Specific Intervention in the Home Environment with an Upper Limb Splint: A Qualitative Study. 单侧脑瘫儿童家庭在家庭环境中使用上肢夹板实施特定任务干预时的感知体验:定性研究。
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-15 DOI: 10.3390/children11101242
Patricia Roldán-Pérez, Vanesa Abuín-Porras, Isabel Rodríguez-Costa, María Ortiz-Lucas, Pablo Bellosta-López, Almudena Buesa-Estéllez

Introduction: Specific home tasks and the use of splints seem to positively affect altered structures and functions, as well as the activities and participation, of children with unilateral cerebral palsy (UCP). However, how did families experience the implementation of these therapies?

Objective: To describe the experiences as they were perceived by the families of children with UCP before, during, and after a specific task intervention in the home environment, either with or without upper limb splinting.

Methods: A qualitative, descriptive, phenomenological study was conducted in a natural environment. Fourteen families caring for children with UCP who participated in a previous randomized controlled trial were included. Data from unstructured and semi-structured interviews were analyzed through a thematic analysis.

Results: Fourteen families (17 parents, age 37-47 years) caring for children with UCP (14 children, ages 6-10 years, 64% female) were interviewed. The following three themes emerged: "The project itself", in which families explained that they enrolled because of their trust in therapists; "Results obtained", where the main improvement was the integration of the assisting hand in the body schema; and "Lights and shadows", where families showed what they learned as positive points and some negative aspects related to the assessments and splints.

Conclusions: The perceptions of the parents after the specific task intervention in the home environment showed a greater integration of the most affected side. Nevertheless, although the support of a splint on the hand can have beneficial results in terms of performance, other drawbacks leading to the disuse of the splint were highlighted.

导言:特定的家庭任务和夹板的使用似乎对单侧大脑性麻痹(UCP)儿童的结构和功能改变以及活动和参与产生了积极影响。然而,家庭是如何体验这些疗法的?描述单侧脑瘫儿童的家人在家庭环境中进行特定任务干预之前、期间和之后所感受到的体验,无论是否使用上肢夹板:在自然环境中进行了一项定性、描述性、现象学研究。研究对象包括 14 个照顾 UCP 患儿的家庭,这些家庭曾参加过一项随机对照试验。通过主题分析法对非结构化和半结构化访谈的数据进行了分析:对 14 个照顾 UCP 儿童的家庭(17 位家长,年龄在 37-47 岁之间)(14 名儿童,年龄在 6-10 岁之间,64% 为女性)进行了访谈。出现了以下三个主题:在 "项目本身 "中,家庭解释说,他们报名参加是因为对治疗师的信任;在 "取得的成果 "中,主要的改进是将辅助手纳入了身体图式;在 "光与影 "中,家庭展示了他们学到的与评估和夹板相关的积极方面和消极方面:结论:在家庭环境中对特定任务进行干预后,家长们的感受表明,受影响最严重的一侧得到了更大程度的整合。尽管如此,虽然手部夹板的支持可以在表现方面产生有益的结果,但也强调了导致不使用夹板的其他缺点。
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引用次数: 0
Developmental Profile of Children with Autism Spectrum Disorder Versus Social Communication Disorder: A Pilot Study. 自闭症谱系障碍儿童与社交沟通障碍儿童的发育概况:试点研究
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-15 DOI: 10.3390/children11101241
Clara Dame, Marine Viellard, Sara-Nora Elissalde, Hugo Pergeline, Pauline Grandgeorge, Laure-Anne Garie, Federico Solla, Sonia De Martino, Elodie Avenel, Xavier Salle-Collemiche, Arnaud Fernandez, François Poinso, Elisabeth Jouve, Jokthan Guivarch

Background: Social Communication Disorder (SCD), introduced in the DSM-5, is distinguished from Autism Spectrum Disorder (ASD) by the absence of restricted and repetitive behaviors or interests (RRBIs).

Aim: To compare the adaptive, sensory, communication, and cognitive profiles of children with ASD and SCD.

Methods: The assessments of nine children with SCD and ten with ASD were compared with either Fisher's Exact Test or the Mann-Whitney Test. Assessments included the Vineland Adaptive Behavior Scales, the Autism Diagnostic Observation Schedule (ADOS), the Short Sensory Profile, Bishop's Children's Communication Checklist, a pragmatics evaluation, and the Wechsler Intelligence Scale for Children IV.

Results: The total ADOS score and the second subtotal "Restricted and Repetitive Behaviors" were significantly higher (p = 0.022) in the ASD group than in the SCD group. The Vineland standard score for the "Socialization" domain was significantly lower (p = 0.037) in the ASD group (mean: 51 +/- 19) than in the SCD group (mean: 80 +/- 28). The working memory index score was also significantly lower (p = 0.013) in the ASD group compared to the SCD group.

Conclusions: While ASD and SCD share similarities in communication and pragmatic difficulties, some distinctions have been identified, e.g. in executive functioning and the impact on socialization, which may be linked to the absence of RRBIs in SCD. These findings highlight the challenges posed by this nosographic separation during diagnostic evaluations due to the scarcity of discriminative tools.

背景:目的:比较自闭症儿童和社交沟通障碍儿童在适应、感官、沟通和认知方面的情况:方法:采用费雪精确检验法或曼-惠特尼检验法对九名 SCD 儿童和十名 ASD 儿童的评估结果进行比较。评估内容包括维尼兰适应行为量表、自闭症诊断观察表(ADOS)、感官简表、毕晓普儿童交流检查表、语用学评估和韦氏儿童智力量表 IV:ASD组的ADOS总分和第二项小计 "受限和重复行为 "明显高于SCD组(P = 0.022)。ASD 组 "社交 "领域的维尼兰标准分(平均值:51 +/- 19)明显低于 SCD 组(平均值:80 +/-28)(p = 0.037)。与 SCD 组相比,ASD 组的工作记忆指数得分也明显较低(p = 0.013):虽然 ASD 和 SCD 在沟通和实用困难方面有相似之处,但也发现了一些区别,例如在执行功能和对社交的影响方面,这可能与 SCD 缺乏 RRBIs 有关。这些研究结果突显了在诊断评估过程中,由于缺乏鉴别工具,这种命名上的分离所带来的挑战。
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引用次数: 0
Clinical Utility of a Multiplex PCR Panel (BioFire Joint Infection®) in the Adjustment of Empiric Antimicrobial Therapy: Experience in Pediatric Osteoarticular Infections. 多重 PCR 检测组(BioFire Joint Infection®)在调整经验性抗菌治疗中的临床实用性:小儿骨关节感染的经验。
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-14 DOI: 10.3390/children11101236
Clara Udaondo, Rosa María Alcobendas Rueda, Blanca Diaz-Delgado, Agustin Remesal, Inmaculada Quiles-Melero, Cristina Calvo

Background/objectives: This study aims to evaluate the impact of the PCR multiplex panel (BioFire JI®) on the diagnosis and management of pediatric osteoarticular infections.

Methods: This retrospective study analyzed data from pediatric patients diagnosed with osteoarticular infections between January 2023 and April 2024. The effectiveness of the PCR multiplex panel in identifying pathogens was compared with traditional culture methods.

Results: In total, 50 patients were identified (66.6% male, 74% under 3 years of age). They were diagnosed as follows: septic arthritis in 46%, osteomyelitis in 26%, and septic osteoarthritis in 22%. An identifiable agent was isolated by conventional culture in 22 cases (44%). Kingella kingae was the predominant pathogen identified, accounting for 50% of cases (11/22), followed by Staphylococcus aureus (9/22). The BioFire JI® Panel PCR demonstrated a sensitivity of 93%, with a specificity of 63% when evaluated against synovial fluid culture as the reference standard. The panel identified seven additional pathogens not detected by conventional culture methods: 2/9 MSSA (22%), 1/1 S. pyogenes (100%), and 4/11 K. kingae (37%), increasing the yield by 14%. The rapid identification of pathogens facilitated timely and targeted therapeutic interventions.

Conclusions: The PCR multiplex panel (BioFire JI®) improved the diagnosis of pediatric osteoarticular infections.

背景/目的:本研究旨在评估 PCR 多反应面板(BioFire JI®)对小儿骨关节感染诊断和管理的影响:这项回顾性研究分析了 2023 年 1 月至 2024 年 4 月期间诊断为骨关节感染的儿科患者的数据。结果:共有 50 名患者被确诊为骨关节感染(其中 1 人死亡,1 人重症监护):共发现 50 名患者(66.6% 为男性,74% 年龄在 3 岁以下)。诊断结果如下:化脓性关节炎占 46%,骨髓炎占 26%,化脓性骨关节炎占 22%。有 22 例(44%)通过常规培养分离出了可确定的病原体。王氏菌是主要的病原体,占病例数的 50%(11/22),其次是金黄色葡萄球菌(9/22)。BioFire JI® Panel PCR 的灵敏度为 93%,与滑液培养作为参考标准相比,特异性为 63%。该小组还鉴定出了 7 种传统培养方法未检测到的病原体:2/9 种 MSSA(22%)、1/1 种 S.pyogenes(100%)和 4/11 种 K.kingae(37%),使鉴定率提高了 14%。病原体的快速鉴定有助于及时采取有针对性的治疗措施:结论:PCR多重检测板(BioFire JI®)提高了小儿骨关节感染的诊断率。
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引用次数: 0
Obstacles to an Effective Transition to Adult Services for Patients with Hirschsprung Disease. 赫氏胃肠病患者有效过渡到成人服务的障碍。
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-14 DOI: 10.3390/children11101237
Joseph R Davidson, Joe Curry

A growing number of patients with Hirschsprung disease are reaching adulthood, of whom a significant minority will require ongoing input from healthcare providers. In order to ensure patients receive the best care possible, it is essential to transition patients appropriately to adult services. This article describes the unmet need and some of the obstacles to this process and explores potential solutions, drawing on model examples for transitional care.

越来越多的赫氏胃肠病患者步入成年,其中有相当一部分需要医疗服务提供者的持续帮助。为了确保患者得到尽可能最好的治疗,必须将患者适当过渡到成人服务。本文介绍了这一过程中尚未满足的需求和存在的一些障碍,并借鉴过渡护理的示范案例,探讨了潜在的解决方案。
{"title":"Obstacles to an Effective Transition to Adult Services for Patients with Hirschsprung Disease.","authors":"Joseph R Davidson, Joe Curry","doi":"10.3390/children11101237","DOIUrl":"10.3390/children11101237","url":null,"abstract":"<p><p>A growing number of patients with Hirschsprung disease are reaching adulthood, of whom a significant minority will require ongoing input from healthcare providers. In order to ensure patients receive the best care possible, it is essential to transition patients appropriately to adult services. This article describes the unmet need and some of the obstacles to this process and explores potential solutions, drawing on model examples for transitional care.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11506805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510693","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
Predictors of Social Exclusion among Adolescents: The Weight of Physical Self-Concept Dimensions. 青少年被社会排斥的预测因素:身体自我概念维度的重要性
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-14 DOI: 10.3390/children11101235
Rosa González-Delgado, Antonio J Rodríguez-Hidalgo, Rosario Ortega-Ruiz, Juan de Dios Benítez-Sillero, Javier Murillo-Moraño

Background: Social exclusion victimization among adolescents causes significant damage and harm to development and social balance. Many of the aggressions that lead to this are based on social stigmas, particularly related to physical appearance in school settings involving physical and sports activities. This study investigates the relationship between victimization through social exclusion (both manifest and subtle forms) and physical self-concept, specifically examining ability, attractiveness, physical condition, and strength. Methods: A total of 876 adolescents (mean age = 14.91; standard deviation = 1.71 years), evenly divided between boys and girls, from secondary schools in Andalusia, Spain participated. They completed a self-report questionnaire assessing physical abilities, attractiveness, physical condition, and self-perceived strength, alongside an instrument measuring experiences of social exclusion and manifest exclusion. Results: Our findings indicate that physical ability, attractiveness, and condition are negative statistical predictors of both manifest and subtle exclusion victimization, while self-perceived strength is a statistical predictor of subtle exclusion. Manifest exclusion impacts both genders similarly, but girls are more vulnerable to subtle forms of exclusion. Regardless of gender, physical ability and attractiveness significantly predict both types of exclusion. Conclusions: Our results highlight the importance of physical self-concept for wellbeing and maintaining self-concept balance. The inclusion of interventions addressing social exclusion in physical education is crucial, particularly those that work to mitigate social stigmas against adolescents who struggle in physical or sporting activities. A gender-sensitive approach should also be incorporated. The growing field of research on adolescent social exclusion, both manifest and subtle, underscores the need for further exploration of its links to physical condition, physical activity, self-perception, and societal stereotypes.

背景:青少年中的社会排斥伤害对他们的发展和社会平衡造成了巨大的损害和伤害。导致这种情况的许多攻击行为都是基于社会鄙视,特别是在涉及体育活动的学校环境中与外貌有关的攻击行为。本研究调查了通过社会排斥(包括显性和隐性形式)造成的伤害与身体自我概念之间的关系,特别是在能力、吸引力、身体状况和力量方面。研究方法共有 876 名来自西班牙安达卢西亚中学的青少年(平均年龄 = 14.91 岁;标准差 = 1.71 岁)参加了调查,其中男女生各占一半。他们填写了一份自我报告问卷,评估体能、吸引力、身体状况和自我感觉的力量,同时还填写了一份测量社会排斥和明显排斥经历的问卷。结果我们的研究结果表明,体能、吸引力和身体状况在统计学上对明显和微妙的排斥受害都有负面的预测作用,而自我感觉的力量在统计学上对微妙的排斥有预测作用。显性排斥对男女两性的影响相似,但女孩更容易受到隐性排斥的伤害。无论性别如何,体能和吸引力都能显著预测这两种类型的排斥。结论:我们的研究结果凸显了身体自我概念对健康和保持自我概念平衡的重要性。在体育教育中纳入解决社会排斥问题的干预措施至关重要,尤其是那些致力于减轻社会对在体育活动中挣扎的青少年的鄙视的干预措施。还应采取对性别问题有敏感认识的方法。有关青少年社会排斥(包括明显的和微妙的)的研究领域不断扩大,这突出表明有必要进一步探讨社会排斥与身体状况、体育活动、自我认知和社会成见之间的联系。
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引用次数: 0
Childhood Hypertension: A Retrospective Analysis of Causes, Treatments, and Complications. 儿童高血压:病因、治疗和并发症的回顾性分析。
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-14 DOI: 10.3390/children11101234
Mohamed S Al Riyami, Aisha Al Shuaibi, Suad Al Jardani, Asma Elfar, Anisa Al Maskari, Badria Al Gaithi, Sulaiman Al Saidi, Naifain Al Kalbani

Background: Hypertension is prevalent in the pediatric population, with estimated rates between 2% and 5%, and its incidence is rising globally. This study offers a single-center analysis of hypertension in children.

Methods: a retrospective chart review was conducted involving children aged 1 month to 13 years diagnosed with hypertension.

Results: The study included a total of 129 children. Secondary hypertension was identified in 103 patients (79.8%), while primary hypertension was noted in 26 patients (20.2%). Primary hypertension was more common among pre-teen children (50.0%), whereas secondary hypertension predominantly affected those aged 1 to 5 years. Renal parenchymal disease emerged as the most frequent etiology of secondary hypertension, followed by endocrine disorders and vascular issues. No significant correlation was found between hypertension and obesity. The primary complications associated with hypertension in these children were cardiovascular, followed by neurological issues. A small proportion (14.7%) managed their hypertension solely through lifestyle modifications, while the majority required additional antihypertensive medications. At the final follow-up, 50% of the children demonstrated improved blood pressure readings.

Conclusion: The findings indicate a higher prevalence of secondary hypertension compared to primary hypertension among the studied population. This study underscores the necessity for heightened awareness among pediatricians regarding the early identification and management of hypertension. Larger population-based studies are warranted to further investigate the prevalence, causes, and outcomes of hypertension in this region.

背景:高血压在儿科人群中很普遍,估计发病率在 2% 到 5% 之间,而且发病率在全球范围内呈上升趋势。本研究对儿童高血压进行了单中心分析。方法:对确诊为高血压的 1 个月至 13 岁儿童进行了回顾性病历审查:研究共纳入 129 名儿童。103名患者(79.8%)被确诊为继发性高血压,26名患者(20.2%)被确诊为原发性高血压。原发性高血压更常见于十岁前的儿童(50.0%),而继发性高血压主要影响 1 至 5 岁的儿童。肾实质疾病是继发性高血压最常见的病因,其次是内分泌失调和血管问题。高血压与肥胖之间没有明显的相关性。这些儿童高血压的主要并发症是心血管疾病,其次是神经系统疾病。一小部分患儿(14.7%)仅通过改变生活方式来控制高血压,而大部分患儿则需要额外服用降压药物。在最后的随访中,50%的儿童血压读数有所改善:研究结果表明,在研究人群中,继发性高血压的发病率高于原发性高血压。这项研究强调,儿科医生有必要提高对高血压的早期识别和管理意识。有必要进行更大规模的人群研究,以进一步调查该地区高血压的患病率、原因和结果。
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引用次数: 0
The Experiences of Motor Skill Development in Children with Autism Spectrum Disorder (ASD) Reflected through Parental Responses. 通过父母的反应反映自闭症谱系障碍(ASD)儿童运动技能发展的经历。
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-14 DOI: 10.3390/children11101238
Anetta Müller, Éva Bácsné Bába, Peter Židek, Attila Lengyel, Judit Herpainé Lakó, Nóra Laoues-Czimbalmos, Anikó Molnár, Eszter Boda

Background/Objectives: Understanding movement development in children with autism spectrum disorder (ASD) is critical for creating effective intervention strategies. This study aims to explore parental perspectives on the movement development of children with ASD, focusing on identifying common challenges and successful strategies. The objective is to analyze the experiences of parents to highlight the most effective approaches to support motor, communication, and social skills development in these children. Methods: Using a qualitative approach, we conducted in-depth interviews with parents of children with ASD. The data were analyzed using open and selective coding to identify key themes related to movement development challenges and strategies. The analysis included cross-referencing with the existing literature to support parental insights. Results: This study identified several key themes, including communication barriers, social interaction difficulties, and the importance of personalized movement programs. Parents reported significant challenges in understanding and addressing their children's movement needs, particularly in group settings. However, activities such as water programs, music and dance, and animal-assisted therapies were found to be highly engaging. Motivation was a critical factor, with rewards and active parental involvement enhancing participation. Conclusions: This study highlights the crucial role of a supportive environment, including professional guidance and family support, in the success of movement development programs.

背景/目标:了解自闭症谱系障碍(ASD)儿童的动作发展对于制定有效的干预策略至关重要。本研究旨在探讨家长对自闭症谱系障碍儿童动作发展的看法,重点是确定常见的挑战和成功的策略。目的是分析家长的经验,以突出支持这些儿童运动、沟通和社交技能发展的最有效方法。方法:我们采用定性方法,对 ASD 儿童的家长进行了深入访谈。我们使用开放式和选择性编码对数据进行了分析,以确定与运动发展挑战和策略相关的关键主题。分析包括与现有文献的交叉引用,以支持家长的见解。结果:本研究确定了几个关键主题,包括沟通障碍、社交互动困难以及个性化运动计划的重要性。家长们表示,在理解和满足孩子的运动需求方面面临着巨大挑战,尤其是在集体环境中。但研究发现,水上项目、音乐和舞蹈以及动物辅助疗法等活动非常吸引人。动机是一个关键因素,奖励和家长的积极参与会提高参与度。结论:本研究强调了支持性环境(包括专业指导和家庭支持)在运动发展计划成功中的关键作用。
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引用次数: 0
Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience. 心律失常可能隐藏着儿童左心室肥厚的遗传性心肌病:单中心经验。
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-13 DOI: 10.3390/children11101233
Irma Battipaglia, Nicoletta Cantarutti, Marianna Cicenia, Rachele Adorisio, Virginia Battista, Anwar Baban, Massimo Stefano Silvetti, Fabrizio Drago

Background: Left ventricular hypertrabeculation (LVHT) is a myocardial disorder with different clinical manifestations, from total absence of symptoms to heart failure, arrhythmias, sudden cardiac death (SCD), and thromboembolic events. It is challenging to distinguish between the benign and pathological forms of LVHT. The aim of this study was to describe the arrhythmic manifestations of LVHT in a large group of pediatric patients and to correlate them with genetic results or other clinical markers.

Methods: We retrospectively enrolled 140 pediatric patients with diagnosis of LVHT followed at our Institution from 2013 to 2023. Data regarding family history, instrumental exams, cardiac magnetic resonance, genetic testing and outcomes were collected. Most of them had isolated LVHT (80.7%); in other patients, mixed phenotypes (hypertrophic or dilated cardiomyopathy or congenital heart disease) were present.

Results: Arrhythmias were found in 33 children (23.6%): 13 (9.3%) supraventricular tachyarrhythmias; 14 (10%) ventricular arrhythmias (five frequent PVCs (premature ventricular contractions), eight patients with ventricular tachycardia (VT), one ventricular fibrillation (VF)); two (1.4%) sinus node disfunctions; two (1.4%) complete atrio-ventricular blocks (AVB), three (2.1%) paroxysmal complete AVB, one (0.7%) severe I degree AVB. Three patients received an ICD (implantable cardioverter defibrillator). Comparison between LVHT patients with (33 pts) and without (107 pts) arrhythmias as regards genetic testing showed a statistical significance for the presence of class 4 or 5 genetic variants and arrhythmic manifestation (p = 0.037).

Conclusions: In our pediatric cohort with LVHT, good outcomes were observed, but arrhythmias were not so rare (23.6%); no SCD occurred.

背景:左心室肥厚(LVHT)是一种心肌疾病,具有不同的临床表现,从完全无症状到心力衰竭、心律失常、心脏性猝死(SCD)和血栓栓塞事件。区分良性和病理性左心室高血压是一项挑战。本研究的目的是描述一大群儿科患者的左心室积水症心律失常表现,并将其与遗传结果或其他临床标记物联系起来:我们回顾性地纳入了2013年至2023年期间在我院就诊的140名确诊为左心室高血压的儿科患者。收集了有关家族史、仪器检查、心脏磁共振、基因检测和结果的数据。结果显示,大多数患者(80.7%)为孤立的左心室积水;其他患者则为混合表型(肥厚型或扩张型心肌病或先天性心脏病):33名儿童(23.6%)出现心律失常:13例(9.3%)室上性心动过速;14例(10%)室性心律失常(5例频发PVC(室性早搏),8例室性心动过速(VT),1例心室颤动(VF));2例(1.4%)窦房结失常(1.5%);2例(1.5%)室性心动过速(1.5%);1例(1.5%)室性心动过速(1.5%)。4%)窦房结功能紊乱;两例(1.4%)完全性房室传导阻滞(AVB),三例(2.1%)阵发性完全性房室传导阻滞,一例(0.7%)严重的 I 度房室传导阻滞。三名患者接受了 ICD(植入式心律转复除颤器)治疗。对有心律失常(33 例)和无心律失常(107 例)的 LVHT 患者进行基因检测后发现,4 类或 5 类基因变异与心律失常表现之间存在统计学意义(P = 0.037):在我们的 LVHT 儿童队列中,观察到了良好的预后,但心律失常并不罕见(23.6%);没有发生 SCD。
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引用次数: 0
Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview. 一名严重 CYP11A1 (P450scc) 缺陷患者的原发性肾上腺功能不全、完全性逆转和独特临床表型--病例报告和文献综述。
IF 2 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-12 DOI: 10.3390/children11101231
Zuzanna Nowak, Ewelina Preizner-Rzucidło, Jakub Gawlik, Jerzy B Starzyk, Dominika Januś

Background: Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that lead to the dysfunction of the steroidogenesis pathway, resulting in steroid hormone deficiency of varied intensity. The cholesterol side-chain cleavage enzyme (P450scc), coded by the CYP11A1 gene, is vital to the first step in the biosynthesis of steroid hormones, which is the conversion of cholesterol to pregnenolone. Therefore, its deficiency causes a general steroid hormone shortage.

Objective: We report a case of CAH caused by P450scc deficiency with complete 46, XY sex reversal, characteristic facial features (narrow middle section of the face, small ears with thick helix, fleshy upturned lobules), and dysmorphic macrocephaly along with shortened upper and lower extremities.

Results: Our patient carries a compound heterozygotic pathogenic variant of the CYP11A1 gene, with two frameshift pathogenic variants NM_000781.3(CYP11A1):c.358del (p.Arg120Aspfs*18) in exon 2 and NM_000781.3(CYP11A1):c.835del (p.Ile279Tyrfs*10) in exon 5. To date, only around 50 cases with CYP11A1 pathogenic variants have been reported worldwide. We believe this is the first described case of a newborn with severe, classic P450scc deficiency in Poland.

Conclusions: CYP11A1 (P450scc) deficiency is a rare and complex disorder that leads to primary adrenal insufficiency and may present with 46, XY disorders of sex development (DSD), phenotypic variations, and associated endocrinological abnormalities. This case, along with others cited, highlights the diverse presentations of DSD in individuals with pathogenic CYP11A1 variants. Optimal management necessitates a multidisciplinary approach by a specialized DSD team. Gonadectomy is a key consideration to decrease the teratogenic risk associated with intra-abdominal gonadal tissue.

背景:先天性肾上腺皮质增生症(CAH)是一组遗传性疾病,可导致类固醇生成途径功能障碍,造成不同程度的类固醇激素缺乏。由 CYP11A1 基因编码的胆固醇侧链裂解酶(P450scc)对类固醇激素生物合成的第一步--胆固醇转化为孕烯醇酮--至关重要。因此,缺乏该基因会导致类固醇激素的普遍缺乏:我们报告了一例由 P450scc 缺乏引起的 CAH 病例,该病例伴有完全的 46 XY 性别反转、特征性面部特征(面部中段狭窄、小耳朵带厚螺旋、肉质上翘小叶)、畸形性巨头畸形以及上下肢短小:结果:我们的患者携带CYP11A1基因的复合杂合致病变体,其中第2外显子有两个移帧致病变体NM_000781.3(CYP11A1):c.358del(p.Arg120Aspfs*18),第5外显子有两个移帧致病变体NM_000781.3(CYP11A1):c.835del(p.Ile279Tyrfs*10)。迄今为止,全世界仅报道了约 50 例 CYP11A1 致病变体病例。我们认为,这是波兰首例描述的新生儿严重典型 P450scc 缺乏症病例:结论:CYP11A1(P450scc)缺乏症是一种罕见的复杂疾病,可导致原发性肾上腺功能不全,并可能伴有46、XY性别发育障碍(DSD)、表型变异和相关的内分泌异常。本病例和其他病例都突出显示了具有致病性 CYP11A1 变体的个体在 DSD 中的不同表现。最佳治疗方法需要由专业的 DSD 团队采取多学科方法。性腺切除术是降低腹腔内性腺组织致畸风险的关键考虑因素。
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Children-Basel
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