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Prenatal Substance Exposure and Positive Developmental Delay Screening Among Patients in Foster Care. 寄养患者产前物质暴露与阳性发育迟缓筛查。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-06-19 DOI: 10.1097/DBP.0000000000001383
Lauren Q Malthaner, Jill D McLeigh, Gregory Knell, Katelyn K Jetelina, Folefac Atem, Sarah E Messiah

Objective: Prenatal substance exposure (PSE) is a known risk factor for negative birth outcomes and long-term health outcomes like neurodevelopmental problems. Children in foster care have increased exposure to PSE and higher proportions of developmental delay compared with the general population. It is unclear whether differences still exist among developmental delay screening among children in foster care with and without PSE.

Methods: Data were extracted from patient medical records of a primary care clinic for children in foster care between January 1, 2018, and December 31, 2021. Cox proportional hazards regression generated hazard of positive developmental delay screening using the Ages and Stages Questionnaire-3 among those who with and without PSE controlling for sex, race, ethnicity, prematurity, caregiver type, as well as interaction between PSE and prematurity and PSE and race.

Results: The sample included 975 patients. 60.4% had PSE, and 62.6% had a positive developmental delay screening at least once. 52.9% were male, and 45.5% were White. Those who had PSE but were nonpremature had 1.14 (95% confidence interval, 1.01-1.29) times the hazard of positive developmental delay screening compared with those without PSE and prematurity. However, those with PSE and prematurity had 2.01 times the hazard of positive developmental delay screening than those without either condition.

Conclusion: Children in foster care with PSE are at risk for positive developmental delay screening compared with those without; however, those with both PSE and prematurity are at extra risk. This interaction should be considered when making inferences regarding developmental delay screening in this population.

目的:产前物质暴露(PSE)是已知的负面出生结果和长期健康结果(如神经发育问题)的危险因素。与一般人群相比,寄养儿童暴露于PSE的几率更高,发育迟缓的比例也更高。目前尚不清楚在有和没有PSE的寄养儿童中,发育迟缓筛查是否仍然存在差异。方法:数据提取自2018年1月1日至2021年12月31日期间寄养儿童初级保健诊所的患者病历。对照性别、种族、民族、早产、照顾者类型以及PSE与早产、PSE与种族之间的相互作用,采用年龄与阶段问卷-3对有PSE和无PSE的儿童进行发育迟缓筛查,Cox比例风险回归产生了阳性风险。结果:共纳入975例患者。60.4%患有PSE, 62.6%至少有一次发育迟缓筛查阳性。男性占52.9%,白人占45.5%。患有PSE但未早产的患者的发育迟缓筛查阳性风险是没有PSE和早产的患者的1.14倍(95%可信区间为1.01-1.29)。然而,有PSE和早产的儿童发育迟缓筛查阳性的风险是没有这两种情况的儿童的2.01倍。结论:寄养家庭中患有PSE的儿童与未患有PSE的儿童相比存在发育迟缓筛查阳性的风险;然而,那些同时患有PSE和早产的人有额外的风险。在对这一人群进行发育迟缓筛查时,应考虑到这种相互作用。
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引用次数: 0
In Their Own Words: Qualitative Study of Parenting During the COVID-19 Pandemic. 用他们自己的话说:COVID-19大流行期间父母养育的定性研究。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-06-17 DOI: 10.1097/DBP.0000000000001363
Quinn Tucker, Robert Sege, Allison Stephens, Twinkle Suthar, Eliza Loren Purdue, Charlyn Harper Browne, Dina Burstein

Objective: The authors aimed to understand the experience of parents and caregivers during COVID-19, including the challenges they faced and what helped them cope using the Strengthening Families (SF) Approach and Protective Factors Framework's five factors: parental resilience, social connections, knowledge of parenting and child development, concrete support in times of need, and social and emotional competence of children.

Methods: The Family Snapshot Survey was developed to assess the impact of COVID-19 on family life, including items for quantitative analysis and 2 open-ended responses. This national survey of 9000 parents recruited from an opt-in internet panel was conducted in 3 waves of 3000 in November 2020, February 2021, and July 2021 using the online YouGov platform. The 2 open-ended responses are analyzed here using qualitative thematic analysis based on the SF Approach and Protective Factors Framework for caregivers with children aged 0 to 5 years.

Results: The SF factors were used to classify 770 responses, with many responses identified as containing multiple factors, representing their interrelated nature. A lack of concrete support was the most frequent challenge, and parental resilience was the most frequent support.

Conclusion: Access or lack of access to concrete support in times of need underscored many of the strengths and challenges, respectively. Participants described interactions between individual protective factors that allowed for safety, stability, or positive experiences. In future community policy creation, policymakers may look at how programs interact and allow families to access multiple protective factors at once, with a critical need for providing these concrete supports.

目的:作者旨在了解父母和照顾者在2019冠状病毒病期间的经历,包括他们面临的挑战,以及如何帮助他们利用“加强家庭”方法和保护因素框架的五个因素应对挑战:父母的复原力、社会联系、育儿和儿童发展知识、需要时的具体支持以及儿童的社交和情感能力。方法:制定《家庭快照调查》,评估新冠肺炎对家庭生活的影响,包括定量分析项目和2个开放式回答。这项全国范围的调查是通过YouGov在线平台在2020年11月、2021年2月和2021年7月分三次对9000名家长进行的。本文采用基于SF方法和保护因素框架的定性专题分析,对有0至5岁儿童的照顾者的两个开放式回答进行分析。结果:利用SF因子对770个响应进行分类,发现许多响应包含多个因子,代表了它们之间的相互关联性。缺乏具体的支持是最常见的挑战,而父母的韧性是最常见的支持。结论:在需要时获得或缺乏具体支持分别凸显了许多优势和挑战。参与者描述了允许安全、稳定或积极体验的个人保护因素之间的相互作用。在未来的社区政策制定中,决策者可能会考虑项目如何相互作用,并允许家庭同时获得多种保护因素,同时迫切需要提供这些具体的支持。
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引用次数: 0
In-home Tele-assessment for Autism in Toddlers: Validity, Reliability, and Caregiver Satisfaction with the TELE-ASD-PEDS. 幼儿自闭症家庭远程评估:效度、信度和照顾者满意度。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-06-17 DOI: 10.1097/DBP.0000000000001358
Devon N Gangi, Laura Corona, Liliana Wagner, Amy Weitlauf, Zachary Warren, Sally Ozonoff

Objective: This study focused on in-home use of a tele-assessment tool for autism diagnosis in young children, the TELE-ASD-PEDS (TAP). Psychometric properties, caregiver experiences, and perceptions of feasibility were examined among families likely to experience barriers to in-person evaluation.

Methods: One hundred eighty-two children between 18 and 42 months of age were recruited because of positive screening, primary care concerns, or early intervention referral. All participants completed initial tele-assessment including the TAP. Approximately 2 weeks later, a second visit was conducted: 92 were randomized to a repeat TAP administration by telehealth and 90 were randomized to an in-person evaluation. Caregivers completed surveys regarding challenges with technology and satisfaction with telehealth assessment.

Results: Overall, 77% of the sample was diagnosed with autism spectrum disorder (n = 140). There were few diagnostic disagreements (n = 10, 6%) between initial and second evaluations, with disagreements equally distributed between second visit type. Diagnostic outcomes (autism vs no autism) agreed between telehealth and in-person evaluation for 94% of cases, kappa = 0.82. Outcomes agreed between 2 telehealth visits for 94% of cases, kappa = 0.84. Test-retest reliability of total TAP scores across 2 administrations was strong, intraclass correlation coefficient = 0.85. Very few caregivers reported challenges with technology during telehealth appointments (<6%); 92% reported that there was nothing they would change about the telehealth visit. Examiners also reported high satisfaction with telehealth assessments.

Conclusion: In-home use of the TAP is valid, reliable, feasible, and acceptable to caregivers. Findings support the continued use of telehealth assessment for autism in toddlers, which can reduce disparities in access to timely diagnostic services.

目的:本研究主要关注幼儿自闭症远程评估工具TELE-ASD-PEDS (TAP)的家庭使用情况。心理测量的性质,照顾者的经验,并认为可行性的家庭可能会遇到障碍,以亲自评估。方法:182名年龄在18至42个月之间的儿童因阳性筛查、初级保健问题或早期干预转诊而被招募。所有参与者都完成了包括TAP在内的初步远程评估。大约2周后,进行了第二次访问:92名随机分配到通过远程医疗重复给药,90名随机分配到现场评估。护理人员完成了关于技术挑战和远程医疗评估满意度的调查。结果:总体而言,77%的样本被诊断为自闭症谱系障碍(n = 140)。第一次和第二次评估之间的诊断分歧很少(n = 10.6%),第二次就诊类型之间的分歧平均分布。在94%的病例中,远程医疗和现场评估的诊断结果(自闭症与非自闭症)一致,kappa = 0.82。94%的病例在两次远程医疗访问之间的结果一致,kappa = 0.84。两组TAP总分重测信度较强,类内相关系数= 0.85。很少有护理人员报告在远程医疗预约中遇到技术挑战(结论:在家中使用TAP是有效、可靠、可行和可接受的护理人员。研究结果支持对幼儿自闭症继续使用远程保健评估,这可以减少获得及时诊断服务的差距。
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引用次数: 0
Infant Distress From the Still-Face and its Association With Increased Problem Solving: Implications for Early Resilience. 静止面孔的婴儿痛苦及其与增加的问题解决能力的关联:对早期恢复力的影响。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-06-17 DOI: 10.1097/DBP.0000000000001378
Fabiola Silletti, Qingyu Jiang, Amanda Koire, Pasquale Musso, Gabrielle Coppola, Rosalinda Cassibba, Leena Mittal, Carmina Erdei, Joshua L Roffman, Cindy H Liu

Objective: This study aimed to investigate the relationship between infants' negative affect and problem-solving skills, along with the moderating role of mothers' perceived social support.

Methods: The sample consisted of 110 infants (49% females) and their mothers, who participated in the Perinatal Experiences and COVID-19 Effects (PEACE) Study at 2 time points: T1 (peripartum period, from late second trimester to 6 months postpartum) and T2 (when the infants were 8-10 months old). We used the Face-to-Face Still-Face (FFSF) procedure as an observational task to assess infant negative affect (T2) and maternal reports of their perceived social support (T1 and T2) and infants' problem-solving skills (T2). Spearman correlations and moderation analysis with PROCESS macro were performed in SPSS, controlling for maternal education, maternal age, maternal mental health (depression and anxiety at T1 and T2), and child sex.

Results: We found that infant negative affect was positively ( b = 1.88, p = 0.045) associated with problem-solving after controlling for other variables, whereas there was no evidence for a relationship with mothers' perceived social support ( b = 0.73, p = ns). Notably, in testing the interaction between negative affect during FFSF and social support ( b = 1.13, p = 0.001), the findings reveal more optimal problem-solving skills in infants whose mothers reported at T1 moderate ( b = 2.98, p = 0.003) or high ( b = 4.11, p = 0.001) social support. There was no evidence of a moderating role of mothers' perceived social support at T2 ( b = 0.32, p = ns).

Conclusion: Results show that infant negative affect may reflect their capacity for problem-solving and that bolstering social support for perinatal women may enhance their infants' problem-solving abilities. Findings highlight that children's negative affect in stressful situations, such as the FFSF context, may serve as a coping mechanism and offer new insights into the intergenerational transmission of resilience.

目的:探讨婴儿负性情感与问题解决能力的关系,以及母亲感知社会支持的调节作用。方法:样本包括110名婴儿及其母亲,其中49%为女性,在T1(围产期,从妊娠中期晚期到产后6个月)和T2(婴儿8-10个月)2个时间点参加围产期体验和COVID-19效应(PEACE)研究。我们采用面对面静止面孔(FFSF)程序作为观察任务来评估婴儿的负面情绪(T2)和母亲对其感知社会支持(T1和T2)和婴儿问题解决技能(T2)的报告。在SPSS中进行Spearman相关性和PROCESS宏的调节分析,控制产妇教育程度、产妇年龄、产妇心理健康(T1和T2时的抑郁和焦虑)和儿童性别。结果:在控制其他变量后,我们发现婴儿负面情绪与问题解决呈正相关(b = 1.88, p = 0.045),而与母亲感知的社会支持没有关系(b = 0.73, p = ns)。值得注意的是,在测试FFSF期间负面情绪与社会支持之间的相互作用(b = 1.13, p = 0.001)时,研究结果显示,母亲在T1中度(b = 2.98, p = 0.003)或高(b = 4.11, p = 0.001)社会支持时,婴儿的问题解决能力更佳。没有证据表明母亲在T2时感知到的社会支持有调节作用(b = 0.32, p = ns)。结论:婴儿的负性情绪可能反映了婴儿解决问题的能力,加强围产期妇女的社会支持可以提高婴儿解决问题的能力。研究结果强调,儿童在压力情境下的负面影响,如FFSF情境,可能作为一种应对机制,并为弹性的代际传递提供了新的见解。
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引用次数: 0
Journal Article Reviews. 期刊文章评论。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-06-05 DOI: 10.1097/DBP.0000000000001387
Ramkumar Aishworiya, Oana deVinck-Baroody, Michele Ledesma, Carol C Weitzman
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引用次数: 0
Complex ADHD in a Child With Tic Disorder. 抽动障碍儿童的复杂多动症。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-06-03 DOI: 10.1097/DBP.0000000000001389
Tyler Lackey, Demvihin Ihyembe, Zachary Riemenschneider, Tamar Caceres, Johanna M Lewis-Esquerre, Jason Fogler, Elizabeth A Diekroger

Case: Jaxon is a healthy 12-year-old boy who is referred to your clinic for medication management. He was diagnosed with ADHD using a validated questionnaire at age 9 years. He is currently prescribed OROS methylphenidate 54 mg capsules once daily in the morning, which he has taken for 3 years. This has generally worked well to improve his attention, focus, task persistence, and task completion. However, his parents now report increasing disruptive behaviors over the past 18 months, both at home and at school. There have been no major stressors over this period nor significant life changes or trauma in Jaxon's history.Jaxon's teachers report that although he remains in his seat, he constantly "squirms" and moves about. He also makes quick, jerky movements with his hands several times each class period. They report no specific trigger or activity for when this movement occurs, but report it being more intense when Jaxon is working hard to concentrate and stay focused. His mother also reports noticing the frequency increase if Jaxon thinks he is in trouble or when he is very excited (e.g., when he is playing video games). His parents share home videos to support these concerns.His teachers report problems with attention, fidgeting, and talking out of turn. They also report that his movements distract and disrupt the class. These reports are most often from his afternoon classes. Academically, he is doing well. He turns in most of his work, but his grades have dropped this semester. His teacher reports that he seems to lack the focus to complete his assignments and he rushes through them to go to the next activity.When you talk to Jaxon, he reports that he likes school, but he does not like how often he gets into trouble. He admits he gets embarrassed during quiet time when his hands randomly "move without me moving them."When observing Jaxon, you notice that he fidgets in his seat, often moving his hands over anything that is holding his attention (toys, papers). He is also verbally impulsive, interrupting the discussion with his mother multiple times during the visit. Twice, you witness a brisk single jerk of his right hand. It originates at the wrist and rotates away from his body with his hand closed. There was no accompanying vocalization with this movement.His parents are requesting a medication adjustment or change. What would you do?

案例:杰克森是一个健康的12岁男孩,他被转介到你们诊所接受药物治疗。他在9岁时通过一份有效的问卷被诊断为多动症。目前处方哌甲酯OROS 54 mg胶囊,每日1次,晨起,已服用3年。这通常很好地提高了他的注意力、专注力、任务持久性和任务完成度。然而,他的父母现在报告说,在过去的18个月里,他在家里和学校的破坏性行为越来越多。在这段时间里,杰克森没有重大的压力源也没有重大的生活变化或创伤。杰克森的老师报告说,虽然他一直坐在座位上,但他经常“扭动”,四处走动。每节课他还会用手做几次快速、剧烈的动作。他们报告说,当这种运动发生时,没有具体的触发因素或活动,但当Jaxon努力集中注意力时,这种运动更加强烈。他的母亲还报告说,如果杰克森认为自己遇到了麻烦,或者当他非常兴奋的时候(例如,当他在玩电子游戏的时候),他的频率就会增加。他的父母分享了家庭视频来支持这些担忧。他的老师报告说他注意力不集中、坐立不安、说话不按顺序。他们还报告说,他的动作分散了注意力,扰乱了课堂。这些报告大多来自他下午的课。在学业上,他做得很好。他交了大部分作业,但这学期他的成绩下降了。他的老师报告说,他似乎缺乏注意力来完成作业,他匆匆做完作业去做下一个活动。当你和杰克森谈话时,他说他喜欢学校,但他不喜欢经常惹麻烦。他承认,在安静的时候,他的手会随意“动一动,而我却不动”,这让他感到尴尬。当观察Jaxon时,你会注意到他在座位上坐立不安,经常用手抚摸任何吸引他注意力的东西(玩具、文件)。他在言语上也很冲动,在探访期间多次打断与母亲的讨论。两次,你看到他的右手轻快地抽动。它起源于手腕,当他的手闭合时,它会旋转离开他的身体。这个运动没有伴随的发声。他的父母要求调整或更换药物。你会怎么做?
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引用次数: 0
Co-occurring Anxiety in a Child With Autism and ADHD. 自闭症和多动症儿童的共同焦虑。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-06-03 DOI: 10.1097/DBP.0000000000001388
Molly Daffner-Deming, Devina Savant, Aqila Blakey-Armstrong, Robyn P Thom, Yamini Jagannath Howe, Jason Fogler, Elizabeth A Diekroger

Case: KM is an 11-year-old autistic boy followed by a developmental-behavioral pediatrician (DBP) practicing within a multidisciplinary autism center. He had been prescribed various attention-deficit hyperactivity disorder (ADHD) medications over the years, most recently dextroamphetamine-amphetamine extended-release capsule 10 mg daily.KM initially presented to the DBP for diagnostic confirmation of autism and ADHD at the age of 7 years. His school had conducted a detailed evaluation the year prior, indicating skills in the borderline range for cognitive, adaptive, and language functioning. Based on his developmental history, physical examination, review of school-based testing, and parent- and school-completed standardized questionnaires, he met Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria for autism spectrum disorder and ADHD with combined presentation.When KM was between the ages of 8 and 10 years, he trialed several medications, including methylphenidate (which led to emotional lability), dextroamphetamine sulfate oral solution (which caused irritability), and clonidine (which led to destructive behavior). Notably, KM's parents were divorced and had differing opinions and experiences surrounding the efficacy and tolerability of his medications, which made medication trials more complex. He eventually was stabilized on extended-release dextroamphetamine-amphetamine at the age of 9 years, which both parents agreed was helpful for improving attention, despite the medication triggering a new self-injurious behavior of punching himself.At the age of 10 years, after 1 year of stability on dextroamphetamine-amphetamine extended-release capsule 10 mg daily, his parents chose not to refill the medication, to see whether it was still helpful for him. They observed that he seemed much "happier" with improved mood and decreased anxiety when dextroamphetamine-amphetamine was withheld; however, they did note worsened hyperactivity. A few weeks later, he began demonstrating increased symptoms of anxiety such as somatization and externalizing behaviors. This included frustration, aggression, and oppositionality, especially in anticipation of and/or when confronting anxious stimuli.His neuropsychologist and DBP collaborated to create a behavior monitoring plan to help his parents clarify and track his symptoms across households, with the goal of monitoring symptom severity and differentiating ADHD from anxiety-related symptoms. Because of this, his parents identified hyperactivity and impulsivity as KM's most problematic symptoms; therefore, dextroamphetamine-amphetamine extended-release 10 mg daily was restarted. Although this was effective for his hyperactivity, ongoing monitoring suggested that his anxiety symptoms continued to be clinically significant. The DBP consulted a psychiatrist who advised a trial of escitalopram in conjunction with dextroamphetamine-amphetamine. Several weeks after sta

病例:KM是一名11岁的自闭症男孩,由一名在多学科自闭症中心执业的发育行为儿科医生(DBP)跟踪。多年来,他一直服用各种注意力缺陷多动障碍(ADHD)药物,最近服用的是右旋安非他明缓释胶囊,每天10毫克。KM最初在7岁时向DBP提出自闭症和ADHD的诊断确认。他的学校在前一年进行了详细的评估,表明他在认知、适应和语言功能方面的技能处于边缘范围。根据他的发展历史、体格检查、校本测试的回顾以及家长和学校完成的标准化问卷,他符合《精神疾病诊断与统计手册》第五版(DSM-5)孤独症谱系障碍和多动症的综合表现标准。当KM在8到10岁之间的时候,他试用了几种药物,包括哌甲酯(导致情绪不稳定)、硫酸右安非他明口服溶液(导致易怒)和可乐定(导致破坏性行为)。值得注意的是,KM的父母离婚了,对其药物的疗效和耐受性有不同的看法和经验,这使得药物试验更加复杂。最终,他在9岁时服用了缓释右旋安非他明(dextroamphetamine,简称安非他明),病情稳定下来,父母都认为这种药物有助于提高注意力,尽管这种药物会引发拳打脚踢的自残行为。在他10岁时,他的父母在稳定服用右旋安非他明缓释胶囊(每天10毫克)1年后,选择不重新给他服药,看看是否对他仍然有帮助。他们观察到,当右苯丙胺-安非他明被扣留时,他似乎“更快乐”,情绪得到改善,焦虑减少;然而,他们确实注意到多动症的恶化。几周后,他开始表现出越来越多的焦虑症状,如躯体化和外化行为。这包括沮丧、攻击性和对立性,尤其是在预期和/或面对焦虑刺激时。他的神经心理学家和DBP合作制定了一个行为监测计划,帮助他的父母在家庭中澄清和跟踪他的症状,目的是监测症状的严重程度,并将ADHD与焦虑相关的症状区分开来。正因为如此,他的父母认为多动和冲动是KM最具问题的症状;因此,重新开始右旋安非他明缓释10mg /天。虽然这对他的多动症是有效的,但持续的监测表明他的焦虑症状在临床上仍然很明显。舒张主任咨询了一位精神科医生,后者建议将艾司西酞普兰与右旋安非他明联合使用。在开始使用艾司西酞普兰(每天5mg)几周后,KM表现出焦虑思想减少和攻击减少,但持续出现注意力不集中的症状。考虑到KM的复杂表现,我们如何处理神经心理学评估、行为和治疗支持以及精神药理学?
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引用次数: 0
Qualitative Methods: Centering Patient Voices in Developmental and Behavioral Pediatrics Research. 定性方法:以发育和行为儿科学研究为中心的患者声音。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-05-27 DOI: 10.1097/DBP.0000000000001379
Veronica I Underwood Carrasco, Jessa N Culver, Jonathan Junqua, Katharine E Zuckerman, Susanne P Martin-Herz, Jaime W Peterson

Abstract: Qualitative design can be an integral method for developmental and behavioral pediatric (DBP) researchers to understand and better comprehend participant experiences. Qualitative methods are meant to be flexible, iterative, and collaborative, allowing the research team to learn through the data collection process as they connect with and gain insight from participants, or those with lived experience of the phenomenon. Even so, guidance is unclear on how to rigorously and thoughtfully implement these methods within DBP. This article aims to use common qualitative reporting guidelines to advise early career researchers on how to use qualitative design from study conception to results dissemination through a study case example in DBP.

摘要:定性设计可以成为发展与行为儿科(DBP)研究人员理解和更好地理解参与者体验的一种不可或缺的方法。定性方法意味着灵活、迭代和协作,允许研究团队通过数据收集过程学习,因为他们与参与者或有这种现象的生活经验的人联系并获得洞察力。即便如此,关于如何在DBP中严格而周到地实现这些方法的指导仍不明确。本文旨在通过DBP的研究案例,使用常见的定性报告指南,为早期职业研究人员提供如何从研究概念到结果传播使用定性设计的建议。
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引用次数: 0
The Case for Structured Data in Developmental-Behavioral Pediatrics: Project STANDARD (Structured Approach to Neurodevelopmental Care and Clinical Research Data). 发育行为儿科学结构化数据案例:项目标准(神经发育护理和临床研究数据的结构化方法)。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-05-27 DOI: 10.1097/DBP.0000000000001376
William Barbaresi, Yair Bannett, Nathan J Blum, Shang Chee Chong, Justice Clark, Magdalena Dall, Jeffery N Epstein, Johannes Fellinger, Tanya E Froehlich, Johannes Hofer, Daniel Holzinger, Patty Huang, YingQi Kang, Ramkumar Aishworiya, Marie Reilly, Ann M Reynolds, Gehan Roberts, George Sideridis, Deanna Swain, Carol Weitzman

Abstract: Neurodevelopmental and behavioral problems (NBPs) such as attention-deficit hyperactivity disorder and autism spectrum disorder are highly prevalent in children and adolescents. Clinical care for NBPs is characterized by unwarranted variation, a limited number of systematic approaches to measuring outcomes and evidence-based treatments, and significant challenges to conducting large, longitudinal clinical research studies. Clinical documentation of care provided to children with NBPs can be lengthy and time-consuming, lacks standardization, and often does not include precise details about clinically and scientifically important information (e.g., diagnostic criteria, services provided, response to treatment). The lack of standardization and missing data limit the utility of clinical documentation to support clinical research and quality improvement.

摘要/ Abstract摘要:注意缺陷多动障碍和自闭症谱系障碍等神经发育和行为问题在儿童和青少年中非常普遍。nbp的临床护理的特点是无根据的变化,有限数量的系统方法来衡量结果和循证治疗,以及进行大型纵向临床研究的重大挑战。向患有神经性障碍的儿童提供的护理的临床文件可能冗长而耗时,缺乏标准化,并且通常不包括关于临床和科学重要信息的精确细节(例如,诊断标准、提供的服务、对治疗的反应)。缺乏标准化和缺失的数据限制了临床文献的效用,以支持临床研究和质量改进。
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引用次数: 0
Exploring the Genetic Role of MECP2 Mutations on Phenotypic Presentation in Males: A Case Report. 探讨MECP2突变对男性表型表现的遗传作用:一个病例报告。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-05-15 DOI: 10.1097/DBP.0000000000001374
Hira Aslam, Seema Balasubramaniam, Paige McDunnah, Meghan Harrison

Objective: The purpose of this study was to explore the genotypic and phenotypic presentation of males with MECP2 -related neurodevelopmental disorders. When variants in the MECP2 gene are discovered in patients, Rett syndrome becomes a possible diagnosis. Rett syndrome, however, does not encapsulate all phenotypic variations in MECP2 gene mutations, and specific diagnosis can become tricky especially in the male population as mutations in the gene were historically thought to affect females only. The authors present a rare case of a male with a previously unpublished genetic variant resulting in a distinct clinical presentation not meeting the criteria for typical or atypical Rett syndrome.

Methods: This patient's institutional electronic medical record was accessed, and information was reviewed.

Results: It was discovered that this patient had a maternally inherited variant in his MECP2 gene, resulting in a unique and previously undescribed form of MECP2 -related neurodevelopmental disorder, presenting with language regression followed by speech apraxia and motor discoordination.

Discussion/conclusion: Literature reports on various phenotypes associated with MECP2 gene mutations and elaborates on previously identified forms of typical and atypical Rett syndrome. Through this case report, the authors uncovered a pathogenic variant in MECP2 resulting in a rare phenotype of MECP2 -related neurodevelopmental disorder that has not previously been described. This should encourage clinicians to think more broadly when approaching diagnosis of children with developmental differences. This also reinforces that Rett syndrome or MECP2 mutations can often present on a spectrum, and it may be beneficial to modify diagnostic criteria to reflect this.

目的:探讨男性mecp2相关神经发育障碍的基因型和表型表现。当在患者中发现MECP2基因的变异时,Rett综合征就成为一种可能的诊断。然而,Rett综合征并不能囊括MECP2基因突变的所有表型变异,而且特定的诊断可能变得棘手,特别是在男性人群中,因为该基因的突变历来被认为只影响女性。作者提出了一个罕见的男性病例,先前未发表的遗传变异导致明显的临床表现不符合典型或非典型Rett综合征的标准。方法:访问该患者的机构电子病历,并对信息进行审查。结果:发现该患者的MECP2基因存在母系遗传变异,导致MECP2相关神经发育障碍的一种独特且未被描述的形式,表现为语言退化,随后出现言语失用和运动协调障碍。讨论/结论:文献报道了与MECP2基因突变相关的各种表型,并详细阐述了先前发现的典型和非典型Rett综合征的形式。通过这一病例报告,作者发现了MECP2的致病变异,导致MECP2相关神经发育障碍的罕见表型,这在以前没有被描述过。这应该鼓励临床医生在诊断有发育差异的儿童时考虑得更广泛。这也强调了Rett综合征或MECP2突变经常出现在谱系中,修改诊断标准以反映这一点可能是有益的。
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Journal of Developmental and Behavioral Pediatrics
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