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A Systematic Study on Prenatal Opioid Exposure: A Review of Neurodevelopmental Consequences. 产前阿片类药物暴露的系统研究:对神经发育后果的回顾。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-11-01 Epub Date: 2025-08-15 DOI: 10.1097/DBP.0000000000001407
Quyen Cao, Julie Kable

Objective: A systematic review using Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines was conducted to evaluate the potential adverse impacts on neurodevelopment associated with prenatal opiate exposure.

Method: After applying exclusion criteria to the identified collection of studies, 86 studies were included in this review. Each article was evaluated using the Grading of Recommendations, Assessment, Development, and Evaluations system. Results were grouped into 6 neurobehavioral function domains (executive, language, general development, motor, neurosensory, and socioemotional) and 1 neuroimaging domain.

Result: Risk difference analyses showed the neurosensory domain in children prenatally exposed to opioid had highest risk of impairment (76.9%), whereas the executive domain had lowest risk (44.8%). The meta-analysis of pooled estimates after statistical adjustments associated with the Egger's test results showed effect size (Hedge's g) was largest in the socioemotional domain (-1.14; 95% CI, -1.61 to -0.66) and smallest in the general development domain (-0.44; 95% CI, -0.70 to -0.18). Neuroimaging studies on prenatal exposure to opioid were limited and varied in the techniques and topographical focus in their approaches, resulting in a heterogenous body of literature.

Conclusion: Maternal opioid use during pregnancy can serve as a risk indicator for an at-risk child and the potential need for monitoring the child's neurodevelopmental growth. The conclusions related to the direct teratogenic effects of maternal opioid use, however, are often limited by poor experimental and statistical controls used to address other substances and social adversity that co-occur with opioid use.

目的:采用系统评价和荟萃分析指南的首选报告项目进行系统评价,以评估产前阿片类药物暴露对神经发育的潜在不利影响。方法:在对确定的研究集合应用排除标准后,86项研究被纳入本综述。每篇文章都使用推荐、评估、发展和评估分级系统进行评估。结果分为6个神经行为功能域(执行、语言、一般发育、运动、神经感觉和社会情感)和1个神经影像学域。结果:风险差异分析显示,阿片类药物暴露儿童的神经感觉区受损风险最高(76.9%),而执行区风险最低(44.8%)。在统计调整与Egger检验结果相关的汇总估计后的荟萃分析显示,效应大小(Hedge's g)在社会情感领域最大(-1.14;95% CI, -1.61至-0.66),在一般发展领域最小(-0.44;95% CI, -0.70至-0.18)。关于产前阿片类药物暴露的神经影像学研究是有限的,并且在技术和地形焦点方面各不相同,导致文献的异质性。结论:孕妇在妊娠期间使用阿片类药物可作为高危儿童的危险指标和监测儿童神经发育生长的潜在需求。然而,与母亲使用阿片类药物的直接致畸效应有关的结论往往受到用于解决与阿片类药物使用同时发生的其他物质和社会逆境的不良实验和统计控制的限制。
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引用次数: 0
Preliteracy Skills in Young Children Who are Deaf/Hard of Hearing: Secondary Analysis of the Technology-assisted Language Intervention Randomized Trials. 失聪/听障幼儿的识字前技能:技术辅助语言干预随机试验的二次分析。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-11-01 Epub Date: 2025-07-17 DOI: 10.1097/DBP.0000000000001394
Elodie Betances, Susan Wiley, Meredith Tabangin, Rose Sheldon, Laura Lane, Deborah Mood, Pamela Williams-Arya, Jayna Schumacher, Jareen Meinzen-Derr

Objectives: Most children exhibit preliteracy skills by preschool. Children who are deaf/hard of hearing (DHH) with a language gap are at risk for delayed preliteracy skills. Our study aimed to describe preliteracy skill development in preschool-aged DHH children and investigate associated factors.

Methods: Children, aged 3 to 5 years, were included in the analysis if enrolled in randomized trials of a language intervention using augmentative and alternative communication, shown to boost language skills. Evaluations using the Clinical Evaluations of Fundamentals-Preschool Preliteracy Rating Scale (PRS) were conducted at baseline, 24 weeks, and 48 weeks. Repeated-measures models assessed changes in total PRS scores and Early Reading and Early Writing subdomains. Results were presented as least square mean values with 95% confidence intervals.

Results: Forty-five children had completed pre-data and post-data. The mean nonverbal IQ was 99.3 (SD 14.3), and receptive and expressive language were 82.3 (14.9) and 76.8 (17.0), respectively. Significant ( p < 0.0001) skill growth was observed with all preliteracy outcomes, ranging from 11 to 15 points in the first 24 weeks. Increasing receptive and expressive language over time was significantly associated with increasing scores. Factors such as aided hearing thresholds, caregiver education level, and hearing device use were not significant in models.

Conclusion: Language is essential for literacy development. Language-enhancing interventions could facilitate literacy skills. Monitoring preliteracy skills in DHH children is crucial, given their increased risk for language delays. Further research is needed to support early literacy development in this population, ensuring they have the tools they need for future success.

目的:大多数儿童在学龄前表现出识字能力。有语言障碍的失聪/听障儿童面临读写能力延迟的风险。我们的研究旨在描述学龄前DHH儿童的识字前技能发展并调查相关因素。方法:年龄在3至5岁的儿童被纳入分析,如果他们参加了语言干预的随机试验,使用增强和替代交流,显示出提高语言技能。在基线、24周和48周使用临床基础评估-学前前读写能力评定量表(PRS)进行评估。重复测量模型评估了PRS总分和早期阅读和早期写作子域的变化。结果以95%置信区间的最小二乘平均值表示。结果:45例患儿完成了术前和术后资料。平均非语言智商为99.3 (SD 14.3),接受语言和表达语言分别为82.3(14.9)和76.8(17.0)。所有识字前结果均观察到显著(p < 0.0001)的技能增长,在前24周内从11到15分不等。随着时间的推移,接受性和表达性语言的增加与分数的提高显著相关。辅助听力阈值、照顾者教育水平和助听器使用等因素在模型中不显著。结论:语言对读写能力的发展至关重要。语言增强干预可以促进识字技能。鉴于DHH儿童语言迟缓的风险增加,监测他们的识字前技能至关重要。需要进一步的研究来支持这一人群的早期识字发展,确保他们拥有未来成功所需的工具。
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引用次数: 0
Impact of Intersecting Identities on Student Well-being. 交叉身份对学生幸福感的影响。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-11-01 Epub Date: 2025-09-09 DOI: 10.1097/DBP.0000000000001409
Purnima Valdez, Andrea Diaz Stransky, Crystal Grant, Marilyn Augustyn

Case: John is a 12-year-old African-American boy with a Specific Learning Disorder in Reading and Generalized Anxiety Disorder who you are seeing in follow-up at your clinic. Last fall, when John was having an escalation of his anxiety symptoms at school, he enacted the behavior intervention plan (BIP) that had been previously established by his educational team of informing his teacher that he needed to leave the classroom. He then paced the hallway outside of his classroom as a method of coping with the anxiety that he was experiencing. Approximately 3 months prior, John's teacher was unable to visualize him from her position in the classroom and subsequently called the School Resource Officer (SRO) to locate him. The SRO found John, who was in an emotionally dysregulated state. The SRO subsequently approached John who noted that he wanted to jump off a cliff. Rather than following the BIP which details the need to involve the school counselor and social worker when John is in an emotionally dysregulated state to perform a self-harm/threat assessment, the SRO bypassed this step and, instead, notified the emergency response team, who initiated a petition for psychiatric evaluation, thus temporarily limiting parental rights to make certain treatment decisions. This led to John being transported to the local Emergency Department (ED) in the backseat of a police vehicle.While in the ED, a urine toxicology assessment was performed which returned negative and John was subsequently evaluated by the child and adolescent psychiatrist on call who deemed that John was not an immediate threat to himself or others and discharged him home with his mother. Subsequent to this event, John exhibited refusal to return to school and would remain in his family's car for 30 to 60 minutes before entering the school in the morning. Once at school, he would go to an administrator's office where he felt safe, and his school work was brought to him. His long-standing therapist, who he had been seeing for management of anxiety, began providing Eye Movement Desensitization and Reprocessing therapy with John as a trauma-focused intervention to address the events he experienced at school.John continued to exhibit school avoidance and was placed on home-bound instruction by the school in the spring, which comprised 60 minutes of special education instruction in the home each week, without provision of general education instruction. John went from being an A/B student to earning Ds and Fs, and he was denied compensatory instructional services by the school in the summer.The family comes to your DBP clinic that summer asking for evaluation of his traumatic symptoms and to create a plan for the fall and returning to school.

案例:约翰是一名12岁的非裔美国男孩,患有阅读方面的特殊学习障碍和广泛性焦虑症,您正在您的诊所进行随访。去年秋天,当约翰在学校的焦虑症状升级时,他制定了之前由他的教育团队制定的行为干预计划(BIP),通知老师他需要离开教室。然后,他在教室外的走廊里踱来踱去,作为一种应对他正在经历的焦虑的方法。大约3个月前,约翰的老师无法从教室的位置看到他,随后打电话给学校资源官(SRO)来定位他。SRO找到了约翰,他处于情绪失调状态。SRO随后找到约翰,约翰说他想从悬崖上跳下去。而不是遵循BIP,详细说明需要让学校辅导员和社会工作者在约翰处于情绪失调状态时进行自我伤害/威胁评估,SRO绕过了这一步,而是通知了紧急反应小组,后者发起了精神病学评估的请愿,从而暂时限制了父母做出某些治疗决定的权利。这导致约翰坐在一辆警车的后座上被送往当地急诊室。在急诊科,对约翰进行了尿液毒理学评估,结果是阴性的,随后,儿童和青少年精神病学家对约翰进行了评估,他们认为约翰对自己或他人没有直接威胁,并让他和母亲一起回家。这件事发生后,约翰表现出拒绝回学校的行为,每天早上他都会在家里的车里呆上30到60分钟才进入学校。一到学校,他就会去管理员的办公室,在那里他觉得很安全,他的作业就会送到他面前。他的长期治疗师,他一直在看他的焦虑管理,开始为约翰提供眼动脱敏和再加工治疗,作为一种以创伤为重点的干预,以解决他在学校经历的事件。约翰继续表现出逃避学校的行为,并在春季被学校安排在家指导,其中包括每周在家进行60分钟的特殊教育指导,不提供普通教育指导。约翰从A/B的学生变成了d和f的学生,他在夏天被学校拒绝了补偿性的教学服务。那个夏天,他的家人来到你的DBP诊所,要求对他的创伤症状进行评估,并制定一个秋季和重返学校的计划。
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引用次数: 0
Improving Metabolic Monitoring of Atypical Antipsychotics in a Developmental and Behavioral Pediatrics Ambulatory Clinic. 在发育和行为儿科门诊改善非典型抗精神病药物的代谢监测。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-11-01 Epub Date: 2025-08-19 DOI: 10.1097/DBP.0000000000001412
Joanna E Dreyer, Jeffrey J Glasheen, Lucas E Orth, Karen Garay, Ada Z Koch, Ann Reynolds

Atypical antipsychotics are high-risk medications with serious side effects including weight gain, hyperlipidemia, and insulin resistance. Safe use in youth with autism spectrum disorder and other neurodevelopmental disorders is especially important due to inherent risks of high obesity rates and barriers to a healthy lifestyle. Metabolic monitoring rates are low in this population in part due to difficulties with obtaining labs and other vitals. In our Developmental and Behavioral Pediatrics clinic, 31% of patients had once-yearly metabolic monitoring parameters completed. We aimed to increase metabolic monitoring rates through multi-disciplinary interventions. A pharmacist provided educational presentations to staff, the pharmacist identified patients needing monitoring and provided recommendations to the medical provider, nursing staff notified families by phone if labs were needed, and child life support services were offered. Average once-yearly metabolic monitoring rates increased from 31% to 64% 1 year after beginning interventions. Three educational presentations were provided, 183 recommendations for monitoring were made on 141 patients, and nursing made 38 phone calls to families. Of the 141 patients identified as needing monitoring at the time of clinic visit, 72 (51%) obtained the monitoring parameters within 3 months. Abnormal metabolic labs requiring additional action were found in 31/72 (43%) patients. Patients with in-person visits were more likely to obtain labs overall and on the day of clinic visit than those with telehealth appointments. Using a multidisciplinary approach within a Developmental and Behavioral Pediatrics clinic, metabolic monitoring rates in patients taking atypical antipsychotics greatly improved.

非典型抗精神病药物是高风险药物,具有严重的副作用,包括体重增加、高脂血症和胰岛素抵抗。在患有自闭症谱系障碍和其他神经发育障碍的青少年中安全使用尤其重要,因为他们固有的高肥胖率风险和健康生活方式的障碍。在这个人群中,代谢监测率很低,部分原因是难以获得实验室和其他生命体征。在我们的发育和行为儿科诊所,31%的患者完成了每年一次的代谢监测参数。我们旨在通过多学科干预提高代谢监测率。药剂师向工作人员提供教育介绍,药剂师确定需要监测的患者并向医疗提供者提供建议,护理人员在需要化验时通过电话通知家属,并提供儿童生命支持服务。在开始干预一年后,平均每年一次的代谢监测率从31%增加到64%。提供了3次教育讲座,对141名患者提出了183项监测建议,护理人员给家属打了38个电话。在141例就诊时确定需要监测的患者中,72例(51%)在3个月内获得了监测参数。72例患者中有31例(43%)发现代谢实验室异常,需要采取额外措施。与远程医疗预约的患者相比,亲自就诊的患者总体上更有可能在门诊就诊当天获得实验室检查。在发育和行为儿科诊所使用多学科方法,代谢监测率在服用非典型抗精神病药物的患者大大提高。
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引用次数: 0
Disability Visibility: First-person Stories From the Twenty-first Century. 残疾人可见度:21世纪的第一人称故事。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-11-01 Epub Date: 2025-09-29 DOI: 10.1097/DBP.0000000000001422
Claire C Foster
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引用次数: 0
Trends in US School-aged Children's Mental Health and Health Care, 2016-2021. 2016-2021年美国学龄儿童心理健康和医疗保健趋势
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-11-01 Epub Date: 2025-11-21 DOI: 10.1097/DBP.0000000000001434
Lydie A Lebrun-Harris, Julie F Donney, Reem M Ghandour, Mir M Ali, Lara Robinson, Jennifer W Kaminski

Objectives: To examine recent trends and patterns in school-aged children's mental health and health care-related measures.

Methods: Data came from the 2016 to 2021 National Survey of Children's Health (n = 155,178). Adjusted logistic regression models were used to test for significant time trends and between-group differences. Measures included mental, emotional, behavioral conditions (MEB; depression, anxiety, behavioral/conduct problems), positive indicators of mental/emotional well-being, and mental health care access/utilization.

Results: In 2021, 20.4% of children aged 6 to 17 years (over 10 million) had at least 1 current MEB, up from 18.1% in 2016 (+13%; trend p < 0.001). Two-thirds (68.8%) of children with an MEB received treatment/counseling in the past year. Over half (53.6%) of children had difficulty getting mental health care, up from 44.0% in 2018 trend p < 0.001; 6.4% had unmet mental health care needs, up from 4.3% in 2016 (trend p = 0.01). Four of 5 positive indicators significantly decreased over time (range: -8% to -14%; trend p < 0.001). Across 2016 to 2021, access to mental health treatment was lower for publicly insured, uninsured, lower income, and racial/ethnic minority children.

Conclusion: An increasing burden of MEB conditions in children aged 6 to 17 years has been accompanied by stagnant rates of mental health treatment and increasing challenges in accessing services. Access to treatment varied across population subgroups, indicating gaps in access to prevention, diagnosis, and treatment.

目的:研究学龄儿童心理健康和卫生保健相关措施的最新趋势和模式。方法:数据来自2016 - 2021年全国儿童健康调查(n = 155,178)。采用调整后的logistic回归模型检验显著的时间趋势和组间差异。测量包括心理、情绪、行为状况(MEB;抑郁、焦虑、行为/行为问题)、心理/情绪健康的积极指标以及心理卫生保健的获取/利用。结果:2021年,20.4%的6 - 17岁儿童(超过1000万)至少有1次当前MEB,高于2016年的18.1%(+13%,趋势p < 0.001)。三分之二(68.8%)患有MEB的儿童在过去一年中接受了治疗/咨询。超过一半(53.6%)的儿童难以获得精神卫生保健,高于2018年的44.0% (p < 0.001);6.4%的人精神卫生保健需求未得到满足,高于2016年的4.3%(趋势p = 0.01)。5项积极指标中的4项随着时间的推移显著下降(范围:-8%至-14%;趋势p < 0.001)。2016年至2021年期间,公共保险、无保险、低收入和种族/少数民族儿童获得心理健康治疗的机会较低。结论:随着6至17岁儿童MEB负担的增加,心理健康治疗率停滞不前,获得服务的挑战日益增加。获得治疗的机会因人口亚组而异,表明在获得预防、诊断和治疗方面存在差距。
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引用次数: 0
Promoting Collaboration Among Pediatrics, Education, and Law in a Preschooler With Co-occurring Attention-deficit Hyperactivity Disorder and Cerebral Palsy. 在患有注意缺陷多动障碍和脑瘫的学龄前儿童中促进儿科、教育和法律的合作。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-11-01 Epub Date: 2025-10-20 DOI: 10.1097/DBP.0000000000001431
Irene Loe, Adiaha Spinks-Franklin, Daney Espiritu, William S Koski, Elizabeth A Diekroger, Jason M Fogler

Case: Marcus is a 4-year-old African-American boy with cerebral palsy, Gross Motor Function Classification System level 1, and attention-deficit hyperactivity disorder (ADHD), Combined Presentation who presents to Developmental-Behavioral Pediatrics clinic for evaluation because of preschool difficulties. He is very active, jumping up and down at circle time, bumping into classmates, and impulsively hitting other children when they take his toys. As a toddler, his cognitive and social-emotional skills were on track, and he received early intervention for language and motor delays. He qualified for an IEP and transitioned to a district-based inclusive preschool setting with speech therapy and adaptive physical education. Marcus spends the week with his grandparents, and they live in a school district that is well-resourced and has inclusive school and therapy settings. The teachers call parents or grandparents frequently to pick him up. In response to misbehavior, they also put him in a separate timeout area, away from the other children, with a 1:1 aide for the rest of the day. On 2 occasions, he was strapped into a therapy chair for nonambulatory children after biting or hitting another child. Because he does well with 1:1 support, the school has switched him to a special day class with smaller class size, comprised primarily of autistic preschoolers who are minimally verbal. Marcus' parents have just started parent training in behavior management for ADHD after struggling to find a therapist that was covered by their insurance. His mother noticed while volunteering in his original class that other children with similar behavior were not sent home or transferred to a special education class. They are upset with the transfer to the more restrictive environment, but they are worried if they speak up that the district will send him to a less resourced school in the district where the family, rather than grandparents, reside. How would you advise the family to proceed?

案例:Marcus是一个4岁的非裔美国男孩,患有脑瘫,大运动功能分类系统1级,注意缺陷多动障碍(ADHD),合并表现,由于学龄前的困难,他来到发展行为儿科诊所接受评估。他很活跃,绕圈时跳上跳下,撞到同学,当其他孩子拿他的玩具时,他会冲动地打他们。作为一个蹒跚学步的孩子,他的认知和社交情感技能走上正轨,他接受了语言和运动迟缓的早期干预。他获得了IEP的资格,并过渡到以地区为基础的包容性学前教育,包括语言治疗和适应性体育教育。马库斯每周都和他的祖父母在一起,他们住在一个资源充足的学区,那里有包容性的学校和治疗设施。老师们经常打电话给父母或祖父母来接他。为了应对不端的行为,他们还把他放在一个单独的休息区域,远离其他孩子,在一天剩下的时间里,有一个1:1的助手。有两次,他在咬或打另一个孩子后被绑在一个不能走动的孩子的治疗椅上。因为他在1:1的支持下表现得很好,学校已经把他转到了一个特殊的日班,班级规模较小,主要由自闭症学龄前儿童组成,他们的语言能力最低。马库斯的父母刚刚开始接受ADHD行为管理方面的家长培训,此前他们一直在努力寻找一位可以支付保险费用的治疗师。他的母亲在他原来的班级做志愿者时注意到,其他有类似行为的孩子没有被送回家或转到特殊教育班。他们对孩子被转移到更严格的环境感到不满,但他们担心,如果他们说出来,学区会把他送到他们家而不是祖父母居住的学区资源更少的学校。你建议他的家人怎么做?
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引用次数: 0
Parental Feeding Strategies and Outcomes During Complementary Food Introduction Among Preterm Infants at 12 Months Corrected Age. 在12个月矫正年龄的早产儿中引入辅食的父母喂养策略和结果。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-10-24 DOI: 10.1097/DBP.0000000000001433
Kelsey L Thompson, Jinhee Park, Cara McComish, Suzanne Thoyre, Karen Erickson

Objective: The introduction to complementary food is an important stage, particularly for preterm infants and their parents as they navigate a changing feeding relationship. Parental feeding strategies during this period can influence long-term feeding outcomes, but the influence of specific strategies on later feeding skills and feeding problem symptoms is unknown.

Method: Parents of preterm infants completed surveys about their infant's feeding at regular intervals from 1 to 12 months of age. At each time point, parents reported on their use of feeding strategies and their infants' feeding skills (Child Oral and Motor Proficiency Scale) and feeding problem symptoms (Pediatric Eating Assessment Tool). Patterns of parental strategy use across the early complementary feeding period were examined and associations with feeding skills and problems at 12 months corrected age was assessed.

Results: Seventy-four parents completed the surveys. Frequency and type of strategies used changed over time. Four patterns of parental strategy use emerged: low-moderate, schedule dominant, dual dominant, and modification dominant. Parental use of 2 or more types of strategies at relatively high levels was associated with more feeding problem symptoms at 12 months but not feeding skills.

Conclusion: Parents of preterm infants use different strategies during the complementary feeding period to navigate their infant's feeding, with potential implications for later feeding problems. Future research should explore causal mechanism behind parental strategy use and feeding problem symptoms through longitudinal analyses and investigate how parental perceptions and decision-making regarding mealtime strategy use evolve over the first year of life.

目的:辅食的介绍是一个重要的阶段,特别是早产儿和他们的父母,因为他们导航不断变化的喂养关系。在此期间,父母的喂养策略可以影响长期的喂养结果,但具体策略对后来的喂养技巧和喂养问题症状的影响尚不清楚。方法:对1 ~ 12个月大的早产儿父母进行定期喂养调查。在每个时间点,父母报告了他们对喂养策略的使用和婴儿的喂养技巧(儿童口腔和运动熟练程度量表)和喂养问题症状(儿科饮食评估工具)。研究人员检查了早期补充喂养期间父母策略使用的模式,并评估了12个月矫正年龄时喂养技巧和问题的关系。结果:74名家长完成问卷调查。使用策略的频率和类型随着时间的推移而变化。出现了四种父母策略使用模式:低-中度、计划显性、双重显性和修改显性。父母使用两种或两种以上相对较高水平的策略与12个月时更多的喂养问题症状相关但与喂养技能无关。结论:早产儿的父母在辅食期采用不同的喂养策略来引导婴儿的喂养,这可能对以后的喂养问题产生影响。未来的研究应该通过纵向分析来探索父母策略使用和喂养问题症状背后的因果机制,并调查父母对用餐时间策略使用的看法和决策在出生后的第一年是如何演变的。
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引用次数: 0
Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication Syndrome. 母体15q重复综合征自闭症谱系障碍的表型描述和精神病理。
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-10-17 DOI: 10.1097/DBP.0000000000001428
Ilaria Venezia, Sara Passarini, Silvia Guerrera, Massimo Apicella, Viola Alesi, Gemma D'Elia, Ester Sallicandro, Piera Bontempo, Andrea Bartuli, Lorenzo Sinibaldi, Stefano Vicari, Giovanni Valeri

Objective: Maternal 15q11-q13 duplication syndrome (Dup15q) has been associated with 0.5% of all cases of autism spectrum disorder (ASD). There is no established protocol for the neuropsychiatric evaluation of individuals with this syndrome. This study aims to define a protocol incorporating gold standard assessments.

Methods: Six individuals with Dup15q underwent assessment of cognitive and adaptive functioning (Leiter-3, Adaptive Behavior Assessment System-Second Edition), autistic traits (Autism Diagnostic Observation Schedule-2 [ADOS-2], Autism Diagnostic Interview-Revised [ADI-R], Social Communication Questionnaire, Social Responsiveness Scale, Repetitive Behaviors Scale-R), co-occurring psychopathology (Kiddie Schedule for Affective Disorders and Schizophrenia, Child Behavior Checklist, Swanson, Nolan, and Pelham-Forth Edition, Sleep Disturbance Scale for Children), and family functioning (Parenting Stress Index-Short Form, PedsQL). Parents were required to fill the Symptom Checklist 90 (SCL-90) and Autism-Spectrum Quotient (AQ) to gather information about their psychiatric co-occurrences and autistic traits. A molecular analysis was performed to confirm the genetic alteration.

Results: Two siblings inherited the duplication through maternal transmission, whereas 4 individuals had a de novo maternal duplication. No participant exhibited preserved cognitive abilities; 4 of 5 showed below average adaptive functioning and 2 of 6 received a diagnosis of ASD. ADOS-2 revealed greater difficulties in the Social Affect domain compared with the Repetitive and Restricted Behaviors domain (p < 0.05), findings confirmed by ADI-R (p < 0.05). K-SADS indicated clinical scores in 5 individuals, with anxiety disorder in 3 participants. High levels of parental stress and a poor quality of life were reported. The mother carrier of the duplication showed clinical scores on the "Positive Symptom Total" of the SCL-90 and on the AQ.

Conclusion: Individuals with an in tandem 15q-11q13 duplication seems to exhibit cognitive and adaptive difficulties along with psychiatric co-occurrences and autistic traits. Parents, with or without the duplication, may experience psychopathological difficulties and impaired family functioning.

目的:母体15q11-q13重复综合征(Dup15q)与0.5%的自闭症谱系障碍(ASD)病例有关。对于患有这种综合征的个体,尚无既定的神经精神评估方案。本研究旨在定义一个包含金标准评估的方案。方法:对6例Dup15q患者进行了认知和适应功能(leletter -3,适应行为评估系统第二版)、自闭症特征(自闭症诊断观察表-2 [ADOS-2]、自闭症诊断访谈-修订版[ADI-R]、社会沟通问卷、社会反应量表、重复行为量表- r)、共发精神病理(儿童情感障碍和精神分裂症量表、儿童行为检查表,Swanson, Nolan,和Pelham-Forth版,儿童睡眠障碍量表),以及家庭功能(养育压力指数-简表,PedsQL)。父母被要求填写症状检查表90 (SCL-90)和自闭症谱系商数(AQ),以收集有关其精神病学共现和自闭症特征的信息。进行了分子分析以证实遗传改变。结果:2个兄弟姐妹通过母体传播遗传了重复,4个个体有从头复制的母体重复。没有参与者表现出保留的认知能力;5人中有4人表现出低于平均水平的适应功能,6人中有2人被诊断为ASD。ADOS-2在社会情感领域比重复性和限制性行为领域表现出更大的困难(p < 0.05), ADI-R证实了这一结果(p < 0.05)。K-SADS显示临床得分5人,焦虑障碍3人。据报道,父母的压力很大,生活质量也很差。结论:15q-11q13串联重复基因的个体表现出认知和适应困难,并伴有精神共发病和自闭特征。父母,无论是否有重复,都可能经历精神病理上的困难和家庭功能受损。
{"title":"Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication Syndrome.","authors":"Ilaria Venezia, Sara Passarini, Silvia Guerrera, Massimo Apicella, Viola Alesi, Gemma D'Elia, Ester Sallicandro, Piera Bontempo, Andrea Bartuli, Lorenzo Sinibaldi, Stefano Vicari, Giovanni Valeri","doi":"10.1097/DBP.0000000000001428","DOIUrl":"https://doi.org/10.1097/DBP.0000000000001428","url":null,"abstract":"<p><strong>Objective: </strong>Maternal 15q11-q13 duplication syndrome (Dup15q) has been associated with 0.5% of all cases of autism spectrum disorder (ASD). There is no established protocol for the neuropsychiatric evaluation of individuals with this syndrome. This study aims to define a protocol incorporating gold standard assessments.</p><p><strong>Methods: </strong>Six individuals with Dup15q underwent assessment of cognitive and adaptive functioning (Leiter-3, Adaptive Behavior Assessment System-Second Edition), autistic traits (Autism Diagnostic Observation Schedule-2 [ADOS-2], Autism Diagnostic Interview-Revised [ADI-R], Social Communication Questionnaire, Social Responsiveness Scale, Repetitive Behaviors Scale-R), co-occurring psychopathology (Kiddie Schedule for Affective Disorders and Schizophrenia, Child Behavior Checklist, Swanson, Nolan, and Pelham-Forth Edition, Sleep Disturbance Scale for Children), and family functioning (Parenting Stress Index-Short Form, PedsQL). Parents were required to fill the Symptom Checklist 90 (SCL-90) and Autism-Spectrum Quotient (AQ) to gather information about their psychiatric co-occurrences and autistic traits. A molecular analysis was performed to confirm the genetic alteration.</p><p><strong>Results: </strong>Two siblings inherited the duplication through maternal transmission, whereas 4 individuals had a de novo maternal duplication. No participant exhibited preserved cognitive abilities; 4 of 5 showed below average adaptive functioning and 2 of 6 received a diagnosis of ASD. ADOS-2 revealed greater difficulties in the Social Affect domain compared with the Repetitive and Restricted Behaviors domain (p < 0.05), findings confirmed by ADI-R (p < 0.05). K-SADS indicated clinical scores in 5 individuals, with anxiety disorder in 3 participants. High levels of parental stress and a poor quality of life were reported. The mother carrier of the duplication showed clinical scores on the \"Positive Symptom Total\" of the SCL-90 and on the AQ.</p><p><strong>Conclusion: </strong>Individuals with an in tandem 15q-11q13 duplication seems to exhibit cognitive and adaptive difficulties along with psychiatric co-occurrences and autistic traits. Parents, with or without the duplication, may experience psychopathological difficulties and impaired family functioning.</p>","PeriodicalId":50215,"journal":{"name":"Journal of Developmental and Behavioral Pediatrics","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening for Developmental Delays in Primary Health Care in Northeastern Brazil. 巴西东北部初级卫生保健中发育迟缓的筛查
IF 2.2 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2025-10-13 DOI: 10.1097/DBP.0000000000001427
Francilena Ribeiro Bessa, Katia Virgínia Viana-Cardoso, José Davi Nunes Martins, Rafaela Silva Moreira, Claudia Regina Lindgren Alves, Lívia de Castro Magalhães

Objective: To estimate the frequency of suspected neurodevelopmental delays (NDD) and to investigate the measurement properties and usability of the Survey of Well-Being of Young Children-Brazilian version (SWYC-BR).

Methods: We conducted a cross-sectional study in Basic Health care Units in Northeastern Brazil. The participants were 645 mothers/caregivers of children between 2 and 65 months of age who completed the SWYC-BR and a socioeconomic questionnaire. We estimated the frequency of suspected NDD using the SWYC-BR, assessed the respondents' experience with the questionnaire, and examined test-retest reliability and internal consistency of the SWYC-BR items, as well as the construct validity of the Developmental Milestones questionnaire (DM-SWYC).

Results: The sample consisted primarily of families residing in urban areas and belonging to very low socioeconomic classes. The frequency of suspected NDD was 37.9%. The internal consistency of the SWYC-BR ranged from 0.56 to 0.97, and the test-retest reliability of the items was high (>0.75). Significant associations with risk factors for developmental delays confirmed the construct validity of the DM-SWYC. Most mothers/caregivers found the SWYC-BR easy to respond (85.7%) and enjoyed responding to the questions (95.8%).

Conclusion: The high frequency of suspected NDD highlights the need for special attention to early child development. The SWYC-BR was well accepted, and its measurement properties were confirmed, demonstrating its feasibility in identifying children requiring closer primary health care monitoring.

目的:估计疑似神经发育迟缓(NDD)的发生频率,探讨巴西版《幼儿幸福指数调查》(SWYC-BR)的测量特性和可用性。方法:我们在巴西东北部的基本卫生保健单位进行了一项横断面研究。参与者是645名2至65个月大儿童的母亲/照顾者,他们完成了SWYC-BR和社会经济问卷。我们使用SWYC-BR来估计疑似NDD的频率,评估受访者对问卷的体验,并检验SWYC-BR项目的重测信度和内部一致性,以及发展里程碑问卷(DM-SWYC)的结构效度。结果:样本主要由居住在城市地区的家庭组成,属于非常低的社会经济阶层。疑似NDD的发生率为37.9%。SWYC-BR的内部一致性在0.56 ~ 0.97之间,各条目的重测信度较高(>0.75)。与发育迟缓危险因素的显著关联证实了DM-SWYC的结构效度。大多数母亲/照顾者认为SWYC-BR易于回答(85.7%),并且喜欢回答问题(95.8%)。结论:疑似NDD的高频率突出了对儿童早期发育的特殊关注。SWYC-BR得到广泛接受,其测量特性得到确认,表明其在确定需要更密切初级保健监测的儿童方面的可行性。
{"title":"Screening for Developmental Delays in Primary Health Care in Northeastern Brazil.","authors":"Francilena Ribeiro Bessa, Katia Virgínia Viana-Cardoso, José Davi Nunes Martins, Rafaela Silva Moreira, Claudia Regina Lindgren Alves, Lívia de Castro Magalhães","doi":"10.1097/DBP.0000000000001427","DOIUrl":"10.1097/DBP.0000000000001427","url":null,"abstract":"<p><strong>Objective: </strong>To estimate the frequency of suspected neurodevelopmental delays (NDD) and to investigate the measurement properties and usability of the Survey of Well-Being of Young Children-Brazilian version (SWYC-BR).</p><p><strong>Methods: </strong>We conducted a cross-sectional study in Basic Health care Units in Northeastern Brazil. The participants were 645 mothers/caregivers of children between 2 and 65 months of age who completed the SWYC-BR and a socioeconomic questionnaire. We estimated the frequency of suspected NDD using the SWYC-BR, assessed the respondents' experience with the questionnaire, and examined test-retest reliability and internal consistency of the SWYC-BR items, as well as the construct validity of the Developmental Milestones questionnaire (DM-SWYC).</p><p><strong>Results: </strong>The sample consisted primarily of families residing in urban areas and belonging to very low socioeconomic classes. The frequency of suspected NDD was 37.9%. The internal consistency of the SWYC-BR ranged from 0.56 to 0.97, and the test-retest reliability of the items was high (>0.75). Significant associations with risk factors for developmental delays confirmed the construct validity of the DM-SWYC. Most mothers/caregivers found the SWYC-BR easy to respond (85.7%) and enjoyed responding to the questions (95.8%).</p><p><strong>Conclusion: </strong>The high frequency of suspected NDD highlights the need for special attention to early child development. The SWYC-BR was well accepted, and its measurement properties were confirmed, demonstrating its feasibility in identifying children requiring closer primary health care monitoring.</p>","PeriodicalId":50215,"journal":{"name":"Journal of Developmental and Behavioral Pediatrics","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Journal of Developmental and Behavioral Pediatrics
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