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Maternal Mobile Device Use and Mealtime Interactions With Children. 孕产妇使用移动设备和与孩子进餐时的互动。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2024-11-01 Epub Date: 2024-10-04 DOI: 10.1097/DBP.0000000000001317
Jenny S Radesky, Heidi M Weeks, Harlan McCaffery, Niko Kaciroti, Julie C Lumeng, Alison L Miller

Objective: This study examined (1) whether different types of mobile device use are associated with quantity/quality of parent-child interactions and (2) moment-to-moment changes in quantity/quality of parent-child interactions when devices are used.

Method: In 47 videorecorded home mealtimes conducted in 2011 to 2013, we conducted detailed coding of maternal device use (talking, texting/scrolling, having device on table), frequency of mother and child verbalizations, child bids for attention, and maternal response to bids (contingent, no response, negative response) in 5-second intervals. We examined between-mother differences in parent-child interaction variables for a 10-percentage point increase in each type of device use comparisons using negative binomial or logistic regression. We then compared intervals when there was active mobile device use to nonuse intervals using generalized estimating equation logistic regression, predicting the odds of each parent-child interaction variable.

Results: Mothers averaged 29.8 years (SD 6.10), child age 5.97 years (SD 0.56), and 55% had completed at least some college. Higher percentage of time spent texting/scrolling was associated with a lower rate of maternal verbalization (adjusted rate ratio 0.89 [95% confidence interval, 0.84-0.95]) and contingent response (adjusted rate ratio 0.92 [0.84-1.00]) and higher odds of nonresponse (adjusted odds ratio 1.13 [1.04-1.22]). In each 5-second interval of active device use, there was decreased odds of maternal verbalizations (adjusted odds ratio 0.48 [0.34-0.69]), child verbalizations (0.62 [0.44-0.88]), contingent response (0.45 [0.28-0.74]), and higher odds of maternal nonresponse (2.36 [1.40-4.00]).

Conclusion: These results demonstrate decreased parent-child verbal interaction and lower parent responsiveness during mobile device use, particularly with texting and scrolling.

研究目的本研究探讨了:(1)不同类型的移动设备使用是否与亲子互动的数量/质量有关;(2)使用设备时亲子互动的数量/质量的瞬间变化:在 2011 年至 2013 年进行的 47 次家庭用餐录像中,我们以 5 秒钟为间隔,对母亲的设备使用情况(说话、发短信/滚动、将设备放在桌子上)、母亲和孩子的言语频率、孩子请求注意的情况以及母亲对请求的回应(或有回应、无回应、负面回应)进行了详细编码。我们使用负二项回归或逻辑回归法研究了亲子互动变量在每种设备使用比较中增加 10 个百分点时母亲之间的差异。然后,我们使用广义估计方程逻辑回归法比较了积极使用移动设备和不使用移动设备的时间间隔,预测了每个亲子互动变量的几率:母亲的平均年龄为 29.8 岁(SD 6.10),子女的平均年龄为 5.97 岁(SD 0.56),55% 的母亲至少完成了大学学业。发短信/滚动时间比例越高,母亲口头回答率(调整后比率比为 0.89 [95% 置信区间,0.84-0.95])和或然性回答率(调整后比率比为 0.92 [0.84-1.00])越低,不回答的几率越高(调整后比率比为 1.13 [1.04-1.22])。在主动使用设备的每 5 秒间隔内,母亲口头表达(调整后的比率比为 0.48 [0.34-0.69] )、儿童口头表达(0.62 [0.44-0.88] )、或有反应(0.45 [0.28-0.74])的几率降低,而母亲无反应(2.36 [1.40-4.00])的几率升高:这些结果表明,在使用移动设备(尤其是发短信和滚动)期间,亲子之间的语言互动减少,父母的反应能力降低。
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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 : 2024-11-01 DOI: 10.1097/DBP.0000000000001338
Audrey Christiansen, Beth Bloom Emrick, Jan Harold D Sia, Carol C Weitzman
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引用次数: 0
Teletherapy and Medication Management of Attention-Deficit/Hyperactivity Disorder with Co-occurring Internalizing Symptoms and Suicidality During the Pandemic. 在大流行病期间,对同时伴有内化症状和自杀倾向的注意力缺陷/多动障碍进行远程治疗和药物管理。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2024-11-01 Epub Date: 2024-11-08 DOI: 10.1097/DBP.0000000000001324
Heather Potts, Deepika Shaligram, Rose Ashraf, Elizabeth Diekroger, Jason Fogler
<p><strong>Case: </strong>Sam (he/him) is an 11-year-old cisgender white male with previous diagnoses of attention-deficit/hyperactivity disorder, anxiety, and major depressive disorder who was referred to an outpatient psychiatry clinic after hospitalization for suicidal ideation and agitation. Family history is significant for bipolar disorder, depression, anxiety, substance use/abuse, and suicidality. Sam started a trial of atomoxetine 10 mg po QAM in December 2019 due to increasing inattention in the backdrop of worsening anxiety. Sam received school-based counseling through his IEP, which Sam declined due to embarrassment from being pulled out of the classroom, and services were quickly discontinued. In January 2020, obsessive-compulsive symptoms emerged, specifically obsessions about cleanliness with related compulsions. He started biweekly cognitive behavioral therapy with an outpatient provider to target obsessive-compulsive disorder symptoms. Concomitantly, a developmental-behavioral pediatrician who diagnosed obsessive-compulsive disorder started Sam on fluoxetine 10 mg po QAM. Atomoxetine was also increased to 25 mg po QAM for 4 weeks and built up to 40 mg po QAM in February 2020.Depressive symptoms emerged in Spring 2020, around the time of the COVID-19 pandemic, despite ongoing treatment with fluoxetine. There was a significant increase in aggression, agitation, and compulsive cleaning, which did not respond to the addition of lorazepam 0.5 mg po daily. Owing to concerns that medication was exacerbating his presentation, his prescriber began to wean him off both atomoxetine and fluoxetine.Sam presented to the Emergency Department in the summer of 2020 due to worsening symptoms, including suicidal ideation and aggression, in the context of medication adjustment, social isolation, and academic difficulty with virtual schooling. He completed a 3-week inpatient hospitalization followed by a 2-week virtual partial hospitalization program, during which Sam struggled with attention and engagement. As part of his discharge plan, he was referred to the outpatient psychiatry department to continue outpatient therapy and medication management.During the virtual transfer appointment to outpatient therapy, his parents reported persistent concerns for ongoing attention-deficit/hyperactivity disorder, depression, anxiety, and obsessive-compulsive symptoms, along with a fear of a resurgence of suicidal thinking. Sam reported exhaustion from virtual partial hospitalization program sessions he attended earlier in the day and was eager to leave the appointment. He minimized concerns, denied suicidal ideation or intent, and reported a strong disinterest in doing "another virtual therapy." In-person sessions would be ideal for Sam, given his history of attention difficulties, clinical complexity, and acuity and his self-identified dislike for virtual settings. However, services needed to be done virtually due to the quarantine shutdown. How would you pro
病例:萨姆(他/他)是一名 11 岁的顺性别白人男性,曾被诊断患有注意力缺陷/多动障碍、焦虑症和重度抑郁障碍。该患者有严重的双相情感障碍、抑郁、焦虑、药物使用/滥用和自杀等家族病史。由于在焦虑症恶化的背景下注意力越来越不集中,山姆于2019年12月开始试用阿托莫西汀10毫克,每次QAM。通过个人教育计划,萨姆接受了学校提供的心理咨询,但由于被拉出教室而感到尴尬,萨姆拒绝接受这种服务,而且这种服务很快就停止了。2020 年 1 月,萨姆出现了强迫症状,特别是对清洁的强迫和相关的强迫症。他开始接受每两周一次的认知行为治疗,由一名门诊医生针对强迫症症状进行治疗。与此同时,一名诊断出强迫症的儿科发育行为医生开始给山姆服用氟西汀,每次 10 毫克。尽管一直在接受氟西汀治疗,但在 2020 年春季,即 COVID-19 大流行前后,抑郁症状还是出现了。攻击性、烦躁不安和强迫性清洁症状明显增加,但在每天服用 0.5 毫克劳拉西泮后症状并无好转。由于担心药物会加重他的症状,处方医生开始让他停用阿托西汀和氟西汀。2020 年夏天,萨姆因症状加重(包括自杀意念和攻击性)、药物调整、社会隔离和虚拟学校学习困难而到急诊科就诊。他接受了为期 3 周的住院治疗,随后又接受了为期 2 周的虚拟部分住院治疗项目,在此期间,萨姆在注意力和参与度方面都遇到了困难。作为出院计划的一部分,他被转介到精神科门诊部继续接受门诊治疗和药物管理。在门诊治疗的虚拟转诊预约期间,他的父母报告说,他们一直担心萨姆会持续出现注意力缺陷/多动障碍、抑郁、焦虑和强迫症状,并担心他再次出现自杀念头。萨姆报告说,他在当天早些时候参加的虚拟部分住院治疗项目课程中感到疲惫不堪,急于离开预约地点。他将担忧降到最低,否认有自杀想法或意图,并表示对 "再做一次虚拟治疗 "非常不感兴趣。考虑到萨姆有注意力障碍、临床复杂性和敏锐性的病史,以及他自称不喜欢虚拟环境,面对面的治疗对他来说是最理想的。但是,由于隔离关闭,服务需要以虚拟方式进行。您将如何对山姆进行治疗?
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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 : 2024-10-04 DOI: 10.1097/DBP.0000000000001318
Ramkumar Aishworiya, Audrey Christiansen, Michele Ledesma, Carol C Weitzman
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引用次数: 0
Associations Among Race, Ethnicity, and Clinical Profiles of Young Children Evaluated for Autism in the Primary Care Setting. 在基层医疗机构接受自闭症评估的幼儿的种族、民族和临床特征之间的关联。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2024-09-01 Epub Date: 2024-07-17 DOI: 10.1097/DBP.0000000000001298
Ann Marie Martin, Brandon Keehn, Angela Paxton, Mary R Ciccarelli, Rebecca McNally Keehn

Objective: Despite long-standing racial and ethnic disparities in autism spectrum (AS) diagnosis, recent research suggests that overall, greater numbers of Black and Latine children are now diagnosed with AS as compared with non-Latine White (NLW) children in some US regions. However, gaps remain in the equitable detection of Black and Latine children with AS without significant developmental impairment. The objective of this study was to determine whether the clinical profiles of young children evaluated for AS across a statewide system of early autism diagnosis in Indiana vary by race and ethnicity.

Methods: We examined racial and ethnic differences in: (1) AS symptom severity, (2) developmental functioning, (3) adaptive functioning, and (4) behavior problems in a sample of 147 children, aged 14 to 48 months (M = 2.6 years), referred for AS evaluation.

Results: Clinical profiles of young children evaluated differed significantly by race and ethnicity, with Black and Latine children exhibiting lower developmental ( p = 0.008) and adaptive abilities ( p = 0.01) and higher AS symptoms ( p = 0.03) as compared with NLW children.

Conclusion: Potential explanations for findings include racial and ethnic differences in family and community awareness and knowledge about AS and follow-through on evaluation referral, both driven by social determinants of health (SDOH) affecting minoritized children. Bias in screening and assessment instruments and clinician surveillance, screening, and referral practices may also underlie differences in clinical profiles of children evaluated. Future research is needed to understand the SDOH that influence AS detection and diagnosis to improve equitable access to early diagnosis and intervention.

目的:尽管自闭症谱系(AS)诊断中长期存在种族和民族差异,但最近的研究表明,在美国一些地区,与非拉丁白人(NLW)儿童相比,目前被诊断患有自闭症谱系的黑人和拉丁裔儿童人数总体上有所增加。然而,在公平检测患有 AS 且无明显发育障碍的黑人和拉丁裔儿童方面仍存在差距。本研究旨在确定印第安纳州全州范围内早期自闭症诊断系统中接受自闭症评估的幼儿的临床特征是否因种族和民族而异:我们对147名年龄在14至48个月(M = 2.6岁)的自闭症评估转介儿童样本进行了种族和民族差异调查:(1) 自闭症症状严重程度;(2) 发育功能;(3) 适应功能;(4) 行为问题:与北大西洋公约组织(NLW)儿童相比,黑人和拉丁裔儿童的发育能力(p = 0.008)和适应能力(p = 0.01)较低,而强直性脊柱炎症状(p = 0.03)较高:研究结果的潜在解释包括家庭和社区对强直性脊柱炎的认识和了解以及对评估转介的跟进方面的种族和民族差异,这两者都是由影响少数民族儿童的健康社会决定因素(SDOH)驱动的。筛查和评估工具以及临床医生的监测、筛查和转诊实践中的偏差也可能是导致被评估儿童临床特征差异的原因。未来的研究需要了解影响强直性脊柱炎检测和诊断的 SDOH,以改善早期诊断和干预的公平性。
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引用次数: 0
Considerations and Actionable Steps to Promote Scaling of Early Autism Diagnosis in Community Primary Care Practice. 在社区初级保健实践中推广早期自闭症诊断的考虑因素和可行步骤。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2024-09-01 Epub Date: 2024-07-12 DOI: 10.1097/DBP.0000000000001297
Rebecca McNally Keehn, Melanie Penner, Jennifer Shannon, Kristin Sohl, Carol Weitzman, Katharine E Zuckerman
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引用次数: 0
Hearing Loss and Autism Spectrum Disorder. 听力损失与自闭症谱系障碍。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2024-09-01 Epub Date: 2024-08-13 DOI: 10.1097/DBP.0000000000001308
Sarah A Pollick, Megan Honor Pesch, Arielle Spellun, Elodie M Betances, Susan Wiley, Leah C Geer, Kerry K Prout, Michelle Hu, Sarah S Nyp

Case: Gretta is a 3.5-year-old girl with a history of congenital cytomegalovirus, congenital bilateral profound sensorineural hearing loss (SNHL), and bilateral vestibular dysfunction, resulting in frequent falls. She underwent cochlear implantation at 12 months of age and was diagnosed with autism spectrum disorder at 2.5 years of age.On presentation for follow-up in the developmental-behavioral pediatrics (DBP) clinic, Gretta's mother reports that Gretta has refused to wear her cochlear implants for the past 5 months. Before that, she seemed to enjoy having access to sound and like dancing to music, and her receptive and expressive language skills, including speech, were progressing. Initially, the rejection of her devices occurred only at preschool. When frustrated or overwhelmed, she would close her eyes and remove her devices for up to 5 minutes before allowing them to be reapplied. Over time, this progressed to a complete refusal to wear her devices at school and then at home, rendering her without access to sound and spoken language.Gretta's mood has become sullen, and she is now having tantrums at school. She physically startles when attempts are made to reintroduce her devices. Her ability to participate in classroom learning or interact with her classmates is limited, as she attends a spoken-language-focused preschool program. A board-certified behavioral analyst, hired by the family, recommended that Gretta not be allowed to participate in classroom activities unless she wears her devices. She now becomes visibly anxious even when in the same room as her devices and repetitively states "no implant, no implant." Her mother is worried about her inability to communicate and has "no idea" what may have changed or sparked her initial refusal to wear the devices.What factors would you consider when determining the cause and function of Gretta's refusal to wear the cochlear implants? How would you guide her parents, teachers, and clinicians to ensure the best developmental and behavioral outcomes for her?

病例格蕾塔(Gretta)是一名 3.5 岁的女孩,患有先天性巨细胞病毒、先天性双侧深度感音神经性听力损失(SNHL)和双侧前庭功能障碍,因此经常摔倒。她在 12 个月大时接受了人工耳蜗植入手术,并在 2.5 岁时被诊断出患有自闭症谱系障碍。在到发育行为儿科(DBP)诊所复诊时,Gretta 的母亲报告说,Gretta 在过去 5 个月里一直拒绝佩戴人工耳蜗。在此之前,她似乎很喜欢接触声音,喜欢跟着音乐跳舞,而且她的接受和表达语言能力,包括说话能力,都在不断进步。起初,她只是在学前班时才会出现排斥设备的情况。当她感到沮丧或不知所措时,她会闭上眼睛,取下她的设备长达 5 分钟,然后才允许重新使用。随着时间的推移,这种情况发展到在学校和家里完全拒绝佩戴设备,使她无法接触声音和有声语言。当试图重新使用她的设备时,她的身体会受到惊吓。由于她上的是以口语为主的学前班,她参与课堂学习或与同学互动的能力受到了限制。她的家人聘请了一位经过委员会认证的行为分析师,该分析师建议除非 Gretta 佩戴设备,否则不允许她参加课堂活动。现在,她即使和她的设备在同一个房间里,也会变得明显焦虑,并反复说 "不要植入,不要植入"。她的母亲担心她无法与人交流,而且 "不知道 "是什么原因改变或引发了她最初的拒绝佩戴设备的行为。在确定 Gretta 拒绝佩戴人工耳蜗的原因和功能时,您会考虑哪些因素?您将如何指导她的父母、老师和临床医生,以确保她获得最佳的发育和行为结果?
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引用次数: 0
Perceptions of Individuals with Autism Spectrum Disorder on How Health Care Providers Address Sexual Health. 自闭症谱系障碍患者对医疗服务提供者如何处理性健康问题的看法。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2024-09-01 Epub Date: 2024-06-21 DOI: 10.1097/DBP.0000000000001293
Aanchal Sharma, David W Pantalone, Brooke Kohn, Erin T Pereida, Nicole Nadwodny, Susan Faja

Objective: Medical providers report barriers that prevent them from discussing sexual health with patients with autism spectrum disorder (ASD). No investigations have examined the perspectives of adults with ASD about their sexual health care experiences.

Methods: Twenty-five verbal young adults diagnosed with ASD and 40 young adults without ASD participated. An 8-item self-report survey assessed frequency of health care visits, age when sexual health was first discussed, and frequency/content of discussions with providers.

Results: The likelihood of discussing sexual health topics did not differ by group, χ 2 s < 3.25; p s > 0.07, except sexual victimization, which the ASD group reported having discussed less than the non-ASD group (32% vs 9%), χ 2 (1, N = 57) = 4.36, p = 0.04. Groups did not differ in their reported comfort level discussing sex/sexual health, having a primary care provider, or frequency of visits. The non-ASD group was significantly more likely to have received sexual health counseling (81%) than ASD group (52%), χ 2 (1, N = 58) = 5.33, p = 0.02. Participants in both groups reported having received sexual health information from similar sources except the ASD group was more likely to receive information from parents than the non-ASD group (68% vs 30%), χ 2 (1, N = 65) = 8.99, p = 0.003.

Conclusion: Participants in the ASD and non-ASD groups reported similar comfort levels with sexual health discussions and access to health providers. Yet, the ASD group received less counseling related to sexual health-particularly sexual victimization screening-suggesting that critical information may be missing. Future studies should determine how to help providers overcome barriers to providing young adults with ASD sexual health aligned with their needs.

目的:医疗服务提供者称,他们在与自闭症谱系障碍(ASD)患者讨论性健康问题时遇到了障碍。目前还没有调查研究自闭症谱系障碍成人对其性保健经历的看法:25名被诊断患有自闭症谱系障碍(ASD)的年轻成年人和40名未患有自闭症谱系障碍(ASD)的年轻成年人参加了此次调查。一项由 8 个项目组成的自我报告调查评估了就诊频率、首次讨论性健康问题的年龄以及与医疗服务提供者讨论的频率/内容:各组讨论性健康话题的可能性没有差异,χ2s < 3.25; ps > 0.07,但性侵害除外,ASD 组比非 ASD 组(32 vs 9%)更少讨论性侵害,χ2 (1, N = 57) = 4.36, p = 0.04。各组在报告的讨论性/性健康的舒适度、拥有初级保健提供者或就诊频率方面没有差异。非 ASD 组接受过性健康咨询的可能性(81%)明显高于 ASD 组(52%),χ2 (1, N = 58) = 5.33, p = 0.02。除了 ASD 组比非 ASD 组(68% 对 30%)更有可能从父母那里获得信息(χ2 (1, N = 65) = 8.99, p = 0.003)外,两组的参与者都表示从相似的渠道获得过性健康信息:ASD组和非ASD组的参与者在性健康讨论和获得医疗服务方面的舒适度相似。然而,ASD 组接受的与性健康相关的咨询较少,尤其是性侵害筛查,这表明可能缺少关键信息。未来的研究应该确定如何帮助医疗服务提供者克服障碍,为患有 ASD 的年轻人提供符合他们需求的性健康服务。
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引用次数: 0
Social Determinants in COVID-19 Experiences of Children With Disabilities Receiving School-Based Services in Chicago: Mixed-Methods Study of Parent/Guardian Perspectives. 芝加哥接受校本服务的残疾儿童 COVID-19 体验中的社会决定因素:家长/监护人视角的混合方法研究》(Mixed-Methods Study of Parent/Guardian Perspectives)。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2024-09-01 Epub Date: 2024-06-21 DOI: 10.1097/DBP.0000000000001294
Catherine Y Luo, Monica E Kowalczyk, Michael E Msall, Anna Volerman

Objective: To identify the impact of social determinants on the experiences of children with disabilities and their families during the COVID-19 pandemic from the perspective of parents/guardians.

Methods: A mixed-methods study engaged parents/guardians of children with Individualized Education Programs (IEPs) in July to August 2021 at a developmental/behavioral pediatrics clinic in 1 urban academic medical center. All parents/guardians completed study-specific surveys on experiences and impact of COVID-19. A subset completed semi-structured interviews. Analysis included descriptive statistics and Fisher exact tests for survey questions and thematic analysis to code interviews and identify themes. Results were corroborated by experts in developmental/behavioral pediatrics and special education.

Results: Participants included 24 parents/guardians representing 27 children (mean = 7.37 years). A majority attended public school (78%) and identified as non-White (78%). Most commonly, the children's disabilities were autism (52%), attention-deficit hyperactivity disorder (37%), and speech/language impairment (33%). The services received by children most commonly were speech/language (89%) and physical/occupational (70%) therapies. Five themes emerged about the impact of social determinants on experiences during COVID-19 related to: adapting to disruption of routines, attendance/engagement in learning, interruption of IEP services, support for children and families, and challenges with technology.

Conclusion: Social determinants, such as housing, income, insurance, and quality of education, affected the experiences of families and their ability to adapt to the needs of children with disabilities in the setting of COVID-19 pandemic-related changes.

目的从家长/监护人的角度,确定社会决定因素在 COVID-19 大流行期间对残疾儿童及其家庭经历的影响:2021 年 7 月至 8 月,在 1 个城市学术医疗中心的发育/行为儿科诊所开展了一项混合方法研究,有个别化教育计划 (IEP) 儿童的家长/监护人参与了这项研究。所有家长/监护人都完成了有关 COVID-19 的体验和影响的研究特定调查。一部分人完成了半结构化访谈。分析包括对调查问题的描述性统计和费雪精确检验,以及对访谈进行编码和确定主题的主题分析。结果得到了发育/行为儿科和特殊教育专家的证实:参与者包括 24 名家长/监护人,代表 27 名儿童(平均年龄为 7.37 岁)。大多数人就读于公立学校(78%),并被认定为非白人(78%)。儿童最常见的残疾是自闭症(52%)、注意力缺陷多动障碍(37%)和言语/语言障碍(33%)。儿童最常接受的服务是言语/语言治疗(89%)和物理/职业治疗(70%)。关于社会决定因素对 COVID-19 期间经历的影响,出现了五个主题,分别涉及:适应常规的中断、出勤/参与学习、IEP 服务的中断、对儿童和家庭的支持以及技术方面的挑战:结论:住房、收入、保险和教育质量等社会决定因素影响了家庭的经历以及他们在 COVID-19 大流行相关变化的环境中适应残疾儿童需求的能力。
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引用次数: 0
Experts' Views on Children's Access to Community-Based Therapeutic and Education Services After Genomic Sequencing Results. 专家对基因组测序结果出来后儿童获得社区治疗和教育服务的看法。
IF 1.8 3区 医学 Q3 BEHAVIORAL SCIENCES Pub Date : 2024-09-01 Epub Date: 2024-07-10 DOI: 10.1097/DBP.0000000000001299
Simon M Outram, Julia E H Brown, Matthew Norstad, Astrid N Zamora, Sara L Ackerman

Objective: To evaluate how community-based experts respond to families seeking therapeutic and educational support services after pediatric genomic sequencing for rare conditions.

Methods: We interviewed 15 experts in the provision of community-based services for children with intellectual differences, developmental differences, or both, as part of a large study examining the utility of exome sequencing.

Results: Interviewees highlighted the complexity of the overall referral and assessment system for therapeutic or educational needs, that genetic diagnoses are secondary to behavioral observations in respect to eligibility for the provision of services, and that social capital drives service acquisition. Although emphasizing that genetic results do not currently provide sufficient information for determining service eligibility, interviewees also highlighted their hopes that genetics would be increasingly relevant in the future.

Conclusion: Genomic results do not usually provide information that directly impacts service provision. However, a positive genomic test result can strengthen evidence for behavioral diagnoses and the future trajectory of a child's condition and support needs. Interviewees' comments suggest a need to combine emerging genetic knowledge with existing forms of therapeutic and educational needs assessment, and for additional supports for families struggling to navigate social and therapeutic services.

目的: 评估社区专家如何应对小儿罕见病基因组测序后寻求治疗和教育支持服务的家庭:评估社区专家如何应对小儿罕见病基因组测序后寻求治疗和教育支持服务的家庭:我们采访了 15 位为有智力差异、发育差异或两者兼有的儿童提供社区服务的专家,这是一项研究外显子组测序效用的大型研究的一部分:受访者强调了治疗或教育需求的整体转介和评估系统的复杂性,就提供服务的资格而言,基因诊断次于行为观察,社会资本推动了服务的获取。虽然受访者强调基因结果目前并不能为确定服务资格提供足够的信息,但他们也强调希望基因学在未来会越来越重要:基因组结果通常不会提供直接影响服务提供的信息。然而,阳性的基因组检测结果可以加强行为诊断的证据,以及儿童病情和支持需求的未来发展轨迹。受访者的意见表明,有必要将新出现的基因知识与现有的治疗和教育需求评估形式相结合,并为那些在社会和治疗服务中挣扎的家庭提供额外的支持。
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引用次数: 0
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Journal of Developmental and Behavioral Pediatrics
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