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Genetic Testing History in Adults With Autism Spectrum Disorder. 成人自闭症谱系障碍的基因检测史。
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-05 DOI: 10.1007/s10803-026-07265-9
Susanna B Mierau, Robyn P Thom, Caitlin T Ravichandran, Amanda Nagy, Cashel Rice, Christina Macenski, Christopher J Keary, Michelle L Palumbo, Christopher J McDougle, Ann M Neumeyer

Purpose: Many genes have been identified in autism spectrum disorder (ASD). Yet how many adults with ASD receive recommended genetic testing and their outcomes is unknown. We investigated the percentage of adults with ASD with documented genetic testing in our ASD specialty clinic and the percentage with positive findings.

Methods: Adults were identified through search of our data repository and ASD diagnoses confirmed using record review by psychiatrists specializing in ASD. Patients were included (N = 630) who had at least one visit with a qualifying clinician between 5/1/2010 and 12/15/2020. Data were collected through manual retrospective record review.

Results: Only 41% of the adults with ASD (261/630) had a documented history of genetic testing. Genetic testing was declined by patients or families for 11% of records and not recorded in 47%. Mean (SD; range) age for the 261 adults was 28.5 (5.3; 22-58) years; 26% were female and 73% had intellectual disability (ID). The genetic testing method was recorded in 91% (238). Only 54% of these patients had testing using a recommended method (chromosomal array, autism/ID sequencing panel, or exome sequencing). Few adults received testing with sequencing technologies. A genetic cause of ASD was found in 28%.

Conclusion: ASD-related genetic testing is underutilized in adults with ASD. Nearly half of the adults in our sample lacked documentation of genetic testing. Adults with ASD may benefit from having their genetic testing history reviewed in the clinic and the recommended testing performed.

目的:在自闭症谱系障碍(ASD)中发现了许多基因。然而,有多少患有自闭症谱系障碍的成年人接受了推荐的基因检测及其结果尚不清楚。我们调查了在我们的ASD专科诊所进行记录在案的ASD成人基因检测的百分比以及阳性结果的百分比。方法:通过检索我们的数据库确定成人,并通过专门从事ASD的精神病学家的记录审查确认ASD诊断。纳入的患者(N = 630)在2010年1月5日至2020年12月15日期间至少与合格临床医生进行过一次就诊。通过人工回顾性记录审查收集数据。结果:只有41%的成年ASD患者(261/630)有基因检测记录。11%的患者或家属拒绝进行基因检测,47%的患者或家属没有进行基因检测。261名成人的平均(SD;范围)年龄为28.5岁(5.3;22-58)岁;26%为女性,73%为智力残疾(ID)。91%(238例)采用基因检测方法。这些患者中只有54%使用推荐的方法(染色体阵列、自闭症/ID测序小组或外显子组测序)进行了检测。很少有成年人接受了测序技术的检测。28%的人发现了自闭症的遗传原因。结论:ASD相关基因检测在成人ASD患者中的应用不足。在我们的样本中,近一半的成年人缺乏基因检测的文件。患有自闭症谱系障碍的成年人可能会受益于他们的基因检测历史在诊所进行审查和推荐的测试。
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引用次数: 0
Child Quality of Life as an Outcome Following Pivotal Response Treatment: Findings From Four Randomized Controlled Trials With Autistic Children. 儿童生活质量作为关键反应治疗后的结果:来自四项自闭症儿童随机对照试验的结果。
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-04 DOI: 10.1007/s10803-026-07261-z
Rachel K Schuck, Emily F Ferguson, Emily K Spackman, Ella Jevtic, M Estefania Millan, Katherine Paszek, Hamidreza Komaki, Qianheng Ma, Jennifer M Phillips, Mirko Uljarević, Grace W Gengoux, Antonio Y Hardan
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引用次数: 0
Sensory Over-Responsivity in Autism: A Bidirectional Brain-Gut-Microbiome Model. 自闭症的感觉过度反应:一个双向脑-肠-微生物模型。
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-04 DOI: 10.1007/s10803-026-07279-3
Sofronia M Ringold, Sharon A Cermak, Jennifer S Labus, Emeran A Mayer, Lisa Aziz-Zadeh
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引用次数: 0
A Pilot Randomized Controlled Trial of the Autism Mentorship Program. 自闭症指导计划的随机对照试验。
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-03 DOI: 10.1007/s10803-026-07272-w
Rebekah L Hudock, Meredith Gunlicks-Stoessel, Jinyi Zhang, Haoran Zhou, Anya Congreve, Shayna Williams, Connor Petricek, Emily Goldberg, Jeannette Dempsey Austin, A J Hokland, Lila Khan, Lindsey M Weiler

Purpose: While mentoring programs have many positive social-emotional outcomes for youth, the benefits of mentoring are not yet well understood for autistic youth, a population that frequently seeks social and mental health supports. The current pilot randomized clinical trial study aims to examine (1) the acceptability of the Autism Mentorship Program (AMP) and (2) the preliminary effectiveness of AMP in improving mentees' well-being and reducing symptoms of mental health problems.

Methods: Participants included 24 autistic youth, 24 caregivers of autistic youth, and 12 autistic adults. Youth (ages 14-18) were randomized to AMP or services-as-usual (SAU), with 13 randomized into AMP. AMP included 23 weekly online mentoring sessions during which autistic mentors and autistic adolescents met in 1-to-1 meetings and discussed topics related to social-emotional learning or shared interests or engaged in an activity of their choosing. Youth, caregivers and autistic mentors completed pre- and post-program assessments related to satisfaction, mental health, and psychosocial outcomes. Analyses focused on descriptive trends and effect sizes due to limited power.

Results: Participants in AMP reported high program satisfaction and strong mentoring relationships. Compared to youth in SAU, AMP youth showed improvements in self-esteem, satisfaction with self, perceived social support, and engagement, with small to moderate effect sizes. Mentees also reported trends toward reduced anxiety and depression.

Conclusion: AMP is a feasible, acceptable, and potentially effective identity-affirming program for autistic adolescents. Findings support further evaluation in larger trials to establish its utility as a scalable, community-based mental health support within autistic communities.

目的:虽然指导项目对青少年有许多积极的社会情感结果,但对自闭症青少年来说,指导的好处还没有被很好地理解,这是一个经常寻求社会和心理健康支持的人群。本研究旨在检验(1)自闭症师友计划(Autism Mentorship Program, AMP)的可接受性,以及(2)该计划在改善学童身心健康及减轻心理健康问题症状方面的初步成效。方法:参与者包括24名自闭症青少年、24名自闭症青少年的照顾者和12名自闭症成年人。青少年(14-18岁)被随机分配到AMP或照例服务(SAU),其中13人被随机分配到AMP。AMP包括23个每周在线辅导课程,在此期间,自闭症导师和自闭症青少年一对一会面,讨论与社交情感学习或共同兴趣或参与他们选择的活动相关的主题。青少年、照顾者和自闭症导师完成了与满意度、心理健康和社会心理结果相关的项目前和项目后评估。分析集中在描述性趋势和由于有限的权力效应大小。结果:AMP的参与者报告了高的项目满意度和强大的师徒关系。与SAU青年相比,AMP青年在自尊、自我满意度、感知社会支持和参与方面表现出改善,效应量小到中等。学员们还报告了焦虑和抑郁减少的趋势。结论:AMP是一种可行的、可接受的、潜在有效的自闭症青少年身份确认项目。研究结果支持在更大规模的试验中进一步评估,以确定其在自闭症社区中作为可扩展的、基于社区的心理健康支持的效用。
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引用次数: 0
Correspondence Between the Brief Observation of Symptoms of Autism (BOSA) and the Autism Diagnostic Observation Schedule-2 (ADOS-2) in Adolescents and Adults. 青少年和成人自闭症症状简短观察(BOSA)与自闭症诊断观察表-2 (ADOS-2)的对应关系
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-03 DOI: 10.1007/s10803-026-07278-4
Jeannine E Ederer, Linnea A Lampinen, Le Thao Vy Vo, Vanessa H Bal

Purpose: Research has indicated an increase of adults being referred for first-time autism assessment though there are limited tools designed to assess autism in adulthood. Concerns have arisen regarding higher rates of camouflaging in adulthood-diagnosed adults and how this may restrict clinicians' ability to observe all autistic traits during assessments with an unfamiliar person. The Brief Observation of Symptoms of Autism (BOSA), derived from the Autism Diagnostic Observation Schedule-2 (ADOS-2), was developed during the COVID-19 pandemic. The BOSA focuses on a 12- to 14-minute interaction with a familiar other and has shown promise as an adapted tool. Due to the short duration and limited materials, the BOSA may be useful as a supplemental measure for first-time diagnosis of adolescents or adults, or as a brief method to characterize research participants.

Methods: The study sought to explore the utility of the BOSA and its correspondence to the ADOS-2 with a sample of forty-two adolescents and adults who completed the ADOS-2 and BOSA within the same visit at an autism lab within a university in New Jersey.

Results: Sensitivity and specificity of the ADOS-2 Modules 3 and 4 and BOSA F2 were comparable. The instruments yielded highly similar classifications and item scores. Differences in some item scores highlight limitations of very brief observations and suggest potential areas for refinement of the BOSA.

Conclusion: The BOSA may provide an additional context in which to consider diagnostic features when assessing adolescents and adults and offers a feasible option for sample characterization in research.

目的:研究表明,尽管用于评估成年期自闭症的工具有限,但成年人首次接受自闭症评估的人数有所增加。人们关注的是,成年诊断的成年人有更高的伪装率,这可能会限制临床医生在对一个不熟悉的人进行评估时观察所有自闭症特征的能力。《自闭症症状简要观察表》(BOSA)是在2019冠状病毒病大流行期间开发的,源自《自闭症诊断观察表-2》(ADOS-2)。BOSA侧重于与熟悉的人进行12到14分钟的互动,并已显示出作为一种适应工具的前景。由于持续时间短,材料有限,BOSA可作为青少年或成人首次诊断的补充措施,或作为描述研究参与者特征的简单方法。方法:本研究旨在探讨BOSA的效用及其与ADOS-2的对应关系,样本为42名青少年和成年人,他们在新泽西州一所大学的自闭症实验室同一次访问中完成了ADOS-2和BOSA。结果:ADOS-2模块3和4与BOSA F2的敏感性和特异性具有可比性。这些工具产生了高度相似的分类和项目得分。某些项目得分的差异突出了非常简短观察的局限性,并提出了改进BOSA的潜在领域。结论:在评估青少年和成人时,BOSA可能为考虑诊断特征提供了一个额外的背景,并为研究中的样本表征提供了一个可行的选择。
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引用次数: 0
Associations Between Dietary Patterns, Inflammatory Biomarkers, and Behavioral Symptoms in Children With Autism Spectrum Disorder: A Cross-Sectional Case-Control Exploratory Study. 自闭症谱系障碍儿童饮食模式、炎症生物标志物和行为症状之间的关系:一项横断面病例对照探索性研究
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-02 DOI: 10.1007/s10803-026-07273-9
Peiying Li, Tao Leng, Ru Hao, Zhemiao Yuan, Yue Li, Ling Sun, Bin Zhang
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引用次数: 0
A Comprehensive Investigation of Social Anxiety and Social Evaluative Stress in Autistic Children and Adolescents and Specific Learning Disorders. 自闭症儿童和青少年以及特殊学习障碍患者社交焦虑和社交评价压力的综合调查。
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-01 Epub Date: 2024-11-02 DOI: 10.1007/s10803-024-06624-8
Rachele Lievore, Antonio Maffei, Paola Sessa, Irene C Mammarella

The aim was to investigate trait social anxiety and social evaluative stress in autistic children and adolescents and Specific Learning Disorders (SLD). This was done by evaluating behavioral, subjective, and autonomic responses to the Trier Social Stress Test (TSST). Study 1 included 280 children and adolescents: 60 autistic without intellectual disability (ID), 70 SLD, and 150 non-diagnosed (ND) peers. Study 2 involved 55 participants: 15 autistic without ID, 15 SLD, and 20 ND. The sample was predominantly male. In Study 1, behavioral (quality of public speech) and subjective (valence, arousal, perceived competence, and worries) aspects of social stress were examined. Study 2 expands upon the first study, as physiological responses to social stress were also measured. Trait social anxiety was investigated using both parents' and children's reports in the two studies. Parents of autistic participants and with SLD reported higher trait social anxiety in their children than the parents of ND. No differences emerged from the participants' self-reports, though those autistic and with SLD were assigned lower scores in the public speech quality than ND. Autistic children and adolescents reported lower arousal and higher perceived competence than ND, while those with SLD reported a lower perception of competence. Autistic participants had a decreased cardiac reactivity across the TSST when compared to SLD and ND. Our findings show unique patterns of responses within each group, confirming that the combined investigation of trait anxiety and social stress responses could be a valuable insight in research and clinical practice.

该研究旨在调查自闭症儿童和青少年以及特殊学习障碍(SLD)患者的特质社交焦虑和社交评价压力。具体方法是对特里尔社交压力测试(TSST)的行为、主观和自律神经反应进行评估。研究 1 包括 280 名儿童和青少年:其中包括 60 名无智力障碍的自闭症患者 (ID)、70 名 SLD 患者和 150 名未确诊的同龄人 (ND)。研究 2 涉及 55 名参与者:15 名无智障的自闭症患者、15 名 SLD 患者和 20 名 ND 患者。样本主要为男性。在研究 1 中,对社交压力的行为(公开演讲的质量)和主观(情绪、唤醒、感知能力和担忧)方面进行了研究。研究 2 在第一项研究的基础上进行了扩展,对社交压力的生理反应也进行了测量。在这两项研究中,通过家长和儿童的报告对特质社交焦虑进行了调查。自闭症参与者和患有 SLD 的家长报告其子女的特质社交焦虑高于 ND 的家长。虽然自闭症患者和患有特殊语言障碍的儿童在公共演讲质量方面的得分低于玖玖儿童,但从参与者的自我报告中并未发现差异。自闭症儿童和青少年的唤醒度和能力感知均低于无自闭症儿童和青少年,而患有 SLD 的儿童和青少年的能力感知则低于无自闭症儿童和青少年。与 SLD 和 ND 相比,自闭症参与者在 TSST 中的心脏反应性更低。我们的研究结果表明,每个群体都有自己独特的反应模式,这证明将特质焦虑和社会压力反应结合起来进行调查,对研究和临床实践都有重要意义。
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引用次数: 0
Psychometric Properties of the Chinese Version of the Psy-Flex Among Parents of Children with Autism Spectrum Disorder. 中文版自闭症谱系障碍儿童家长心理测验 Psy-Flex 的心理测量特性。
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-01 Epub Date: 2024-10-27 DOI: 10.1007/s10803-024-06610-0
Si Ni Li, Wai Tong Chien, Stanley Kam Ki Lam, Yuen Yu Chong, Andrew T Gloster

This research aimed to translate the original English version of the Psy-Flex, a scale of psychological flexibility, into Chinese and to test its psychometric properties among parents of children with autism spectrum disorder (ASD). Two phases were conducted: (1) translation from English to Chinese (Psy-Flex-C), followed by a semantic equivalence evaluation between two versions, a pre-test, and an evaluation of the Psy-Flex-C in terms of face validity with 20 parents of autistic children, and content validity of the Psy-Flex-C with eight experts. (2) A cross-sectional study with 248 parents of autistic children was conducted for validation, and a subgroup of 50 participants was randomly selected to assess the test-retest reliability at a 2-week interval. The Psy-Flex-C showed satisfactory semantic equivalence with the original version and demonstrated adequate internal consistency (Cronbach's α = 0.84) and test-retest stability (weighted kappa statistic = 0.88). Concurrent validity was supported by a moderate correlation between the Psy-Flex-C and the Comprehensive Assessment of Acceptance and Commitment Therapy Processes (Pearson's r = 0.54, p < 0.01). The Psy-Flex-C showed a significant mean score difference between parents with high and low parenting stress (t = 5.43, p < 0.001). Similar to the original scale, confirmatory factor analysis showed the best fitting one-factor structure of the Psy-Flex-C (X2/df = 1.62, p = 0.13, RMSEA = 0.05, GFI = 0.99, CFI = 0.99, TLI = 0.98, SRMR = 0.023). The Psy-Flex-C can be a reliable and valid instrument to self-report psychological flexibility in parents of children with ASD. Future research is recommended to test the Psy-Flex-C using diverse samples from different cultures and contexts to enhance its generalizability.

本研究旨在将心理灵活性量表Psy-Flex的英文原版翻译成中文,并在自闭症谱系障碍(ASD)儿童的家长中测试其心理测量学特性。研究分两个阶段进行:(1)从英文翻译成中文(Psy-Flex-C),然后对两个版本进行语义等效性评估、前测,并与20名自闭症儿童家长一起对Psy-Flex-C进行面效度评估,与8名专家一起对Psy-Flex-C进行内容效度评估。(2) 对 248 名自闭症儿童的家长进行了横断面研究以进行验证,并随机抽取了 50 名参与者作为子组,以评估间隔 2 周的重测信度。Psy-Flex-C与原始版本的语义等同性令人满意,并表现出足够的内部一致性(Cronbach's α = 0.84)和重测稳定性(加权卡帕统计量 = 0.88)。Psy-Flex-C 与接纳与承诺疗法过程综合评估之间的中度相关性(Pearson's r = 0.54, p 2/df = 1.62, p = 0.13, RMSEA = 0.05, GFI = 0.99, CFI = 0.99, TLI = 0.98, SRMR = 0.023)证明了两者之间的并行有效性。Psy-Flex-C 可以作为 ASD 儿童家长自我报告心理灵活性的可靠而有效的工具。建议未来的研究使用来自不同文化和背景的不同样本来测试 Psy-Flex-C,以增强其普适性。
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引用次数: 0
A Multi-Method Approach for the Identification of Social Functioning Profiles in Autistic Adolescents and Young Adults Without Intellectual Disability. 采用多种方法识别自闭症青少年和无智力障碍青少年的社会功能特征。
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-01 Epub Date: 2024-10-22 DOI: 10.1007/s10803-024-06607-9
Julie Husmann, Clémence Feller, Laura Ilen, Maude Schneider

Given the diverse nature of the autism spectrum and the complex, context-dependent nature of Social Functioning (SF), this study aims to delineate profiles of SF in young people with autism. Using a multi-method approach, it aims to gain a comprehensive understanding of social difficulties in people with ASD. This study also examines the co-occurrence of mental health issues within these profiles, which can exacerbate social impairments. This understanding is essential for designing interventions and support systems tailored to the specific needs of people with ASD. 49 autistic individuals aged 12 to 30, without intellectual disability were recruited. A combination of measures was used to thoroughly assess SF. Latent profile analysis was employed to identify distinct profiles of social functioning. A control group of 60 non-autistic people served as a reference for these profiles. Mental health difficulties were evaluated through clinical interviews and questionnaires. Two profiles of SF were identified, illustrating two ways of managing the cost of social interactions. Compared to controls, one was more socially withdrawn, spending more time alone, while the other spent a similar amount of time alone but interacted less with others. A different prevalence of mental health problems was observed within these profiles. This study highlighted two SF profiles in young people with ASD, revealing different approaches to managing social interactions. These results show that people with ASD do not have uniform strengths and difficulties of SF, and that mental health problems exert a significant influence on different aspects of SF.

鉴于自闭症谱系的多样性以及社会功能(Social Functioning,SF)的复杂性和依赖性,本研究旨在描述自闭症青少年的社会功能特征。本研究采用多种方法,旨在全面了解自闭症患者的社交障碍。本研究还探讨了这些特征中同时存在的心理健康问题,这些问题可能会加剧社交障碍。这种了解对于设计针对自闭症患者特定需求的干预措施和支持系统至关重要。我们招募了 49 名年龄在 12-30 岁之间、无智力障碍的自闭症患者。研究人员采用多种测量方法对自闭症患者进行了全面评估。采用潜在特征分析来确定社会功能的独特特征。由 60 名非自闭症患者组成的对照组作为这些特征的参照。心理健康困难通过临床访谈和问卷调查进行评估。结果发现了两种自闭症患者的社会功能特征,说明了他们管理社会交往成本的两种方式。与对照组相比,一种人更孤僻,独处时间更长,而另一种人独处时间相近,但与他人交往较少。在这两种情况下,心理健康问题的发生率也不同。这项研究强调了患有自闭症的年轻人的两种 SF 特征,揭示了他们管理社交互动的不同方法。这些结果表明,自闭症患者在自理方面的优势和困难并不一致,心理健康问题对自理的不同方面有很大影响。
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引用次数: 0
Cultural Adaptation of RUBI Intervention with Korean Families (K-RUBI): A Mixed Method Study. 针对韩国家庭的 RUBI 干预(K-RUBI)的文化适应性:混合方法研究。
IF 2.8 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Pub Date : 2026-03-01 Epub Date: 2024-10-26 DOI: 10.1007/s10803-024-06599-6
James D Lee, Veronica Y Kang, Gospel Kim, Sehee Jung, Sean Joo, Haemi Kim, Jinsun Son, Karen Bearss

Challenging behaviors of young autistic children remain a major parenting challenge for many of their family members, including caregivers. Caregivers from underrepresented cultural or linguistic backgrounds may experience exacerbated difficulties related to challenging behaviors due to limited access to culturally sustaining and responsive interventions. Evidence-based behavior parent training programs, such as RUBI, are highly effective in increasing caregivers' capacity in preventing and responding to these behaviors in naturalistic settings using behavior analytic principles. Therefore, the purpose of this study was to examine the effectiveness, acceptability, and feasibility of the culturally adapted RUBI program with underserved families. We conduct a convergent mixed-methods study using a pilot randomized controlled trial with a waitlist control group and focus group interviews with 31 Korean families of young children with or suspected of autism. The Korean RUBI underwent rigorous cultural adaptation using the Cultural Adaptation Checklist, including the use of multiple community advisory boards to inform cultural adaptation. Both quantitative and qualitative findings revealed significant improvements in parents' confidence and knowledge in behavioral principles and decrease in severity of challenging behaviors, which suggest clinical utility of RUBI in an underrepresented, low-resourced community. A culturally adapted intervention for a different population can be perceived as a newly constructed intervention. This study provides insight on the systematic process of cultural adaptation of an established autism intervention and effectiveness, feasibility, and acceptability of RUBI.

对于包括照护者在内的许多家庭成员来说,自闭症幼儿的挑战性行为仍然是养育子女的一大挑战。来自文化或语言背景不足的照护者可能会遇到更多与挑战性行为相关的困难,因为他们难以获得具有文化持续性和响应性的干预措施。以证据为基础的行为家长培训计划(如 RUBI)能够利用行为分析原理,在自然环境中非常有效地提高照顾者预防和应对这些行为的能力。因此,本研究的目的是考察文化适应性 RUBI 计划对服务不足家庭的有效性、可接受性和可行性。我们对 31 个韩国自闭症或疑似自闭症幼儿家庭进行了焦点小组访谈,并采用试验性随机对照试验和候补对照组的方法,开展了一项融合性混合方法研究。韩国的 RUBI 使用文化适应检查表进行了严格的文化适应调整,包括使用多个社区咨询委员会为文化适应提供信息。定量和定性研究结果显示,家长对行为原则的信心和知识有了显著提高,挑战行为的严重程度也有所下降,这表明 RUBI 在代表性不足、资源匮乏的社区中具有临床实用性。针对不同人群的文化适应性干预可以被视为一种新构建的干预。本研究深入探讨了自闭症干预措施的系统文化适应过程,以及 RUBI 的有效性、可行性和可接受性。
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引用次数: 0
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Journal of Autism and Developmental Disorders
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