Hemifacial Microsomia: Psychosocial and Other Sequelae

半面畸形：心理社会和其他后遗症

• 批准号: 7885782
• 负责人: MARTHA M. WERLER
• 金额: $ 83.09万
• 依托单位: BOSTON UNIVERSITY MEDICAL CAMPUS
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-07-01 至 2015-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7885782
• 关键词: 12 year old; 14 year old; 8 year old; Academic achievement; Address; Adolescence; Adolescent; Affect; Age; Anesthesia procedures; Appearance; Area; Boston; Canada; Child; Communities; Comorbidity; Congenital Abnormality; Control Groups; Cranial nerve palsies; Data Collection; Environment; Environmental Risk Factor; Face; Facial asymmetry; Family; Follow-Up Studies; Future; Goals; Hearing; Impairment; Income; Individual; Intelligence; Language; Learning; Life; Mandible; Maternal Age; Measurement; Measures; Mediating; Mediator of activation protein; Memory; Methods; Modeling; Motor Skills; Operative Surgical Procedures; Outcome; Pathway interactions; Pattern; Performance; Persons; Phase; Phenotype; Problem behavior; Psychosocial Factor; Quality of life; Relative (related person); Research; Resources; Risk Factors; Screening procedure; Severities; Site; Sleep; Sleep Apnea Syndromes; Sleep disturbances; Snoring; Speech; Structure; Study Subject; Subgroup; Testing; Training; Travel; Vision; Work; base; case control; clinically significant; cohort; craniofacial; executive function; expectation; externalizing behavior; follow-up; impression; instrument; malformation; neuropsychological; processing speed; psychosocial; public health relevance; sex; social; social communication; social skills; teacher; visual motor

DESCRIPTION (provided by applicant): Hemifacial microsomia (HFM) is the second most common craniofacial malformation, yet there have been few studies of its impact on affected children. We have conducted the first large scale follow- up study of 6 to 8 year old children with HFM to evaluate psycho-social and other sequelae. We propose to continue to follow this cohort at 12 to 14 years of age after having identified that affected children had worse neuropsychological performance and higher levels of internalizing behavior problems compared to children in a demographically-matched control group. However, these findings were based on two screening instruments administered by each child's teacher. It is essential to confirm these findings with more reliable and precise assessment methods that address a wider array of neuropsychological abilities, and with more extensive measurement of potential mediators and moderators. We will evaluate neuropsychological, psychosocial, and sleep outcomes. The cohort includes 195 cases and 570 age- and geographically-matched controls from across the U.S. and Canada. In the proposed follow up study, 2 controls per case would be selected for direct, in-person assessment by trained psychometrists. Data collection would take place at the Boston and Seattle sites for nearby study subjects. The same team of psychometrists will travel for community- based assessments of study subjects that live farther away. Test batteries will cover six domains and 13 sub-domains, including academic achievement, speech and language, memory, executive function, processing speed, and perceptual motor skills. Hearing, vision, and speech impairments; sleep disordered breathing; and anesthesia exposure may be in the causal pathway between HFM and neuropsychological and psychosocial outcomes, but were not adequately measured in the study of 6 to 8 year olds. In the proposed follow-up study, standardized measurement of these important potential mediating factors on both HFM cases and controls will allow more accurate analysis of their effects. The case group includes a range of phenotypes from isolated mild facial asymmetry to severe mandibular, auricular, and orbital hypoplasia with cranial nerve paralysis and extracranial malformations, allowing subgroup analyses according to severity. Findings from our follow up study of 6-8 year olds with HFM suggest that affected children may need extra resources to achieve their highest potential. This cohort of almost 200 children affected with HFM is the only of its kind, offering the rare opportunity to continue the work that began more than ten years ago, with the goal of providing key information to families and clinicians of individuals affected with HFM. PUBLIC HEALTH RELEVANCE: Children with hemifacial microsomia, marked by asymmetric underdevelopment of parts of the face, appear to have more internalizing behavior problems and worse neuropsychological performance at ages 6-8. The proposed study will employ more accurate measurements to better characterize these deficits. Information from this study will help future families of children with HFM and their clinicians regarding reasonable expectations about the chances of neuropsychological problems.

描述（由申请人提供）：半面矮小症（HFM）是第二常见的颅面畸形，但很少有关于其对受影响儿童影响的研究。我们进行了第一次大规模的随访研究，6至8岁的儿童与HFM，以评估心理社会和其他后遗症。我们建议在12至14岁时继续跟踪这一队列，因为与人口统计学匹配的对照组儿童相比，受影响儿童的神经心理表现更差，内化行为问题水平更高。然而，这些发现是基于每个孩子的老师管理的两个筛选工具。有必要用更可靠和精确的评估方法来证实这些发现，这些方法可以解决更广泛的神经心理学能力，并对潜在的中介者和调节者进行更广泛的测量。我们将评估神经心理学，心理社会学和睡眠结果。 该队列包括来自美国和加拿大的195例病例和570例年龄和地理匹配的对照。在拟定的随访研究中，每例病例将选择2例对照，由经过培训的心理测量师进行直接、亲自评估。将在波士顿和西雅图研究中心收集附近研究受试者的数据。同一组心理测量师将前往社区对居住较远的研究对象进行评估。测试组合将涵盖6个领域和13个子领域，包括学业成绩、言语和语言、记忆、执行功能、处理速度和知觉运动技能。听力、视力和语言障碍;睡眠呼吸障碍;麻醉暴露可能是HFM与神经心理学和心理社会学结果之间的因果关系，但在6至8岁奥尔兹的研究中没有充分测量。在拟议的后续研究中，对HFM病例和对照组的这些重要的潜在介导因素进行标准化测量，将有助于更准确地分析其影响。病例组包括一系列表型，从孤立的轻度面部不对称到严重的下颌骨、耳和眼眶发育不全伴颅神经麻痹和颅外畸形，允许根据严重程度进行亚组分析。 我们对6-8岁HFM奥尔兹的随访研究结果表明，受影响的儿童可能需要额外的资源来实现他们的最大潜力。这个由近200名受HFM影响的儿童组成的队列是同类中唯一的，为继续十多年前开始的工作提供了难得的机会，目标是为受HFM影响的家庭和临床医生提供关键信息。 公共卫生相关性：半侧颜面矮小症的儿童，以脸部部分不对称的发育不全为特征，在6-8岁时似乎有更多的内化行为问题和更差的神经心理表现。拟议的研究将采用更准确的测量方法来更好地描述这些缺陷。这项研究的信息将有助于未来HFM儿童的家庭及其临床医生对神经心理问题的可能性的合理预期。