Hemifacial Microsomia: Psychosocial and Other Sequelae

描述（由申请人提供）：半面畸形（HFM）是第二常见的颅面畸形，但对其对受影响儿童的影响的研究很少。我们对 6 至 8 岁的 HFM 儿童进行了首次大规模随访研究，以评估心理社会和其他后遗症。我们发现，与人口统计匹配的对照组儿童相比，受影响的儿童具有更差的神经心理学表现和更高水平的内化行为问题后，我们建议继续对 12 至 14 岁的队列进行跟踪。然而，这些发现是基于每个孩子的老师使用的两种筛查工具。必须通过更可靠、更精确的评估方法来证实这些发现，这些方法涉及更广泛的神经心理学能力，并对潜在的中介和调节因素进行更广泛的测量。我们将评估神经心理学、心理社会和睡眠结果。 该队列包括来自美国和加拿大的 195 例病例和 570 名年龄和地理位置匹配的对照。在拟议的后续研究中，每个病例将选择 2 个对照，由训练有素的心理测量师进行直接、面对面的评估。数据收集将在波士顿和西雅图站点针对附近的研究对象进行。同一个心理测量师团队将前往对居住较远的研究对象进行基于社区的评估。测试组将涵盖 6 个领域和 13 个子领域，包括学术成就、言语和语言、记忆、执行功能、处理速度和知觉运动技能。听力、视力和言语障碍；睡眠呼吸紊乱；麻醉暴露可能是 HFM 与神经心理和心理社会结果之间的因果关系，但在 6 至 8 岁儿童的研究中尚未得到充分测量。在拟议的后续研究中，对这些重要的潜在中介因素对 HFM 病例和对照的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、耳廓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 儿童进行的后续研究结果表明，受影响的儿童可能需要额外的资源才能发挥最大潜力。这个由近 200 名 HFM 受影响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，其目标是向 HFM 受影响者的家庭和临床医生提供关键信息。 公众健康相关性：患有半面部短小症的儿童，其特征是面部部分不对称发育不良，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学表现。拟议的研究将采用更准确的测量来更好地表征这些缺陷。这项研究的信息将帮助未来患有 HFM 的儿童的家庭及其临床医生对神经心理问题的可能性做出合理的预期。

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.