Hemifacial Microsomia: Psychosocial and Other Sequelae

半面畸形：心理社会和其他后遗症

• 批准号: 8499963
• 负责人: MARTHA M. WERLER
• 金额: $ 71.28万
• 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/8499963
• 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; 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; screening; 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.

描述（由申请人提供）：半身微粒细胞（HFM）是第二常见的颅面畸形，但很少有研究其对受影响儿童的影响。我们对6至8岁的HFM儿童进行了首次大规模随访，以评估心理社会和其他后遗症。与人口统计学匹配的对照组相比，与儿童相比，患有影响的儿童的神经心理学表现较差和更高的内在行为问题水平，我们建议在12至14岁时继续跟随该队列。但是，这些发现是基于每个孩子老师管理的两种筛选工具。必须采用更可靠，更精确的评估方法来确认这些发现，以解决更广泛的神经心理能力，并更广泛地测量潜在的介体和主持人。我们将评估神经心理学，社会心理和睡眠结果。 该队列包括来自美国和加拿大的195例病例和570个年龄和地理匹配的对照。在拟议的后续研究中，每例病例将选择2个对照，以进行训练有素的心理学家直接，面对面的评估。数据收集将在波士顿和西雅图站点进行附近的研究科目。同一支的心理训练师团队将旅行，对居住在更远的研究主题进行基于社区的评估。测试电池将涵盖六个领域和13个子域，包括学术成就，语音和语言，记忆，执行功能，处理速度和感知运动技能。听力，视力和言语障碍；睡眠不足的呼吸；麻醉的暴露可能是在HFM与神经心理学和社会心理结局之间的因果途径中，但在6至8岁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潜在介导因子的标准化测量将可以更准确地分析其效果。该病例组包括一系列表型，从分离的轻度面部不对称性到严重的下颌骨，耳肌和轨道性急诊低成症和颅神经瘫痪和颅外畸形，从而可以根据严重程度进行亚组分析。 从我们对HFM的6-8岁儿童进行的后续研究中，受影响的儿童可能需要额外的资源来发挥其最高潜力。近200个受HFM影响的儿童组成的队列是唯一的同类儿童，这是一个难得的机会继续十多年前开始的工作，目的是向受HFM影响的个人的家庭和临床医生提供关键信息。