Hemifacial Microsomia: Psychosocial and Other Sequelae

描述（由申请人提供）：半面矮小是第二常见的颅面畸形，但很少有研究其对受影响的儿童的影响。我们建议进行第一次大规模的随访研究的儿童受影响的半侧颜面矮小，以评估心理社会，牙科，正畸，和医疗后遗症。该研究设计包括来自美国和加拿大的280例病例和884例年龄和地理位置匹配的对照，这些病例和对照先前在1997年至2002年期间参加了妊娠风险因素的病例对照研究。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、耳廓和眼眶发育不全伴颅神经麻痹和颅外畸形。在拟定项目中，将使用专为该年龄组开发的有效和可靠的工具，在研究受试者年龄为6.0至7.5岁时收集数据。信息将由病例和对照组及其父母、教师和临床医生提供。我们将用父母压力指数来衡量亲子关系和婚姻，家庭和儿童功能的质量;用儿童行为检查表，社会能力量表来衡量亲社会行为，沟通技巧，自我控制，同伴受欢迎程度和学术能力（家长和教师）、社会能力和行为评估简表和教师报告表;用PedsQL 4.0评估生活质量和适应功能;用视觉运动整合测试、皮博迪图片词汇测试和教师报告表评估神经认知。将计算每个心理社会领域的综合评分。将比较病例和对照之间以及表型病例亚组之间的评分。正畸和牙齿的结果将包括龋齿，缺牙，咬合不正，牙周状况，和整体口腔健康。问卷将被发送给病例和对照牙医，如果适用，还将发送给牙科医生。牙科X光片的副本将由口腔外科医生和牙科医生进行检查，并对缺牙进行评分。我们将从所有专家那里获得病例的医疗记录副本。将对医疗记录进行系统性审查，以记录所有手术（例如，正颌的），治疗（例如，抗生素预防），干预（例如，助听器）和其他专业咨询。牙科，正畸，外科，听觉和其他结果将根据表型的情况下进行描述。

DESCRIPTION (provided by applicant): Hemifacial microsomia is the second most common craniofacial malformation, yet there have been few studies of its impact on affected children. We propose to conduct the first large scale follow-up study of children affected with hemifacial microsomia, to evaluate psycho-social, dental, orthodontic, and medical sequelae. The study design features 280 cases and 884 age and geographically matched controls from across the U.S. and Canada who were previously enrolled in a case control study of pregnancy risk factors from 1997 to 2002. 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. In the proposed project, data will be collected when study subjects are 6.0 to 7.5 years of age, using valid and reliable tools that were specifically developed for this age group. Information will be provided by cases and controls and their parents, teachers, and clinicians. We will measure quality of the parent-child relationship and marital, family, and child functioning with the Parenting Stress Index; pro-social behaviors, communication skills, self-control, peer popularity, and academic ability with the Child Behavior Checklist, Social Competance Scales (for both parents and teachers), Social Competance and Behavior Evaluation Short Form, and the Teacher Report Form; quality of life and adaptive functioning with PedsQL 4.0; and neurocognition with the Visual Motor Integration test, Peabody Picture Vocabulary Test-Ill, and Teacher Report Form. Composite scores will be calculated for each psycho-social domain. Scores will be compared between cases and controls, and among phenotypic case subgroups. Orthodontic and dental outcomes will include caries, hypodontia, malocclusion, periodontal status, and overall oral health. Questionnaires will be sent to case and control dentists and, if applicable, orthodontists. Copies of dental radiographs will be examined by an oral surgeon and an orthodontist and scored for hypodontia. We will obtain copies of cases' medical records from all specialists. Systematic review of medical records will be performed to tally all surgeries (e.g., orthognathic), treatments (e.g., antibiotic prophylaxis), interventions (e.g., hearing aids), and other speciality consultations. Dental, orthodontic, surgical, auditory, and other outcomes will be described for cases according to phenotype.