Hemifacial Microsomia: Psychosocial and Other Sequelae

描述(申请人提供)：半面部巨大症是第二种最常见的颅面畸形，但关于其对受影响儿童的影响的研究很少。我们建议对患有半面部巨大症的儿童进行第一次大规模的随访研究，以评估心理社会、牙科、正畸和医学后遗症。这项研究设计了来自美国和加拿大的280例病例和884名年龄和地理位置匹配的对照组，他们之前参加了1997年至2002年的怀孕风险因素病例对照研究。病例组包括一系列的表型，从孤立的轻度面部不对称到严重的下颌、耳廓和眼眶发育不良并伴有脑神经瘫痪和颅外畸形。在拟议的项目中，将使用专门为这一年龄段开发的有效和可靠的工具，在研究对象6.0至7.5岁时收集数据。信息将由病例和对照及其父母、教师和临床医生提供。我们将使用父母压力指数测量亲子关系和婚姻、家庭和儿童功能的质量；使用儿童行为检查表、社交能力量表(针对父母和教师)、社会能力和行为评估简表以及教师报告表测量亲社会行为、沟通技能、自我控制、同伴受欢迎程度和学习能力；使用PedsQL 4.0测量生活质量和适应功能；使用视觉运动综合测试、皮博迪图画词汇测试和教师报告表测量神经认知。每个心理-社会领域的综合分数将被计算出来。将比较病例和对照之间以及表型病例亚组之间的得分。正畸和牙科治疗的结果将包括龋齿、缺牙、错牙合、牙周状况和整体口腔健康状况。调查问卷将发送给病例和对照牙医，如果适用，还将发送给正畸医生。牙科X光片的复印件将由口腔外科医生和正畸医生检查，并对牙齿不足进行评分。我们将从所有专家那里获得病例的病历复印件。将对医疗记录进行系统审查，以符合所有手术(如正颌手术)、治疗(如抗生素预防)、干预(如助听器)和其他专科会诊的情况。牙科、正畸、外科、听觉和其他结果将根据表型进行描述。

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.