Hemifacial Microsomia: Psychosocial and Other Sequelae

描述（由申请人提供）：半面小畸形是第二常见的颅面畸形，但很少有关于其对患儿影响的研究。我们建议对患有半面短小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。研究设计包括280例病例和884例年龄和地理位置匹配的对照，这些对照来自美国和加拿大，他们之前参加了1997年至2002年怀孕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、耳廓和眶发育不全伴脑神经麻痹和颅外畸形。在拟议的项目中，数据将在研究对象6.0至7.5岁时收集，使用专门为该年龄组开发的有效可靠的工具。病例和对照者及其家长、教师和临床医生将提供信息。我们将用养育压力指数来衡量亲子关系的质量以及婚姻、家庭和儿童的功能；使用《儿童行为检查表》、《社会胜任力量表》（家长和教师均可使用）、《社会胜任力与行为评价简表》和《教师报告表》对亲社会行为、沟通能力、自我控制、同伴受欢迎程度和学业能力进行测试；使用PedsQL 4.0提高生活质量和自适应功能；通过视觉运动整合测验、皮博迪图片词汇测验和教师报告表进行神经认知测试。将计算每个心理-社会领域的综合分数。将比较病例和对照组之间以及表型病例亚组之间的得分。正畸和牙科结果将包括龋齿，牙下畸形，错牙合，牙周状况和整体口腔健康。调查问卷将发给病例和对照牙医，如果适用的话，还会发给正畸医生。口腔外科医生和正畸医生将检查牙科x光片的复印件，并对下颌畸形进行评分。我们将向所有专家索取病例的医疗记录副本。将对医疗记录进行系统审查，以统计所有手术（例如，正颌），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描述的情况。

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.