Hemifacial Microsomia: Psychosocial and Other Sequelae

Hemifacial Microsomia is characterized by an asymmetric face due to underdevelopment of the cheek, chin, mouth, ear, and/or eye. It is one of the most common craniofacial malformations, yet there have been few studies of its impact on affected children. The Hemifacial Microsomia Follow-up study aims to evaluate quality of life, social well-being, and cognitive functioning of early elementary-aged children with this birth defect. In addition, dental health will be assessed and the number and types of medical procedures will be tabulated.

The study population includes over 250 children with hemifacial microsomia or ear anomalies and over 850 control children without any craniofacial malformations. Cases and controls come from across the U.S. and Canada ; their mothers were originally enrolled in a separate study of pregnancy risk factors for this malformation. For the follow-up study, mothers, cases, and controls answer questions about quality of life, behaviors, and social adjustment. Teachers of cases and controls answer similar questions and assess the child’s ability to match pictures to words and to draw simple objects. Case and control dentists answer questions about caries, hypodontia, malocclusion, periodontal status, and overall oral health. Medical records will be systematically reviewed to tally all surgeries, treatments, interventions, and other speciality consultations.

DNA collected by buccal brushes will be analyzed for genetic risk factors associated with vasculogenesis and hemostasis. A case-parent triad hybrid design will be employed. This work is being conducted by Dr. Jacqueline Starr and University of Washington.