Utah - Quality of Life and Craniofacial Anomalies
Learning from people and families with craniofacial anomalies
Why we care
- Craniofacial anomalies can affect health and quality of life from birth through adulthood. Craniofacial anomalies include orofacial clefts (cleft lip, cleft palate, and cleft lip and palate), and craniosynostosis (premature fusion of cranial sutures, leading to abnormal growth and shaping of the skull and face). Craniosynostosis can be syndromic and affect facial appearance considerably.
- Craniofacial anomalies are relatively common. Orofacial clefts affect one in every 600-750 newborns worldwide.1 In the United States, an estimated 6,500 affected babies are born every year. In Utah, however, orofacial clefts are even more common, and affect 1 in 450 babies2, one of the highest rates in the world.1
- Affected children can be at increased risk for illness and disability, including impaired feeding, speech, and hearing .3 They will face surgeries, sometimes several over their life, with attending risks of complications. They will confront social and psychological challenges because these conditions affect facial appearance. And families typically face additional social, personal, and financial issues that can impact family life.
What is quality of life?
- Health related quality of life (or quality of life, QoL, for short) summarizes how we perceive health affecting our daily activities and our general well-being. As such, its increasingly considered an important aspect of global well-being, as defined by the World Health Organization. It is also increasingly used in cost-effectiveness studies of interventions.
What would we like to know about health and quality of life?
- A major gap in our understanding of quality of life is the scarcity of well-designed studies among children and families with birth defects in general, and with craniofacial anomalies in particular.4
- There are also few validated tools for children and families.5, 6 These tools tend to assess few generic, broad aspects of quality of life (e.g, mobility, self-care, communication) and were developed among children with specific chronic childhood conditions (e.g., pediatric cancer).5-8 Many researchers and experts are concerned that generic tools may not assess adequately the QoL domains that are specifically affected in children with birth defects.6, 7, 9-13
- A third gap is the lack of population-based data. Many of the published studies are clinic-based, and these are typically prone to the distorting effects of selection and other biases. A distinct strength of the proposed study is the collaboration with the state-wide Utah Birth Defect Registry to define some of our study populations. This will allow us to conduct one of the first population-based assessments of QoL ever made among children with birth defects.
What we would like to do with your help
- The proposed pilot, which focuses on craniofacial anomalies, would begin to fill these gaps. Our strategy has three components.
- First, we will conduct face-to-face interviews with two groups of families, one with children with craniofacial anomalies and one group with children without craniofacial anomalies
- Second, we will conduct focus groups with different, smaller groups of parents
- Third, we will do a mail survey statewide to reach a larger group of affected families.
- The study is lead by the Utah Birth Defect Network, which is part of the Utah Department of Health, with collaborators from the University of Utah and IHC, and is funded by a grant from the Centers for Disease Control and Prevention to the Utah Birth Defect Network.
Final notes and contact information
- The proposed study is primarily led by the Utah Birth Defect Network, which is part of the Utah Department of Health, with collaborators from the University of Utah and IHC, and is funded by a grant from the Centers for Disease Control and Prevention to the Utah Birth Defect Network.
- The study data will be collected through written questionnaires (the three tools described above) and through recordings and notes taken during the home visit of focus groups.
- Participating families will be sent a letter explaining the study and inviting them to participate. The letter will be followed by a phone call for consent, enrollment, and interview scheduling.
- Families in the pilot survey study will be offered a home visit for a face-to-face interview by a trained interviewer (if the family prefers, a phone interview can be substituted).
- Families that are part of the focus group will be invited to a convenient location that will be decided together with the support groups.
- Responsible for recruitment and interviewing will be Ms. Toni Fightmaster, who is a Study Coordinator and has extensive experience recruiting and interviewing participants. Ms. Fightmaster will be responsible for the informed consent process.
- Responsible for the study will be Dr Lorenzo Botto, MD, from the Utah Birth Defect Network and the Department of Pediatrics, Univeristy of Utah.
- If you have questions or would like to talk to us, please call 801-257-0566 to speak to someone at the Utah Birth Defects Network, or 801-587-9550 to speak to Toni Fightmaster.
1. Mossey PA, Little J. Epidemiology of oral clefts: an international perspective. In: Wyszynski DF, ed. Cleft lip and palate: from origin to treatment. Oxford: OUP; 2002:127-58.
2. Orofacial Clefts. 2005. (Accessed 16 December 2005, 2005, at http://www.health.utah.gov/birthdefect/defects/orofacial.html.)
3. Wyszynski DF. Cleft Lip and Palate: From Origin to Treatment. First ed. Oxford: OUP; 2002.
4. Kapp-Simon KA. Psychological care of children with cleft lip and palate in the family. In: Wyszynski DF, ed. Cleft lip and palate: from origin to treatment. Oxford: OUP; 2002:412-23.
5. Eiser C, Mohay H, Morse R. The measurement of quality of life in young children. Child Care Health Dev 2000;26(5):401-14.
6. Eiser C, Morse R. A review of measures of quality of life for children with chronic illness. Arch Dis Child 2001;84(3):205-11.
7. Clarke SA, Eiser C. The measurement of health-related quality of life (QOL) in paediatric clinical trials: a systematic review. Health Qual Life Outcomes 2004;2:66.
8. Gerharz EW, Eiser C, Woodhouse CR. Current approaches to assessing the quality of life in children and adolescents. BJU Int 2003;91(2):150-4.
9. Eiser C. Use of quality of life measures in clinical trials. Ambul Pediatr 2004;4(4 Suppl):395-9.
10. Eiser C, Cotter I, Oades P, Seamark D, Smith R. Health-related quality-of-life measures for children. Int J Cancer Suppl 1999;12:87-90.
11. Locker D, Jokovic A, Tompson B. Health-related quality of life of children aged 11 to 14 years with orofacial conditions. Cleft Palate Craniofac J 2005;42(3):260-6.
12. Marcusson A. Adult patients with treated complete cleft lip and palate. Methodological and clinical studies. Swed Dent J Suppl 2001(145):1-57.
13. Moons P, Van Deyk K, Budts W, De Geest S. Caliber of quality-of-life assessments in congenital heart disease: a plea for more conceptual and methodological rigor. Arch Pediatr Adolesc Med 2004;158(11):1062-9.
14. Varni JW, Burwinkle TM, Seid M, Skarr D. The PedsQL 4.0 as a pediatric population health measure: feasibility, reliability, and validity. Ambul Pediatr 2003;3(6):329-41.
15. Jokovic A, Locker D, Tompson B, Guyatt G. Questionnaire for measuring oral health-related quality of life in eight- to ten-year-old children. Pediatr Dent 2004;26(6):512-8.
16. Locker D, Jokovic A, Clarke M. Assessing the responsiveness of measures of oral health-related quality of life. Community Dent Oral Epidemiol 2004;32(1):10-8.
17. Varni JW, Sherman SA, Burwinkle TM, Dickinson PE, Dixon P. The PedsQL Family Impact Module: preliminary reliability and validity. Health Qual Life Outcomes 2004;2:55.