Editor's Note: Thank you to everyone who contributed to make this research study possible. Your lives, experiences, and opinions matter to the future of quality care for all people in the craniofacial community. This one and others have positive outcomes because of your contributions. Please help additional, ongoing research study opportunities by looking through to see if you qualify for any of these listed in this blog post.
Healthcare and Psychosocial Experiences of Individuals with Craniofacial Microsomia and Microtia
Daniela Luquetti (MD, PhD) at Seattle Children's Hospital, Craniofacial Center; University of Washington School of Medicine, Department of Pediatrics, Seattle, WA, USA.
Nicola M Stock (PhD) at Centre for Appearance Research, University of the West of England, Bristol, UK.
Carrie L Heike (MD, MS) at Seattle Children's Hospital, Craniofacial Center; University of Washington School of Medicine, Department of Pediatrics, Seattle, WA, USA.
Alexis L Johns (PhD) at Division of Plastic and Maxillofacial Surgery; Children's Hospital Los Angeles, Los Angeles, CA, USA.
Background
Craniofacial microsomia (CFM) affects approximately 1,100 babies in the U.S. each year. CFM is also known as Goldenhar syndrome, hemifacial microsomia or oculo-auriculo-vertebral spectrum. It is primarily characterized by underdevelopment of the ear and jaw and may be associated with additional congenital anomalies. Medical and surgical treatments can be quite complex, involving multiple medical specialists and long-term follow-up. However, little is known about patients’ and caregivers’ experiences of healthcare.
The objective of this study was to explore the diagnostic, treatment-related and early psychosocial experiences of families with CFM with the aim of improving future healthcare delivery.
Method
An online anonymous survey was used to collect data from nine adult patients and 42 caregivers of children affected by CFM. Responses from the study participants were grouped into key themes by two psychologists.
Research Findings
The key themes related to diagnostic, treatment-related, and psychosocial experiences include:
Challenges with medical providers included poor treatment guidance, conflicting medical recommendations, and poor coordination among providers. Participants also believed medical providers lacked knowledge of CFM and often did not show empathy.
Participants identified specific treatments which they had found helpful and expressed an appreciation for medical providers who communicated clearly when outlining treatment plans. Participants also wanted medical providers to better inform and involve patients in their own care, and respect their preferences, needs and values. They also want providers to have positive attitudes, and to provide reassurance, invest time, coordinate care, and allow for parental control.
Suggestions for improving care included: better communication and coordination in relation to treatment(s), making appropriate referrals, being better informed about CFM, and supporting patient advocacy.
Confusion about the causes of CFM was provoked by inaccurate or incomplete information about CFM. Some participants attributed CFM to random occurrence. Others suspected a genetic component, with some noting a pattern in the family.
Stressors in the medical setting included difficulties accessing care, the burden of ongoing treatment, and a lack of insurance coverage. Participants suggested that health providers could assist with insurance coverage, be more geographically accessible, and connect patients to others with similar diagnoses.
Hearing difficulties were reported to have an impact across settings, and participants identified related concerns for language development. When asked specifically about hearing aid use, about 20% of caregivers reported that children were motivated by the benefit of improved hearing. When asked about ways to help promote hearing aid adherence, caregivers suggested introducing aids at a young age, adjusting for comfort, praising use of aids, practicing coping skills for questions about the aid, and using a reward system.
Teasing was reported to be a concern by just under half of participants. Self-awareness of facial differences began around age 3, and teasing at around age 6. Teasing often involved name-calling. Some children responded to the teasing by ignoring it, while others were upset or did not know how to respond.
Sources of support included websites, family members and medical providers. Participants also noted that speaking with friends and communicating with others who have similar diagnoses could be helpful. Interestingly, one third of participants identified scientific research and articles as important for coping.
Adults with CFM offered advice for children with similar diagnoses, including making informed medical decisions, having self-confidence, reframing their experience when they are teased, and openly communicating about their diagnosis.
Caregivers had advice for new parents. The most common one was reassurance that their child is a typical child. They described positive reframing, seeking CFM information and expert care, acceptance, and having patience to be helpful strategies. Additional advice was to seek online support, understand that it was normal to experience a range of emotions, and to be open about the diagnosis. They also advised caregivers to teach their children coping skills and confidence.
Participants ranked “understanding diagnosis and treatment” as a top priority for future research.
Conclusions
This study showed that patients and caregivers value clear, empathic, and patient-focused communication and coordination of care.
The findings reinforce the importance of ongoing psychological assessment to plan interventions for those in need.
Treatment of CFM could be improved by establishing diagnostic criteria and standardized treatment guidelines, as well as ongoing research and education about the causes of CFM. Treatment could also be improved by making providers aware of the value of a team treatment approach to CFM, and the location of resources in their area for ongoing treatment.
Dissemination
The findings of this study were shared with health providers at the annual conference of the American Cleft Palate-Craniofacial Association (US) and the Appearance Matters conference (UK) in 2018. Two articles have also been published in leading academic journals in the field (see below).
Acknowledgments
Thank you to Ear Community, FACES: The National Craniofacial Association, Children’s Craniofacial Association and the Atresia-Microtia group for posting the survey and for their help with dissemination. Most of all, thank you to everyone who took part in the study for sharing their experiences.
Contact
References
Luquetti DV, Brajcich MR, Stock NM, Heike, CL, Johns AL. Healthcare and Psychosocial Experiences of Individuals with Craniofacial Microsomia: Patient and Caregivers Perspectives. International Journal of Pediatric Otorhinolaryngology 2018; 107:164-175. https://www.ncbi.nlm.nih.gov/pubmed/29501301
Johns AL, Luquetti DV, Brajcich MR, Aspinall C, Heike CL, Stock NM. In their own words: Stakeholder’s perspectives on stressors, resources, and recommendations in craniofacial microsomia care. The Journal of Craniofacial Surgery. 2018; 29(8): 2198-2205. https://www.ncbi.nlm.nih.gov/pubmed/30334912
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