Carrie L. Heike

Growing up with craniofacial microsomia (CFM) can impact many areas of life, yet little is understood about the psychosocial factors that influence outcomes. The aim of this study was to gain preliminary insight into the factors associated with psychological distress and well-being in adults with CFM, with the longer-term goal of informing larger studies, screening practices, and intervention. Twenty-nine adults with CFM responded to an online cross-sectional survey about their psychological health. Participants reported significantly more symptoms of anxiety and depression compared with published norms. Approximately one-quarter met screening criteria for post-traumatic stress. Participants also reported significantly lower levels of body esteem and global self-worth, alongside indications of attachment difficulties in relationships. Factors associated with more favorable outcomes included greater satisfaction with hearing, facial appearance, and speech; higher levels of optimism; and greater satisfaction with friendships in adulthood. A greater number of CFM features and a higher number of self-reported mental health diagnoses were associated with higher levels of distress. While this study represents a small, clinically impacted group of adults with CFM, findings align with similar studies and highlight a subset of adults in need of psychological support. The findings of this study can be tentatively used to inform future research and clinical practice.

Objective: To develop and compare models predicting which infants with cleft lip and/or palate (CL/P) will be underweight at 4 months, using multicenter electronic health record data. Design: Using data from birth to 3 months, we evaluated 63 anthropometric, clinical, healthcare-utilization, and demographic variables across 6 regression and machine-learning models to identify the strongest predictors of underweight status, overall and by cleft type. Setting: Ten US children's hospitals in PEDSnet, a national pediatric learning health network, 2009 to 2024. Patients: Infants with CL/P aged 0 to 4.5 months. Main Outcome Measure: Underweight status at 4 months (range 3.5-4.5), defined as weight-for-age z-score (WAZ) < −2. Results: Among 5717 infants with CL/P (19% cleft lip, 35% cleft lip and palate, 46% cleft palate), 25.9% were underweight at 4 months. The strongest predictors were early (0-3 months) growth measures: mean WAZ (58% of predictive value), WAZ velocity, mean length-for-age z-score (LAZ), and LAZ velocity, plus the Child Opportunity Index (a neighborhood socioeconomic measure; ∼2%). These 5 predictors accounted for >85% of predictive value in every cleft type. All 6 models discriminated similarly (area under the receiver operating characteristic curve 0.87-0.90); GPBoost, which also accounts for hospital differences, produced risk estimates closest to the actual proportion of underweight infants. Conclusions: Routine early-life growth measures (WAZ, LAZ, and their trajectories), together with neighborhood socioeconomic status, can identify infants with cleft at elevated risk of being underweight before 4 months, helping craniofacial and primary care teams provide timelier feeding and nutrition support and referrals to the highest-risk infants.

Limited research has focused on parents' perspectives of their children’s craniofacial treatment experiences, including the frequency of medical events, post-traumatic stress symptoms, and resilience. This cross-sectional study utilized an online survey and recruited participants from 3 pediatric hospitals, support organizations, and social media. Participants were mothers (N=45) of children (55.6% female; M _age =7.7±4.5) with cleft lip/palate (46.7%), craniosynostosis (46.7%), or other craniofacial diagnoses (6.6%). Most children had completed 5 to 10 surgeries (51.1%). Participants completed the Medical Experience Checklist, Child Stress Disorders Checklist (CSDC), the PTSD Checklist (PCL-5), the Craniofacial Experiences Questionnaire-Parent version (CFEQ-P), the Connor-Davidson Resiliency Scale-10 (CD-RISC-10), and open-ended questions about their child’s medical care experiences. The most frequent medical events reported were ICU hospitalizations (71.1%), their child exhibiting fear of needles or blood draws (68.9%), and experiencing frightening sights or sounds in the hospital (68.9%). CSDC scores were lower than a sample with burns (Cohen d =−0.63), but higher than a sample with congenital heart conditions (Cohen d =0.32). Fourteen percent of mothers met lifetime criteria for PTSD, which is higher than the United States female lifetime prevalence rate of 8% to 12%. Parents reported significantly lower resilience than community norms (Cohen d =−0.79). While CFEQ-P stressors were similar to norms, positive CFEQ-P aspects were significantly higher than norms (Cohen d =−0.45). Content analysis of 1612 open-ended question responses yielded 20 codes in 3 categories: (1) concerns for the child’s craniofacial care; (2) experiences with care providers; and (3) sources of support and distress. Additional research and clinical strategies are needed to reduce stressors and promote resilience across craniofacial care.

Objective: To explore factors associated with caregiver psychological distress and family quality of life (QoL) in craniofacial microsomia (CFM). Design: Online cross-sectional survey. Participants: Forty caregivers (38 mothers) of children with CFM. Outcome Measures: Pediatric Quality of Life Inventory (Family Impact Module), Perceived Stress Scale, Hospital Anxiety and Depression Scale, and PTSD Checklist. Results: Most caregivers (75%) were in “borderline” or “concern” risk categories for QoL. Caregivers reported significantly more symptoms of anxiety, depression, stress, and PTSD than norms. Factors associated with caregiver distress and family QoL included the number of child CFM characteristics and prior surgeries, and caregivers’ healthcare satisfaction, life orientation, resilience, and relationship satisfaction. Conclusions: This study represents a small, self-selected, clinically impacted group of caregivers. Yet, findings align with similar studies and highlight a subset of families in need of psychological support. The findings can be tentatively used to inform larger studies, screening practices, and intervention targets.

Objective: To propose recommendations for ethical, participant-centered clinical data sharing in craniofacial research. Design: Series of deliberative multidisciplinary expert working group meetings to develop recommendations. Setting: Two 1-h virtual meetings; one all-day hybrid meeting. Patients, Participants: Working group ( n = 16) comprised individuals with expertise in craniofacial research, bioethics, and patient/caregiver advocacy, as well as lived experience of craniofacial conditions. Interventions: The working group first reviewed prior empirical data about research participant attitudes about data sharing then drafted initial recommendations that were built on the data and the group's collective expertise. Recommendations were iteratively refined until the group agreed upon their final presentation. Main outcome measures: Working group endorsement of recommendations. Results: The working group produced 16 recommendations that addressed considerations for primary and secondary researchers, data repositories, and the craniofacial research community across 5 domains. These domains address: (1) research team communication with participants, (2) data collection and protections, (3) data governance, (4) education for researchers, and (5) remaining research gaps. Recommendations highlight the importance of prioritizing the experiences of those with lived experience of craniofacial conditions in decision-making about data sharing, navigating varied perspectives on privacy protections for facial images, and striving to implement trustworthy data sharing and governance practices. Conclusions: This summary of recommendations offers guidance for the craniofacial research community to advance participant-centered clinical data sharing practices. Ethical data sharing that accounts for participants’ experiences and values has potential to advance scientific research and improve outcomes for individuals with craniofacial conditions, their families, and their communities.

Objective: To describe the perspectives of participants and caregivers of pediatric participants on data sharing in clinical craniofacial research. Design: Qualitative interview study of research participants’ attitudes about data sharing. Setting: One-to-one interviews via web conferencing. Patients, Participants: Adults (n = 7) and adolescents (n = 8) with craniofacial microsomia and caregivers (n = 20) of children with craniofacial microsomia who previously participated in clinical craniofacial research. Interventions: Semistructured interview guide addressing 4 main topics: (1) expectations about data collection and sharing; (2) preferences and limitations for data sharing; (3) consent/assent language; and (4) gaps and future needs. Main Outcome Measure(s): We iteratively developed a qualitative codebook based on inductive interview transcript review and conducted a thematic analysis of coded data. Results: We identified 5 themes within participants’ descriptions of their attitudes about data sharing: (1) participants hope that research participation and data sharing will advance science for the benefit of the craniofacial community; (2) sharing images is broadly recognized as important for craniofacial research but raises discomfort for some; (3) participants generally view broad data sharing and use positively but raise concerns focused on harm to the craniofacial community; (4) trustworthy researchers and data protections provide reassurance for sharing data; and (5) decisions about pediatric data sharing are complex in the context of developing autonomy. Conclusions: These findings illustrate ethical complexities for data sharing in clinical craniofacial research related to balancing community-oriented benefits and risks, providing control over sharing images, ensuring researcher trustworthiness, and respecting a child's future autonomy interests.

Objective: To conduct a systematic review on growth in young children with a cleft of the lip and/or palate (“cleft”). Design: We searched 6 electronic databases for articles published on or before February 9, 2025 using MESH terms cleft lip/palate, growth, body weights/measures. We screened titles and abstracts iteratively using Rayyan's screening tool and manual review. Eligible studies underwent full-text review and anthropometric data extraction and synthesis. We excluded studies/estimates with N < 20. Setting: All published studies that reported anthropometric measures on children with cleft. Patients/Participants: Children with cleft of age 0-24 months. Main Outcome Measures: Comparable measures including weight and length percentiles, failure to thrive (typically z -scores (WAZ), length-for-age z -scores (LAZ), moderate/severe underweight (WAZ < −2), and moderate/severe stunting (LAZ < −2). Results: 289 articles were selected for full-text review following title/abstract screening of the initially identified 5561 unique articles. 143 met the eligibility criteria, 46 of which had comparable anthropometric estimates. The estimates in most studies were lower than expected based on referent growth charts, and demonstrated mean WAZ near one standard deviation below the mean or between 10% and 50% of infants had failure to thrive and/or were underweight. Measures of growth related to length showed deficits but to a lesser degree than weight-based measures. Data beyond age 12 months were sparse. Conclusions: Regardless of cleft type, young children with a cleft have worse attained growth than peers based on referent growth charts. Children with a cleft palate, with or without a cleft lip, had lower estimates than children with cleft lip.