Carrie L Heike

Carrie L Heike
Seattle Children’s Research Institute

MD, MS

About

128
Publications
65,440
Reads
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3,332
Citations
Additional affiliations
July 2003 - November 2021
University of Washington
Position
  • Professor
July 2003 - August 2021
Seattle Children's Hospital
Position
  • Professor

Publications

Publications (128)
Article
Purpose: Craniofacial microsomia (CFM) is a congenital condition that can be associated with feeding challenges in infants. As part of the larger ‘Craniofacial microsomia: Accelerating Research and Education (CARE)’ program, this study described caregivers’ early feeding experiences. Design and Materials: US-based caregivers of children with CFM (...
Article
Craniofacial microsomia (CFM) and microtia psychosocial research in the U.S. is primarily with English-speaking participants. Given that 19% of the U.S. is Latinx and there is a higher prevalence of CFM in Latinx populations, this study aims to describe psychosocial experiences related to CFM among Spanish-speaking Latinx caregivers to better infor...
Article
Objective: Children with craniofacial microsomia (CFM) have complex healthcare needs, resulting in evaluations and interventions from infancy onward. Yet, little is understood about families’ treatment experiences or the impact of CFM on caregivers’ well-being. To address this gap, the NIH-funded ‘Craniofacial microsomia: Accelerating Research and...
Article
Full-text available
Purpose This article reviews the literature focused on the psychological effects of craniofacial care for patients and their families. It provides an overview of pediatric medical traumatic stress (PMTS) associated with craniofacial conditions and related care, along with a review of its risk and protective factors. Findings from studies of PMTS in...
Article
Objectives (1) Assess caregiver-reported development in infants born with cleft lip ± alveolus (CL ± A) and cleft lip and palate (CLP); (2) determine factors associated with increased developmental risk; and (3) determine consistency of developmental risk before and after surgery for cleft lip. Design Prospective, longitudinal assessment of develo...
Article
Full-text available
Introduction Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to...
Article
Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals. Two sets of pheno...
Article
Full-text available
Objective: Craniofacial microsomia (CFM) is a broad clinical term used to describe a congenital condition most commonly involving the underdevelopment of the external ear, mandible, soft tissues, and facial nerve. Despite medical advances, understanding of the psychological health and healthcare experiences of individuals with CFM and their caregi...
Article
Objective: Our goal was to compare data collected from 3- and 7-day Infant with Clefts Observation Outcomes (iCOO) diaries. Design: Secondary data analysis of an observational longitudinal cohort study. Caregivers completed the daily iCOO for 7 days before cleft lip surgery (T0) and for 7 days after cleft lip repair (T1). We compared 3- and 7-da...
Article
Full-text available
Introduction Asymmetric mandibular hypoplasia, microtia, tongue and laryngeal anomalies, and soft palate and facial nerve dysfunction are clinical features observed in children with craniofacial microsomia (CFM). Despite involvement of all these structures in hearing and speech, there is limited evidence reporting speech outcomes in this population...
Article
Objectives: Few evidence-based psychosocial programs exist within craniofacial care. This study (a) assessed feasibility and acceptability of the Promoting Resilience in Stress Management-Parent (PRISM-P) intervention among caregivers of children with craniofacial conditions and (b) described barriers and facilitators of caregiver resilience to in...
Article
Full-text available
Objective: We sought to confirm, refute, or modify a 4-step process for implementing shared decision-making (SDM) in pediatrics that involves determining 1) if the decision includes >1 medically reasonable option; 2) if one option has a favorable medical benefit-burden ratio compared to other options; and 3) parents' preferences regarding the opti...
Article
Objective(s) To estimate nutritional status in a large cohort of infants with orofacial clefts in the US, overall and by cleft type from birth to 6 months of age. Study design We conducted a cross-sectional study in infants with orofacial clefts by examining growth by month between birth and 6 months of age. Infants with at least one weight measur...
Article
Full-text available
Purpose: Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown. Methods: We performed genome sequencing and linkag...
Article
Objective To evaluate the sensitivity to change of daily ratings of the comfort (COMF) and behavioral/emotional health (BEH) domains of the Infants with Clefts Observation Outcomes Instrument (iCOO) at 3 time points, and to assess the association of post-surgical interventions on iCOO ratings. Design The COMF and BEH domains were completed by care...
Article
Caregiver and observer-reported measures are frequently used as outcomes for research on infants and young children who are unable to report on their own health. Our team developed the Infant with Clefts Observation Outcomes Instrument (iCOO) for infants with cleft lip with or without cleft palate. This exploratory study compared test-retest and in...
Article
Aim: This article provides a review of a decade of clinical research studies on clinical features, medical and surgical interventions for individuals with craniofacial microsomia (CFM). We also provide recommendations for future clinical research. Method: A systematic search of literature was conducted in Embase and Pubmed/Medline Ovid. All publica...
Article
Objective We evaluated the measurement properties for item and domain scores of the Infant with Clefts Observation Outcomes Instrument (iCOO). Design Cross-sectional (before lip surgery) and longitudinal study (preoperative baseline and 2 days and 2 months after lip surgery). Setting Three academic craniofacial centers and national online adverti...
Article
Full-text available
Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10⁻¹⁰), a component of the...
Article
Full-text available
Children with craniofacial microsomia (CFM) are at increased risk for educational and social concerns. This study describes intervention services and frequency of teasing in a multinational population of children with CFM. Caregivers of children with CFM ages 3 to 18 years in the US and South America were administered a questionnaire. Additional in...
Article
Background: Postoperative computed tomography scans allow for evaluation of the structural results of cranial vault reconstruction and potential surgical concerns. The authors evaluated the clinical utility of routine postoperative scans to identify relevant surgical findings in children treated for craniosynostosis. Methods: The authors conduct...
Article
Full-text available
The contribution of low-frequency variants to the genetic architecture of normal-range facial traits is unknown. We studied the influence of low-frequency coding variants (MAF < 1%) in 8091 genes on multi-dimensional facial shape phenotypes in a European cohort of 2329 healthy individuals. Using three-dimensional images, we partitioned the full fac...
Article
Objective To examine neurodevelopment in preschool-aged children with craniofacial microsomia (CFM) relative to unaffected peers. Design Multisite, longitudinal cohort study. Setting Tertiary care centers in the United States. Participants We included 92 children with CFM (“cases”) through craniofacial centers and clinics. Seventy-six children w...
Article
The cause of occipital asymmtery can be either extrinsic or intrinsic. Intrinsic causes include lambdoid craniosynsotosis. This condition is generally treated with cranial vault expansion surgery. Extrinsic causes include deformational plagiocephaly, which became commonplace after the "Back to Sleep Campaign" instituted in the 1980s by the American...
Article
Full-text available
Background: Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral oral clefts, epibulbar dermoids, cardiac, vertebral, and renal abnormalities. The etiology of CFM is l...
Article
Objective The study aim was to assess behavioral adjustment in preschool children with and without craniofacial microsomia (CFM). Design Multisite cohort study of preschoolers with CFM (“cases”) or without CFM (“controls”). Participants Mothers (89%), fathers (9%), and other caregivers (2%) of 161 preschoolers. Outcome Measure Child Behavior Che...
Article
Objective An increasing number of patients use social media for health-related information and social support. This study’s objective was to describe the content posted on Facebook groups for individuals with microtia and/or craniofacial microsomia (CFM) and their families in order for providers to gain insight into patient and family needs and exp...
Preprint
Full-text available
The contribution of low-frequency variants to the genomic architecture of normal-range facial traits is unknown. Therefore, we studied the influence of 31347 low-frequency coding variants (MAF < 1%) in 8091 genes on multi-dimensional facial shape phenotypes in a European cohort of 2329 healthy individuals. Using three-dimensional facial images, we...
Article
More than 50 individuals with activating variants in the receptor tyrosine kinase PDGFRB have been reported, separated based on clinical features into solitary myofibromas, infantile myofibromatosis, Penttinen syndrome with premature aging and osteopenia, Kosaki overgrowth syndrome, and fusiform aneurysms. Despite their descriptions as distinct cli...
Article
Objective To develop an outcomes instrument that assesses observations that can be reliably reported by caregivers and can be used to assess health of infants with a cleft lip or cleft lip and cleft palate (CL±P) and impacts of treatments. Design Cross-sectional, mixed methods study. Setting Caregivers and health-care providers were recruited fro...
Article
Full-text available
Purpose Youth with craniofacial microsomia (CFM) have anomalies and comorbidities that increase their risk for speech, language, and communication deficits. We examined these outcomes in youth with and without CFM and explored differences as a function of CFM phenotype and hearing status. Method Participants included youth ages 11–17 years with CF...
Article
Clinicians use different diagnostic terms for patients with underdevelopment of facial features arising from the embryonic first and second pharyngeal arches, including first and second branchial arch syndrome, otomandibular dysostosis, oculoauriculovertebral syndrome, and hemifacial microsomia. Craniofacial microsomia has become the preferred term...
Article
Objectives Craniofacial microsomia (CFM) is a congenital condition that typically involves hypoplasia of the ear and jaw. It is often associated with adverse effects such as hearing loss and sleep‐disordered breathing. There is little research on its etiology. Methods We conducted a case–control study from maternal interview data collected from mo...
Article
Shared decision-making (SDM) has emerged as the preferred decision-making model in the clinician-patient relationship. Through collaboration, SDM helps to facilitate evidence-based medical decisions that are closely aligned with patient or surrogate preferences, values, and goals. How to implement SDM in clinical pediatric practice, however, remain...
Article
Full-text available
Background:. Craniofacial microsomia (CFM) is a congenital condition associated with malformations of the bone and soft tissue of the face and the facial nerves, all of which have the potential to impair facial expressiveness. We investigated whether CFM-related variation in expressiveness is evident as early as infancy. Methods:. Participants were...
Article
Full-text available
Objective: The Craniofacial microsomia: Longitudinal Outcomes in Children pre-Kindergarten (CLOCK) study is a longitudinal cohort study of neurobehavioral outcomes in infants and toddlers with craniofacial microsomia (CFM). In this article, we review the data collection and methods used to characterize this complex condition and describe the demog...
Article
Full-text available
Objective: To explore, using semistructured qualitative interviews, parent observations of their infant's health as they relate to having a cleft lip or cleft lip and cleft palate (CL±P) and/or associated treatments. Design: Cross-sectional, qualitative study across 3 sites. Setting: Parents were recruited from 3 academic craniofacial centers....
Article
The Facial Asymmetry Collaborative for Interdisciplinary Assessment and Learning (FACIAL) network applies key principles of established team science while using equity-based approaches that advance career development and accelerating collaborative research in craniofacial microsomia. Team science is an effort to leverage a challenge in science by u...
Article
This study describes stressors, resources, and recommendations related to craniofacial microsomia (CFM) care from the perspective of caregivers of children with CFM and adults with CFM in order to inform improved quality of healthcare delivery. A mixed method design was used with fixed-response and open-ended questions from an online survey in Engl...
Article
Full-text available
The shape of the cranial vault, a region comprising interlocking flat bones surrounding the cerebral cortex, varies considerably in humans. Strongly influenced by brain size and shape, cranial vault morphology has both clinical and evolutionary relevance. However, little is known about the genetic basis of normal vault shape in humans. We performed...
Data
All genome-wide significant and suggestive SNPs in the 3DFN cohort, OFC cohort and meta-analysis for MCL. (XLSX)
Data
Association results of FGFR1 SNPs identified from two published cranial vault candidate gene studies. (XLSX)
Data
Association results of all available FGFR1 SNPs (+/- 20kb). (XLSX)
Data
Manhattan plots for all genome-wide significant and suggestive SNPs in the 3DFN cohort, OFC cohort and meta-analysis for MCW, MCL and CI. The horizontal line represents the conventional threshold for genome-wide statistical significance: p ≤ 5x10-8. (PDF)
Data
LocusZoom plots for all genome-wide significant and suggestive SNPs in the 3DFN cohort for MCW, MCL and CI. LocusZoom plots show the association (left y-axis; log10-transformed p-values) with facial traits. Genotyped SNPs are depicted by asterisks and imputed SNPs are depicted by circles. Shading of the points represent the linkage disequilibrium (...
Data
Genome-wide linkage scan plots for cranial vault traits in mice. The three traits are indicated by color: MCW = Orange, MCL = Green, CI = Black. The horizontal line represents the permutation-based empirical threshold for genome-wide statistical significance. (PDF)
Data
P-values of all significant and suggestive SNPs in all three traits. (XLSX)
Data
Association results of SNPs identified from previously published GWASs of intracranial volume and sagittal craniosynostosis. (XLSX)
Data
LocusZoom plots for all genome-wide significant and suggestive SNPs in the OFC cohort for MCW, MCL and CI. LocusZoom plots show the association (left y-axis; log10-transformed p-values) with facial traits. Genotyped SNPs are depicted by asterisks and imputed SNPs are depicted by circles. Shading of the points represent the linkage disequilibrium (r...
Data
All genome-wide significant and suggestive SNPs in the 3DFN cohort, OFC cohort and meta-analysis for MCW. (XLSX)
Data
All genome-wide significant and suggestive SNPs in the 3DFN cohort, OFC cohort and meta-analysis for CI. (XLSX)
Data
Overview of the quality control, methods and population structure for genotyped and imputed SNPs in each of the main cohorts. (DOCX)
Data
LocusZoom plots for all genome-wide significant and suggestive SNPs in the meta-analysis for MCW, MCL and CI. LocusZoom plots show the association (left y-axis; log10-transformed p-values) with facial traits. Genotyped SNPs are depicted by asterisks and imputed SNPs are depicted by circles. Shading of the points represent the linkage disequilibrium...
Data
Ancestry PC plots and scree plots for OFC and 3DFN cohort. (PDF)
Data
Overview of landmarks used to measure cranial vault dimensions from mouse skull microCT scans. (TIFF)
Data
QQ Plots and corresponding genomic inflation factors for all association studies. (PDF)
Article
Objectives: To determine whether infant cases with craniofacial microsomia (CFM) evidence poorer neurodevelopmental status than demographically similar infants without craniofacial diagnoses ("controls"), and to examine cases' neurodevelopmental outcomes by facial phenotype and hearing status. Study design: Multicenter, observational study of 10...
Article
Full-text available
Objective Craniofacial microsomia (CFM) is primarily characterized by underdevelopment of the ear and mandible, with several additional possible congenital anomalies. Despite the potential burden of care and impact of CFM on multiple domains of functioning, few studies have investigated patient and caregiver perspectives. The objective of this stud...
Article
Objective: To compare facial expressiveness (FE) of infants with and without craniofacial macrosomia (cases and controls, respectively) and to compare phenotypic variation among cases in relation to FE. Design: Positive and negative affect was elicited in response to standardized emotion inductions, video recorded, and manually coded from video...
Article
Objective: The objective was to assess differences in psychosocial adjustment between adolescents with and without craniofacial microsomia (CFM). Design: This is a case-control follow-up study in adolescents with and without CFM. Setting: Participants were originally recruited as infants from 26 cities across the United States and Canada. Par...
Conference Paper
Action unit detection in infants relative to adults presents unique challenges. Jaw contour is less distinct, facial texture is reduced, and rapid and unusual facial movements are common. To detect facial action units in spontaneous behavior of infants, we propose a multi-label Convolutional Neural Network (CNN). Eighty-six infants were recorded du...
Article
Full-text available
Background: The authors compared the IQ and academic achievement of adolescents with craniofacial microsomia (cases) and unaffected children (controls). Among cases, the authors analyzed cognitive functioning by facial phenotype. Methods: The authors administered standardized tests of intelligence, reading, spelling, writing, and mathematics to...
Article
Full-text available
Craniofacial microsomia is a common congenital condition for which children receive longitudinal, multidisciplinary team care. However, little is known about the etiology of craniofacial microsomia and few outcome studies have been published. In order to facilitate large, multicenter studies in craniofacial microsomia, we assessed the reliability o...
Article
Background: Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and des...
Article
Orofacial clefts are among the most common congenital anomalies, with an average worldwide prevalence of approximately 1 in 700 live births.¹ Individuals with orofacial clefts require longitudinal, multidisciplinary coordinated care from birth through adulthood to optimize hearing, speech, oral health, and occlusion.²- 5 Despite the fact that orofa...
Article
Full-text available
Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D surface images of 3118 healthy...
Article
Objective: To evaluate the association between craniofacial phenotype and hearing loss in children with craniofacial microsomia. Design: Retrospective cohort study. Setting: Tertiary care children's hospital. Patients: Individuals with craniofacial microsomia. Main outcome measures: Ear-specific audiograms and standardized phenotypic class...
Article
Full-text available
Purpose: Because a tracheal cartilaginous sleeve (TCS) confers a significant mortality risk that can be mitigated with appropriate intervention, we sought to describe the prevalence and associated genotypes in a large cohort of children with syndromic craniosynostosis. Methods: Chart review of patients with syndromic craniosynostosis across two...
Article
Full-text available
Background: Although craniofacial sex differences have been extensively studied in humans, relatively little is known about when various dimorphic features manifest during postnatal life. Using cross-sectional data derived from the 3D Facial Norms data repository, we tested for sexual dimorphism of craniofacial soft-tissue morphology at different...
Article
Full-text available
Objective: Quantitative measures of facial form to evaluate treatment outcomes for cleft lip (CL) are currently limited. Computer-based analysis of three-dimensional (3D) images provides an opportunity for efficient and objective analysis. The purpose of this study was to define a computer-based standard of identifying the 3D mid-facial reference...
Article
Full-text available
Previous work in automatic affect analysis (AAA) has emphasized static expressions to the neglect of the dynamics of facial movement and considered head movement only a nuisance variable to control. We investigated whether the dynamics of head and facial movements apart from specific facial expressions communicate affect in infants, an under-studie...
Article
Full-text available
With the current widespread use of three-dimensional (3D) facial surface imaging in clinical and research environments, there is a growing demand for high-quality craniofacial norms based on 3D imaging technology. The principal goal of the 3D Facial Norms (3DFN) project was to create an interactive, Web-based repository of 3D facial images and meas...
Article
Full-text available
The clinical presentation of microtia varies widely from minimal morphological abnormalities to complete absence of the ear. In this study we sought to identify and characterize sub-groups of microtia using a statistical and a clinical approach. Photographs of 86 ears were classified in relation to all the external ear components. We used cluster a...
Conference Paper
Purpose: Craniosynostosis is a congenital malformation caused by premature fusion of cranial sutures. Occurrence of intra-operative venous air emboli during the cranial vault expansion (CVE) surgery used to treat this condition is a common and significant surgical risk and can lead to stroke or death. Infants with an atrial septal defect (ASD) are...
Article
Full-text available
Orofacial clefting is a common birth defect with wide phenotypic variability. Many systems have been developed to classify cleft patterns to facilitate diagnosis, management, surgical treatment, and research. In this review, we examine the rationale for different existing classification schemes and determine their inter-relationships, as well as st...
Article
Surgical and orthodontic treatment of unilateral cleft lip +/- palate can produce dramatic changes in nasolabial form; however, the lack of ideal methods with which to objectively document three-dimensional form limits the ability to assess treatment outcomes. The purpose of this study was to determine the reliability of three-dimensional stereopho...