Carrie L Heike

Publications of Carrie L Heike

• Photographic protocol for image acquisition in craniofacial microsomia.

  Authors: Carrie L Heike, Laura P Stueckle, Erik T Stuhaug, Luiz A Pimenta, Amelia F Drake, Daniela Vivaldi, Kathleen Cy Sie, Craig B Birgfeld

  Head & face medicine. 12/2011; 7:25.

  ABSTRACT: Craniofacial microsomia (CFM) is a congenital condition associated with orbital, mandibular, ear, nerve, and soft tissue anomalies. We present a standardized, two-dimensional, digitalABSTRACT: Craniofacial microsomia (CFM) is a congenital condition associated with orbital, mandibular, ear, nerve, and soft tissue anomalies. We present a standardized, two-dimensional, digital photographic protocol designed to capture the common craniofacial features associated with CFM.

• Microtia: Epidemiology and genetics.

  Authors: Daniela V Luquetti, Carrie L Heike, Anne V Hing, Michael L Cunningham, Timothy C Cox

  American journal of medical genetics. Part A. 11/2011;

  Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of aMicrotia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude. © 2011 Wiley Periodicals, Inc.

• Longitudinal, Three-Dimensional Analysis of Head Shape in Children with and without Deformational Plagiocephaly or Brachycephaly.

  Authors: Brent R Collett, Carrie L Heike, Indriyati Atmosukarto, Jacqueline R Starr, Michael L Cunningham, Matthew L Speltz

  The Journal of pediatrics. 11/2011;

  OBJECTIVES: To assess 3-dimensional (3D) changes in head shape in infancy and at age 18 months in children with and without plagiocephaly or brachycephaly. STUDY DESIGN: Using a longitudinal design,OBJECTIVES: To assess 3-dimensional (3D) changes in head shape in infancy and at age 18 months in children with and without plagiocephaly or brachycephaly. STUDY DESIGN: Using a longitudinal design, we evaluated head shape using 3D surface imaging. We compared the head shapes of children with (1) diagnosed deformational plagiocephaly or brachycephaly (cases; n=233); (2) unaffected controls, with no evidence of dysmorphology (n=167); and (3) affected controls, who despite having no previous diagnosis demonstrated skull dysmorphology on 3D surface imaging (n=70). RESULTS: Cases had greater skull flattening and asymmetry than unaffected controls at both time points, as did controls with skull dysmorphology. In all groups, head shapes became less flat and more symmetric over time. Among cases, symmetry improved slightly more for those who received orthotic treatment. CONCLUSIONS: Although head shape improves over time for children with deformational plagiocephaly or brachycephaly, skull dysmorphology persists relative to unaffected controls. Further research is needed to clarify the extent to which these differences are detectable to clinicians and lay observers.

• Development in toddlers with and without deformational plagiocephaly.

  Authors: Brent R Collett, Jacqueline R Starr, Deborah Kartin, Carrie L Heike, Jessica Berg, Michael L Cunningham, Matthew L Speltz

  Archives of pediatrics & adolescent medicine. 07/2011; 165(7):653-8.

  To determine whether the heightened risk of developmental delays seen in infancy in patients with deformational plagiocephaly (DP) continues into the toddler years. Longitudinal study comparing theTo determine whether the heightened risk of developmental delays seen in infancy in patients with deformational plagiocephaly (DP) continues into the toddler years. Longitudinal study comparing the development of children with and without DP, with assessments in infancy (mean age, 7 months) and at age 18 months. Infants with DP were recruited from a large craniofacial center, and unaffected infants were recruited from a research registry. The study included 227 children with DP and 232 children without previously diagnosed DP. Diagnosis of DP by a craniofacial specialist. Bayley Scales of Infant and Toddler Development, Third Edition, scores. Toddlers with DP scored lower than did unaffected children on all the scales of the Bayley Scales of Infant and Toddler Development, Third Edition. Motor score differences were smaller and cognitive and language score differences were greater than those observed in infancy. Toddlers with DP continue to exhibit evidence of developmental delays relative to toddlers without DP. These findings do not necessarily imply a causal relationship between DP and development because children with delays may be more likely to develop DP. Nonetheless, it seems that increased developmental surveillance is warranted in this population.

• A phenotypic assessment tool for craniofacial microsomia.

  Authors: Craig B Birgfeld, Daniela V Luquetti, Alexander J Gougoutas, Scott P Bartlett, David W Low, Kathy C Y Sie, Kelly N Evans, Carrie L Heike

  Plastic and reconstructive surgery. 01/2011; 127(1):313-20.

  Craniofacial microsomia is one of the most common conditions treated by craniofacial teams. However, research regarding the cause of this condition or the surgical outcomes of treatment is scant.Craniofacial microsomia is one of the most common conditions treated by craniofacial teams. However, research regarding the cause of this condition or the surgical outcomes of treatment is scant. This is attributable to the lack of diagnostic criteria and the wide phenotypic spectrum. Standardized description of the craniofacial malformations associated with craniofacial microsomia is a necessary first step for multicenter, interdisciplinary research into this complex condition. The authors used the previously published pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus classification scheme to assign a phenotypic severity score to patients with craniofacial microsomia treated at the Craniofacial Center at Seattle Children's Hospital. The authors modified the tool based on feedback from multidisciplinary focus groups. The authors also developed a standardized photographic protocol to facilitate assessment of patients using two-dimensional images. Feedback from focus groups was synthesized to create a phenotypic assessment tool for craniofacial microsomia based on the pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus classification system. This tool allows for more comprehensive description of the phenotype of craniofacial microsomia and is found to be effective for clinical use within a multidisciplinary craniofacial team. In addition, the photographic protocol for patients with craniofacial microsomia allows for classification from a two-dimensional photographic database, thereby facilitating research using archived photographs. The phenotypic assessment tool for craniofacial microsomia protocol provides a simple and standardized method for practitioners and researchers to classify patients with craniofacial microsomia. We anticipate that this tool can be used in multicenter investigational studies to evaluate the cause of this condition, its natural history, and comparative effectiveness research.

• Increased risk of orofacial clefts associated with maternal obesity: case-control study and Monte Carlo-based bias analysis.

  Authors: Marni Stott-Miller, Carrie L Heike, Mario Kratz, Jacqueline R Starr

  Paediatric and perinatal epidemiology. 09/2010; 24(5):502-12.

  Our objective was to evaluate whether infants born to obese or diabetic women are at higher risk of non-syndromic orofacial clefting. We conducted a population-based case-control study usingOur objective was to evaluate whether infants born to obese or diabetic women are at higher risk of non-syndromic orofacial clefting. We conducted a population-based case-control study using Washington State birth certificate and hospitalisation data for the years 1987-2005. Cases were infants born with orofacial clefts (n = 2153) and controls infants without orofacial clefts (n = 18 070). The primary exposures were maternal obesity (body mass index > or =30) and diabetes (either pre-existing or gestational). We estimated adjusted odds ratios (ORs) to compare, for mothers of cases and controls, the proportions of obese vs. normal-weight women and diabetic vs. non-diabetic women. We additionally performed Monte Carlo-based simulation analysis to explore possible influences of biases. Obese women had a small increased risk of isolated orofacial clefts in their offspring compared with normal-body mass index women [adjusted OR 1.26; 95% confidence interval 1.03, 1.55]. Results were similar regardless of type of cleft. Bias analyses suggest that estimates may represent underlying ORs of stronger magnitude. Results for diabetic women were highly imprecise and inconsistent. We and others have observed weak associations of similar magnitude between maternal obesity and risk of non-syndromic orofacial clefts. These results could be due to bias or residual confounding. However, it is also possible that these results represent a stronger underlying association. More precise exposure measurement could help distinguish between these two possibilities.

• 3D digital stereophotogrammetry: a practical guide to facial image acquisition.

  Authors: Carrie L Heike, Kristen Upson, Erik Stuhaug, Seth M Weinberg

  Head & face medicine. 01/2010; 6:18.

  The use of 3D surface imaging technology is becoming increasingly common in craniofacial clinics and research centers. Due to fast capture speeds and ease of use, 3D digital stereophotogrammetry isThe use of 3D surface imaging technology is becoming increasingly common in craniofacial clinics and research centers. Due to fast capture speeds and ease of use, 3D digital stereophotogrammetry is quickly becoming the preferred facial surface imaging modality. These systems can serve as an unparalleled tool for craniofacial surgeons, proving an objective digital archive of the patient's face without exposure to radiation. Acquiring consistent high-quality 3D facial captures requires planning and knowledge of the limitations of these devices. Currently, there are few resources available to help new users of this technology with the challenges they will inevitably confront. To address this deficit, this report will highlight a number of common issues that can interfere with the 3D capture process and offer practical solutions to optimize image quality.

• Picture perfect? Reliability of craniofacial anthropometry using three-dimensional digital stereophotogrammetry.

  Authors: Carrie L Heike, Michael L Cunningham, Anne V Hing, Erik Stuhaug, Jacqueline R Starr

  Plastic and reconstructive surgery. 10/2009; 124(4):1261-72.

  BACKGROUND: Quantification of facial characteristics is important for research in dysmorphology, otolaryngology, oral and maxillofacial, and plastic surgical disciplines, among others.BACKGROUND: Quantification of facial characteristics is important for research in dysmorphology, otolaryngology, oral and maxillofacial, and plastic surgical disciplines, among others. Three-dimensional surface imaging systems offer a quick and practical method for quantifying craniofacial variation and appear to be highly reliable. However, some sources of measurement error have not yet been thoroughly evaluated. METHODS: The authors assessed the reliability of using stereophotogrammetry for measuring craniofacial characteristics in 40 individuals, including 20 without craniofacial conditions and 20 with 22q11.2 deletion syndrome. The authors recruited staff and relatives of staff, and individuals with a laboratory-confirmed 22q11.2 deletion. Thirty anthropometric measurements were obtained on participants and on three-dimensional images. RESULTS: Intrarater and interrater reliability for most interlandmark distances on three-dimensional images had intraclass correlation coefficients greater than 95 percent, mean absolute differences of less than 1 mm, relative error measurement less than 5, and technical error of measurement less than 1 mm. The Pearson correlation coefficients of greater than 0.9 for most distances suggest high intermethod reliability between direct and image-based measurements. Three-dimensional image-based measurements were systematically larger for the head length and width, forehead, and skull base widths, and upper and lower facial widths. CONCLUSIONS: This study provides further evidence of the high reliability of three-dimensional imaging systems for several craniofacial measurements, including landmarks and interlandmark distances not included in previous studies. The authors also discuss possible errors introduced with palpable landmarks and when working with less compliant participants, such as children. The authors offer guidelines for establishing protocols that can be tailored to each population and research question to maximize the accuracy of image-based measurements.

• Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.

  Authors: Carrie L Heike, Jacqueline R Starr, Mark J Rieder, Michael L Cunningham, Karen L Edwards, Ian B Stanway, Dana C Crawford

  Birth defects research. Part A, Clinical and molecular teratology. 08/2009;

  BACKGROUND:: Children with 22q11.2 deletion syndrome (22q11.2DS) have a wide range of clinical features. TBX1 has been proposed as a candidate gene for some of the features in this condition.BACKGROUND:: Children with 22q11.2 deletion syndrome (22q11.2DS) have a wide range of clinical features. TBX1 has been proposed as a candidate gene for some of the features in this condition. Polymorphisms in the nondeleted TBX1, which may affect the function of the sole TBX1 gene in individuals with the 22q11.2DS, may be a key to understanding the phenotypic variability among individuals with a shared deletion. Comprehensive single nucleotide polymorphism (SNP) discovery by resequencing candidate genes can identify genetic variants that influence a given phenotype. The purpose of this study was to further characterize the sequence variability in TBX1 by identifying all common SNPs in this gene. METHODS:: We resequenced TBX1 in 29 children with a documented 22q11.2 deletion and 95 nondeleted, healthy individuals. We estimated allele frequencies, performed tagSNP selection, and inferred haplotypes. We also compared SNP frequencies between 22q11.2DS and control samples. RESULTS:: We identified 355 biallelic markers among the 190 chromosomes resequenced in the control panel. The vast majority of the markers identified were SNPs (n = 331), and the remainder indels (n = 24). We did not identify SNPs or indels in the cis- regulatory element (FOX-binding site) upstream of TBX1. In children with 22q11.2DS we detected 187 biallelic markers, six of which were indels. Four of the seven coding SNPs identified in the controls were identified in children with 22q11.2DS. CONCLUSIONS:: This comprehensive SNP discovery data can be used to select SNPs to genotype for future association studies assessing the role of TBX1 and phenotypic variability in individuals with 22q11.2DS. Birth Defects Research (Part A) 2009. (c) 2009 Wiley-Liss, Inc.

• Evaluation of the infant with an abnormal skull shape.

  Authors: Michael L Cunningham, Carrie L Heike

  Current opinion in pediatrics. 01/2008; 19(6):645-51.

  PURPOSE OF REVIEW: Atypical skull shapes occur in as many as 20% of infants. The purpose of this review is to discuss the clinical approach to the evaluation of a child with an abnormal head shape.PURPOSE OF REVIEW: Atypical skull shapes occur in as many as 20% of infants. The purpose of this review is to discuss the clinical approach to the evaluation of a child with an abnormal head shape. Readers will learn how to identify the head shapes caused by environmental deformation and craniosynostosis. We also review recent findings with regard to the genetics of single-suture craniosynostosis. RECENT FINDINGS: Healthcare providers can use key aspects of the examination of a child with a head shape abnormality to differentiate positional deformity from craniosynostosis. Overlap between the genetic causes of isolated single-suture craniosynostosis and syndromic forms is discussed. SUMMARY: Pediatricians can identify the causes of the majority of head shape abnormalities by combining their understanding of normal calvarial growth with a careful physical examination. Molecular genetics is playing an increasing role in the evaluation of children with single-suture fusion.

• Syndromic craniosynostosis: from history to hydrogen bonds.

  Authors: Machael L Cunningham, Marianne L Seto, Chootima Ratisoontorn, Carrie L Heike, Anne V Hing

  Orthodontics & craniofacial research. 06/2007; 10(2):67-81.

  The syndromic craniosynostoses, usually involving multiple sutures, are hereditary forms of craniosynostosis associated with extracranial phenotypes such as limb, cardiac, CNS and trachealThe syndromic craniosynostoses, usually involving multiple sutures, are hereditary forms of craniosynostosis associated with extracranial phenotypes such as limb, cardiac, CNS and tracheal malformations. The genetic etiology of syndromic craniosynostosis in humans is only partially understood. Syndromic synostosis has been found to be associated with mutations of the fibroblast growth factor receptor family (FGFR1, -R2, -R3), TWIST1, MSX2, and EFNB1. Apert, Pfeiffer, Crouzon, and Jackson-Weiss syndromes are due to gain-of-function mutations of FGFR2 in either the Ig II-III linker region (Apert) or Ig III domain. Loss of function mutations of TWIST1 and gain-of-function mutations of MSX2 lead to Saethre-Chotzen and Boston-type syndromes, respectively. The mutations in Pfeiffer (FGFR1), Muenke (FGFR3), and Apert syndrome (FGFR2) are caused by the same amino acid substitution in a highly conserved region of the Ig II-III linker region of these proteins, which suggests that these receptor tyrosine kinases have an overlapping function in suture biology. In this review we will discuss the historical descriptions, current phenotypes and molecular causes of the more common forms of syndromic craniosynostosis.

• Sleep disturbances in 22q11.2 deletion syndrome: a case with obstructive and central sleep apnea.

  Authors: Carrie L Heike, Anthony M Avellino, Sohail K Mirza, Yemiserach Kifle, Jonathan Perkins, Raymond Sze, Mark Egbert, Anne V Hing

  The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 06/2007; 44(3):340-6.

  The 22q11.2 deletion syndrome is characterized by wide phenotypic variability, frequently involving characteristic craniofacial features, cardiac malformations, and learning difficulties. SkeletalThe 22q11.2 deletion syndrome is characterized by wide phenotypic variability, frequently involving characteristic craniofacial features, cardiac malformations, and learning difficulties. Skeletal anomalies are also common and include an obtuse angle of the cranial base, retrognathia, and cervical spine abnormalities. Despite these anomalies, sleep-disturbed breathing is not reported frequently in patients with 22q11.2 deletion syndrome. We describe a patient with an obstructive sleep disturbance that was successfully treated with a tonsillectomy followed by mandibular distraction osteogenesis. She also had central sleep apnea, initially attributed to spinal cord impingement from cervical instability. Posterior cervical fusion was associated with a decrease in the number of central apneic events.

• Geographic and occupational risk factors for ventricular septal defects: Washington State, 1987-2003.

  Authors: Maneesh Batra, Carrie L Heike, Richard C Phillips, Noel S Weiss

  Archives of pediatrics & adolescent medicine. 02/2007; 161(1):89-95.

  OBJECTIVE: Ventricular septal defect (VSD) is currently the most common congenital cardiac malformation in the United States, but little is known about its etiology. The objective of this study wasOBJECTIVE: Ventricular septal defect (VSD) is currently the most common congenital cardiac malformation in the United States, but little is known about its etiology. The objective of this study was to address the hypothesis that parents' residence in eastern Washington, a region heavily dominated by the agricultural industry, and employment in agriculturally related occupations can influence the presence of a VSD in their offspring. DESIGN: Population-based case-control study. SETTING: Washington State from January 1, 1987, through December 31, 2003. PATIENTS: Children aged 0 to 2 years diagnosed as having a VSD (n = 3489), and other infants selected at random as control subjects (n = 13 290). MAIN EXPOSURES: Parental occupation and county of maternal residence were obtained from the birth certificate. The latter was categorized according to region (east vs west), rural-urban classification, and the proportion of farm and crop land. MAIN OUTCOME MEASURES: Diagnosis of VSD within the first 2 years of life. RESULTS: The risk of VSD was greater for infants whose mothers resided in eastern Washington (odds ratio, 1.30; 95% confidence interval, 1.03-1.65). The risk of VSD with other cardiac malformations (n = 1205) exhibited a stronger geographic association than did isolated VSD (n = 2284). Analyses restricted to eastern Washington did not reveal a clear relationship between the risk of VSD and an increasing proportion of agricultural land in the mother's county of residence. Parental occupation in agriculture was not associated with the presence of VSD. CONCLUSION: Although these findings suggest regional variation in Washington State in the occurrence of VSD, the basis for this variation remains to be determined.

• Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?

  Authors: Carrie L Heike, Michael L Cunningham, Robert D Steiner, Deborah Wenkert, Robin L Hornung, Joseph S Gruss, Francis H Gannon, William H McAlister, Steven Mumm, Michael P Whyte

  American journal of medical genetics. Part A. 01/2006; 139A(2):67-77.

  Epidermal nevus syndrome (ENS) is a rare, sporadic, congenital disorder of unknown etiology featuring a complex and highly variable phenotype that can include focal or generalized skeletal disease.Epidermal nevus syndrome (ENS) is a rare, sporadic, congenital disorder of unknown etiology featuring a complex and highly variable phenotype that can include focal or generalized skeletal disease. We describe a young man with ENS manifesting right-sided linear skin lesions, generalized weakness, diffuse osteopenia associated with hypophosphatemic rickets, and distinctive focal bone lesions ipsilateral to the skin findings. Review of the literature concerning ENS-associated skeletal disease suggested such focal bone defects are fibrous dysplasia, but our patient did not have the typical radiographic or histopathologic findings of fibrous dysplasia. Nevertheless, his circulating fibroblast growth factor 23 (FGF-23) level was elevated, likely functioning as a "phosphatonin," yet no activating mutations in GNAS previously reported in fibrous dysplasia or McCune-Albright syndrome were detected in his leukocytes or affected skin. We postulate that the focal skeletal disease, although different than fibrous dysplasia, may be a source of FGF-23 in ENS.

• Craniofacial Microsomia Overview

  Authors: Carrie L Heike, Anne V Hing

• Craniofacial summer cAMP: an educational experience for campers, cAMP staff, and the craniofacial team.

  Authors: Carrie L Heike, Dawn Leavitt, Cassandra Aspinall, Monica Andrews, Hillary Carey, Marsha Ose

  Plastic surgical nursing : official journal of the American Society of Plastic and Reconstructive Surgical Nurses. 30(1):6-11; quiz 12-3.

  Children with congenital or acquired craniofacial conditions often have complex medical and surgical healthcare needs. To provide holistic care to this unique pediatric population, we must seekChildren with congenital or acquired craniofacial conditions often have complex medical and surgical healthcare needs. To provide holistic care to this unique pediatric population, we must seek methods to address the psychosocial needs of children living with a craniofacial difference. Our multidisciplinary craniofacial team concluded our second-year participating in overnight summer camps for our patients with cleft-craniofacial conditions. We worked with 2 different organizations to host the camps each year. Over the course of 2 years, we enrolled more than 100 children, 7-15 years of age, in 1-week, overnight camp experiences. Campers participated in activities to promote team building, self-esteem, confidence, and social awareness. We share the perspectives of the campers and their parents, the camp staff, and the craniofacial team members.