Kathleen A. Kapp-Simon

Neurodevelopment of children with single suture craniosynostosis: a review

IntroductionRates of neurocognitive risk range from 35–50% of school-aged children with isolated single suture craniosynostosis (SSC). It has been hypothesized that early surgical intervention to release suture fusion reduces risk for increased intracranial pressure (ICP) and the corresponding risk to neurodevelopment. However, studies assessing children with SSC have been inconsistent in finding an association between neurocognitive development, age of surgery, and ICP.ReviewSSC produces notable distortion of the cranial vault and underlying brain mass. Although a linear relationship between skull distortion, ICP, and neurocognitive deficits has generally been assumed, recent studies have postulated an interactive process between the skull and developing brain that results in neuroanatomical changes that are not limited to areas directly beneath the fused suture. The specific neuropsychological deficits identified in children with SSC including problems with attention and planning, processing speed, visual spatial skills, language, reading, and spelling may be related to the anatomic differences that persist after correction of suture fusion.ConclusionsAvailable literature on neurocognitive development of children with SSC is suggestive of mild but persistent neuropsychological deficits, which become more significant as cognitive demands increase at school age. Anatomical studies of children without SSC are beginning to identify particular groups of brain structures that if disrupted or malformed, may be associated with specific cognitive deficits. Controlled research investigating the relationship between persistent anatomical changes and neurocognitive functioning of school-aged children with SSC is needed.

Observed Social Interaction Patterns in Adolescents with and without Craniofacial Conditions

OBJECTIVE This study examined social interactions of adolescents in a natural environment (school lunch room) to determine if there were identifiable differences in social behavior between children with and without craniofacial conditions (CFC). DESIGN This was an observational study comparing social interaction skills of children with CFC to peers without craniofacial conditions. SETTING The observations were conducted in the respective school lunch rooms of the adolescents with CFC. PARTICIPANTS Clinical subjects were 13 adolescents (4 male) with various craniofacial conditions (5 cleft lip and palate) and 12 (4 male) peers without CFC present in the same lunch room. MAIN OUTCOME MEASURES An unknown observer obtained 45 minutes of structured observational data on subject initiations, responses, nondirected comments, and extended conversations over two to three lunch room periods. Data was coded on the Epson HX-20 for type, frequency, and duration of social contact. Specific measures included: subject initiations and responses, peer initiations and responses, conversations events, and nondirected comments. RESULTS Statistically significant differences were found between CFC and comparison subjects (CS) on each social interaction variable measured. CS initiated more contacts, received positive responses more frequently, and engaged in longer conversations than CFC subjects ([F (1,24) = 14.1, p < .01; F (1,24) = 67.2, p < .001; F (1,24) = 5.50, p < .05]. CS were approached by and responded appropriately to peers more often [F (1,24) = 28.1, p < .001; F (1,24) = 43.2, p < .001]. Subjects with CFC were more likely to produce nondirected comments (N = 7, x = 0, p < .01). CONCLUSIONS A significant number of children with CFC behaved differently than their peers in a natural, daily occurring situation. They were often at the periphery of the group, observers rather than participants in conversation.

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

Craniosynostosis, the premature fusion of one or more cranial sutures, affects 1 in 2,500 live births. Isolated single‐suture fusion is most prevalent, with sagittal synostosis occurring in 1/5,000 live births. The etiology of isolated (nonsyndromic) single‐suture craniosynostosis is largely unknown. In syndromic craniosynostosis, there is a highly nonrandom pattern of causative autosomal dominant mutations involving TWIST1 and fibroblast growth factor receptors (FGFRs). Prior to our study, there were no published TWIST1 mutations in the anti‐osteogenic C‐terminus, recently coined the TWIST Box, which binds and inhibits RUNX2 transactivation. RUNX2 is the principal master switch for osteogenesis. We performed mutational analysis on 164 infants with isolated, single‐suture craniosynostosis for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIc exons of FGFR2, and the Pro250Arg site of FGFR3. We identified two patients with novel TWIST Box mutations: one with isolated sagittal synostosis and one with isolated coronal synostosis. Kress et al. [ 2006 ] reported a TWIST Box “nondisease‐causing polymorphism” in a patient with isolated sagittal synostosis. However, compelling evidence suggests that their and our sequence alterations are pathogenic: (1) a mouse with a mutation of the same residue as our sagittal synostosis patient developed sagittal synostosis, (2) mutation of the same residue precluded TWIST1 interaction with RUNX2, (3) each mutation involved nonconservative amino acid substitutions in highly conserved residues across species, and (4) control chromosomes lacked TWIST Box sequence alterations. We suggest that genetic testing of patients with isolated sagittal or coronal synostosis should include TWIST1 mutational analysis.

Measuring the quality of life of youth with facial differences.

Objective: To describe the Facial Differences Module of the Youth Quality of Life Instruments (YQOL-FD) and present results evaluating domain structure, internal consistency, reproducibility, validity, and respondent burden. Design: A multisite observational study of youth aged 11 to 18 years with acquired or congenital facial differences. Participants: Three hundred seven youth recruited through clinics at four U.S. sites and one U.K. site. Eligible youth were aged 11 to 18 years, had a noticeable facial difference, could read at the fifth-grade level, and, for youth with facial burns, were at least 2 years posttrauma. Measures: Included were the newly developed YQOL-FD, the generic Youth Quality of Life Instrument, the Childrens Depression Inventory, and demographics. Results: Principal components analysis showed five significant factors that closely matched the domain structure hypothesized a priori. Domain scores of the YQOL-FD showed acceptable internal consistency and reproducibility. Scores were more strongly correlated with the Childrens Depression Inventory score than with self-rating of health as predicted. All domain scores showed adequate discrimination among levels of general quality of life (Wilks λ = 0.84, p = .001). The median time to complete the module was 10 minutes. Discussion: The YQOL Facial Differences Module augmented information obtained from the generic YQOL measure by addressing specific concerns. The module was well received by youth and showed acceptable measurement properties for evaluating the perceived quality-of-life status of youth facial differences. Future use in longitudinal studies and clinical trials is anticipated to evaluate the ability to detect change.

Psychological Interventions for the Adolescent with Cleft Lip and Palate

The normal developmental tasks of adolescence include individuation from family, development of sense of personal identity, and establishment of satisfactory peer relationships. Accomplishment of each of these tasks is potentially more difficult for the adolescent who is also coping with the ongoing treatment demands of cleft lip and palate or other craniofacial disorders (CFA). This article presents treatment strategies that can be used by multidisciplinary teams to assist the adolescent with CFA in mastering age appropriate developmental tasks.

Parameters of Care for Craniosynostosis

Background A multidisciplinary meeting was held from March 4 to 6, 2010, in Atlanta, Georgia, entitled “Craniosynostosis: Developing Parameters for Diagnosis, Treatment, and Management.” The goal of this meeting was to create parameters of care for individuals with craniosynostosis. Methods Fifty-two conference attendees represented a broad range of expertise, including anesthesiology, craniofacial surgery, dentistry, genetics, hand surgery, neurosurgery, nursing, ophthalmology, oral and maxillofacial surgery, orthodontics, otolaryngology, pediatrics, psychology, public health, radiology, and speech-language pathology. These attendees also represented 16 professional societies and peer-reviewed journals. The current state of knowledge related to each discipline was reviewed. Based on areas of expertise, four breakout groups were created to reach a consensus and draft specialty-specific parameters of care based on the literature or, in the absence of literature, broad clinical experience. In an iterative manner, the specialty-specific draft recommendations were presented to all conference attendees. Participants discussed the recommendations in multidisciplinary groups to facilitate exchange and consensus across disciplines. After the conference, a pediatric intensivist and social worker reviewed the recommendations. Results Consensus was reached among the 52 conference attendees and two post hoc reviewers. Longitudinal parameters of care were developed for the diagnosis, treatment, and management of craniosynostosis in each of the 18 specialty areas of care from prenatal evaluation to adulthood. Conclusions To our knowledge, this is the first multidisciplinary effort to develop parameters of care for craniosynostosis. These parameters were designed to help facilitate the development of educational programs for the patient, families, and health-care professionals; stimulate the creation of a national database and registry to promote research, especially in the area of outcome studies; improve credentialing of interdisciplinary craniofacial clinical teams; and improve the availability of health insurance coverage for all individuals with craniosynostosis.

Cleft palate and craniofacial teams in the United States and Canada : A national survey of team organization and standards of care

Objective This study is the first comprehensive national survey of the organization, function, and composition of cleft palate and craniofacial teams in the U.S. and Canada. Complete descriptions of cleft and craniofacial teams are not currently provided in the literature, and this study will provide an overview for health services research and policy use. Conducted by a national organization, this study examines teams in detail using a pretested and standardized methodology. Design All known (n = 296) North American cleft palate and craniofacial teams were contacted for team listing purposes using a self-assessment method developed by an interdisciplinary committee of national stature. Team clinical leaders classified their teams into several possible categories and provided data on team care. The response rate was 83.4% (n = 247). Results The distribution of listed teams was: 105 (42.5%) cleft palate teams, 102 (41.3%) craniofacial teams (including craniofacial teams that are both cleft palate and craniofacial teams), 12 (4.9%) geographically listed teams, and 28 (11.3%) other teams (including interim cleft palate teams, low-density cleft palate teams, and evaluation and treatment review cleft palate teams). Eighty-five percent of all teams systematically collected and stored clinical data on their teams patient population in the past year. Furthermore, 50% of all teams had a quality assurance program in place to measure treatment outcomes. Other findings presented include the annual number of face-to-face team meetings; new and follow-up patient censuses; and surgical rates for initial repair of cleft lip/palate, orthognathic/osteotomy procedures, and intracranial/craniofacial procedures. Conclusions Two of five North American teams classify themselves as having the capacity to provide both cleft palate and craniofacial care. An additional two of five teams limit their primary role to cleft palate care. Issues are raised regarding the distribution of teams, the regionalization of craniofacial services, health policy, and resource allocation.

Multisite study of infants with single-suture craniosynostosis : Preliminary report of presurgery development

Objective To evaluate the cognitive and language development of untreated infants with a single suture craniosynostosis at time of diagnosis. Design and Participants The study presents time 1 assessments on the first 100 infants with a single suture craniosynostosis (sagittal, metopic, unilateral coronal, and lambdoid) referred to the Infant Learning Project, a prospective, multisite, longitudinal study evaluating neurocognitive development. Main Outcome Measures Infants were assessed with the mental (Mental Development Index [MDI]) and motor scales (Psychomotor Developmental Index [PDI]) of the Bayley Scales of Infant Development and the Preschool Language Scale receptive (PLS-AC) and expressive (PLS-EC) language scales. Mothers completed the Parenting Stress Inventory, a brief measure of intelligence (maternal IQ [MAT-IQ]), and provided information regarding family socioeconomic status (SES). Results As a group, infants scored significantly lower than the normative data on the MDI (91.9), PDI (83.5), PLS-AC (90.4), and PLS-EC (95.8), and the distribution of scores differed significantly from the expected distribution. MAT-IQ and SES were significantly correlated (.47, p < .01) with mothers of higher IQ coming from higher SES groups. Both MAT-IQ and SES were significantly negatively correlated with life stress events; however, neither MAT-IQ nor SES was correlated with any of the infant development scores. Conclusions There may be a greater developmental risk for infants with a single suture craniosynostosis than previously believed. However, control group data will be necessary to confirm findings.

Addressing quality of life issues in adolescents: Social skills interventions

Objective The purpose of this study was to determine whether social skills training can improve the social interaction skills of adolescents with craniofacial conditions (CFCs) in a natural environment (school lunchroom). Design This study used a pre-post between-group comparison design. Differences between treatment and control subjects were analyzed via a repeated measures analysis of variance. Setting The observations were conducted in the respective school lunchrooms of the adolescents. Social skills groups were conducted in an outpatient clinic setting. Main Outcome Measures Structured data based on 45 minutes of observation was coded for type, frequency, and duration of social contact. Specific measures included subject initiations and responses, peer initiations and responses, conversation events, total positive communication, and frequency of nondirected comments. Results Both target and peer-controlled total communication improved across time with adolescents receiving social skills intervention showing significantly more improvement than those adolescents not receiving direct social skills interventions. Adolescents receiving treatment participated in significantly more target initiated conversations lasting at least three interchanges and showed a trend toward a greater frequency of target initiations and positive responses to peer initiations. Peers were more likely to respond to treatment subject initiations after intervention. Fewer treatment subjects used nondirected communication, whereas control subjects continued to use nondirected communication at a slightly increased frequency. Conclusions This study provides preliminary evidence that social skills training can increase the frequency of positive social interactions with peers for adolescents with CFCs.

Mental Development in Infants with Cleft Lip and/or Palate

OBJECTIVE Investigated mental development in infants and toddlers with cleft lip and/or palate (CLP). DESIGN This was a retrospective analysis of developmental scores on qualified children between 4 and 36 months of age. Cross-sectional analysis included children in four age groups (6, 12, 18, and 24 months); longitudinal analysis included children at mean age 9.1 (range = 4 to 15) months at Time 1 and 24 months (range = 16 to 36) at Time 2. PARTICIPANTS Cross-sectional analysis included 180 children (59% male participants) in four diagnostic groups (cleft lip only [CL], cleft lip and palate [CLP], cleft palate only [CP], and Pierre Robin). The longitudinal sample included 85 children (64% male children) in the same diagnostic groups. MAIN OUTCOME MEASURES Mental Scale (MDI) of the Bayley Scales of Infant Development. RESULTS Mean MDIs were in the average range but decreased significantly between youngest and oldest groups in both cross-sectional (F(3,179) = 4.9, p<.01) and longitudinal samples (F(1,84) = 6.87, p<.01). There was a significant difference among cleft types (F(3,179) = 3.5, p<.025). Infants with CL obtained the highest scores, and infants with Pierre Robin Sequence obtained the lowest. Perceptual-motor development in the first year of life was predictive of developmental status at age 2. CONCLUSIONS The number of children with CLP who may be at risk for developmental problems during the second year of life is greater than would be expected. Children at greatest risk may demonstrate early delays in acquisition of perceptual-motor skills during the first year of life.