Infant AFAR: Automated facial action recognition in infants.

Automated detection of facial action units in infants is challenging. Infant faces have different proportions, less texture, fewer wrinkles and furrows, and unique facial actions relative to adults. For these and related reasons, action unit (AU) detectors that are trained on adult faces may generalize poorly to infant faces. To train and test AU detectors for infant faces, we trained convolutional neural networks (CNN) in adult video databases and fine-tuned these networks in two large, manually annotated, infant video databases that differ in context, head pose, illumination, video resolution, and infant age. AUs were those central to expression of positive and negative emotion. AU detectors trained in infants greatly outperformed ones trained previously in adults. Training AU detectors across infant databases afforded greater robustness to between-database differences than did training database specific AU detectors and outperformed previous state-of-the-art in infant AU detection. The resulting AU detection system, which we refer to as Infant AFAR (Automated Facial Action Recognition), is available to the research community for further testing and applications in infant emotion, social interaction, and related topics.

Behavioral and Social Functioning of Children With and Without Positional Plagiocephaly: Late Infancy to School Age.

Positional plagiocephaly and/or brachycephaly (PPB) is associated with cognition, motor, and other developmental outcomes, but little is known about the social-behavioral adjustment of children with PPB. The primary aim of this study was to compare the social-behavioral development of preschool and school-age children with and without PPB and to examine the potential moderating effects of PPB severity on group differences.Two hundred twenty children with a history of PPB and 164 controls participated in at least one behavioral assessment at 4-11 months, 18 months, 36 months, and 7 years. The frequencies of observed problem behaviors and social competence were estimated using the Child Behavior Checklist Ages 1.5-5 (CBCL/1.5-5), Caregiver-Teacher Report Form(C-TRF), CBCL/6-18, and Teacher Report Form.Children with PPB were similar to controls on the internalizing, externalizing, or total problems composites. At 7 years, CBCL/6-18 total competence scores were significantly lower in children with histories of PPB than controls. In analyses stratified by PPB severity, we found that children with moderate/severe PPB had slightly higher scores on the C-TRF internalizing scale at 36 months and lower total competence scores at age 7 years. Children who had a history of mild PPB were similar to controls on all outcomes.This study is the first to examine social and behavioral outcomes in a large cohort of children with and without a history of PPB. We found limited evidence of an association between PPB and parent and teacher-reported social-emotional and behavioral adjustment through early school-age.

Prediction of school-age IQ, academic achievement, and motor skills in children with positional plagiocephaly.

INTRODUCTION: Children with positional plagiocephaly and/or brachycephaly (PPB) are at risk of early developmental delay, but little is known about early life factors associated with school-age neurodevelopment. This study examined associations of demographic characteristics, prenatal risk factors and early neurodevelopment assessment with school-age IQ, academic performance, and motor development in children with PPB. METHODS: The study sample consisted of 235 school-age children with PPB followed since infancy. Outcome measures included IQ using the Differential Ability Scales-Second Edition, academic achievement as measured by the Wechsler Individualized Achievement Tests-Third Edition), and motor function using the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition. Linear regression was used to examine the incremental improvement of model fit of demographics, prenatal and early life characteristics, severity of PPB, and neurodevelopment at ages 7, 18, and 36 months as measured by the Bayley-3 on school-age scores. RESULTS: Mean age at school-age assessment was 9.0 years. Adjusted r2 for demographic, prenatal, and early life risk factors ranged from 0.10 to 0.22. Addition of PPB severity and Bayley-3 measures at ages 7 and 18 months did not meaningfully change model fit. Adjusted r2 after inclusion of Bayley-3 at 36 months ranged from 0.35 to 0.41. CONCLUSION: This study suggests that PPB severity and very early life neurodevelopment have little association with school-age neurodevelopment above and beyond demographic and early life risk factors. However, preschool-age neurodevelopmental assessment may still be useful in identifying children with PPB at risk for delay and who may benefit from early intervention.

Behavioral Adjustment of Preschool Children With and Without Craniofacial Microsomia.

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 Check List (CBCL 1.5-5); linear regressions with standardized effect sizes (ES) adjusted for sociodemographic confounds. RESULTS: Child Behavior Check Lists for 89 cases and 72 controls (average age 38.3 ± 1.9 months). Children were male (54%), white (69%), and of Latino ethnicity (47%). Cases had microtia with mandibular hypoplasia (52%), microtia only (30%), or other CFM-associated features (18%). Nearly 20% of cases had extracranial anomalies. Composite CBCL scores were in the average range compared to test norms and similar for cases and controls. On the subscales, cases' parents reported higher Anxious/Depressed scores (ES = 0.35, P = .04), Stress Problems (ES = 0.40, P = .04), Anxiety Problems (ES = 0.34, P = .04), and Autism Spectrum Problems (ES = 0.41, P = .02); however, the autism subscale primarily reflected speech concerns. Among cases, more problems were reported for children with extracranial anomalies and certain phenotypic categories with small ES. CONCLUSIONS: Behavioral adjustment of preschoolers with CFM was comparable to peers. However, parental reports reflected greater concern for internalizing behaviors; thus, anxiety screening and interventions may benefit children with CFM. Among cases, more problems were reported for those with more complex presentations of CFM. Craniofacial microsomia-related speech problems should be distinguished from associated psychosocial symptoms during developmental evaluations.

Cognitive, Motor, and Language Development of Preschool Children With Craniofacial Microsomia.

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 without CFM (controls) were included from pediatric practices and community advertisements. This study reports on outcomes assessed when participants were an average age of 38.4 months (SD = 1.9). MAIN OUTCOME MEASURES: We assessed cognitive and motor skills using the Bayley Scales of Infant and Toddler Development, third edition (Bayley-III), and language function using subtests from the Clinical Evaluation of Language Fundamentals-Preschool, second edition (CELF-P2). RESULTS: Case-control differences were negligible for Bayley-III cognitive (effect sizes [ES] = -0.06, P = .72) and motor outcomes (ES = -0.19, P = .25). Cases scored lower than controls on most scales of the CELF-P2 (ES = -0.58 to -0.20, P = .01 to .26). Frequency counts for "developmental delay" (ie, one or more scores > 1 SD below the normative mean) were higher for cases (39%) than controls (15%); however, the adjusted odds ratio = 1.73 (P = 0.21) was not significant. Case-control differences were most evident in children with microtia or other combinations of CFM-related facial features. CONCLUSIONS: Cognitive and motor scores were similar for preschool-aged children with and without CFM. However, children with CFM scored lower than controls on language measures. We recommend early monitoring of language to identify preschoolers with CFM who could benefit from intervention.

Do Infant Motor Skills Mediate the Association Between Positional Plagiocephaly/Brachycephaly and Cognition in School-Aged Children?

OBJECTIVE: Positional plagiocephaly/brachycephaly (PPB) is associated with lower cognitive scores in school-aged children. This study tested the hypothesis that infant motor skills mediate this association. METHODS: Children with a history of PPB (cases, n = 187) and without PPB (controls, n = 149) were followed from infancy through approximately 9 years of age. Infant motor skills were assessed using the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-3), and cognition was assessed using the Differential Ability Scales, 2nd edition (DAS-2). The Bayley-3 motor composite was examined as a mediator of the association between PPB and DAS-2 general cognitive ability (GCA) scores. In secondary analyses, mediation models were examined for the DAS-2 verbal ability, nonverbal ability, and working memory scores; models using the Bayley-3 fine versus gross motor scores also were examined. RESULTS: Cases scored lower than controls on the DAS-GCA (ß = -4.6; 95% CI = -7.2 to -2.0), with an indirect (mediated) effect of ß = -1.5 (95% CI = -2.6 to -0.4) and direct effect of ß = -3.1 (95% CI = -5.7 to -0.5). Infant motor skills accounted for approximately 33% of the case-control difference in DAS-2 GCA scores. Results were similar for other DAS-2 outcomes. Evidence of mediation was greater for Bayley-3 gross motor versus fine motor scores. CONCLUSION: Infant motor skills partially mediate the association between PPB and cognition in school-aged children. Monitoring motor development and providing intervention as needed may help offset associated developmental concerns for children with PPB. IMPACT: To our knowledge, this study is the first longitudinal investigation of the development of children with and without PPB from infancy through the early school years and the first to examine motor skills as a mediator of cognitive outcomes in this population. The findings highlight the importance of early motor skills for other developmental outcomes. LAY SUMMARY: Infants' motor skills are related to the development of PPB and its association with later cognition. If your child has PPB, physical therapists may have an important role in assessing and providing treatment to promote motor development.

Motor Function in School-Aged Children With Positional Plagiocephaly or Brachycephaly.

OBJECTIVE: To determine whether children with a history of positional plagiocephaly/brachycephaly (PPB) show persistent deficits in motor development. METHODS: In a longitudinal cohort study, we completed follow-up assessments with 187 school-aged children with PPB and 149 participants without PPB who were originally enrolled in infancy. Primary outcomes were the Bruininks-Oseretsky Test of Motor Proficiency-Second Edition (BOT-2) composite scores. RESULTS: Children with PPB scored lower than controls on the BOT-2. Stratified analyses indicated that differences were restricted to children who had moderate-severe PPB. No consistent differences were observed in children who had mild PPB. CONCLUSION: Children who had moderate-severe PPB in infancy show persistent differences in motor function. We suggest close developmental monitoring and early intervention to address motor deficits.

Surgical Approach and Periprocedural Outcomes by Race and Ethnicity of Children Undergoing Craniosynostosis Surgery.

BACKGROUND: Surgical repair for craniosynostosis varies depending on the infant's age, location of suture fusion, and approach (e.g., open versus endoscopic). Existing data suggest possible racial and ethnic disparities in timely access to surgical care for craniosynostosis that may, in turn, be associated with surgical approach and perioperative outcomes. This study examined racial and ethnic variation in craniosynostosis operations by surgical approach and perioperative outcomes. METHODS: Data were collected by the 2013 to 2015 Pediatric National Surgical Quality Improvement Program. Patients aged younger than 24 months with diagnoses and procedure codes consistent with surgery for craniosynostosis were identified. Periprocedural characteristics and surgical approach (open, endoscopic/minimally invasive, or both) were examined descriptively, overall, and separately by race and ethnicity. RESULTS: The authors identified 1982 admissions. Mean age at surgery was 7.8 ± 4.7 months. Ninety-one percent of procedures were classified as open operations, 5.8 percent were endoscopic, and 3.4 percent were both open and endoscopic. Relative to white/non-Hispanic patients, Hispanic and nonwhite patients underwent surgery at older ages, experienced longer operative and anesthesia times, and were hospitalized longer. Hispanic patients had the highest rates of open operations. CONCLUSIONS: These data suggest that Hispanic and nonwhite patients tend to undergo craniosynostosis repair at older ages and to have lengthier operations than white/non-Hispanic patients. Although we were unable to examine the root cause(s) of these differences, delayed diagnosis is one factor that might result in surgery at an older age and more complex operations requiring open surgery. Prospective studies examining racial/ethnic disparities are needed to inform a comparison of outcomes associated with surgical approach.

Speech, Language, and Communication Skills of Adolescents With Craniofacial Microsomia.

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 CFM (n = 107) and demographically similar controls (n = 306). We assessed speech intelligibility, articulation, receptive and expressive language, and parent and teacher report measures of communication. Hearing status was also screened at the study visit. Group differences were estimated using linear regression analyses with standardized effect sizes (ES) adjusted for demographic characteristics (adjusted ES) or negative binomial regression. Results Youth with CFM scored lower than unaffected peers on most measures of intelligibility, articulation, expressive language, and parent- and-teacher-rated communication. Differences were most pronounced among participants with CFM who had mandibular hypoplasia plus microtia (adjusted ES = -1.15 to -0.18). Group differences were larger in youth with CFM who failed the hearing screen (adjusted ES = -0.73 to 0.07) than in those who passed the hearing screen (adjusted ES = -0.34 to 0.27). Conclusions Youth with CFM, particularly those with mandibular hypoplasia plus microtia and/or hearing loss, should be closely monitored for speech and language concerns. Further research is needed to identify the specific needs of youth with CFM as well as to document the course of speech and language development in children with CFM.

Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia.

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 mothers of infants with and without CFM. The study included 108 children with and 84 children without CFM. Logistic regression with adjustment for demographic factors was used to evaluate associations between maternal exposures of interest and risk for CFM overall, as well as for different phenotypic sub-groups of children on the CFM spectrum. RESULTS: We found a statistically significant association between diabetes mellitus (DM) and CFM (OR 4.01, 95% CI 1.6-10.5). The association was slightly attenuated after adjustment for BMI. Higher parity was also associated with increased risk for CFM (OR 2.0, 95% CI 1.0-4.0). Vitamin A consumption and/or liver consumption was associated with a 70% lower risk compared with non-users (OR 0.3, 95% 0.1-0.8). Maternal age at the time of pregnancy was not associated with CFM. CONCLUSIONS: These analyses contribute evidence linking maternal DM with an elevated risk of having an infant with CFM, which is consistent with previous research and adds to the body of knowledge about the strength of this association. Further study is warranted to understand the potential mechanisms underlying the effect of DM in the developing embryo.

Dynamics of Face and Head Movement in Infants with and without Craniofacial Microsomia: An Automatic Approach.

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 113 ethnically diverse 13-month-old infants (n = 63 cases with CFM and n = 50 unaffected matched controls). They were observed in 2 emotion induction tasks designed to elicit positive and negative effects. Facial and head movement was automatically measured using a computer vision-based approach. Expressiveness was quantified as the displacement, velocity, and acceleration of 49 facial landmarks (eg, lip corners) and head pitch and yaw. RESULTS: For both cases and controls, all measures of expressiveness strongly differed between tasks. Case-control differences were limited to infants with microtia plus mandibular hypoplasia and other associated CFM features, which were the most common phenotypes and were characterized by decreased expressiveness relative to control infants. CONCLUSIONS: Infants with microtia plus mandibular hypoplasia and those with other associated CFM phenotypes were less facially expressive than same-aged peers. Both phenotypes were associated with more severe involvement than microtia alone, suggesting that infants with more severe CFM begin to diverge in expressiveness from controls by age 13 months. Further research is needed to both replicate the current findings and elucidate their developmental implications.

Cognitive Outcomes and Positional Plagiocephaly.

: media-1vid110.1542/5972296741001PEDS-VA_2018-2373Video Abstract BACKGROUND: Studies have revealed an association between positional plagiocephaly and/or brachycephaly (PPB) and development, although little is known about long-term outcomes. We examined cognition and academic achievement in children with and without PPB, testing the hypothesis that children who had PPB as infants would score lower than controls. METHODS: We enrolled 187 school-aged children with a history of PPB and 149 controls. Exposures were the presence or absence and severity of infancy PPB (mild, moderate to severe). Cognitive and academic outcomes were assessed by using the Differential Ability Scales, Second Edition and Wechsler Individual Achievement Test, Third Edition, respectively. RESULTS: Children with PPB scored lower than controls on most scales of the Differential Ability Scales, Second Edition (standardized effect sizes [ESs] = -0.38 to -0.20) and the Wechsler Individual Achievement Test, Third Edition (ESs = -0.22 to -0.17). Analyses by PPB severity revealed meaningful differences among children with moderate to severe PPB (ESs = -0.47 to -0.23 for 8 of 9 outcomes), but few differences in children with mild PPB (ESs = -0.28 to 0.14). CONCLUSIONS: School-aged children with moderate to severe PPB scored lower than controls on cognitive and academic measures; associations were negligible among children with mild PPB. The findings do not necessarily imply that these associations are causal; rather, PPB may serve as a marker of developmental risk. Our findings suggest a role for assessing PPB severity in clinical practice: providing developmental assessment and intervention for infants with more severe deformation and reassurance and anticipatory guidance for patients with mild deformation.

Methods and Challenges in a Cohort Study of Infants and Toddlers With Craniofacial Microsomia: The Clock Study.

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 demographic and clinical characteristics of the cohort. SETTING: Craniofacial and otolaryngology clinics at 5 study sites. PARTICIPANTS: Infants with CFM and unaffected infants (controls) ages 12 to 24 months were recruited from the same geographical regions and followed to age 36 to 48 months. METHODS: Phenotypic, neurodevelopmental, and facial expression assessments were completed during the first and third waves of data collection (time 1 and time 3, respectively). Medical history data were taken at both of these time points and during an intermediate parent phone interview (time 2). RESULTS: Our cohort includes 108 cases and 84 controls. Most cases and controls identified as white and 55% of cases and 37% of controls identified as Hispanic. Nearly all cases had microtia (95%) and 59% had mandibular hypoplasia. Cases received extensive clinical care in infancy, with 59% receiving care in a craniofacial clinic and 28% experiencing at least one surgery. Study visits were completed at a study site (92%) or at the participant's home (8%). CONCLUSIONS: The CLOCK study represents an effort to overcome the challenges of characterizing the phenotypic and neurodevelopmental outcomes of CFM in a large, demographically and geographically diverse cohort.

Infant/toddler motor skills as predictors of cognition and language in children with and without positional skull deformation.

PURPOSE: To estimate associations between early motor abilities (at two age points, 7 and 18 months on average) and cognitive/language outcomes at age 3. To determine whether these associations are similar for children with and without positional plagiocephaly and/or brachycephaly (PPB). METHODS: The Bayley Scales of Infant/Toddler Development 3 were given at all age points to 235 children with PPB and 167 without PPB. Linear regressions assessed longitudinal associations between fine and gross motor scales and cognition/language. Item analyses examined the contributions of specific motor skills. RESULTS: Associations between 7-month motor skills and cognition/language were modest overall (effect sizes [ES] = - 0.08 to 0.10, p = .13 to .95). At 18 months, both fine and gross motor skills were associated with outcomes for children with PPB (ES = 0.21 to 0.41, p < .001 to .01), but among those without PPB, only fine motor skills were associated with outcomes (ES = 0.21 to 0.27, p < .001 to .001). CONCLUSIONS: Toddlers' motor skills were associated with cognition and language at 3 years, particularly among children with PPB. Interventions targeting early motor development in infants and toddlers with PPB may have downstream benefits for other outcomes.

Neurodevelopment of Infants with and without Craniofacial Microsomia.

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 108 cases and 84 controls aged 12-24 months. Participants were assessed by the Bayley Scales of Infant and Toddler Development-Third Edition and the Preschool Language Scales-Fifth Edition (PLS-5). Facial features were classified with the Phenotypic Assessment Tool for Craniofacial Microsomia. RESULTS: After adjustment for demographic variables, there was little difference in Bayley Scales of Infant and Toddler Development-Third Edition or Preschool Language Scales-Fifth Edition outcomes between cases and controls. Estimates of mean differences ranged from -0.23 to 1.79 corresponding to standardized effect sizes of -.02 to 0.12 (P values from .30 to .88). Outcomes were better among females and those with higher socioeconomic status. Among cases, facial phenotype and hearing status showed little to no association with outcomes. Analysis of individual test scores indicated that 21% of cases and 16% of controls were developmentally delayed (OR 0.68, 95% CI 0.29-1.61). CONCLUSIONS: Although learning problems have been observed in older children with CFM, we found no evidence of developmental or language delay among infants. Variation in outcomes across prior studies may reflect differences in ascertainment methods and CFM diagnostic criteria.

Head shape at age 36 months among children with and without a history of positional skull deformation.

OBJECTIVE In this study, the authors examined head shape through age 36 months for children with and without a history of positional plagiocephaly and/or brachycephaly (PPB). METHODS Infants with PPB (cases) were identified through a craniofacial clinic at the time of diagnosis. Infants without diagnosed PPB were identified through a participant registry. Clinician ratings of 3D cranial images were used to confirm the presence or absence of PPB. The cohort included 235 case infants (diagnosed PPB, confirmed with 3D imaging), 167 unaffected controls (no diagnosed PPB, no deformation detected), and 70 affected controls (no diagnosed PPB, discernible skull deformation). Participants were seen in infancy (age 7 months, on average) and again at ages 18 and 36 months. At each visit, automated 3D measures of skull deformation quantified posterior flattening and generated an absolute asymmetry score. The authors also used automated 2D measures to approximate overall asymmetry (approximate oblique cranial length ratio) and calculate the cephalic index. They used linear regression to compare cases to unaffected controls and to compare affected versus unaffected controls on all measures. They also calculated the proportion of children in each group with "persistent PPB," defined as one or more head shape measures above the 95th percentile relative to unaffected controls at 36 months. RESULTS Head shape became more rounded and symmetric for children with and without PPB, particularly between infancy and age 18 months. However, children with PPB continued to show greater skull deformation and asymmetry than unaffected controls at age 36 months. These differences were large in magnitude, ranging from 1 to 2 standard deviations (SDs), and in most (85.6%) of the cases, there was evidence of persistent PPB at 36 months. Similarly, although differences were more modest (i.e., 0.26-0.94 SD), affected controls continued to exhibit skull deformation on most measures relative to unaffected controls and approximately 30% had persistent PPB. Within the case group, head shape at 36 months was similar for untreated patients with PPB and for those who received helmet treatment and for patients with and without a history of torticollis. CONCLUSIONS Although head shape continues to improve, children with a history of skull deformation in infancy continue to exhibit measureable cranial flattening and asymmetry through age 36 months.

Behavioral-Social Adjustment of Adolescents with Craniofacial Microsomia.

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. PARTICIPANTS: Participants included 142 adolescents with CFM (cases) and 316 peers without CFM (controls), their caregivers, and their teachers. MAIN OUTCOME MEASURES: Social and behavior measures from the Achenbach System of Empirically Based Assessments (ASEBA), the PedsQL: Core Version, and the Children's Communication Checklist-2nd edition (CCC-2) were used. Linear regression was used to estimate case-control differences and corresponding standardized effect sizes (ES) and 95% confidence intervals after adjustment for sociodemographic confounds. We also examined case-control differences by facial phenotype and hearing status. RESULTS: The magnitude and direction of case-control differences varied across assessment and respondent, but were generally modest (ES = -0.4 to 0.02, P values ranged from .003 to .85). There was little evidence for variation in case-control differences across different facial phenotypes or as a function of hearing status. CONCLUSIONS: Our results suggest that in spite of multiple risk factors, adolescents with CFM exhibit behavior problems no more frequently than their peers without CFM. Future studies of individuals with CFM should focus on resilience and social coping mechanisms, in addition to maladjustment.

Facial Expressiveness in Infants With and Without Craniofacial Microsomia: Preliminary Findings.

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 using the Facial Action Coding System for Infants and Young Children. SETTING: Five craniofacial centers: Children's Hospital of Los Angeles, Children's Hospital of Philadelphia, Seattle Children's Hospital, University of Illinois-Chicago, and University of North Carolina-Chapel Hill. PARTICIPANTS: Eighty ethnically diverse 12- to 14-month-old infants. MAIN OUTCOME MEASURES: FE was measured on a frame-by-frame basis as the sum of 9 observed facial action units (AUs) representative of positive and negative affect. RESULTS: FE differed between conditions intended to elicit positive and negative affect (95% confidence interval = 0.09-0.66, P = .01). FE failed to differ between cases and controls (ES = -0.16 to -0.02, P = .47 to .92). Among cases, those with and without mandibular hypoplasia showed similar levels of FE (ES = -0.38 to 0.54, P = .10 to .66). CONCLUSIONS: FE varied between positive and negative affect, and cases and controls responded similarly. Null findings for case/control differences may be attributable to a lower than anticipated prevalence of nerve palsy among cases, the selection of AUs, or the use of manual coding. In future research, we will reexamine group differences using an automated, computer vision approach that can cover a broader range of facial movements and their dynamics.

Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.

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 142 cases and 316 controls recruited from 26 cities across the United States and Canada. Phenotypic classification was based on integrated data from photographic images, health history, and medical chart reviews. Hearing screens were conducted for all participants. RESULTS: After adjustment for demographics, cases' average scores were lower than those of controls on all measures, but the magnitude of differences was small (standardized effect sizes, -0.01 to -0.3). There was little evidence that hearing status modified case-control group differences (Wald p > 0.05 for all measures). Twenty-five percent of controls and 38 percent of cases were classified as having learning problems (adjusted OR, 1.5; 95 percent CI, 0.9 to 2.4). Comparison of cases with and without learning problems indicated that those with learning problems were more likely to be male, Hispanic, and to come from lower income, bilingual families. Analyses by facial phenotype showed that case-control group differences were largest for cases with both microtia and mandibular hypoplasia (effect sizes, -0.02 to -0.6). CONCLUSIONS: The highest risk of cognitive-academic problems was observed in patients with combined microtia and mandibular hypoplasia. Developmental surveillance of this subgroup is recommended, especially in the context of high socioeconomic risk and bilingual families. Given the early stage of research on craniofacial microsomia and neurodevelopment, replication of these findings is needed. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Attention and executive function in children with and without single-suture craniosynostosis.

Children with single-suture craniosynostosis (SSC) have higher rates of learning disabilities and related neurocognitive problems than unaffected peers. Executive function (EF) and attention are thought to be areas of particular vulnerability, though studies to date have been limited by small sample sizes and a lack of control groups. We evaluated 179 school-aged children with SSC (cases) and 183 unaffected controls at an average age of 7 years using clinician-administered and parent and teacher report measures of EF and attention. Among children with SSC, we examined differences as a function of suture location (sagittal, metopic, unicoronal, or lambdoid) and age of corrective surgery. We used linear regression analyses, adjusted for potential confounders, to compare the two groups on all outcome measures. Cases scored lower than controls on most measures, though the magnitude of these differences was small and most were statistically insignificant. The largest relative deficit was on a measure of inhibitory control. Results changed little in sensitivity analyses adjusting for potential attrition bias and for the effects of developmental and academic interventions. Among cases, there were few differences in relation to the location of suture fusion or timing of surgery. Overall, we found limited evidence of broad deficits in EF or attention in children with SSC relative to unaffected controls. Neurocognitive development for children with SSC appears to be variable, across affected children and outcomes assessed. Further research is needed to understand the potential sources of this variability.