It has been well established that mothers of children diagnosed with cancer experience high levels of distress. Latina mothers may be at risk for higher levels of distress related to language barriers, cultural factors, and economic, immigration, and acculturation stressors. Despite the increasing US Latino population, few studies have examined the role of culture within pediatric oncology, including how mothers cope with their child's cancer. This study used qualitative analysis of 24 sessions from 3 Latina and 3 European-American mothers of children recently diagnosed with cancer. The session transcripts were divided into a total of 2,328 thought segments that were then analyzed for themes using a collaborative iterative process. Analysis identified 9 shared coping themes that included, with some variations: gathering information, professional help-seeking, activities, problem solving, positive thinking, present orientation, reframing, avoidance, and religion. Three themes were culturespecific: only European-American mothers discussed compromise, while normalization and perspective taking were unique to the Latina mothers and suggest that the cultural value of simpatía influences coping. Clinical and research recommendations are discussed.

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 U2 small nuclear ribonucleoprotein complex, in probands. We describe twenty individuals from seven kindreds harboring de novo or transmitted haploinsufficient variants in SF3B2. Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus results in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The results establish haploinsufficient variants in SF3B2 as the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases.

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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.