Psychosocial Experiences of Spanish-Speaking Parents of Children With Craniofacial Microsomia.

Craniofacial microsomia (CFM) and microtia psychosocial research in the US is primarily with English-speaking participants. Given that 19% of the US is Latino, and there is a higher prevalence of CFM in Latino populations, this study aims to describe psychosocial experiences related to CFM among Spanish-speaking Latino caregivers to better inform health care. Narrative interviews (mean 73±17 min) were completed in Spanish with parents of children with CFM aged 3 to 17 (mean age 10.

"I can't provide what my child needs": Early feeding experiences of caregivers of children with craniofacial microsomia.

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 34 children with CFM participated in remote narrative interviews.

A Conceptual Thematic Framework of Psychological Adjustment in Caregivers of Children with Craniofacial Microsomia.

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 Education (CARE)' program sought to develop a conceptual thematic framework of caregiver adjustment to CFM.

Early Experiences of Parents of Children With Craniofacial Microsomia.

Objective: To describe the early health care experiences of parents of children with craniofacial microsomia (CFM), a congenital diagnosis often identified at birth.

Design: Qualitative descriptive.

Setting: Homes of participants.

Developmental Risk for Infants with Cleft Lip with or Without Cleft Palate Based on Caregiver-Proxy Reports.

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 development. Time (T) 1, prior to lip closure; T2, 2 months post lip closure.

Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review.

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 speech production in CFM.

Evaluation of Research Diagnostic Criteria in Craniofacial Microsomia.

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.

Establishing an International Interdisciplinary Research Network in Craniofacial Microsomia: The CARE Program.

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 caregivers remains limited. This article describes a research program designed to address these knowledge gaps, and identify opportunities for psychosocial intervention and improved healthcare provision.

Observations by Caregivers Using the Infant with Clefts Observation Outcomes Instrument (iCOO): A Comparison of Three Versus Seven-day Daily Diaries.

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).

Characterising the speech phenotype in individuals with craniofacial microsomia: a scoping review protocol.

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. Systematic reviews of clinical and surgical interventions related to CFM have been published, but no methodological review of speech outcomes exists.

Feasibility and Acceptability of the Promoting Resilience in Stress Management-Parent (PRISM-P) Intervention for Caregivers of Children with Craniofacial Conditions.

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 inform program adaptation.

Design: In this single-arm cohort study, participants completed a baseline demographic questionnaire, the PRISM-P program, and an exit interview.

Validation of a Process for Shared Decision-Making in Pediatrics.

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 options; then 4) calibrating the SDM approach based on other relevant decision characteristics.

Methods: We videotaped a purposive sample of pediatric inpatient and outpatient encounters at a single US children's hospital. Clinicians from 7 clinical services (craniofacial, neonatology, oncology, pulmonary, pediatric intensive care, hospital medicine, and sports medicine) were eligible.

A Cross-Sectional Study of the Nutritional Status of Infants with Orofacial Clefts in the First 6 Months of Life.

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 measurement at a single US regional tertiary care pediatric hospital with an interdisciplinary cleft team between 2010 and 2020 were included.

Damaging variants in FOXI3 cause microtia and craniofacial microsomia.

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 linkage analysis in patients and families with microtia and CFM of unknown genetic etiology.

Caregiver Observations of Infant Well-Being Before and After Cleft Lip Surgery.

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 caregivers before (T0), immediately after (T1), and 2-months after (T2) cleft lip (CL) surgery. Analyses included descriptive statistics, correlations, -tests, and generalized estimating equations.

A decade of clinical research on clinical characteristics, medical treatments, and surgical treatments for individuals with craniofacial microsomia: What have we learned?

Aim: This article provides a review of a decade of clinical research studies on clinical features, medical interventions, 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.

Exploration of Caregiver Interrater Agreement and Test-Retest Reliability on the Infant Cleft Observer Outcomes (iCOO).

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 interrater reliabilities to inform whether differences in caregiver perspective might affect the iCOO.

Parental Reports of Intervention Services and Prevalence of Teasing in a Multinational Craniofacial Microsomia Pediatric Study.

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.

Infant with Clefts Observation Outcomes Instrument (iCOO): A New Outcome for Infants and Young Children with Orofacial Clefts.

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 advertisements.

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

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), a component of the U2 small nuclear ribonucleoprotein complex, in probands.

Evaluating the Utility of Routine Computed Tomography Scans after Cranial Vault Reconstruction for Children with Craniosynostosis.

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 conducted a retrospective study of postoperative computed tomography reports for patients with craniosynostosis following cranial vault reconstruction during a 9-year period at their tertiary care pediatric hospital.

Distinguishing Between Lambdoid Craniosynostosis and Deformational Plagiocephaly: A Review of This Paradigm Shift in Clinical Decision-Making and Lesson for the Future.

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.

Impact of low-frequency coding variants on human facial shape.

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 face into 31 hierarchically arranged segments to model facial morphology at multiple levels, and generated multi-dimensional phenotypes representing the shape variation within each segment.

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.