Columbia-Suicide Severity Rating Scale (C-SSRS) Reveals High Rates of Suicidality in 602 Patients With Cleft and Craniofacial Conditions.

INTRODUCTION: Little is known about rates of suicidal ideation and behavior among youth with cleft lip and/or palate (CLP) and other craniofacial conditions. METHODS: Records of patients ages 6 and older who were administered the Columbia-Suicide Severity Rating Scale (C-SSRS) Lifetime Version during routine multidisciplinary cleft or craniofacial team visits between 2019 and 2023 were examined. Demographics information, C-SSRS data, and diagnoses were assessed with statistics including t tests, the Fisher exact test, and odds ratios. RESULTS: A total of 1140 C-SSRS questionnaires across 602 (433 CLP and 169 craniofacial) patients with an average age of 11.2±3.7 years were included. Eighty-four (13.6%) patients endorsed lifetime suicidal ideation, 9 (1.5%) had at least one instance of suicidal behavior, 30 (5.0%) endorsed nonsuicidal self-injury, and 2 (0.3%) engaged in self-injurious behavior. Compared with CLP, those with other craniofacial conditions had similar odds of endorsing suicidal ideation and behavior ( P ≥0.05). Compared with those with isolated cleft palates, CLP had greater odds of endorsing suicidal ideation and behavior, though those differences were not significant ( P ≥0.05). Incidence of suicidality was unchanged before, during, and after the COVID-19 pandemic ( P ≥0.05). Dividing patients by sex or insurance type revealed no difference in suicidality ( P ≥0.05). CONCLUSION: Patients with CLP and craniofacial conditions have a high incidence of suicidal ideation and behavior, though levels are similar between these groups. Suicidality in these patients was not negatively impacted by the COVID-19 pandemic. Early identification of safety risks and psychosocial challenges through regular screening can facilitate connection with appropriate clinical interventions.

Psychosocial changes in patients submitted to orthodontic surgery treatment: a systematic review and meta-analysis.

OBJECTIVE: This systematic review aims to answer the following question: What is the psychological impact of orthognathic surgery on patients with dentofacial deformities undergoing orthodontic-surgical treatment? MATERIAL AND METHODS: The search was adapted for each of the following databases: American and Caribbean Center on Health Sciences (LILACS), Cochrane Library, Embase, Psychinfo, PubMed/Medline, Scopus and Web of Science, and gray literature using Google Scholar, OpenGrey, and ProQuest. The risk of bias was assessed using the Joanna Briggs Institute Critical Assessment Checklist. This study performed estimates of interest, random-effects meta-analyses, and calculated heterogeneity using Higgins inconsistency index (I2). RESULTS: A total of 6751 references were found in all searches. After applying the eligibility criteria after full-text reading, 37 studies comprised the final qualitative synthesis. Thirteen studies were included in quantitative synthesis, and it was possible to meta-analyze data from the following questionnaires: GHQ-28, MMPI, RSES, and SCL-90-R. There was an improvement in psychological aspects related to depression, hysteria, self-esteem, anxiety, obsessive-compulsiveness, interpersonal sensitivity, paranoid ideas, and psychoticism (p < 0.05). CONCLUSIONS: Correction of dentofacial deformity through orthodontic-surgical treatment is associated with improvements observed in several psychological domains, especially in relation to depressive states. CLINICAL RELEVANCE: This result highlights the importance of surgeons and orthodontists in promoting adequate control of patients' expectations and treatment goals taking into account the individual's psychological aspects.

Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.

Kleefstra syndrome, a disease with intellectual disability, autism spectrum disorders and other developmental defects is caused in humans by haploinsufficiency of EHMT1. Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown. Here, we found that the epigenome of Ehmt1+/- adult mouse brain displays a marked increase of H3K9me2/3 which correlates with impaired expression of protocadherins, master regulators of neuronal diversity. Increased H3K9me3 was present already at birth, indicating that aberrant methylation patterns are established during embryogenesis. Interestingly, we found that Ehmt2+/- mice do not present neither the marked increase of H3K9me2/3 nor the cognitive deficits found in Ehmt1+/- mice, indicating an evolutionary diversification of functions. Our finding of increased H3K9me3 in Ehmt1+/- mice is the first one supporting the notion that EHMT1 can quench the deposition of tri-methylation by other Histone methyltransferases, ultimately leading to impaired neurocognitive functioning. Our insights into the epigenetic pathophysiology of Kleefstra syndrome may offer guidance for future developments of therapeutic strategies for this disease.

Barriers to Accessing Medical Care for Hispanic Individuals With Craniofacial Conditions.

In the United States, having limited access to health care has been an ongoing concern that could cause detrimental effects for minority populations, specifically the Hispanic population. Numerous barriers to accessing health care were identified for both pediatric and adult Hispanic patients who were born with craniofacial conditions. Barriers that were determined to impact Hispanic patients with craniofacial conditions from receiving medical and health services included language and communication, patient-health care provider relationships, socioeconomic status and finances, insurance status, timely access to appointments, citizenship and immigration status, and lack of family and social support. Interventions for these barriers were also proposed to increase support for Hispanic patients. Lamentably, there is scant research that investigates how these barriers affect this special population, despite the limitations that they have in their ability to access health care. In addition, these barriers to treatment have dire consequences for individuals with craniofacial conditions. The findings and proposed interventions discussed in this review article provide measures to minimize these barriers and define ways to benefit Hispanic patients with craniofacial conditions.

Identifying Psychosocial Risk Factors Among Families of Children With Craniofacial Conditions: Validation of the Psychosocial Assessment Tool-Craniofacial Version.

OBJECTIVE: To evaluate the psychometric properties of the Psychosocial Assessment Tool-Craniofacial Version (PAT-CV), a screening instrument for psychosocial risk in families of children with craniofacial conditions, and to examine risk classification of patients in a craniofacial population. DESIGN: Prospective, cross-sectional, single-center study. SETTING: Interdisciplinary cleft lip and palate/craniofacial center at a US children's hospital. PARTICIPANTS: Parents/caregivers (n = 242) of 217 children ages 1 month to 17 years being treated for a congenital syndromic or nonsyndromic craniofacial condition completed the PAT-CV and validating measures from July 2015 to July 2016. The PAT-CV was completed by 121 caregivers a second time to assess test-retest reliability. MAIN OUTCOME MEASURES: PAT-CV, Child Behavior Checklist, Adult Self-Report, Pediatric Quality of Life Inventory, Craniofacial Experiences Questionnaire, and Family Environment Scale. RESULTS: Construct validity of the PAT-CV was supported by significant correlations ( P < .001) between PAT-CV total and subscale scores and the validated measures. PAT-CV total scores categorized 59.9% of families within the universal risk group, 32.3% within the targeted risk group, and 7.8% within the clinical range. Good criterion validity was indicated by significantly higher scores ( P < .0001) obtained on the validated measures for those in the targeted and clinical risk groups. Internal consistency (Cronbach's α = 0.86) and test-retest reliability for the PAT-CV total score ( r = 0.77, P < .0001) were acceptable. CONCLUSIONS: The PAT-CV appears to be a reliable and valid screening instrument for psychosocial risk. Accurate identification of risk and implementation of appropriate interventions may contribute to improvements in medical and psychosocial outcomes.

Body Image and Quality of Life in Adolescents With Craniofacial Conditions.

OBJECTIVE: To evaluate body image in adolescents with and without craniofacial conditions and to examine relationships between body image and quality of life. DESIGN: Case-control design. SETTING: A pediatric hospital's craniofacial center and primary care practices. PARTICIPANTS: Seventy adolescents with visible craniofacial conditions and a demographically matched sample of 42 adolescents without craniofacial conditions. MAIN OUTCOME MEASURE: Adolescents completed measures of quality of life and body image including satisfaction with weight, facial and overall appearance, investment in appearance (importance of appearance to self-worth), and body image disturbance (appearance-related distress and impairment in functioning). RESULTS: Adolescents with craniofacial conditions reported lower appearance investment (P < .001) and were more likely to report concerns about facial features (P < .02) compared with nonaffected youth. Females in both groups reported greater investment in appearance, greater body image disturbance, and lower weight satisfaction compared with males (P < .01). Within both groups, greater body image disturbance was associated with lower quality of life (P < .01). The two groups did not differ significantly on measures of quality of life, body image disturbance, or satisfaction with appearance. CONCLUSIONS: Body image and quality of life in adolescents with craniofacial conditions are similar to nonaffected youth. Relationships between body image and quality of life emphasize that appearance perceptions are important to adolescents' well-being regardless of whether they have a facial disfigurement. Investment in one's appearance may explain variations in body image satisfaction and serve as an intervention target, particularly for females.

A Qualitative Study of Children's Perspectives on Their Peer Relationships in the Context of Living With a Craniofacial Anomaly.

OBJECTIVE: To gain understanding of perspectives on peer relationships from children with congenital craniofacial anomalies (CFA). DESIGN: This was qualitative research based in a phenomenological approach, using narratives that captured children's responses to open-ended and objective questions about peer relations and life with a CFA. Interviews were audio recorded and transcribed. Transcripts were coded according to thematic categories. SETTING: Children were patients at a reconstructive plastic surgery center in an urban hospital and medical school and were recruited from a regional support organization for families of children with CFA that was associated with the hospital. PATIENTS, PARTICIPANTS: Nine children with congenital CFA aged 9 to 14 years. MAIN OUTCOME MEASURES: Thematic coding categories were developed from the narratives using an open coding strategy; these categories focused on aspects of children's interactions with peers and their appraisals of the role of their CFA in their lives. RESULTS: Children reported satisfaction with most aspects of their peer relationships and expressed confidence in their ability to manage challenges. They acknowledged some difficulties with living with a CFA but tended to hold a balanced perspective on the impact of a CFA on their lives, and they expressed optimism about their future lives. CONCLUSIONS: This sample of children with CFA exhibited much resilience. Although they may not be representative of all children with CFA, they provide examples that can be used to generate hypotheses for future research.

Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate.

BACKGROUND: The approach to clinical evaluation of the dysmorphic neonate can be challenging and multifaceted. It requires specialized knowledge of rare diagnoses and awareness of immediate versus long-term needs for the newborn and the family. PURPOSE: This review summarizes important considerations in the initial evaluation of genetic syndromes, which can present in the neonatal period with variable aspects of dysmorphism. METHODS: An overview of the literature in this area is provided. FINDINGS/RESULTS: Several overlapping areas of concern for working with this population are addressed, including communication with the family, fundamentals of the physical examination, common genetic disorders, syndromes, as well as palliative care and end of life decision making for the newborn in the context of family needs. IMPLICATIONS FOR PRACTICE: The initial approach for the neonatal practitioner needs to focus on various aspects of the newborn's care, including medical stabilization, determining whether immediate laboratory or imaging studies are needed, careful physical examination with particular attention to detail, appropriate and timely communication with the family, and knowledge of various specific aspects of rare diseases. IMPLICATIONS FOR RESEARCH: More research is needed to better understand how to best support the newborn born with dysmorphia or a rare disease. Particular attention needs to be focused on strategies to best support the family who is often in crisis during the neonatal period.

Shared Surgical Decision Making and Youth Resilience Correlates of Satisfaction With Clinical Outcomes.

The aim of this study was to identify factors associated with youth satisfaction with surgical procedures performed to address oral cleft or craniofacial conditions (CFCs). It was hypothesized that youth mental health, participation in decision making, perceived consequences of living with a CFC, and coping strategies would be associated with satisfaction with past surgeries. A total of 203 youth between the ages of 11 and 18 years (mean age = 14.5, standard deviation = 2.0, 61% male participants, 78% oral cleft) completed a series of questionnaires measuring depression, self-esteem, participation in decision making, condition severity, negative and positive consequences of having a CFC, coping, and satisfaction with past surgeries. Multiple regression analysis using boot-strapping techniques found that youth participation in decision making, youth perception of positive consequences of having a CFC, and coping accounted for 32% of the variance in satisfaction with past surgeries (P < 0.001). Youth age, sex, and assessment of condition severity were not significantly associated with satisfaction with surgical outcome. Depression, self-esteem, and negative consequences of having a CFC were not associated with satisfaction with past surgeries. Youth should be actively involved in the decision for craniofacial surgery. Youth who were more satisfied with their surgical outcomes also viewed themselves as having gained from the experience of living with a CFC. They felt that having a CFC made them stronger people and they believed that they were more accepting of others and more in touch with others' feelings because of what they had been through.

Evaluation of the similarities and differences in response patterns to the Pediatric Quality of Life Inventory and the Child Oral Health Impact Scores among youth with cleft.

PURPOSE: To examine (a) the pattern of responses to a generic health-related quality of life (HRQL) measure (Pediatric Quality of Life Inventory--PedsQL) and an oral health-related quality of life (OHRQoL) measure (Child Oral Health Impact Profile--COHIP), and (b) the associations of these scores with surgical recommendation status among youth with cleft. METHODS: Cross-sectional data (baseline) regarding clinicians' surgical recommendations and quality of life (QoL) measures were examined from an ongoing observational study on treatment outcomes. Approximately one-third of the racially and geographically diverse sample (N = 1,200; mean = 11.6 years) received surgical recommendations to correct either visible (aesthetic) or invisible (functional) defects. Effect sizes were used to quantify differences in QoL based on surgical recommendation and to compare the sensitivity of the PedsQL and COHIP subscales. Using Pearson coefficients, the scores of those recommended for surgery were compared with those without a surgical recommendation. RESULTS: A moderate correlation (0.52) was found between the total scores on the PedsQL and COHIP (p < 0.0001). Subscale correlations between the QoL measures ranged from 0.19 to 0.48 with the strongest correlation between the PedsQL Emotional (r = 0.47) and COHIP Socioemotional Well-being subscale. The effect size for the COHIP Socioemotional Well-being (0.39) was larger than the PedsQL Social/Emotional (0.07/0.11) subscale (Z = 5.30/Z = 4.64, p < 0.0001, respectively), and the total COHIP (0.31) was significantly greater than the total PedsQL scale (0.15, z = 2.65, p = 0.008). CONCLUSIONS: A significant relationship was found between generic HRQL, OHRQoL, and surgical needs among youth with cleft with the COHIP having larger effect sizes than the PedsQL among surgical groups.

Discrimination among adults with craniofacial conditions.

The primary goal of this study was to establish the level of perceived discrimination experienced by adults with congenital craniofacial conditions in Australia and to examine predictors of discrimination. Specifically, this study tested whether social support mediates the relationship between discrimination and health. Adults (n = 93) who had been treated at the Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide for congenital craniofacial conditions (not including cleft lip and/or palate) completed questionnaires examining satisfaction with life, quality of life, anxiety and depression, self-esteem, satisfaction with social support, and satisfaction with appearance. A substantial minority of adults with congenital craniofacial conditions reported that they experience discrimination almost every day in a range of areas. Higher reports of discrimination were related to older age, being male, and less education. Other factors related to higher discrimination included lower levels of satisfaction with life, self-esteem, satisfaction with appearance and mental quality of life, as well as higher levels of anxiety and depression. Social support partially mediated the relationship between discrimination and mental health outcomes. The current study shows that discrimination experiences continue into adulthood confirming the importance of ensuring patients are well supported both by psychosocial services as well as within their own social support networks.

Social Interactions of School-Aged Children With CFA: Mothers' Perspectives and Advice.

Objective : To learn about (1) mothers' perspectives on their children's social experiences and (2) how mothers interpret social situations and provide guidance to their children in challenging situations. Design : This was a qualitative study analyzing narratives. Mothers participated in a semistructured interview; mothers and their children participated in a social coaching task involving responses to hypothetical situations. Transcripts of audio recordings were used to create thematic coding categories, and transcripts were reviewed and coded. Setting : Children were patients at a reconstructive plastic surgery center in an urban hospital and medical school; families were recruited from a regional support group associated with the hospital. Participants : Mothers of nine children with congenital craniofacial anomalies, aged 9 to 14 years. Main Outcome Measures : Thematic narrative coding categories, focusing on mothers' perspectives on children's actual social experiences (from the interview) and mothers' advice and interpretations regarding challenging hypothetical social tasks (from the coaching task). Results : In the interviews, mothers reported positive and negative social experiences for their children. Multiple approaches were used by mothers to interpret social interactions experienced by children (interview) and hypothetical social situations (coaching task). These included consideration of situational factors, motivations of others, and factors within own child. Mothers' hypothetical advice was often prosocial, including concrete strategies to resolve conflict, to plan ways to avoid problems, to foster self-reliance, and to avoid hurtful situations. Conclusions : Mothers showed active interest and concern in their children's peer relationships and were thoughtful in devising strategies to successfully manage potential social challenges.

International confederation for cleft lip and palate and related craniofacial anomalies task force report: holistic outcomes.

Objective : This paper describes the process and outcomes of the 2013 American Cleft Palate-Craniofacial Association task force on Holistic Outcomes. The goals and membership of the task force are presented. Methods : Using internet communication, the group introduced themselves, shared ideas and information related to holistic assessment and implementation of using a validated holistic measure, the Child Oral Health Impact Profile (COHIP) at participating international sites. Results : Data from the sites were analyzed using descriptive statistics. Administration of the COHIP was successful. It varied from self-completion as well as verbal presentation due to language differences and a function of the short time period to complete collection. Additionally qualitative comments were reported by the task force site directors. Conclusions : Future directions for holistic assessment and communication among task force members and sites were discussed at the Congress and are presented in this report.

The impact of a parent liaison at a major craniofacial center.

The psychosocial impact of craniofacial disfigurement affects both the developing child and his/her family. The Facial Reconstruction Center at the Children's Hospital of Philadelphia has employed a Parent Liaison (PL) to provide psychosocial support to families and has been an invaluable resource in this regard. We hypothesize that a PL impacts the overall outcome of the surgery by building trust between the parents and medical institution, and increasing satisfaction. An anonymous satisfaction survey was sent to families of craniofacial patients treated between January 1976 and June 2012. All patients who had undergone at least 1 craniofacial procedure had addresses on file and were included in this study. Statistical analyses were performed using the Mann-Whitney U test.During the study, 441 surveys were mailed to families meeting the inclusion criteria. A total of 151 families returned completed surveys (34.2%), and 121 surveys were included for analysis (27.4%). In rating overall satisfaction, families who met with the PL had statistically higher scores than those who had not (P = 0.0011). Parents who met with the PL preoperatively reported greater satisfaction in time spent answering questions (P = 0.0029) and the perception that questions were adequately answered (P = 0.0039). No statistical difference was observed in postoperative preparedness between families that did and did not meet the PL. The results demonstrate that the PL is beneficial in the education, experience, and satisfaction of families treated at a large Craniofacial Center. The PL complements the surgeon's treatment of the physical by adding psychosocial support.

Psycho-social reflections on craniofacial morphogenesis.

Psychologists are now increasingly involved in understanding the challenges faced by people who experience facial disfigurements from many causes (congenital, traumatic, oncological, iatrogenic, neurological, ophthalmological or dermatological). This article describes how the author has combined the lessons of his personal recovery after severe facial burns with the rigorous science of psychological research to enable improved psycho-social support and interventions to be developed, through a UK not-for-profit (Changing Faces) and in formal health care services. It suggests that against the background of a culture that is less-than-positive about disfigurement, anyone who experiences it needs access to a range of support, advice, counselling and social skills training to enable them to live full, confident lives.

Overgrowth syndromes.

PURPOSE OF REVIEW: Human growth ensues from a complex interplay of physiological factors, in the wider setting of varying genetic traits and environmental influences. Intensive research in these divergent areas, and particularly in the field of genetics, continues to clarify the molecular basis of disorders which result in overgrowth, and it is therefore timely to provide a review of these findings. RECENT FINDINGS: This article provides an overview of the factors which regulate growth, followed by a discussion of the more commonly encountered overgrowth syndromes and their genetic basis as it is understood at the current time. There is also an added focus on recently discovered genetic associations in some conditions, such as Weaver, Perlman and Proteus syndromes. SUMMARY: New discoveries continue to be made regarding the genetic basis for many overgrowth syndromes and the development of a much needed molecular classification system for overgrowth may become possible as the interlinking functions of these genes on growth are unravelled. As there exists a wide spectrum of syndromes, disorders resulting in overgrowth can represent a diagnostic and therapeutic challenge, from those causing prenatal overgrowth with a poor prognosis to less severe genetic aberrations which are identified in later childhood or adult life.

Self-concept in youth with congenital facial differences: development and recommendations for medical providers.

Congenital facial differences may impact a child's self-perception, activities and valuation, and what has been termed their "self-concept." This article reviews what constitutes self-concept, and its development during childhood and adolescence. The literature examining the role of physical appearance, specifically congenital facial differences on individuals' perceptions of self are reviewed in the context of psychosocial development. Positive self-concept can impact healthy behaviors, positive interactions with peers, and academic achievement. The role of mental health professionals in evaluating self-concept and objective measures of self-concept are discussed, and recommendations are made to assist medical practitioners regarding monitoring and encouragement of positive self-concept in children with congenital facial differences.

Evaluation of the effectiveness of Face IT, a computer-based psychosocial intervention for disfigurement-related distress.

Some people who have a visible difference (disfigurement) experience psychosocial adjustment problems that can lead to social anxiety and isolation. The aim of this study was to assess the effectiveness of a new computerised CBT-based intervention (Face IT) in reducing anxiety and appearance-related distress for individuals with visible differences. Face IT was tested against a non-intervention control group and standard CBT-based face-to-face delivery. Eighty-three participants were assessed at four time points using the Hospital Anxiety and Depression Scales, Derriford Appearance Scale-24, Body Image Quality of Life Inventory and Fear of Negative Evaluation (FNE). The findings indicate a significant reduction in anxiety and appearance-related distress in both the Face IT intervention and the face-to-face condition. Similar findings were reported for depressive symptoms and FNE. Results at the three and six months follow-up demonstrate increased improvements in psychological functioning with both interventions. This new online psychosocial intervention has been found to be effective at reducing anxiety, depression and appearance concerns amongst individuals with disfigurements, whilst increasing positive adjustment. A remote-access, computer-based intervention offers the potential to provide psychosocial support more easily and in a cost-effective manner to adults with appearance-related distress.

Psychosocial functioning in adults with congenital craniofacial conditions.

OBJECTIVE: To examine the psychosocial functioning of adults with congenital craniofacial conditions relative to normative data. DESIGN: Single sample cross-sectional design. SETTING: The Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, which is one of the main craniofacial treatment centers in Australia. PARTICIPANTS: Adults (N  =  93) with congenital craniofacial conditions (excluding cleft lip/palate) who were treated in the Australian Craniofacial Unit. MAIN OUTCOME MEASURES: All participants completed self-report scales assessing health-related quality of life (SF-36); life satisfaction, anxiety, and depression (HADS); self-esteem (Rosenberg); appearance-related concerns; perceived social support; and social anxiety. RESULTS: Overall, participants were very similar in psychosocial function to the general population. However, adults with craniofacial conditions were less likely to be married and have children (females), were more likely to be receiving a disability pension, and reported more appearance-related concerns and less social support from friends. They also reported more limitations in both their social activities, due to physical or emotional problems, and usual role activities, because of emotional problems, as well as poorer mental health. CONCLUSIONS: These results give cause to be very positive about the long-term outcomes of children who are undergoing treatment for craniofacial conditions, while also identifying specific areas that interventions could target.

Guidelines and recommendations for studies on psychosocial aspects of patients with craniofacial anomalies.

In recent years there has been a few numbers of studies on psychosocial aspects of patients with craniofacial anomalies in the world. Current research surrounding psychological aspects of craniofacial anomalies suffers from various inconsistencies as reported by the results which may be due to differences in methodology that has made interpretation of findings very difficult. This article aims to present an evaluation of methodological errors and inconsistent findings in such studies. A thorough search based on electronic data base was done utilizing the following words: "craniofacial anomalies", "psychosocial impact". The resultant studies were evaluated based on the methodology and various lacunae, pitfalls were summed up. The results indicated that most of the studies suffer from various methodological errors. Several guidelines were fabricated so as to minimize error and maximize accuracy. The authors recommend these guidelines for future research design of studies related to psychosocial aspects of patients with craniofacial anomalies.