Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals? / Traz a deformidade de orelha impacto negativo na qualidadede vida em indivíduos com síndrome de Treacher Collins?

Treacher Collins syndrome (TCS) is an autosomal dominant disorder with variable expression in which the ear may or may not be absent or with a malformation. Individuals with TCS suffer social stigma that may affect interaction with their peers. Quality of life instruments obtained through self-perception questionnaires are stigma identification tools and can enable social adjustment of these individuals. This study aims to assess the quality of life of individuals with TCS and to gauge the impacts of ear deformity on the quality of life. Twelve volunteers with a clinical and genetic diagnosis of TCS answered the WHO quality of life questionnaire and were divided into groups with normal ears (n = 6) versus affected ears (n = 6), and their results were compared. Siviero's scale was used to stratify the quality of life scores as satisfactory, intermediate and unsatisfactory. The overall score of the normal ears group was 73.13 and 71.81 for the affected ears group, and both were classified as an intermediate quality of life, with no statistically significant differences between them. Ear deformity is not a burden to the quality of life of these individuals, who already show other deformities and overall intermediate quality of life scores.

A Síndrome de Treacher Collins (STC) é uma síndrome craniofacial de padrão autossômico dominante e expressão clínica variada, em que a orelha pode ou não estar ausente ou malformada. Indivíduos com STC sofrem estigmas podendo repercutir na interação com pares. Instrumentos de qualidade de vida obtidos por meio de questionários de autopercepção são ferramentas de identificação de estigmas e podem permitir o ajuste social desses indivíduos. Objetiva-se avaliar e mensurar a qualidade de vida em indivíduos com STC, aferindo os impactos da deformidade de orelhas na qualidade de vida. Doze voluntários com diagnóstico clínico e genético de STC responderam ao questionário de qualidade de vida da OMS, divididos em grupos com orelhas normais (n = 6) versus orelhas afetadas (n = 6) e seus resultados foram comparados. A escala de Siviero foi usada para estratificar a qualidade de vida em satisfatória, intermediária e insatisfatória. A pontuação geral do grupo com orelhas normais foi de 73,13; a do grupo com orelhas afetadas de 71,81, ambos classificados como níveis intermediários de qualidade de vida e sem diferença significativa entre si. A deformidade de orelha não representa um ônus na qualidade de vida dos indivíduos que já se apresentam com outras deformidades e com escores de qualidade de vida intermediários.

Traz a deformidade de orelha impacto negativo na qualidadede vida em indivíduos com síndrome de Treacher Collins? / Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals?

Resumo A Síndrome de Treacher Collins (STC) é uma síndrome craniofacial de padrão autossômico dominante e expressão clínica variada, em que a orelha pode ou não estar ausente ou malformada. Indivíduos com STC sofrem estigmas podendo repercutir na interação com pares. Instrumentos de qualidade de vida obtidos por meio de questionários de autopercepção são ferramentas de identificação de estigmas e podem permitir o ajuste social desses indivíduos. Objetiva-se avaliar e mensurar a qualidade de vida em indivíduos com STC, aferindo os impactos da deformidade de orelhas na qualidade de vida. Doze voluntários com diagnóstico clínico e genético de STC responderam ao questionário de qualidade de vida da OMS, divididos em grupos com orelhas normais (n = 6) versus orelhas afetadas (n = 6) e seus resultados foram comparados. A escala de Siviero foi usada para estratificar a qualidade de vida em satisfatória, intermediária e insatisfatória. A pontuação geral do grupo com orelhas normais foi de 73,13; a do grupo com orelhas afetadas de 71,81, ambos classificados como níveis intermediários de qualidade de vida e sem diferença significativa entre si. A deformidade de orelha não representa um ônus na qualidade de vida dos indivíduos que já se apresentam com outras deformidades e com escores de qualidade de vida intermediários.

Abstract Treacher Collins syndrome (TCS) is an autosomal dominant disorder with variable expression in which the ear may or may not be absent or with a malformation. Individuals with TCS suffer social stigma that may affect interaction with their peers. Quality of life instruments obtained through self-perception questionnaires are stigma identification tools and can enable social adjustment of these individuals. This study aims to assess the quality of life of individuals with TCS and to gauge the impacts of ear deformity on the quality of life. Twelve volunteers with a clinical and genetic diagnosis of TCS answered the WHO quality of life questionnaire and were divided into groups with normal ears (n = 6) versus affected ears (n = 6), and their results were compared. Siviero's scale was used to stratify the quality of life scores as satisfactory, intermediate and unsatisfactory. The overall score of the normal ears group was 73.13 and 71.81 for the affected ears group, and both were classified as an intermediate quality of life, with no statistically significant differences between them. Ear deformity is not a burden to the quality of life of these individuals, who already show other deformities and overall intermediate quality of life scores.

Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study.

PURPOSE: The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial conditions. Therefore, the aims of this study were to examine and compare these factors among three groups of adults affected by Treacher Collins syndrome (TCS), cherubism, and oligodontia/ectodermal dysplasia (ED). METHODS: We included 11 individuals with TCS (mean age 46.9, SD 12.9 years), 15 with cherubism (mean age 50.3, SD 16.8 years), and 49 with oligodontia/ED (mean age 30.7, SD 15.6 years). The respondents completed questionnaires related to psychological distress and quality of life. RESULTS: The oligodontia/ED group had a significantly higher level of anxiety and worse mental health-related quality of life than both the TCS and cherubism groups. Adults with TCS reported the highest level of depression, and the lowest levels of overall quality of life, well-being, and physical health-related quality of life. The cherubism group displayed the best overall quality of life, well-being, and mental health. CONCLUSIONS: Psychological distress and quality of life differed in various orofacial conditions. This study provided insight into these aspects that may contribute to improved care.

Optimizing the timing and technique of Treacher Collins orbital malar reconstruction.

The optimal timing and treatment of Treacher Collins syndrome with regard to zygomatico-orbital osseous reconstruction has not been fully established. Osseous reconstruction performed at an early age may result in bone graft resorption; however, delays in surgical improvement may result in adverse psychosocial effects on the patient. To study the optimal age for reconstruction clinically, we examined 3 age groups based on timing of malar and eyelid reconstruction using a three-dimensional computed tomographic scan and three-dimensional photometric volume assessment. In addition, we collected outcome assessments from parents/patients using satisfaction surveys. Of 73 patients with Treacher Collins at the University of California Los Angeles Craniofacial Clinic, 45 had malar reconstruction, complete records, and were available for study. The patients were separated into 3 groups: (1) very young = 0 to 5 years, (2) mid-childhood = 6 to 12 years, and (3) adolescent/adult 13 years and older. As hypothesized, the 0 to 5 age group experienced the greatest percentage of complete bony resorption (77%) compared with the 6 to 12 age group (only 4%) and the 13 and older age group (0%). Interestingly, the 0 to 5 age group experienced the highest parent/patient satisfaction, possibly owing to better psychosocial experience. When dealing with treatment plans for patients with Treacher Collins, patients, parents, and physicians must balance the benefits of early surgical intervention, such as improved psychologic well-being, with the disadvantages of having to undergo a greater number of procedures, such as fat grafting after malar bone graft resorption.

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families.

Treacher Collins syndrome (TCS) is a craniofacial syndrome that is both phenotypically variable and heterogeneous, caused by mutations in the TCOF1, POLR1C, and POLR1D genes. We examined attitudes towards TCS prenatal genetic testing among affected families using a telephone questionnaire. Participants were 31 affected adults and relatives recruited primarily through families cared for in the mid-Atlantic region. Nineteen participants (65%) reported that they would take a TCS prenatal genetic test which could not predict degree of disease severity. Interest in TCS genetic testing was associated with higher income, higher concern about having a child with TCS, lower religiosity, lower concern about genetic testing procedures, and having a sporadic rather than familial mutation. Over half reported that their decision to have TCS genetic testing would be influenced a great deal by their desire to relieve anxiety and attitudes toward abortion. Ten participants (32%) reported that they would be likely to end the pregnancy upon receiving a positive test result; this was lower amongst TCS affected individuals and higher amongst participants with children with TCS. Genetics healthcare providers need to be aware of affected individuals' and families' attitudes and interest in prenatal genetic testing for TCS, and the possible implications for other craniofacial disorders, so that patients' information needs can be met.

Assessing nonacceptance of the facial appearance in adult patients after complete treatment of their rare facial cleft.

BACKGROUND: Treatment of patients with severe congenital facial disfigurements is aimed at restoring an aesthetic and functional balance. Besides an adequate level of satisfaction, an individual's acceptance of facial appearance is important to achieve because nonacceptance is thought to lead to daily psychological struggles. This study objectified the prevalence of nonacceptance among adult patients treated for their severe facial clefts, evaluated risk factors, and developed a screening tool. METHODS: The study included 59 adults with completed treatment for their severe facial cleft. All the patients underwent a semistructured in-depth interview and filled out the Body Cathexis Scale. RESULTS: Nonacceptance of facial appearance was experienced by 44% of the patients. Of the nonaccepting patients, 72% experienced difficulties in everyday activities related to their appearance versus 35% of the accepting patients. Acceptance did not correlate with objective severity or bullying in the past. Risk factors for nonacceptance were high self-perceived visibility, a troublesome puberty period, and an emotion-focused coping strategy. Also, the presence of functional problems was shown to be highly associated. CONCLUSIONS: The objective severity of the residual deformity did not correlate with the patients' acceptance of their facial appearance, but the self-perceived visibility did correlate. The process of nonacceptance resembles the process seen in patients with body dysmorphic disorders. Surgical treatment is no guarantee for an improvement in acceptance and is therefore discouraged for patients who match the risk factors for nonacceptance unless it solves a functional problem. The authors therefore recommend screening patients for nonacceptance and considering psychological treatment before surgery is performed. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors at www.springer.com/00266.

Oral health-related quality of life of children with craniofacial conditions.

OBJECTIVE: Evaluation of the Dutch Child Oral Health Impact Profile (COHIP), assessing the level of concordance between parents and children. The internal consistency and the predictive validity of the COHIP for self-reported general health were examined. METHODS: Sample size was 35 pairs of parents and children age 11 to 14 with craniofacial conditions. Cronbach alphas were calculated and the level of concordance between parents and children was studied using t tests and intraclass correlations. Predictive validity was assessed using Pearson correlations and linear regression analyses. RESULTS: The COHIP and its subscales, except for one, had satisfactory to high Cronbach alphas (.59 to .94). Parents and children did not differ significantly. Correlations between parents and children were high (.62 to .91). Only "Oral symptoms" proved to be a significant predictor of general health, but only in the parent sample. CONCLUSIONS: In spite of the high level of concordance found, proxy reports have to be considered complementary to the reports of the children themselves. The Dutch version of the COHIP performs adequately, but could use some further psychometric evaluation and revision. It does not seem advisable to use the subscales separately as predictors in the same regression model, since they are strongly intercorrelated. For use in craniofacial patients, further validation is needed on a larger sample and some items need to be revised or removed. Finally, given the small number of cases, conclusions must be drawn with caution.

Adolescents' perspectives on living and growing up with Treacher Collins syndrome: a qualitative study.

OBJECTIVE: This study explored the experiences and essences of growing up and living with Treacher Collins syndrome (TCS) from an adolescent perspective. DESIGN: A qualitative approach using the long interview method was used to explore the adolescents' experiences. Semistructured interviews and peer debriefing techniques were used to gather and verify data with each participant. PARTICIPANTS: A purposive sampling technique was used to recruit a sample of six adolescents with TCS, ranging in age from 12 to 18 years, who received care from a craniofacial center in a large pediatric hospital. RESULTS: The themes central to the adolescents' experiences were balancing sameness and difference and the journey toward social and self-acceptance. Five subthemes further described this experience: reconstructing perceptions of others; making meaning of the difference; forming friendships and fitting in; handling staring and teasing; and excelling. CONCLUSIONS: The study group described good psychosocial adjustment, experienced an increasing acceptance of self, TCS, and social acceptance over time and demonstrated resilient adaptive strategies (optimism, motivation, and positive meaning making). They were, however, also challenged by the social stigma associated with difference and by the challenges of finding a good fit in their school environments in meeting unique needs, particularly in their early grades. This study highlights the value of using a qualitative research approach in furthering our understanding of the experiences of children and youth with facial differences.

Use of extinction and reinforcement to increase food consumption and reduce expulsion.

Extinction and reinforcement contingencies were used to treat 2 children with feeding disorders. Positive reinforcement and avoidance extinction effectively increased food acceptance but also increased food expulsion. Reduced expulsion and increased swallowing were achieved by repeated presentation of expelled food, a second extinction component

The psychosocial adjustment of pediatric craniofacial patients after surgery.

The postsurgical psychological status of 25 craniofacial patients, 6 through 16 years of age, was studied using self, teacher, and parent report measures. In contrast to earlier reports of more positive adjustment following corrective surgery, the present study identified several concerns for craniofacial patients, including low self-esteem, impaired peer relationships, and greater dependency on significant adults. Problems were more clearly identified using projective techniques rather than self-report measures. The findings suggest that many children having craniofacial surgery should have supportive psychotherapeutic services. Variables were explored relative to psychosocial functioning. Although few significant correlations were demonstrated, positive psychological adjustment was found to be related to greater physical attractiveness, lower parental stress, and younger age.

Psychosocial adjustment of 20 patients with Treacher Collins syndrome before and after reconstructive surgery.

Eight males and 12 females (mean age, 12.2 years) with Treacher Collins syndrome were studied longitudinally before and after craniofacial reconstruction. The patients and the parents of the 16 patients who were children were interviewed by a psychosocial team (child psychiatrist, psychologist and social worker) 6 months before and 1, 2, 3 and 4 years after surgery. The patients' facial appearance (Hay's Rating Scale), intellectual ability (Wechsler scales), self-esteem (Piers-Harris Self-Concept Scale for Children) and adaptive functioning (DSM III) were measured. The findings indicate that while their intellectual ability was unchanged, their appearance, self-esteem and adaptive functioning improved, peaking 1 year postoperatively and levelling off at the 2- and 4-year postoperative assessments. The improvement in the patients' facial appearance seems to have a direct, positive influence, creating psychosocial and social benefits for them.