Assessment of long-term quality of life in patients with syndromic craniosynostosis.

Several studies have analyzed the long-term stability of cranioplasty and midface distraction in patients with craniosynostosis; however, few studies have investigated long-term quality of life (QOL) and complications in adults with syndromic craniosynostosis. This study aimed to investigate the QOL (social, physical, and psychosocial) of patients with adult syndromic craniosynostosis. Patients aged ≥20 years with syndromic craniosynostosis, who were surgically treated at a single craniofacial institution, were included in this study. We investigated everyday inconvenience (using the World Health Organization Disability Assessment Schedule questionnaire), any ongoing treatment, marital status, and number of children. Totally, 18 patients aged 22-48 years (mean: 31.4 ±â€¯9.2 years) answered the questionnaire (Crouzon syndrome, 9; Apert syndrome, 5; Pfeiffer syndrome, 4). Of these, only one Crouzon syndrome patient was married; she was also the only one with a child. Apert syndrome patients were found to have difficulty in understanding, communication, and self-care because of their mental retardation and hand and foot handicaps; however, their participation in society was the most aggressive. In contrast, Crouzon syndrome patients had especially poor participation in society. In all patients, any ongoing hospital treatment was due to ophthalmological conditions. Crouzon syndrome patients have extremely poor QOL; the absence of mental retardation and hand and foot handicaps forces them to live in mainstream society, for which they are emotionally ill-equipped. It is necessary to treat these patients without any residual deformity to provide psychological support and to create an accepting society.

Epidemiology, prevention, diagnosis, treatment, and outcomes for psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions: a systematic review protocol of qualitative data.

BACKGROUND: Physical attractiveness or unattractiveness wields a tremendous impact on the social and psychological components of life. Many individuals with facial deformities are treated more negatively than normal individuals, which may affect their self-image, quality of life, self-esteem, interpersonal encounters, and ultimately, success in life. Malformations that do not create physiological problems and whose major health impact is to degrade physical attractiveness and engender psychosocial consequences are insufficiently understood and not considered functional problems by medical insurance companies. METHODS/DESIGN: As part of a clinical practice guideline development process for psychosocial concerns in Freeman-Burian syndrome, manuscripts describing psychosocial considerations related to the presence of non-intellectually impairing craniofacial malformation conditions or associated clinical activities are sought, especially focusing on epidemiology, prevention, symptoms, diagnoses, severity, timing, treatment, consequences, and outcomes. All published papers on this topic are considered in searching PubMed, OVID MEDLINE, and CINAHL Complete and again before final analyses. The results will be written descriptively to be practically useful and structured around the type or timing of psychosocial problems or consequences described or target population characteristics. No meta-analysis is planned. DISCUSSION: Because the quality of research on psychosocial problems in craniofacial malformation conditions is known to be fraught with methodological problems, inconsistencies, and considerable knowledge gaps, we anticipate difficulties, which may limit the review questions able to be answered. We hope to produce a survey relevant to all non-intellectually impaired craniofacially deformed patients and their families and outline knowledge gaps and prioritise areas for clinical investigation. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42018093021: UNIVERSAL TRIAL NUMBER: U1111-1211-8153.

Using Photovoice to Explore Quality of Life Factors of Adults With Crouzon Syndrome.

In the United States, one in 60,000 adults live with Crouzon Syndrome (CS) and facial malformations. Phenomenological studies about their lived experiences and quality of life are lacking. The purpose of this participatory action research study was to gain a richer understanding of the perceived biopsychosocial and socioecological factors that impact quality of life for adults living with CS using Photovoice. Another aim was to develop a conceptual framework of quality of life for those experiencing CS to enhance tailored health education and services. A purposeful sample of nine adults with CS were recruited from U.S. national surgery centers and support groups. Participants used photography to represent their experiences and participated in individual interviews and focus groups. Data were analyzed with the participants using thematic analysis, and 44 themes emerged which informed the development of a quality of life conceptual framework and action plan described in this article.

Internal Distraction Resulted in Improved Patient-Reported Outcomes for Midface Hypoplasia.

BACKGROUND: Both internal and external distraction devices have been used successfully in correcting midface hypoplasia. Although the indication for surgery and the osteotomy techniques may be similar, deciding when to use internal versus external devices has not been studied. The authors studied patient-reported outcomes with FACE-Q and functional surveys for internal and external devices for midface distraction patients. METHODS: Patients who underwent distraction advancement after Le Fort I and Le Fort III were surveyed using the FACE-Q survey and a functional survey. Equal groups of internal and external device patients were compared (n = 64). Data recorded included: sex, age, follow-up, diagnosis, operating room time, expected blood loss, length of stay, distraction length, consolidation time, and complications. RESULTS: Internal and external device groups were similar with regards to patient diagnosis, operative time, expected blood loss, distraction length but consolidation times differed (internal = 3.6 versus external = 1.1 months). For FACE-Q appearance appraisal, there were similarities in domain and scale. For the functional survey (airway/breathing, ocular/vision, occlusion/eating, speech/articulation), there was also similar scoring. However, internal device patients had superior FACE-Q scores for Quality of Life: Social Function (80.9 versus 68.9), Early Life Impact (92.9 versus 62.4), Dental Anxiety (70.2 versus 48.3), Psychological Well-being (87.8 versus 68.6); and Decision Satisfaction (81.2 versus 56.9) and Outcome Satisfaction (91.0 versus 84.7). CONCLUSIONS: Internal and external midface distraction patients had similar patient-reported outcomes for appearance and functional improvement; however, internal device patients were more satisfied with their quality of life and their decision to undergo the procedure.

Psychosocial conditions in adults with Crouzon syndrome: a follow-up study of 31 Swedish patients.

Crouzon syndrome presents with craniosynostosis, maxillary hypoplasia, exophtalmus, and sometimes hampered neuropsychological development. The aim of the present study was to evaluate the quality of life for adult patients with Crouzon syndrome. Forty patients with Crouzon syndrome born before 1990 could be identified. A questionnaire addressing education, employment, social relations, and quality-of-life was used. A matched control group was created for comparison. Logistic regression, correcting for the influence of age and sex, was used to compare patients and controls. Thirty-one patients and 285 controls answered the questionnaire. The level of education was lower in patients than in controls (p < 0.015). Patients were less often married or had a partner (p = 0.059), had fewer children of their own (p = 0.004), and had less experience of a sexual relationship (p < 0.001). The difference in housing was not significant, and only one patient lived in a care centre and three patients required a personal assistant to manage activities of daily living. The patients' estimation of their somatic health was equal to that of the controls, but the patients more often used anti-epileptic medication (p = 0.003). Periods of depressive mood were more common in patients (p = 0.001), but there was no difference between the groups regarding a general positive attitude to life. In conclusion, patients with Crouzon syndrome often have intellectual and social shortcomings that negatively affect their lives. However, the range of abilities is wide in this group.

Family-centred care during midface advancement with a rigid external device: what do families need?

Midface advancement with distraction osteogenesis using the rigid external device (RED) is an effective but invasive treatment to correct the hypoplastic midface. This study draws up an inventory of the stressors, needs and coping strategies of families during this treatment, to determine the best conditions for family-centred care. Data were collected by reviewing the patients' files and administering semi-structured interviews. The data were analysed using the software program Atlas.ti and were re-analysed by an independent researcher. Parents and patients were interviewed separately. Fourteen families participated. Four patients had an absolute indication for surgery. All families were eager to have the patient's facial appearance improved. Nevertheless, despite psychological counselling, they experienced stress when confronted with the changed facial appearance. Another stressor was weight loss. Six patients were in a state of acute malnutrition and needed supplementary feeding. We conclude that the best conditions for family-centred care should be aligned to the different phases of treatment. Leading up to surgery it is important to screen families' expectations regarding aesthetic, functional and social outcomes and to assess their capacity to cope with the long treatment and effects of changed facial appearance. Peer contact and psychosocial training to increase self-esteem are tools to enhance co-operation and satisfaction. During the distraction and stabilisation phase, we advise the monitoring of nutritional intake and weight. During all phases of treatment easy accessibility to the team is recommended.

Freeman-Sheldon syndrome: combined surgical and non-surgical approach.

BACKGROUND: Many Freeman-Sheldon syndrome patients suffer from extensive microstomia resulting in possible inhibition of dental and skeletal development as well as difficulties in eating, speech and dental hygiene. Oral commissure contraction treatments vary from patient education to complicated surgical and/or prosthetic treatments, but recurrence is often described. This article reports on a combined surgical and non-surgical approach in order to increase maximum mouth opening and maintain the result of the surgery. TECHNIQUE: The patient underwent bilateral commissuroplasty using 2 rhomboid flaps for each side. After two steps of intraoral and perioral tissue impression taking, a master cast was poured and a retractor was fabricated from thermoplastic material. The patient was encouraged to wear the retractor the entire day and night except at meal times. RESULTS: After surgery maximum mouth opening was increased from 20 mm to 37 mm and remained the same six months after the surgery. Psychosocial factors were improved and the patient was satisfied with the results of her treatment. CONCLUSION: The use of bilateral commissuroplasty in combination with this customized dynamic oral commissure retractor may be applicable in other syndromic patients with a small oral commissure and also in patients with circumoral burns.

Crouzon syndrome: a social stigma.

Crouzon syndrome is a rare genetic disorder caused due to genetic mutations. It is characterised by partial hearing loss, dry eyes, strabismus and underdevelopment of the upper jaw with facial deformities and malocclusion. These facial deformities greatly affect the social and emotional development of the affected child. The present case report highlights the social problems faced by a child suffering with Crouzon syndrome.

Living with Crouzon syndrome: how do young adults with Crouzon syndrome handle their life situation?

BACKGROUND: Recent research has been focused on those attributes that appear to buffer a person against the stresses and strains of living with a visible difference. AIM: To provide some insight on how young adults with Crouzon syndrome handle their life. DESIGN: Telephone interviews were carried out with eight Crouzon syndrome individuals (six males, two females, mean age 25.4 years) and data were analysed according to the qualitative method of grounded theory. RESULTS: The informants' main concern was to make the best of their situation, showing that even in adverse conditions, as in Crouzon syndrome, several individuals do find ways to live with their difference and to succeed in various aspects of life, using strategies they construct. Such strategies, as identified from the present investigation, were labelled: committed to an engaging activity, avoiding exposed situations, actively launching oneself, struggling with normalizing facial appearance, and lowering the expectations of finding a love partner. CONCLUSIONS: The adaptation of successful coping strategies seemed to be crucial in the quest of attainment of higher self-esteem. The more the participants in the study used the coping strategies they had developed over time, the better they handled their life situation, which led to enhanced well-being.

[Crouzon syndrome: factors related to the neuropsychological development and to the quality of life]. / Síndrome de crouzon: fatores envolvidos no desenvolvimento neuropsicologico e na qualidade de vida.

Crouzon syndrome is characterized by cranial and facial abnormalities and exophtalmos. Mental retardation is sometimes observed. The objective of this study was to correlate brain malformations, timing for surgery and also social classification of families and parents education to the neuropsychological evaluation and to the quality of life of these families. Eleven patients with Crouzon syndrome were studied, whose ages were between 16 and 132 months. The multidisciplinary evaluation included : social evaluation, cognitive evaluation, brain studies by magnetic resonance imaging and quality of life evaluation. The intelligence quotient values observed were between 46 and 102 (m=84.2) and was correlated (inverted correlation) to the factor IV of the short-form of the Questionnaire on Resources and Stress. Mental development was not correlated to brain malformation, neither to the age at time of operation or to the level of family environment and parents education.

Síndrome de crouzon: fatores envolvidos no desenvolvimento neuropsicologico e na qualidade de vida / Crouzon syndrome: factors related to the neuropsychological development and to the quality of life

A síndrome de Crouzon é caracterizada por deformidade craniana, alterações faciais e exoftalmia. O retardo no desenvolvimento neuropsicomotor é observado em alguns casos. Este estudo tem como objetivo analisar a influência do momento da cirurgia, da classe sócio-econômica associada ao nível educacional dos pais e da ocorrência de malformações do sistema nervoso central no desenvolvimento cognitivo destes pacientes correlacionando estes achados à qualidade de vida deles e de suas famílias. Foram estudados 11 pacientes com diagnóstico de síndrome de Crouzon com idade entre um ano e quatro meses e treze anos. A avaliação multidisciplinar dos pacientes incluiu, avaliação social, avaliação cognitiva, estudo do encéfalo por ressonância magnética e avaliação da qualidade de vida. O quociente de inteligência variou de 46 a 102 (m=84,2) e foi correlacionado de forma inversa com o Fator 4 do Questionário de Recursos e Estresse Simplificado (incapacidade da criança); não se correlacionou com as alterações encefálicas, com a condição sócio-econômica dos pais e nem com o momento do tratamento neurocirúrgico.

Crouzon syndrome is characterized by cranial and facial abnormalities and exophtalmos. Mental retardation is sometimes observed. The objective of this study was to correlate brain malformations, timing for surgery and also social classification of families and parents education to the neuropsychological evaluation and to the quality of life of these families. Eleven patients with Crouzon syndrome were studied, whose ages were between 16 and 132 months. The multidisciplinary evaluation included : social evaluation, cognitive evaluation, brain studies by magnetic ressonance imaging and quality of life evaluation. The intelligence quotient values observed were between 46 and 102 (m=84.2) and was correlated (inverted correlation) to the factor IV of the short-form of the Questionnaire on Resources and Stress. Mental development was not correlated to brain malformation, neither to the age at time of operation or to the level of family environment and parents education.

Surgical reconstruction of patients with Crouzon's syndrome: a lifetime of needs.

Crouzon's Syndrome is an inherited craniofacial deformity. Unfortunately, like with many other complex disorders, there is no quick fix. Treatment consists of numerous surgeries over a long period of time. Nurses are crucial team members as they are best educated to balance the physical, psychosocial, and developmental needs of patients and families.

Social support networks among families of children with craniofacial anomalies.

Investigated the social support available to families of children born with craniofacial anomalies and the perceived degree of satisfaction derived from these relationships. Thirty-six children (1 month to 5 years old) born with craniofacial deformities (FD) were matched by age and sex to 36 children with no significant physical or behavioral problems. The Social Support Questionnaire-Revised, the Revised Denver Developmental Screening Test, and a semistructured interview were administered. Results indicated that parents of FD children reported less available social support and were significantly less satisfied with their support. Parents of children who had more severe physical impairments and were rated as less attractive reported having less available and less satisfying social support. In particular, the social competence of the child was the most important predictor of parental social support. This result is interesting as the parents of FD children appeared to underreport the presence of behavioral-psychological problems in their children.

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.

Hydrocephalus in Crouzon's syndrome.

We reviewed 42 cases of Crouzon's syndrome. There were 16 cases with ventricular dilation. We believe that shunt should be inserted after fronto-orbital advancement if there are persistent signs of raised intracranial pressure. However, in cases presenting with severe ventricular dilation and papilloedema, a shunt is inserted prior to fronto-orbital advancement. Medium- or high-pressure systems should be used.

Psychosocial outcome of craniofacial surgery in children.

Thirty-four children between the ages of 7 and 15 years with congenital craniofacial anomalies underwent psychosocial evaluation before and 12 to 18 months after surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Preoperative assessment revealed the craniofacial group to have multiple but not severe psychosocial limitations. At follow-up, only a measure of social functioning still differentiated the groups, with the craniofacial subjects experiencing more negative social encounters. Comparison of initial and follow-up scores for the craniofacial group revealed a significant reduction in trait anxiety and trends toward reduction in parent-reported inhibited and hyperactive behavior. Scores on measures of extraversion and social functioning tended to be positively correlated with age for the comparison subjects only. Results suggest a modest improvement in psychological adjustment following surgery with a residual, possibly increasing, deficit in social functioning.

Psychosocial considerations in craniofacial deformity.

The authors evaluate the hypotheses that duration and severity of craniofacial malformations correlate with psychosocial adjustment. Reviewing data from congenital and traumatic craniofacial malformation patients of varying ages, they find partial support for the hypothesized associations; however, the relationship between psychosocial adjustment and craniofacial deformity is far from straightforward.

Life response to Crouzon's disease.

This paper describes the life responses of two adult patients with facial deformities associated with untreated Crouzon's disease. Each patient has normal intelligence, and each has two children and close family relatives who exhibit variable degrees of Crouzon's disease. The impact of untreated facial deformity is considered, and recommendations are made for psychosocial management of these patients and their families.