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.

Treatment of Apert Hand Syndrome: Strategies for Achieving a Five-Digit Hand.

BACKGROUND: Apert hand reconstruction requires complex surgical planning. The purpose of this study was to describe the authors' 8-year surgical experience with Apert syndrome hand reconstruction, and provide specific surgical strategies for achieving a five-digit hand in Upton type I and II hands. METHODS: A retrospective analysis of consecutive Apert syndrome patients who underwent web-space releases between 2007 and 2015 was performed. Demographic, surgical, and outcome data were verified through medical records, clinical photographs, radiographic images, and patient interviews. RESULTS: A total of 41 Apert syndrome patients [23 boys (56.1 percent) and 18 girls (43.9 percent)] have been treated at our hospital since 2007. A five-digit hand was achieved in all patients (100 percent) with Upton type I and II hands, and in eight patients (72.7 percent) with Upton type III hands. A four-digit hand was obtained in three of 11 patients (27.3 percent) with Upton type III hands. Four of 20 patients (25 percent) with Upton type I hands, three of 10 patients (30 percent) with Upton type II hands, and six of 11 patients (54.5 percent) with Upton type III hands required subsequent revision for aesthetic reasons. CONCLUSIONS: Upton type III hands have demonstrated higher revision rates than type I and II hands, regardless of whether a four- or five-digit hand is obtained. Treatment strategies for Apert syndrome hands based on hand type are offered to guide four-web-space release in all patients with Upton type I and II hands. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

A 37-year-old Nigerian woman with Apert syndrome - medical and psychosocial perspectives: a case report.

BACKGROUND: Apert syndrome is a rare genetic disease that presents a diagnostic dilemma because of its similarity with other craniosynostosis syndromes. Currently, there is paucity of reports about adult patients in African medical literature. Therefore, this case report highlights medical and psychosocial problems associated with the disease in an adult woman who is resident in a resource-constrained setting. CASE PRESENTATION: Our patient is a 37-year-old African woman. She had abnormal characteristics of the skull, face, and extremities that were detected at birth. She is clinically stable but moderately depressed as an adult. Mutation in fibroblast growth factor receptor 2 (Ser252Trp) was positive. Her physical deformities and the laboratory findings confirmed the diagnosis of Apert syndrome. She missed opportunities for vital interventions to limit the physical and psychosocial effects of the disease, especially during early growth and developmental period, mainly due to the inadequacy of the institutions offering medical and psychosocial support. As a child she did not complete formal education or acquire vocational skills even though intellectual disability was never established. During adulthood she became socially deprived owing to her physical features and educational handicap. Her lifelong dependency is an unfortunate social consequence starting with developmental challenges encountered during childhood and worsened by adult social maladjustment. CONCLUSIONS: Our patient does not have medically life-threatening features but was depressed. We recommend strengthening of institutions for early medical intervention and lifetime psychosocial support to limit physical and psychosocial effects of Apert syndrome among adult survivors in resource-limited settings.

The Quality of Life in Adult Patients With Syndromic Craniosynostosis From Their Perspective.

INTRODUCTION: Clinical intuition may perceive those adults with syndromic craniosynostosis to have a lower quality of life (QOL) compared with the normative population. Classification of facial difference; standardization of cognitive capacity and selection of an appropriate QOL measurement tool provides a less intuitive and more evidence-based method of assessing QOL in this particular group of patients. METHODS: Adults with syndromic craniosynostosis treated by the same surgeons underwent Whittaker Classification for facial difference by an independent observer. Neuropsychology screening ensured cognitive ability in patients for independent answering of a World Health Organization QOL postal questionnaire. Data analysis using descriptive and z test statistics allowed comparison to nonsyndromic adult United Kingdom data provided by the World Health Organization. RESULTS: Forty adult patients met authors' inclusion criteria. Whittaker Classification of facial difference ranged from I (31 patients) to II (8 patients) and III (1 patient). Quality of life showed no correlation to facial difference. Quality of life was better in the physical, psychological, and environmental domains compared with the normative adult UK population. However, no statistical difference was found in the social domain. Female Apert syndrome patients had a worse QOL than males in the social domain. CONCLUSIONS: The counterintuitive findings show that adult syndromic patients with similar cognitive capacity perceive their quality of life as being above that experienced in a normative UK nonsyndromic population with no correlation to the degree of facial difference.

Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis.

OBJECTIVES: To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. METHODS: A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. RESULTS: We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ < 85) compared with the normative population (P < .001) and had more behavioral and emotional problems compared with the normative population, including higher scores on the CBCL/6-18, DBD Total Problems (P < .001), Internalizing (P < .01), social problems (P < .001), attention problems (P < .001), and the DBD Inattention (P < .001). Children who have Apert syndrome had lower FSIQs (M = 76.7; SD = 13.3) and children who have Muenke syndrome had more social problems (P < .01), attention problems (P < .05), and inattention problems (P < .01) than normative population and with other diagnostic subgroups. CONCLUSIONS: Although children who have syndromic craniosynostosis have FSIQs similar to the normative population, they are at increased risk for developing intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning.

Children with Apert syndrome as adults: a follow-up study of 28 Scandinavian patients.

BACKGROUND: Apert syndrome (acrocephalosyndactyly type 1) includes craniofacial deformities, malformations of the extremities and the central nervous system, and often mental retardation. The aim of this study was to investigate the life situation of adult patients with Apert syndrome. METHODS: Thirty-three patients with Apert syndrome born before 1990 were identified in the Göteborg craniofacial registry. The authors used a questionnaire mainly dealing with education, employment, social relations, and quality of life. A matched control group was created for comparison. RESULTS: Five of the patients had died. Twenty-four of the remaining patients answered the questionnaire. The level of education was lower in patients than in controls (p = 0.007), but there was no significant difference in the extent of employment between the two groups. The difference in housing was significant (p < 0.001) and the majority of patients lived with their parents. Patients were less often married (p < 0.001), had fewer friends (p < 0.001), and had less experience with sexual relationships (p < 0.001). The somatic health was lower in patients [e.g., they had more hearing problems (p < 0.001) and more epilepsy (p = 0.005)]. Depressive mood periods were more common in patients (p < 0.001), but there was no difference between the groups regarding a generally positive attitude toward life. CONCLUSIONS: This study shows that patients with Apert syndrome manage relatively well in adulthood. The discrepancy in social relations between the Apert patients and the healthy control group indicates that further improvement of the treatment is desirable.

Apert syndrome: quality of life and challenges of a management protocol in Brazil.

Apert syndrome is a complex craniofacial deformity with a broad clinical spectrum that mainly affects the craniofacial skeleton, lower and upper limbs. The quality of life for patients born with Apert syndrome may be strongly affected by the limitations that this syndrome imposes. The aims of this study were to describe the quality of life of patients born with Apert syndrome and the challenges of managing an Apert protocol in Brazil. The quality of life of 8 Apert patients who adhered to our management protocol was assessed using the Portuguese version of WHOQOL-100 (World Health Organization Quality of Life instrument). The answers were submitted to SPSS (Statistic Package for Social Science), and results were expressed in 25 facets and 6 domains (physical, psychological, social relations, level of independence, environment, and spirituality). Patients and families signed an informed consent, and the study was previously approved by our institutional review board. The cohort of patients scored 60 in 22 of 25 facets, with no grade less than 50. The facet of positive feelings note was 76.79; self-esteem and body image scored, respectively, 75.00 and 85.71. When the facets were grouped into domains, they had a high overall score. The cohort of Apert patients presented a satisfactory quality of life. This cohort of Apert patients acquired the necessary repertoire to manage the aversive daily situations of their lives.

A case of autism in a child with Apert's syndrome.

We present the case of a 7-year-old child with Aspert's syndrome who was diagnosed as suffering from childhood autism. As far as we are aware this is the first described association between autism and acrocephalosyndactyly syndromes. We discuss issues regarding the diagnosis and co-morbidity of the autistic spectrum disorders.

Social adjustment of children with a severe craniofacial anomaly (Apert syndrome).

OBJECTIVE: Children with a severe craniofacial anomaly are at risk for emotional and behavioural problems. Do children with Apert syndrome present with a special psychological profile? METHOD: Parent reports (Child Behaviour Checklist) were obtained from 25 children with Apert syndrome. RESULTS: Fourteen children were characterized by clinically significant social problems, 10 by attentional problems, nine by social withdrawal. Total CBCL-scores were in the clinical range for eight children. CONCLUSION: Information on psychosocial state should be included in regular check-ups of children with a severe craniofacial anomaly in order to identify children who are in need of psychological interventions.

Neuropsychological and phonological evaluation in the Apert's syndrome: study of two cases.

This study evaluated two cases of Apert's syndrome, through phonological, cognitive, and neuropsychological instruments and correlated the results to complementary exams. In short, this study reveals the necessity of application of neuropsychological, cognitive and phonological evaluation and correlation of the results with complementary testings because significant differences can be present in the Apert's syndrome.

Children with Apert syndrome: behavioural problems and family stress.

Apert syndrome is characterized by severe craniosynostosis, midface hypoplasia, and symmetric syndactyly of the hands and sometimes of the feet. In this study, postal questionnaires were completed by parents of 41 children with Apert syndrome. Data from this preliminary survey revealed that the children functioned fairly well socially despite their disabilities and potential for psychological difficulties. Parents suffered from stress caused by problems over acceptance of the child's appearance, the child's behavioural problems, and parental low self-esteem. Ten mothers and eight fathers scored in the deviant range for parental stress, suggesting a need for psychological counselling.

[Parent stress in complex craniofacial abnormalities]. / Elternbelastung bei komplexen kraniofazialen Fehlbildungen.

The birth of a child with craniofacial disorders creates tremendous stress on the parents' coping resources. In a postal survey 41 mothers and 32 fathers of children with Apert syndrome report stress concerning acceptance problems and low self-confidence. Both, mothers and fathers express a comparable degree of emotional stress. The quality of family relationships reveals as a buffering factor in coping.

Cognitive functioning of young children with Apert's syndrome.

Apert's syndrome is characterized by severe craniosynostosis, midface hypoplasia, symmetric syndactyly of the hands and sometimes feet. Cognitive functioning was evaluated in 11 children between 2.5 and 12.3 years. Four children had a normal IQ, four children had an intellectual ability in the borderline range and three children were mentally retarded. There was a consistent relative deficit in short-term memory and arithmetics. Some recommendations for psychological monitoring are discussed.

[Mental prognosis of Apert syndrome]. / Pronostic mental du syndrome d'Apert.

BACKGROUND: Mental retardation, considered as common in Apert syndrome could be in part due to associated brain abnormalities. POPULATION AND METHODS: Sixty patients (32 males, 28 females) were included in the study. Patient age at the last examination was over 3 years (mean 10 years, range 3-28 years) in 38 patients. IQ was assessed from psychometric tests adapted for age. Brain anatomy was studied by MRI. Age at operation and quality of familial environment were also evaluated. RESULTS: The IQ was over 70 in 12 patients (32%), over 90 in five (13%) and the mean IQ was 62 (10-114). Thirty percent of patients had abnormalities of the corpus callosum, 43% of the cerebral ventricles and 55% of the septum pellucidum. There was no anomaly in 28% of the patients. One or more operations were performed in 53 patients, before one year of age in 37. Ten children were institutionalized or in deleterious family situation. The main factor influencing the mental prognosis was the age at operation: the final IQ was over 70 in 50% of the children operated on before one year of age versus 8% in those operated on later (P = 0.01). Only the anomalies of the septum pellucidum seemed to play a role: 50% of the patients with normal septum had an IQ > 70 compared to 18% in those with septum anomalies (P < 0.04). The quality of the familial environment also influenced the mental development: 12.5% of the patients who were institutionalized or in difficult familial situation had an IQ > 70 compared to 39% of those who live in a normal family. CONCLUSIONS: Careful investigation including MRI is necessary for detecting associated brain abnormalities. The patients must be operated on early, if possible before the age of nine months. Attention has also to be paid to quality of the sociofamilial environment.

Psychosis in Apert's syndrome with partial agenesis of the corpus callosum.

A 19-year-old male with Apert's syndrome developed psychotic symptoms that responded to haloperidol. He was also found to have partial agenesis of the corpus callosum and enlarged lateral ventricles on a head CT scan. The implications of these findings in the context of psychotic symptoms are discussed. There are no previous reports of psychosis in patients with Apert's syndrome.

[Neuropsychiatric manifestations of Saethre-Chotzen syndrome]. / Neuropsychiatrische Begleitsymptome bei Saethre-Chotzen-Syndrom.

Four psychiatric patients with SCS are described. All exhibited essential tremor, minimal cerebral dysfunctions, speech disorders, bradyphrenia, disorders of personality with psychasthenie and suspicious traits, restrictions, increased irritability and depressivity, one case of mutism due to abnormal reaction and one of alcohol hallucinosis. The possibility of cosmetic handicap caused by craniofacial dysplasia should be taken into mind and perhaps surgically corrected. Because the craniofacial dysplasia is mostly moderate and the syndactylies are slight the SCS remains often unrecognized, but apart from psychic maldevelopment it is significant as the result of frequent association with other malformations.

Children with Apert syndrome: developmental and psychologic considerations.

Innovations in craniofacial surgery have enabled children with Apert syndrome to achieve their full potential by maximizing their opportunities for intellectual growth, physical competence, and social acceptance. However, at each developmental phase they are confronted with different challenges to their emotional and social adaptation that must be overcome. Children with Apert syndrome continue to face erroneous assumptions of mental retardation and social stigmatization because of their appearance. Families and medical care providers play a critical role in fostering their adjustment and supporting them during these emotionally stressful periods. Most importantly, by understanding the unique issues of each developmental period, parents and professionals also have the capacity to maximize their opportunity for psychologic well-being.

[Chotzen-Saethre syndrome with oligophrenia and psychological abnormal development]. / Chotzen-Saethre-Syndrom mit Oligophrenie und psychischer Fehlentwicklung.

A weak minded man aged 31 years exhibited with moderate acrobrachycephalia, basal cutaneous syndactylies of the 2nd and 3rd fingers, marking symptoms of the Saethre-Chotzen syndrome (SCS), with dominant inheritance in three generations. Additionally there were symptoms of Ascher's syndrome, blepharochalasis, goitre and broad lower lip. The psychic maldevelopment is considered in association with a syndrome of the frontal lobe. Severe craniostenosis is rare at SCS; cosmetic handicap and obstruction of the nasal airway can be corrected by craniofacial surgeon.

Intellectual development in Apert's syndrome: a long term follow up of 29 patients.

Twenty-nine patients with Apert's syndrome were ascertained through hospital records. The mean age was 19.3 years (range eight to 35 years). Further information was obtained on their intelligence, education, and employment records. Fourteen patients (48%) had a normal or borderline IQ (greater than 70), nine patients (31%) were mildly mentally retarded (IQ 50 to 70), four patients (14%) were moderately retarded (IQ 35 to 49), and two patients (7%) were severely retarded (IQ less than 35). Early craniectomy did not appear to improve intellectual outcome. Six of the seven school leavers with normal or borderline intelligence were in full time employment or vocational training.

A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome.

Twenty-five children with Apert's syndrome, characterised by craniosynostosis and symmetrical syndactyly of hands and feet, were seen by a psychosocial team. The patients ranged in age from 1 month to 15 years. All had undergone synostosis release in the first year of life and were being assessed for craniofacial reconstructive surgery. Psychosocial adjustment was evaluated using a semistructured interview, psychometric testing. Piers-Harris Self-concept Inventory and Hay's Appearance Rating Scale administered by a team consisting of a child psychiatrist, psychologist and social worker, 6 months before surgery and 1, 2 and 4 years after surgery.