Especially important to identity is the face, which in contrast to the rest of the body is always exposed [1
]. This means that “the face tells others about who we are” [2
]. The face plays a key role in building and maintaining social relations. An atypical or distorted face may cause problems in social interactions and affect individual self-esteem [3
Numerous studies show that craniofacial disfigurement affects various aspects of the lives of those suffering therefrom as well as their loved ones. Parents of children with craniofacial anomalies may fear the reactions of others to the appearance of their child, and wonder whether their child will be accepted. Furthermore, parents may find it difficult to talk frankly with their child about his or her craniofacial differences, and/or become overprotective [6
] (pp. 93, 98). Children with craniofacial disfigurement are more prone to negative self-perception and low self-esteem [6
] (pp. 93–94) [7
]. Adolescents with craniofacial anomalies feel less attractive, and are ridiculed by their peers [8
Facial disfiguration can be congenital or acquired [6
]. Acquired disfigurements can be caused by injury, disease, or surgical treatment (e.g., scars). One example of congenital malformation of the entire head and the face is craniosynostoses.
Craniosynostoses are a heterogenous group of congenital diseases occurring in one out of every 2000–2500 live births. Although they are the second most common group of facial and skull defects after orofacial clefts, their frequency classifies them as a rare disease [13
The surgical treatment of children with craniosynostoses is based on multidisciplinary reconstruction of the skull, including reconstruction of the upper and/or middle part of the face.
The aim of this study was to analyze parents’ subjective assessments of the appearance of the head and face of children with craniosynostoses. The interpersonal relationships of these children were also assessed. More specifically, we will focus on: (1) if there are any statistically significant differences in subjective assessment of the child’s head and face appearance before and after surgical correction; (2) if specific etiology of craniosynostosis (syndromic vs. non-syndromic) is responsible for objective assessment of the child’s head and face; (3) if the age of the child influences the assessment of the head and face appearance; and (4) if the children with craniosynostoses after head reconstruction had problems with social relations with peers and adults.
The main force that is responsible for head growth of fetuses and infants is the brain as it rapidly expands inside the skull cavity. Cranial sutures are fibrous joints between the cranial vault and the skull base, and they are one of the key factors that allows head growth. Craniosynostoses are congenital defects in the construction of the skull involving premature fusion of one or more cranial sutures. Premature fusion of sutures causes characteristic skull deformation depending on which suture is fused. The most common types of craniosynostoses are: sagittal synostosis (premature fusion of the sagittal suture); metopic synostosis (fusion of the metopic suture); unicoronal synostosis (unilateral or bilateral fusion of the coronal suture); bicoronal synostosis (simultaneous fusion of the sagittal and metopic suture); and complex synostosis (simultaneous fusion of two or more sutures).
Etiology of craniosynostoses is diverse and in most cases still not clear. It is estimated that around 90% of craniosynostoses cases are isolated and non-syndromic. The remaining 10% of cases occur as part of syndromes with genetic etiology. The most common are mutations in FGRF1
, or TWIST1
genes. The most important syndromes are Crouson syndrome, Apert syndrome, Muenke syndrome, Pfeiffer syndrome, and Saethre-Chotznen syndrome. However, recent research indicates that some defects clinically classified as non-syndromic also involve genetic mutations [15
We should emphasize that the premature fusion of the single suture causes abnormal shape of entire head, even when there are only small fused sutures around the base of the skull. Such abnormal shape and structure of the skull vault always affects also facial structure. The deformation pattern depends on the type of craniosynostosis. The most common abnormalities in the face are problems with positioning of the orbits causing hipotelorism, hypertelorism, and/or dystopia. Premature closure of unilateral coronal suture usually lead to more or less severe facial scoliosis. In children with syndromic symptoms, the craniosynostosis does not only affect the head and face, but also could affect other bones and organs over the entire body. In some syndromes head deformity can also occur concomitantly with a cleft lip or palate. Another characteristic concomitant deformation is polisyndactylia of the feet and hands and/or other limbs abnormalities concerning bones and joints. The parents of patients, as well as patients themselves, often indicate that, in addition to their physical consequences, the above deformities also have psychological and social consequences [16
There is much controversy over the specific goals of craniosynostosis treatment in children. The indications that treatment reduces intracranial hypertension and corrects significant bone deformities that affect bodily functions such as breathing, food intake, eyesight, etc., are obvious and indisputable [19
]. Yet there is a fairly large number of children with isolated craniosynostosis who do not suffer from intracranial hypertension. The speech impediments, muscle tension, and even vision impairment occurring various percentage of children according to type of craniosynostosis and can be treated conservatively through speech therapy, physical therapy, and multi-profile child development support [21
]. This poses the question of whether it is reasonable to take the risks associated with reconstruction surgery.
Aesthetic appearance of the head and the face are also important factors in qualification process, preoperative planning of surgery and assessment of the surgical results not only from medical but also psychological and social points of view [26
The aim of our study was assessment of surgical results in context of head and face appearance and their influence on interpersonal relationship.
Clinical assessment of craniosynostosis correction is still a point of debate. The most common is assessment by craniofacial specialist done according to Whitaker classification system that is simple and widely used [29
]. The classification system were categorized on the basis of the need for additional surgery for correction of still visible aesthetical abnormalities. In some studies the aesthetic and clinical results after surgical treatment remain stable [31
]. Unfortunately other authors demonstrate a clear trend toward worsening aesthetic outcomes over time [29
]. On the other hand the authors in the next research showed that the Whitaker classification exhibits low interrater reliability and could not predict future treatment [29
]. That is why subjective non specialist-specific assessment is needed for treatment results evaluation. Care et al. [28
] developed a photobook consisted of preoperative and postoperative photographs of patients. They showed that such method could be helpful for parents to make decision about surgery and for proper understanding of aesthetic surgical results [28
]. There are no studies in Polish medical literature concerning subjective assessment of surgical results of children with craniosynostoses.
In our research the majority of parents declared that after surgery, the appearance of their child’s head and face (76% and 86%, respectively) did not differ from that of their peers. Furthermore, most parents declared that their children did not have problems relating to other adults (87.6%) or peers (86.2%), and that they were not ignored by their peers (85%). One important revelation from this study was that the positive aesthetic and social effects of surgery are stable over time (in children 3, 4 and 5+ years old). Further studies of adolescent children would definitely provide more information on this clinically important subject [32
]. Salokorpi et al. [33
] analyzed the satisfaction with facial appearance and attractiveness of 40 adults who as children had undergone cranial reconstruction due to non-syndromic sagittal synostosis, as rated by two independent panels. The study revealed that patients who had been treated surgically were as happy with their facial appearance as individuals in an age- and gender-matched control group. They evaluated their appearance as only somewhat less attractive.
Another important revelation is as follows. Children with craniosynostoses often have neurodevelopmental disorders, which affect how they function in both school and family environments. Symptoms include clumsiness, problems in school, vision impairment, and speech impairment [22
]. Each of these alone is often enough to reduce self-esteem and quality of life. Such symptoms are usually more pronounced in children who have not undergone reconstructive surgery, and further hinder peer contact and social function. These strictly subjective consequences are very rarely considered as indications for surgery. This research reveals that skull reconstruction surgery in early childhood improves head and facial appearance, as well as social function. Due to these accompanying disorders and more serious, often progressive deformities, children with genetic defects benefit less from surgery (both clinically and socially) than children with isolated craniosynostoses. Nevertheless, this study shows that surgery does improve the appearance and social function of children with genetic defects.
Almost all respondents (97.7%) declared that they would recommend surgery to other parents of children with craniosynostoses.
One of major limitations of this survey is that it is conducted after surgery, not both before and after surgery. The bias may thus be introduced based upon our clinical experience. This study analyzed the opinions of parents of children with craniosynostoses. Due to the age of the children, the children themselves were unable to assess the appearance of their head and face, or their interpersonal relations. We are planning to study this in the future, and correlate the results with the assessments of their parents. The size and age distribution of the analyzed group did not allow for comparison of children who had undergone surgery with those who had not (there were only a few such children, and they were very young). Finally, separate analysis of children with genetic defects as part of syndromes may provide more specific insight into this extremely heterogenous group.