Annales Academiae Paedagogicae Cracoviensis

Folia 55 Studia Psychologica III (2008)

Joanna Kossewska Psychosocial development of children with Treacher Collins Syndrome

Treacher Collins Syndrome (TCS) is a rare and very complex genetic condition involving underdevelopment o f the structures o f the head and face. TCS is inherited in an autosomal dominant manner with variable expression. About 40% o f individu­ als diagnosed with TCS have an affected parent, however about 60% o f probants have the disorder as the result o f a de novo gene mutation that is, so far, different in every family. The prevalence o f TCS is estimated to be between one out o f every 10,000 live births and one out o f every 50,000. In the beginning of the 20th century, Edward Treacher Collins, a British ophthal­ mologist, described two children who had very small cheekbones and notches in their lower eyelids. Therefore the condition received its name after him, however, two most common alternative names are ‘mandibulofacial dysostosis’ and ‘Franceschetti- Klein Syndrome’. Treacher Collins and Franceschetti and his co-workers were doc­ tors who described patients with this characteristic appearance in 1900 and 1949, respectively. ‘Mandibulofacial dysostosis’ is the name Dr. Franceschetti gave to this condition, and simply means abnormal development o f the lower jaw (mandible) and the face (Reich 1996). The gene for TCS, Treacle, was identified in 1996 by The Treacher Collins Syndrome Collaborative Group, composed o f the genetic research teams o f Dr. Michael Dixon o f the University o f Manchester, United Kingdom, and Dr. John Wasmuth of the University of California, Irvine, U.S.A. Treacher Collins Syndrome locus ( TCOF1) was initially mapped to human chromosome 5q region 31-34 (The Treacher Collins Syndrome Collaborative Group 1996). Although the broken gene has now been found and a lot o f researches have been done in the field o f genetics, there is still a great deal o f research to be done to gain a better understanding o f the mechanisms underlying the development and psychosocial adjustment o f children with TCS. Moreover, this may also lead to a better comprehension o f the mechanisms responsible for coping process and well- 54 Joanna Kossewska being. Variety o f psychosocial condition probably involved in children’s with TCS development is shown on graph 1 and discussed below.

Graph I. Special developmental conditions

What kind of problems could the child have?

The clinical features o f the condition are usually bilaterally symmetrical in na­ ture, however, the children can be affected in varying degrees. The conditions in­ clude four main areas o f abnormalities: external ears, malformation o f facial bones or eyelids, as well as cleft palate (Allen et al. 1990). These craniofacial abnormalities lead to specific appearance and health problems o f the affected child. Children with TCS have sad looking faces due to the drooping appearance o f the lower eyelids, which is caused by the lack o f bony support around the lower portion o f the orbit. The cheekbones can be underdeveloped or absent. This means that the cheek mus­ cles join onto the lower jaw muscles and so cause sloping eyes. Also, the eyelashes may be missing or growing irregularly. Psychosocial development of children with Treacher Collins Syndrome 55

The cause o f specific appearance is hypoplasia of the facial bones, particularly the mandible and zygomatic complex as well as downward slanting o f palpebral fissures with colobomas o f the lower eyelids and a paucity o f lid lashes medial to the defect. There occur abnormalities o f the external ears frequently with atresia o f the external auditory canals (congenital imperforation o f the normal channel or pathological closure o f the channel in the ears) and anomalies o f the middle ear os­ sicles, which result in bilateral conductive hearing loss. Ear deformity ranges from prominent ears to misshapen ears to complete absence o f the external ear. The exter­ nal ear canal abnormalities are usual, the middle ear is seldom impaired, as well as ossicles (dismorphic or missing), however the inner ear structures are usually nor­ mal. The majority o f patients with TCS have a unilateral or bilateral moderate or greater degree o f hearing loss and almost half o f them have an asymmetric hearing loss. Conductive hearing loss in patients with TCS is mainly attributable to their middle ear malformations, which are similar for those o f patients with malformed or missing ossicles (Pron et al. 1993). Cleft palate results in many somatic and health problems, especially with breath­ ing and feeding, which are the most stressful processes for both the mother and the child. Because o f the small jaw and airway, combined with the normal size o f the tongue to be positioned further back toward the throat, breathing problems can occur at birth and during sleep for a child with TCS when the base o f the tongue obstructs the small hypopharynx. This results in smaller airways, which become even smaller during infections. This situation can cause serious problems during the induction o f general anesthesia. Consequently, a tracheotomy may be required to adequately control the airway (Argenta, Iacobucci 1989)

Attachment

Attachment is the basis o f psychosocial development which begins with the es­ tablishment o f a close emotional relationship between a child and his/her mother. Infants are bom with built-in behaviors that signal to mothers to respond to children and help to draw their mothers to them. Smiling, crying and vocalizing, as well as orientation to faces, rooting reflexes, and preference for their mother’s voice are ex­ amples o f these proximity-promoting signals. It is these pre-adapted behaviors that help to set the pace for early mother-child interactions. Attachment develops and strengthens as the child begins to recognize mother’s responsiveness to his/her needs and begins to trust that she w ill continue to provide for them. Successful attachment depends on an infant’s ability to emit these signals and also on the adult’s tendency to respond to these signals. 56 Joanna Kossewska

Infants w ill form attachment to mothers who consistently and appropriately respond to their signals. Young children can be described as having varying levels or types o f attachment based on their behavior in interactions with their mothers. Infants and young children with ‘secure’ or healthy attachments can use their trust in their mother to begin to explore their environment and interact with others. Their caregiver provides a ‘safe base’, from which they can explore and investigate. On the other hand, infants with ‘ insecure’ attachments are less likely to separate from their mothers and explore, seeming to need physical contact in order to be ‘attached’ (Bowlby 1971) Attachment can continue to have an important role in relationships in childhood and adulthood by providing the cognitive schemata for understanding how others will interact with an individual. Children with insecure attachments have been found to have poorer social skills and to have greater risk for developing psychopathology (Hills 2002). I f the major tool for this crucial maternal-infant bonding process is altered by craniofacial deformities, there is potential for impaired bonding and attachment problems. The child with TSC faces specific conditions for starting and continuing the mother-child interaction. Mother-infant interactions can be viewed within the context o f mother-child attachment and influenced by the child’s attractiveness. His face is strange because o f lack of harmony between the nose and the face, which is a basic requirement o f aesthetic balance in a healthy face, even for his mother, who is more sensitive to her child and its non-verbal communicates than others. The abnormal facial features o f the infant are likely to elicit a different maternal pattern o f gaze, eye-contact and interaction that has the potential to impair healthy neurodevelopment and result in significant neuropsychological problems. It was found that mothers o f less attractive infants engaged in more routine care-giving and attending to others than mothers o f attractive infants, who engaged in more affectionate play (Langlois et al. 1995). Mothers o f unattractive infants saw more value in stimulating their infants than did mothers o f attractive infants. These differential behaviors towards attractive versus unattractive infants could not be explained by differences in the infant’s behavior. The difficulty associated with feeding the children with TCS could also have possible impact on attachment behaviors. Infants with cleft lip and palate can experience excessive air intake, nasopharyngeal reflux, and difficulty sucking, which can result in less satisfying feeding interactions for both the mother and child (Speltz, Goodell, Endriga and Clarren 1994). Mothers o f children with TCS can suffer from PTSD related to trauma following the child bearing, they live under long-term stress related to their deformities and feeding difficulties. They also experience stress related to life threat, which is the most important. Psychosocial development of children with Treacher Collins Syndrome 57

Child s attractiveness

The mother o f a child with TCS also experience ambiguous feelings towards him because o f his low attractiveness and the normative imperative due to the ob­ ligations o f a mother. Such a difficult mother’s situation may cause that the first set o f the child’s experiences are chaotic, inconsistent, and devoid o f stimulation or emotional attention, and the child w ill have templates that match the disorganized, chaotic and emotionally empty experiences. Mothers also experience stress related to ambiguous feeling towards the child, influencing the development o f low self­ esteem in the maternal role, expressed in the false believes that they are not ‘good enough as a mother’ (Winnicot 1994). That is why mothers o f infants with cleft lip and palate were observed to be less sensitive to their infants’ cues than mothers of infants in the other group. Infants with unattractive faces are disadvantaged, because adults favor those whom they find ‘cute’. I f mothers o f average infants behave differently based on their infant’s attractiveness, having a child bom with a craniofacial abnormality would be expected to negatively impact the mother-infant relationship. In the study o f Barden and colleagues (1989), self-report technique and behavioral observation procedures were used to find subjective and objective determinants o f the mother- child contact. It was found that mothers o f craniofacial deformity were observed to behave in a consistently less nurturant manner than mothers o f normal children, however simultaneously they have been found to rate themselves as more satisfied with their parenting role and had more positive life experiences following pregnancy than mothers o f normal infants. These less nurturant manner included behaviors such as touching the baby less affectionately, smaller amount o f time spent in a face-to-face position, and less quick responding to infant cues. The authors point out that this pattern o f decreased rein­ forcement for social behaviors on the part o f both the mother and infant may lead to a cycle o f decreased responsiveness and interactivity that weakens the attachment. In addition, mothers o f craniofacially deformed infants rate their relationship with their child as average or above average. These results suggest that infant facial deformity/unattractiveness may affect the quality o f infant-mother interactions with­ out parental awareness; moreover, parents o f facially deformed infants may deny or be unaware o f deficits in their relationships with these children, because they may present an idealized image o f their relationship with their imperfect child. It might be also one o f the defense mechanisms used to decrease the mother’s fear and increase her self-esteem. Using observational techniques, researchers have found interactions between mothers and their facially deformed infants to be at some increased risk for relational 58 Joanna Kossewska

problems. Field and Vega-Lahr (1984) found that in face-to-face interaction mothers o f infants with anomalies smiled, vocalized, and imitated their infants less frequently than mothers o f normal infants did. They also spent less time playing games and showed less contingent responsiveness. Although both groups o f mothers gazed at their infants an equal amount o f time, infants with craniofacial anomalies returned their mother’s gaze less often than comparison infants. They also spent less time smiling and vocalizing than normal infants did. Infants with craniofacial anomalies also consistently demonstrated less positive and more negative behaviors than comparison infants. For example, they touched their mothers less frequently, averted their heads and bodies from their mother more frequently, and were less likely to smile or laugh than comparison infants. It could be concluded that infants with craniofacial anomalies tend to present fewer social cues during interactions with their mothers and may be more difficult and less competent behaviorally than infants with no anomalies (Barden et al. 1989). On the other hand, they might retrieve the negative emotion expressed by the mother in an unconscious and involuntary way in the process o f microexpression (Trzebińska 2001) Mothers o f these infants seem to be somewhat more directive and less respon­ sive during interactions with their infants. Researches do not show that facially de­ formed infants are to be at a greater risk for insecure attachment than control infants; however, it could be seemed that TCS might be a strong condition.

Medical treatment and its psychological consequences

Apart from the psychological and social stigma associated with severe facial deformity, Treacher Collins syndrome itself consists in major anatomical and physi­ ological abnormalities, which makes it one o f the most challenging reconstructive problems presented to the craniofacial surgeon. Medical problems o f TCS are usu­ ally treated by complicated and multispecialized treatment during which children experience different negative feelings as insecurity, pain, or hopelessness. Treatment o f the hard and soft tissues o f the face may require a number o f surgical interven­ tions. Around 3 years o f age, the weak cheeks and sagging lower eyelids may be augmented and reconstructed. The child’s own bone may be used for this, along with naturally occurring bone substitutes. Bone is usually taken from the skull to build the cheekbones. I f needed, the mandible (jaw) may be lengthened through distraction osteogenesis or through a combination o f surgical osteotomies with bone/cartilage grafts. This is usually done when the child is 4 -5 years old or sooner, if it is needed to prevent or facilitate removal o f a tracheostomy. External ear deformities are ad­ dressed between 5 -7 years o f age, although hearing aids must be placed within the Psychosocial development of children with Treacher Collins Syndrome 59 first year if needed. Additional procedures may be necessary as the child grows and reaches adolescence (Argenta, Iacobucci 1989) Early experiences o f pain related to each long-term disease have serious con­ sequences for development, however pain could be generalized and further more it could influence the self-concept (Pilecka 2002). Although children and adolescents with TCS suffer from pain and other negative emotions throughout their life span, considering the wide range o f medical issues to be experienced by them, they are less likely to experience somatic complains in comparison to normative ranges (Pope, Snyder 2004). Medical treatment leads not only to vulnerability but also has a positive im­ pact on personal development. Arndt et al. (1987) conducted a longitudinal study on twenty preadolescent children with Treacher Collins syndrome. A psychosocial team interviewed the children and their parents 6 months before and 1, 2, 3 and 4 years after craniofacial reconstruction. Many different variables were measured as children’s facial appearance, intellectual ability, self-esteem and adaptive function­ ing. The findings indicate that while children’s intellectual ability was unchanged, their appearance, self-esteem and adaptive functioning improved, peaking 1 year postoperatively and leveling o ff at the 2- and 4-year postoperative assessments. The improvement in the patients’ facial appearance seems to have a direct, positive influ­ ence, creating psychosocial and social benefits for them. Another experiment investigating whether the physical attractiveness o f craniofacially deformed children and adolescents could be improved by surgical procedures was done by Barden et al. (1988a, 1988b). The samples were larger and more differentiated than in the previously mentioned survey. Children from infancy till adolescence were randomly selected from patient files. Patient diagnoses included facial clefts, hypertelorism, Treacher Collins syndrome, and craniofacial dysostosis (Crouzon’s and Apert’s syndromes). Rigorously standardized photographs o f patients taken before and after surgery were shown to ‘naive’ raters ranging in age from adolescence to late adulthood. Raters were asked to predict their emotional and behavioral responses to the patients as well as to assess their global physical attractiveness. The results showed firstly that observers’ behavioral reactions to facially deformed children and adolescents would be more positive following craniofacial surgery. Secondly, the ratings indicated that observers’ emotional reactions to deformed children would be more positive following surgery. Thirdly, the ratings indicated that the children’s physical attractiveness was in 62 percent improved following the surgery. Authors concluded that untreated craniofacial patients might be at risk for psychosocial disorders because o f the importance o f physical appearance for the development o f cognitive and social-emotional competence in contemporary society. Surgery treatment is a very effective way to reduce the social stigma. Emotional states seemed to be a mediating process in explaining the effects o f attractiveness and facial deformity on the quality o f social interactions. 60 Joanna Kossewska

Psychosocial adjustment

Despite the fact that only few children with CFA (craniofacial abnormalities) experience any significant behavior problems, craniofacial anomaly is considered to be a risk factor and predictor o f some kind o f specific adjustment problems. Early attachment difficulties as well as the quality o f parenting in infancy might be also expected to be predictive o f later conduct problems (Belsky et al. 1998). The pattern o f decreased reinforcement for social behaviors on the part o f both the mother and infant may lead to a cycle o f decreased responsiveness and inter­ activity that weakens the attachment and leads to some specific pattern o f malad­ justment. Such pattern could be found in some young children and adolescents with CFA. A large survey was done by Speltz et al (1993) to find the predictors o f be­ havioral problems in children with craniofacial abnormalities as: cleft lip and palate (CLP), isolated cleft palate (CP), and sagittal synostosis. Individual differences in child functioning and behavior problems were predicted by observational measures o f earlier mother-infant interaction during play and teaching situations. Twenty-three mothers and their 5- to 7-year-old children with CFA who were assessed during the child’s infancy were followed. Measures of child status focused on behavior-prob­ lem frequency and self-concept. Mothers completed self-report measures o f emo­ tional well-being, marital satisfaction, and social support. Although only a sizeable minority (18%) of the children with CFA had clinically significant behavior-prob­ lem scores shown in concordant reports by parent and teacher, another study (Pope, Snyder 2004) found some types o f psychosocial problems more frequent, however at subclinical level. In the largest to date study reported for the adjustment o f children with CFA (in­ cluding TCS) done by Pope and Snyder (2004), it was found that there is decreased risk o f externalizing problems in early childhood and pre-adolescence in comparison to normative rates. Internalizing problems were more frequent. According to the authors, children with CFA are at risk for some types o f psychosocial problems, however experienced not at clinical level. But even slight psychosocial problems accumulating in a long period o f time could exceed the fragile boundary between proper adjustment and pathology. Although psychosocial problems were found at subclinical level, high rates o f social problems and deficits in social competence were seen regardless o f the age and gender. Social skill deficits in CFA are related to difficulty in initiating and maintaining peer interactions. In another study, testing adolescents with only TCS by qualitative method (Beaune, Forrest, Keith 2004), a good psychosocial adjustment was observed, and experiencing an increasing acceptance o f self, TCS, and social acceptance over time. What are the basic conditions related to self-acceptance? The authors found that adolescents with TCS used resilient adaptive strategies (optimism, motivation, and Psychosocial development of children with Treacher Collins Syndrome 61 positive meaning making). They were, however, also challenged by the social stigma associated with difference, and by the challenges o f finding a good fit in their school environments in meeting unique needs, particularly in their early grades. Although living and growing up with TCS means unique experiences for each o f the partici­ pants, common themes emerged across the survey. The core themes o f balancing sameness and difference and the journey o f self- and social acceptance illuminated the ways in which adolescents experienced and constructed meanings o f living and growing up with TCS. They described that being an adolescent with TCS is similar to being like many other teens. They enjoyed having close friendships and family relationships and described themselves as active hard workers at school and plan­ ners for their future careers. However, having TCS was also experienced as a dual struggle between feeling the same as others while also being different from others. According to Beaune et al. (2004), going towards self-acceptance in adolescents with TCS is possible when the experience is based on five different patterns: 1. Reconstructing perceptions of others - Most o f the adolescents were devel­ oping a positive sense o f their self-worth and competencies, despite being viewed negatively by others. They described a process o f recognizing that as their peers got older, they were able to move past negative attitudes towards their difference and to become more accepting. Some referred to this as accepting diversity and as not being so focused on individual differences. 2. M aking meaning of the difference - The adolescents mentioned that they were also becoming more accepting o f themselves and their TCS, in essence they were constructing new meanings about themselves. They also began to recognize the importance o f accepting support from others rather than experiencing helping behaviors as negative or overt signs o f being different from their peers. Hearing aids, speech therapy, and specialized instruction from teachers were gradually recognized as helpful interventions that led to positive outcomes. 3. Form ing friendships and fitting in - Adolescents with TCS, like others, made and maintained close friendships. Forming friendships during early childhood was sometimes described as challenging difference. To make friends, some adolescents had formed friendships in early childhood with peers that also had a difference, but they were also interested in finding friends who had similar interests or temperaments. Forming friendships was also made possible by helping their peers overcome initial negative judgments, demonstrating their competencies (especially intelligence or athletics), and being friendly. Dating, marriage, and having a family were identified as part o f their social expectations, with one exception (who perceived himself as having very low romantic appeal). Most o f the older adolescents were currently dating or had dated, and younger adolescents commented on having opposite-sex friendships. Most o f the adolescents spend a large portion o f their time outside school with their siblings, parents, or close friend(s) and did not describe being involved in organized community activities or extracurricular activities at school, which 62 Joanna Kossewska may reflect some type o f self- and/or other-imposed barriers about social confidence and inclusion. 4. Handling staring and teasing - Adolescents described ways o f dealing with overt and subtle social interactions with others that were not comfortable for them, mostly being stared at or teased. They moved from more negatively based response strategies that they used primarily in early childhood (such as fighting, verbal retali­ ations like name calling or teasing, avoiding, or withdrawing) to more positive and assertive strategies in adolescence (such as ignoring the teaser; initiating a conver­ sation or positive response; confronting; educating/informing others about TCS, or related effects o f TCS like hearing loss; or reframing the meaning o f negative inter­ actions). For example, staring or teasing by younger children was now reconstructed as curiosity, which was experienced as a non- or less harmful interaction. 5. Excelling - Adolescents described positive intrapersonal and social-ecologi­ cal factors that contributed to their adaptation and well-being. The internal motiva­ tion to push themselves to excel in areas such as being more social; winning or excelling at sports; getting high marks at school; going on to college or a university; or having a good career such as becoming a doctor/nurse, an advocate, a coach, or a specialized computer expert was a common intrapersonal trait o f adolescents with TCS. Being motivated resulted in participants’ setting high standards or goals for themselves as an adaptive strategy to minimize their differences from their peers, highlight their competencies, and develop a successful life pathway. This strategy o f ‘compensation’ is related to a defensive-adaptive coping mechanism that children with physical differences engage in to symbolically repair/protect his/her ‘different self. However, this strategy may also have several downsides, including excessive pressure, setting unrealistic expectations, and the fear o f failure, which requires or may result in additional energies and stresses. What are the predictors o f good adjustment and well-being in adolescents with TCS? There are very few studies that would give the final answer, although social support seems to play an important role. In a study by Beaune and colleagues (1999), it was found that support and encouragement from parents and siblings and, in some cases, friends, teachers, principals, adult mentors, people o f religious faith, and doc­ tors were credited for nurturing positive adjustment in adolescents with TSC. This result is similar to findings based on the survey on preadolescents with different CFA. Pope and Ward (1997) tried to identify aspects o f psychosocial adjustment related to the self-perceived facial appearance o f preadolescents with craniofacial abnormalities in a group o f 24 preadolescents aged 11 to 13 patients o f a major craniofacial centre. They found that global self-worth as well as self-perceived social acceptance were positively correlated with self-perceived facial appearance, which was in posi­ tive relation to the number o f same-sex close friends, and negatively correlated with loneliness. Psychosocial development of children with Treacher Collins Syndrome 63

Cognitive development

Although studies show that children with TCS have normal intelligence in gen­ eral learning, speech difficulties may also occur, depending on the degree o f con­ ductive hearing loss common in the syndrome. Intelligence is usually within normal limits, although learning disabilities are common in early life (Argenta, Iacobucci 1989). Fairly high incidence o f learning disabilities (L D ) in children with CFA was found by Broder et al. (1998), who exposed that children with a cleft are at risk for learning disability, low school achievement, and grade retention. The authors com­ pared intelligence in two groups: cleft palate only vs. cleft lip and palate. The results revealed that 46% o f subjects with cleft had learning disabilities, 47% had deficient educational progress, and 27% had repeated a grade in school. Males with cleft pal­ ate only (CPO) had a significantly higher rate o f L D than any other subject group. Males with CPO and females with cleft lip and palate (CLP) were more likely to repeat a grade in school than were females with CPO and males with CLP. Richman (1980) in his longitudinal work with children who had CLP or CP found that preschool children (ages 4 to 5) demonstrated significant delays in devel­ opment across language, vocabulary, memory, and visual-motor skills, regardless o f diagnosis. Mean scores for the children by ages 7 to 8 had improved to the normal range for all children, except for male children with CP. These male children contin­ ued to demonstrate significant language delay. The longitudinal analysis o f mental development by infants with orofacial clefts was conducted by Kapp-Simon and Krueckeberg (2000). There has been a slightly increased rate o f retardation reported in older children with CLP over time. Children with all forms o f CLP are at greater risk than the general population for learning disabilities, which are manifest during elementary school years. Although most clefts are nonsyndromic, meaning that they occur in the absence o f other malformations and/or significant impairment o f the central nervous system (Collett, Speltz 2006), they influence the cognitive development in a very important way. The influence o f TCS might be even more massive because it is connected with more differentiated problems, although there is still a lack o f well-controlled research in this area. The most specific mental problem in children with CFA is attention deficit (Pope et al. 1999). An interesting research in this field was conducted by Pope and colleagues (1999). Age groups were assessed (2-3 years olds, 4-11 years olds, and 12-18 years olds), which showed that significant problems varied by age and gender. The heightened risk o f attention deficits was found, as well as high rates o f social problems and deficits in social competence. That is the evidence that facial disfigure­ ment is considered to be largely a social disability, because some o f children with 64 Joanna Kossewska

CFA may have social skill deficits, including difficulty in initiating and maintaining peer interaction, which may exacerbate their estrangement from others. Learning disabilities can potentially create a significant social stigma for the child. As it could be predicted, specific developmental trajectories are due to the above- mentioned congenital deformities that result in special developmental conditions.

Parental stress

The early phases o f psychosocial development o f the children with TCS might be associated with parental reactions o f disbelief, panic and fear, found in parents o f disabled children (Koscielska 1998) as well as in the case o f facial hemangiomas (Tanner et al. 1998), however in this case the physical appearance at birth is un- flawed, but quickly becomes abnormal. The general adaptation o f parents to the birth o f an infant with a congenital mal­ formation has been quite well-described, though there are no studies o f parents with the children with TCS. The survey by Drotar and colleagues (1975) was conducted to determine the course o f parental reactions to the birth o f a child with a congenital malformation and the process o f parental attachment. The qualitative analysis o f the interviews done with parents showed that despite the wide variation o f malformation, they demonstrated five stages o f parental reactions-shock, denial, sadness and anger, adaptation, and reorganization. For the parental extremely deep negative feelings, early crisis counseling should be taken in the first months o f child’s life. This coun­ seling may be particularly crucial in parental attachment and adjustment o f the mal­ formed child, because mothers o f children with craniofacial anomalies CLP reported less favorable social support than mothers o f children with isolated cleft palate CP or sagittal synostosis (Speltz, el. al. 1993). Tanner and colleagues (1998) found that disbelief was common, in part because o f the postnatal onset. Another common reaction was the sense o f loss o f the imag­ ined child. A notion o f flawed beauty was widely reported in connection with feel­ ings o f grief, loss, and a narcissistic wound felt keenly by several o f the parent(s). Guilt or self-blame was described by many parents. These parents spoke o f feeling personally responsible for causing the deformities, speculating that actions such as food eaten, drugs or alcohol ingested, or even forbidden thoughts they might have had could be the cause. Several parents also expressed a sense o f personal shame, that the hemangioma might be interpreted as reflecting something intrinsically wrong with them as parents. These parents were particularly sensitive to the critical com­ ments or actions o f strangers, including the (often-innocent) presumption that the child had suffered some external trauma. Many parents expressed a sense o f aloneness with the problem. This sense o f isolation was also dependent on other factors, including the outside support (or lack thereof), particularly from family and physicians. Psychosocial development of children with Treacher Collins Syndrome 65

Parents reported also their own sense o f acceptance. It was in large part depend­ ent on the stage o f the deformity and its aesthetic impact. This factor was related to the support offered the parents by their own parents and extended family. Distinct from acceptance was habituation. Several parents whose child’s hemangioma was beyond the growth phase commented that they ‘stopped seeing it’ or that it came to seem insignificant. A longitudinal study o f parenting stress by parents o f children with craniofacial anomalies was carried out by Pope, Tillman and Snyder (2004). Parents o f 47 children were assessed in children’s infancy and early childhood. The authors found that, in relation to norms, more parents o f children with CFA experience high level o f stress, but parenting stress during infancy period would have a fairly limited impact on toddler period, if it decreased over time (in desisters parents). On the contrary, a stable level o f high parenting stress during infancy and in toddlerhood was associated with maladjustment in toddlerhood beyond the effects o f age, gender or parents’ race. Children o f these parents (persisters) showed higher levels o f maladjustment on internalizing, externalizing, as well as general problems. Parents who maintained a high level o f stress from their children’s infancy into toddlerhood were disappointed in their children and felt their children were not meeting their expectations. That shows that parents who are unable to accept the child and his/her birth defect experience higher stress, followed by child’s maladjustment. Social and family support is the main factor reducing mother’s stress. St John, Pai, Belfer and M ulliken (2003) studied the consequences o f bringing up a child with craniofacial malformation. The purpose o f this study was to determine rates o f divorce in parents o f children with various types o f craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to 400 parents o f all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child’s facial anomaly contributed to divorce, and involvement in the child’s welfare. Using deformational posterior plagiocephaly as a control group, rates o f divorce vs. non­ divorce were compared for craniofacial anomalies, categorized as asymmetric (hemi­ facial microsomia, unilateral coronal synostosis, cleft lip, cleft lip/palate) or symmet­ ric (syndromic-craniosynostosis, orbital hypertelorism, Treacher Collins syndrome). Major anomalies (hemifacial microsomia, craniosynostosis, orbital hypertelorism, Treacher Collins syndrome) were also compared to minor anomalies (cleft lip, cleft lip/palate). Two-sided Fisher exact test comparing control vs. all other anomalies showed significance (p=.030) for rates o f divorce. Frequency analysis demonstrated an overall divorce rate o f 6.8% and 4.9% separation. Separation o f anomalies into asymmetric vs. symmetric and major vs. minor categories demonstrated no signifi­ cant difference in divorce rate (p>.05). Anomalies associated with the highest rate of divorce were hemifacial microsomia (24.0%), syndromic craniosynostosis (12.2%), and cleft lip/palate (6.8% ). Treacher Collins syndrome, as one o f massive deformi­ ties, was not per se the predictor of marital dispersal. What factor could protect parents o f deformed children from break-up? 79% o f non-divorced couples reported 66 Joanna Kossewska

a strong prenatal relationship, whereas 59% o f divorced couples reported a problem­ atic relationship. Following birth o f the affected child, 47% o f non-divorced couples responded that the bonds became stronger and 41% o f divorced couples thought the relationship worsened. After break-up, the mother was more likely to become the child’s primary caregiver, which is another stressful event both for the mother and the child. The reaction o f the public in the contact with children with TCS might be a constant reminder o f either the hemangioma or facial deformities, and in Tanner’s (1998) research it was described as a major stress for the parents. These reactions, which typically occurred in the grocery stores, check-out lines, restaurants, and pub­ lic parks, included stares, whispers, startles, inquiries, insensitive remarks, rude ex­ clamations, looks o f pity, questions about causality (especially re: trauma, infection, cancer, or a bum), and unsolicited advice or urging to have the lesion treated. In all cases where the hemangioma remained quite visible, parents spoke o f such public reactions as being daily experiences. Such reactions evoked a broad range o f feelings in parents, most commonly anger, hurt, a sense o f aloneness, and helplessness. A sense o f loss o f anonymity could be also experienced. Goffman and MacGregor have both written o f the 'civil inattention’ that is normally conferred by strangers on one another that makes it possible to move anonymously and unhindered in public places. Accusations o f child abuse might be next possible public reaction. Children might be particularly singled out as reacting strongly to the facial malformation, with negative statements such as ‘he looks ugly’, which makes them develop nega­ tive self-perception, the lower self-esteem, and isolates them from peers (Pope et al. in press). CFA in general and TCS in particular could be understood as a social disability, because children appear to overcome the stigma o f different facial appear­ ance stemming from social and peer negative response to them.

Although Treacher Collins Syndrome (TCS) is a rare and very complex genetic condition involving underdevelopment o f the structures o f the head and face, it influ­ ences the psychosocial development very strongly. There is a strong need to develop the support system for families with children with TCS, which w ill integrate multispecialized activities on microsystem, exosys­ tem, mesosystem as well as macrosystem. The craniofacial abnormalities lead at first to specific image and health problems o f the affected child, being the prerequisite o f insecure attachment pattern, which might be the background for the developmental psychopathology. Child’s lower attractiveness is the important factor for mother-child interaction as well as mother specific rearing strategies and stress. More parents experience high level o f parenting stress during infancy period, so infancy is the most important de­ velopmental stage to support parents (mothers) as well as teach them the appropriate coping strategies. Psychosocial development of children with Treacher Collins Syndrome 67

Children and adolescents with TCS are exposed to internalizing problems, which could also lead to strong psychopathology, e.g. depression. Support treatment towards self-acceptance might be useful and effective if it is based on a multifaceted pattern.

References

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Psychospołeczny rozwój dzieci z zespołem Treacher Collinsa

Streszczenie

Dyzostoza żuchwowo-twarzowa, inaczej zespół Treacher Collinsa (TCS) jest rzadką i bardzo złożoną chorobą o podłożu genetycznym, charakteryzującą się niedorozwojem twa- rzoczaszki. TCS dziedziczony jest w sposób autosomalny dominujący ze zmienną ekspresją. Około 40% osób, u których zdiagnozowano TCS, odziedziczyło chorobę po jednym z rodzi­ ców, natomiast około 60% choruje w wyniku mutacji genu de novo, tj. innej w każdej rodzi­ nie. Szacuje się, że TCS występuje w 1 przypadku na 10 000 do 50 000 żywych urodzeń. Zespół Treacher Callinsa stanowi nie tylko problem medyczny, ale także zagadnienie wymagające współpracy wielu specjalistów, ze względu na różnorodność trudności, jakich doświadcza chore dziecko. Chociaż wadliwy gen został już odkryty, a w dziedzinie genetyki przeprowadzono wiele badań, konieczne wydają się intensywne działania interdyscyplinarne­ go zespołu (genetyk, chirurg, psycholog, foniatra, logopeda, pedagog specjalny, rehabilitant, itd.), aby móc lepiej zrozumieć mechanizm rozwoju i psychospołecznego przystosowania dzieci z TCS oraz skutecznie je wspierać. Interdyscyplinarne badania mogłyby pogłębić naszą wiedzę o mechanizmach odpowiedzialnych za proces radzenia sobie i dobre samopoczucie. W artykule przedstawiono przegląd współczesnych badań poświęconych psychologicz­ nym aspektom rozwoju dzieci z TCS oraz omówiono różnorodne czynniki psychospołeczne mające istotne znaczenie dla ich przystosowania i funkcjonowania, a także wskazano możli­ wości wspierania rodziny.