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Psychosocial Development of Children with Treacher Collins Syndrome

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Psychosocial Development of Children with Treacher Collins Syndrome 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).
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