Treacher Collins Syndrome and Its Affects on Speech and Hearing

By April Liehr

The University of Texas at Austin

October 19, 1999

CSD 371 - Introduction to Speech Disorders

Assessment & Intervention

Professor: S. Doss

Introduction

Treacher Collins syndrome (TCS, also called mandibulofacial dysostosis and Franceschetti-Klein Syndrome) is a genetic condition involving underdevelopment of the structures of the head and face caused by a mutation in the genes on chromosome 5 (FACES, September 8, 1999). Occurring in at least 1 in every 10,000 live births (Reich, 1996), TCS can either occur as a spontaneous genetic mutation or it can be inherited from one parent who has TCS. An individual who is affected by TCS has a 50% chance of passing this genetic condition to offspring. However, inherited TCS only accounts for approximately 40% of the cases. The other 60% of TCS cases cannot be attributed to any apparent cause, and result from parents without any family history of the condition (NORD, 1998). These cases seem to occur randomly and sporadically in the very early stages of fetal development. As of yet, no link has been made between an unaffected mother’s activities and the development of this rare genetic condition.

The physical characteristics associated with TCS vary greatly in severity from one individual to another. However, these characteristics are all very distinctive abnormalities involving the head, facial, and craniofacial areas due to underdevelopment of certain portions of the skull (see Appendix A, Figure 1). Characteristics may include underdeveloped or absent cheek (malar) bones; an incompletely developed, abnormally small lower jaw; an unusually large mouth; malformations of the palate; and/or dental abnormalities such as misaligned teeth. It is also common to have underdeveloped and/or malformed outer ears with blind ending or absent external ear canals (atresia), resulting in a conductive hearing loss. In addition, infants with TCS may have abnormally downward slanted openings between the upper and lower eyelids, partial or total absence of tissue from the outer third of the lower eyelids, and/or additional eye abnormalities, resulting in varying degrees of visual impairment in some cases.

TCS and Hearing Impairment

As evident from the previous list of possible characteristics, there are many factors involved in an individual affected by TCS. In addition, each of these factors is present in an individual with TCS to a different degree. It is certainly possible for an individual to have TCS and not be aware of that fact. On the other hand, it is also possible for an individual to be severely affected by all of the above-mentioned characteristic abnormalities. These individuals face many challenges already from the time of birth. It is not uncommon for these children to need a tracheotomy just to survive the first few days of life. Needless to say, speech development is greatly influenced by the presence of the tracheotomy, not to mention a possible malocclusion, diminished jaw, cleft palate, and hearing impairment.

However, in addressing the effects that TCS has on an individual’s life and speech, it is appropriate to observe the characteristics that are most prevalent among those affected by TCS. There are no substantiated figures that address this issue; however, input from the TCS community (Osborn, A., 1999) points toward hearing impairment as both prevalent in TCS and influential in speech development. One parent of a child with TCS contributed that her child’s speech is different, and she can only attribute this deviance to his hearing impairment resulting from TCS. Another parent who has TCS herself did not know there were any other characteristics of TCS other than hearing impairment before having her own child (Osborn, K., 1999).

Thus, the presence and extent of a speech problem in individuals with TCS is greatly influenced by the type and degree of hearing loss. Fundamental to the understanding of the hearing loss is an investigation into its pathology. The abnormalities of the mandible associated with TCS are linked to the hearing loss by the shared embryological origin of the mandible, malleus, and incus (Schuknecht, 1974). These structures all originate from the first branchial arch, of which there is some degree of embryological underdevelopment associated with TCS. This underdevelopment lends way to a wide range of outer and middle ear malformations, anywhere from nearly undetectable abnormalities of the pinna and/or external auditory canal to fusion of the middle ear mechanism. In the more severe cases, there is a complete absence of an outer ear (pinna) as well as a complete occlusion of the external auditory canal. In this condition, referred to as atresia, it is possible to use X-ray studies to determine whether the middle ear mechanism is present at all and what state it is in. More commonly, FACES (1999) states that most children with TCS have a 40% bilateral conductive hearing loss due to abnormalities of the outer and middle ear.

Affects of a Conductive Hearing Loss on Speech

In her discussion on the impact of hearing impairment, Jamieson (1994) makes an important observation. She states, "Hearing loss acts in combination with other developmentally and psychosocially significant variables to produce different outcomes in different individuals" (p. 596). This statement must certainly be kept in the forefront of any discussion on TCS since the hearing impairment in TCS is complicated by the myriad of possible combinations of malformations that may also be present. Just the hearing loss by itself, however, presents some important issues for speech development, especially when one considers that the vocalizations of infants with hearing impairment are already affected both in quality and quantity as early as the first few months of life (Jamieson, 1994).

Atchley (1984) outlines several factors that affect the development of speech in children with a hearing impairment. The first of these factors has already been mentioned, and that is the degree of hearing loss. This is an important factor, as well as the hearing thresholds with the use of a hearing aid, because it influences the speech therapy techniques used with a child. For some children, the use of a hearing aid will result in aided hearing thresholds well within the limits of normal conversational levels of speech. However, this result is not always accomplished, and speech therapy may need to incorporate other techniques such as lip reading and greater use of the tactile sense for articulation.

A second factor that affects the development of speech in children is early and consistent use of amplification (Atchley, 1984). The choice of a communication method should not be left for too long. Proper amplification increases the effectiveness of speech training by providing the child with proper auditory feedback and constant auditory speech stimuli. It is important for children to be stimulated by speech produced by others and vocalizations produced by themselves (Ling, 1984). This encourages vocal play in children as they learn how to use their articulators to produce different sounds. Constant exposure to speech stimuli also helps the child to achieve higher language abilities. This is another factor that greatly increases the effectiveness of time spent in speech therapy because it allows for the appropriate usage of verbal explanations.

Finally, motivation levels are a key factor in the development of speech in children (Atchley, 1984). This includes not only the motivation of the child, but also the motivation of all parties involved in the child’s daily life. The interest and involvement of the parents in the child’s speech progress significantly enhances the results of speech therapy. In addition, the importance placed on speech and auditory skills by a parent affects the child’s entire attitude toward these modes of communication. Ling (1984) states, "When children are not given language at an appropriate age, they are being shown that it is not important and are learning to do without it" (p. 5). Therefore, not only do parents provide moral support, but they also provide informal speech therapy on a continual basis outside of formal therapy sessions.

Thus, taking all these factors into consideration, Ling and Milne (1981) state that "clear, fluent speech is a realistic goal for most hearing-impaired children" (p. 107). By comparing seven profoundly hearing-impaired children who began a speech therapy program at an early age to normal-hearing children, Ling and Milne (1981) were able to make some conclusions about previous approaches to speech therapy for children with a hearing impairment. They found that the characteristic errors previously associated with hearing-impaired speech (i.e., poor voice quality, prolongation, neutralization or diphthongization of vowels, intrusive voicing, nasalization, and voiced/voiceless errors) were not pervasive in the spontaneous speech samples of the seven hearing-impaired children in this study. They attribute this to the adequate selection and appropriate use of speech development strategies for these children.

In addition to casting away previous stereotypes about the potential of hearing-impaired speech, Ling and Milne (1981) were able to indicate directions that could have been taken in speech therapy for the seven children in order to further improve their speech skills and intelligibility. First, more attention could have been given to suprasegmental features such as intonation, stress, rhythm, and voice pitch. These were the main factors that differentiated the hearing-impaired children from the normal-hearing children when judged for intelligibility. Second, there was a high correlation between vowel production and intelligibility in children with a hearing impairment. Therefore, vowels and diphthongs were identified as primary speech targets at the segmental level. Finally, the children with a hearing impairment scored consistently lower on the phonologic level evaluations than they did on the phonetic level evaluations. Thus, more attention could have been given to evoking and rehearsing sound patterns accurately, rapidly, and with economy of effort and flexibility.

In conclusion, the results of the previous study suggest that children with a hearing impairment can achieve a far more successful ability to interact through the use of spoken language than was previously thought. In order to achieve this goal, it is imperative that early intervention strategies take place, both in amplification and speech therapy. In addition, both the quantity and quality of speech therapy are important to the development of speech. Adequate and appropriate goals for therapy are crucial to the individualized treatment of the child with a hearing impairment.

Case Study: Amie

Amie is a remarkable example of the essence of life with Treacher Collins syndrome. Her history is filled with challenges that began from the moment she was born, and to this day she continues to rise above them. In addition, Amie’s support network (namely her parents) has positively influenced her auditory and speech development by employing strategies that are now known to be successful in the development of children with hearing impairment.

Amie is among the 40% reported cases with inherited TCS. Both her grandfather and mother are affected by TCS, although to a milder degree (see Appendix B, Figure 2). When Amie was born, she was immediately intubated and put on a ventilator because of respiratory problems. Four days later, Amie received a tracheotomy in order to compensate for her respiratory problems and to allow her to be taken off the ventilator. In addition to her breathing difficulties, Amie was also born with a cleft of both the soft and hard palates that presented feeding difficulties. Much effort went into providing Amie with enough nutrients for growth.

Second to these critical factors for survival, Amie’s hearing was addressed. Amie was born with bilateral atresia, meaning that her external auditory canals are completely occluded in both ears. It has still not been determined what condition her middle ear mechanism is in, or whether Amie has a middle ear mechanism at all. In addition, Amie had a condition of the outer ear known as microtia. This means that the pinna of both her ears is severely reduced in size. The malformations of her outer and middle ear resulted in a 60-70 dB conductive bilateral hearing loss (Osborn, K., 1999).

Therefore, fitting Amie with a hearing aid posed quite a challenge. Amie needed a bone conduction oscillator in order to hear speech at conversational levels. However, she did not have an outer ear structure sufficient to support a hearing aid mechanism. Therefore, Amie needed a bone conduction hearing aid that used a headband to fit the device securely to her head (see Appendix B, Figure 3). This device could not be fitted on Amie until she was at least 18 months old. This was due to the fact that the constant pressure created by the headband posed a risk for indentation of her soft skull.

Even after Amie was fitted with the hearing aid at 18 months (see Appendix B, Figure 1), it was necessary to remove the hearing aid at times to alleviate the pressure caused by the headband. Fortunately, Amie’s parents realized the importance of providing her with normal and continual speech sounds from a young age. Therefore, in addition to yelling in order to expose Amie to their speech and include her in their daily conversation, Amie’s parents used to play a radio near her with the volume raised to a sufficient level for Amie to hear. As discussed earlier, this early exposure to speech sounds was imperative to the speech development process.

Amie demonstrated a high level of language ability from a young age. At 8 months, she already had a sign vocabulary of 50-60 words. Note that this sign vocabulary preceded the use of any hearing amplification. At 18 months, in addition to being fitted with a hearing aid, Amie also underwent surgery to repair her hard cleft palate. The soft cleft palate was to remain until a future surgery date. At this time, Amie began speech therapy sessions one to two times per week. The goal of speech therapy was to reacquaint Amie with her surgically repaired articulator (namely her hard palate), and to promote proper speech production from an early age.

All of these developments that took place in her infancy set the stage for Amie to really begin to communicate verbally with speech. By age two, Amie’s speech was beginning to emerge at a much more frequent rate. Once again, the ingenuity and continual involvement of Amie’s parents paid off for her speech development. Amie’s doctors had used an infant-sized tube for her tracheotomy because of both its size and pliability benefits for a young child. However, this tube did not have any means for creating a closure to aid in the production of speech. Therefore, Amie’s parents devised a plug for the tube that could be easily removed by either Amie or her parents when needed (i.e., for suctioning and for sleeping at night). Most importantly, the plug helped create a more efficient air flow necessary for comfortable speech production.

The following years of Amie’s life were riddled with surgeries aimed at correcting some of her craniofacial abnormalities. First and foremost, when Amie was four years old, her surgeons focused their attention on the reconstruction of her soft cleft palate. Then when she was nine years old, there was an attempt at mandibular advancement surgery. Unfortunately, this procedure failed due to infection. When Amie was fifteen years old, the procedure for mandibular advancement was repeated. This time the surgeons were successful in achieving their goal. Finally at sixteen years of age, Amie’s tracheotomy tube was removed, but only after much experimentation. She still needed some kind of device to aid her breathing during sleep. For this purpose, her doctors were able to utilize a Continuous Positive Air Pressure (CPAP) machine. The last surgery that Amie underwent was facial reconstruction surgery at seventeen years of age.

Even though Amie’s parents focused a lot of time and effort toward the development of her auditory and speech abilities, they also understood that much of Amie’s success would depend on her outlook. Therefore, similar to the outline presented previously by Atchley (1984) in which parents are encouraged to set the pace for their child’s attitude toward audition and speech, Amie’s parents set up a positive and supportive environment for her. However, the rest was up to Amie. Her mother summed up the situation when she stated, "Amie was different, and how well she was to be accepted by those around her had to be set up by how well she accepted herself" (Osborn, K., 1999, p. 1).

Case Study: Candice

Candice is also among the 40% reported cases with inherited TCS. In addition to Candice, her uncle has been positively diagnosed with TCS. Unfortunately, he did not receive adequate speech assessment or therapy, probably due to lack of knowledge and information available at the time concerning TCS as well as the lack of amplification for his hearing loss. Therefore, as an adult, his speech is highly unintelligible.

On the other hand, Candice and her family took advantage of the many opportunities that were available to enhance the development of her speech ability. For instance, Candice worked closely with a speech pathologist for eighteen years. In addition, Candice was integrated into kindergarten at two years of age in order to expose her to normal speech stimuli. The goal of all of these early intervention strategies was to enhance Candice’s auditory and speech skills.

Candice’s development of speech has been greatly affected by her hearing loss due to TCS. Even with amplification, she is unable to hear or consistently verbalize certain sounds including /k/, /s/, and /z/. Therefore, these sounds remain almost completely absent from Candice’s speech. Recently, a change in her amplification device has greatly improved Candice’s ability to hear these sounds. This development should have a positive affect on her speech production of these sounds in the future.

Candice’s life with TCS has been filled with many other obstacles. As a young nineteen-year old adult, she has already endured fifteen surgeries. These have included an attempt to create an external auditory canal, malar reconstruction, implantation of a bone-anchored hearing aid, as well as many other minor surgeries. She has already surmounted more medical obstacles than most people have to face in an entire lifetime. Yet, she has emerged through it all, and today finds herself to be an above average student despite the on-going challenge of her hearing impairment that continues to be a problem both at home and at school (Candice Prymak, email to author, September 23, 1999).

Summary

Treacher Collins syndrome is a genetic condition that manifests itself in individuals with various degrees of severity. However, one characteristic that seems to be prevalent among cases of TCS is varying degrees of underdevelopment of the outer and middle ear mechanisms. This underdevelopment results in a conductive hearing impairment that can have a great influence on the development of speech. However, there exists the potential for reaching high levels of speech intelligibility among children with a profound hearing impairment (Ling & Milne, 1981).

Finally, there are several factors that influence the development of intelligible speech among these children with a hearing impairment (Atchley, 1984). These include factors such as early intervention and amplification. As evidenced from the discussion of the case studies, the motivation level of parents can greatly influence the attitude of their child with TCS. In turn, the child’s positive attitude and outlook will better equip him to successfully confront the many obstacles that TCS will present in a lifetime.

References

Atchley, T. (1984). Taft Hearing Impaired School. In D. Ling (Ed.), Early Intervention for Hearing-Impaired Children: Total Communication Options (pp. 15-51). San Diego: College-Hill Press, Inc.

FACES: The National Craniofacial Association (September 8, 1999). Treacher Collins Syndrome [online]. Available: http://www.faces-cranio.org/Disord/Treacher.htm (September 15, 1999).

Jamieson, J. R. (1994). The Impact of Hearing Impairment. In J. Katz (Ed.), Handbook of Clinical Audiology (pp.596-615). Baltimore: Williams & Wilkins.

Ling, D. (1984). Early Total Communication Intervention: An Introduction. In D. Ling (Ed.), Early Intervention for Hearing-Impaired Children: Total Communication Options (pp. 1-14). San Diego: College-Hill Press, Inc.

Ling, D. & Milne, M. (1981). The Development of Speech in Hearing-Impaired Children. In Bess, F.H., Freeman, B.A., & Sinclair, J.S. (Eds.), Amplification in Education (pp. 98-108). Washington, DC: Alexander Graham Bell Association for the Deaf.

NORD: National Organization for Rare Disorders, Inc. (1998). Disease Information – Treacher Collins Syndrome [online]. Available: http://www.nord-rdb.com/~orphan. (September 15, 1999).

Osborn, A. (October 13, 1999). Reflections on Treacher Collins Syndrome [online]. Available: http://www.treachercollins.org (September 1, 1999).

Osborn, K. (October 13, 1999). Surgeries [online]. Available: http://www.treachercollins.org/surgery.html (September 1, 1999).

Reich, E. (1996). Frequency of Treacher Collins Syndrome. In Treacher Collins Foundation Newsletter [online]. Available: http://www.treachercollinsfnd.org/news96/freqtcs.htm (October 13, 1999).

Sargent, L. (1997). Treacher Collins Syndrome. In Craniofacial Surgery [online]. Available: http://www.erlanger.org/cranio/images/treachcoll.pdf (September 15, 1999).

Schuknecht, H.F. (1974). Pathology of the Ear. Cambridge, MA: Harvard Univ. Press.