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Deafness treatment in a case of Treacher Collins syndrome

Simona Serban
Institute of Phonoaudiology and Cophosurgery “ Prof. Dr. D. Hociota”, Bucharest, Romania

 

Correspondence 

Serban Simona, MD
IFACF-ORL, 21, Mihail Cioranu, 050751, Bucharest, Romania
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.

 

Abstract

Treacher Collins syndrome is either inherited or caused by a genetic mutation at the time of conception. The article presents the management of a case of Treacher Collins syndrome in a child with moderate facial dysmorphia and severe bilateral hearing loss. BAHA (bone anchored hearing aid) application is the best option to achieve normal communication and speech and language development in children with bilateral conductive hearing loss secondary to malformation of external ear and ossicular chain.

key words: Treacher Collins syndrome, facial dysmorphia, severe bilateral hearing loss, bone anchored hearing aid

 

Background 

Treacher Collins syndrome is a genetic disorder of chro- mosome 5 that causes birth defects of the head and face. Mutations in the TCOF1 gene cause the syndrome that affects about 1 in 50,000 individuals. Both males and females are affected. The specific physical symptoms of Treacher Collins syndrome may vary greatly from one individual to another and may range from barely noticeable to severe.

Symptoms may include:

 - underdeveloped or absent cheekbones

 - small jaws (micrognathia)

 - eyes that slant downward (palpebral fissures)

 - underdeveloped or malformed ears

 - hearing loss due to abnormal formation of the exter- nal and middle ear

 - breathing and/or eating problems due to the mouth and jaw defects

Treatment of Treacher Collins syndrome is focused on management or correction of the face and head malformations. The hearing rehabilitation uses in most of the cases the BAHA implant. This is a surgically implantable system for treatment of hearing loss that works through direct bone conduction [1]. It has been used since 1977 and was cleared by the Food and Drug Administration in 1996 as a treatment for conductive and mixed hearing losses in the United States, recommend for children older than 5 years of age [2]. Some clinicians prefer to approach two stage surgery for children implantation.

Case presentation

A female child was brought to the audiological service at 26months of age because of speech undevelopment and lack of responses to sounds. She was born of a full-term pregnancy with normal delivery. Her mother denied any illness or medication usage during gestation. No family history of Treacher Collins syndrome was recorded. The child has a peculiar face with mild ptosis of the upper eyelids and “anti-mongoloid” slant of the palpebral fissures ( fig 1).

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Figure 1: Face dysmorphia: anti-mongoloid eyes, underdeveloped chin 

The medial half of the lower eyelids was inverted and the lashes in that area were sparse. The horizontal portion of the mandible had developed normally, however, the chin was underdeveloped, and with the absence of a chin point in profile. The pinnas were asymmetric and a mild deformity of the right one was present ( fig 2). The orifices of the external meatus allowed visualization of the tympanic membrane through the external ear canal with moderate stenosis on both sides.

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Figure 2: Asymmetric ears, small external meatus orifices and underdeveloped chin 

The objective tests using acoustic immitance and auditory steady state responses (ASSR) in air and bone conduction showed severe conductive hearing loss bilaterally with bone conduction thresholds at 20 dB nHL at 1 kHz ( fig 3). Play audiometry was not possible because of the lack of collaboration with the child. A permanent glue ear was confirmed but the middle ear malformation was also suspected on both sides.

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Figure 3: Objective audiometry with bone conduction thresholds using ASSR technique 

The first step in the deafness treatment was the application of a bone anchored hearing aid with softband contention ( fig 4) because the traditional fitting by air conduction was not possible through the stenotic ear canals. The bone hearing aid processor ( fig 5) was applied on the right side and the volume control was set at minimum to avoid any strong auditory sensation to the child and risk of device rejection. The child began the speech therapy and two months later she was able to say several words. The surgery for the implant fixture will be made on a later date to avoid the failure of integration into the bone.

15 JPSS 8 1 2010-15 - 4 15 JPSS 8 1 2010-15 - 5
Figure 4: BAHA softband application behind the right ear Figure 5: Components of BAHA System from Entific

Discussion

Treacher Collins syndrome is not a frequent disease. Sometimes the expression of the disease is not complete therefore an early diagnosis in children is not possible. The sounds that babies hear in the first year are very important for the speech development therefore the hearing loss must be corrected as soon as possible.

The article presents a case with moderate facial dysmorphia without indication of reconstructive surgery but with moderate stenosis of the external ear canals and malformation of the middle ears that result in severe auditory deficit and lack of speech development. The BAHA application is the best option for deafness treatment in this case [3]. The softband usage is a temporary solution until the bone thickness will allow surgery for implantation. If the speech development of the child will not be satisfactory, a second BAHA provision on the left side will be recommended.

Conclusions

Surgical reconstruction of the ear canal and middle ear in children with malformation are often poor with different degree of restenosis of the ear canal and poor functional hearing. It has already been demonstrated that such children benefit significantly more from the BAHA than from reconstructive surgery especially in syndromic patients in whom it is known to be difficult and unpredictable. For the children with bilateral ear malformations the bone anchored hearing aid remains the only method to avoid auditory deprivation and speech delay.

 

 

References 

  1. Davids T, Gordon KA, Clutton D, Papsin BC. Bone-anchored hearing aids in infants and children younger than 5 years. Arch Oto HNS, 133(1) (January), 51-55, 2007
  2. Wazen JJ, Gupta R, Ghossaini S, Spitzer J, Farrugia M, Tjellstrom A. Os- seointegration timing for Baha System Loading. Laryngoscope, 117, 794796, 2007
  3. Priwin C, Granström G. The bone-anchored hearing aid in children: A surgical and questionnaire follow-up study. 132, 559-565, 2005