What is Treacher Collins Syndrome?
Treacher Collins syndrome (also known as mandibulofacial dysostosis or Franceschetti syndrome) is a genetic disorder that affects the growth and development of the head of an individual. The Incidence rate is 1 in every 50,000 children. Treacher Collins syndrome prevents the skull, cheek and jawbones from developing properly, causing facial defects and hearing loss.
Treacher Collins syndrome can be inherited through a gene called TCOF1 or caused by a genetic mutation. The TCOF1 gene spontaneously changes at the time of conception however the cause of this mutation is unknown. Parents that are affected by the syndrome have a 50 percent chance of passing it on to their children. There is currently no cure; however skull and face surgery in conjunction with speech therapy can improve speech and create a more normal appearance.
What are the signs and symptoms?
Symptoms range from mild to severe and disabling; however in most cases the cognitive faculties are not affected. Typically, the characteristics of a person with Treacher Collins syndrome may include:
- cleft palate (gap in the roof of the mouth)
- small jawbone
- disproportionately large mouth
- conductive hearing loss or conductive deafness due to malformations of inner ear structures.
- small or absent cheekbones
- large and pointed nose
- droopy misshaped eyes with notched lower lids
- lower eyelashes absent
- floor of the eye sockets absent
- overgrowth of scalp hair onto the cheeks
- low-set, misshapen, small or absent ears
- ear canal deformities
- psychological problems such as low self-esteem and depression
- breathing difficulties and sleep apnoea -severe cases may require a tracheostomy (surgical opening in the windpipe)
- dry eye syndrome leading to recurrent eye infections
How does a speech pathologist help?
Immediately after birth an infant with Treacher Collins Syndrome may have difficulties with feeding. This requires a paediatric feeding assessment to ensure the baby’s structural deficits do not interfere with his/her feeding and that there are no choking hazards or potential risk of harm during feeding.
The abnormally small jaw and normal-sized tongue coupled with any gaps in the palate often lead to speech difficulties. These speech problems occur as the child is not able to properly hold and manipulate the air in their mouth. They may have air escaping through the cleft palate causing distortion of the sound, making the voice sound nasal like Fran Fine from the Nanny. The child’s sound production may also be distorted due to a conductive hearing loss which is common with Treacher Collins syndrome. This happens because the child is hearing a distorted input of sound such as a ‘p’ instead of an ‘f’, so they will try to copy the wrong sound and as a result may say ‘pish’ instead of ‘fish’.
A hearing impairment may also cause a child’s language to be delayed. Different sentence types and language concepts such as ‘in’ vs. ‘on’ require multiple examples of use for the child to determine where to use them appropriately. If the child cannot hear the difference in the word or misses out on hearing these examples, they will have difficulty understanding the meaning of the word and in turn will not use the word appropriately or at all.
A speech pathologist will conduct a full assessment of the child’s speech and language to determine what sounds and components of language the child is having difficulty with, then individually tailor therapy to suite each child’s developmental needs.
This article was written by our speech pathologist Ashleigh Fattah. For specific advice and care for children with Treacher Collins Syndrome make an appointment with one of our speech pathologists. Contact us today.
