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CSD 420 Treacher Collins Syndrome
Melissa Bunchon 7 May 2013
Transcript of CSD 420 Treacher Collins Syndrome
Syndrome Overview and impact
by Melissa Bunch Role of Speech Language Pathologist and Audiologist Typical
Interventions Speech Language Services Medical Intervention is often needed by a cleft palate team for repair of lip or palate Features of Treacher Collins:
Downward slanting eyes
Defects in lower eyelids
Micrognathia (very small jaw)
Very large mouth
Malformed or absent outer ear
Cleft palate Cleft Palate Can have major impact on feeding, respiration and overall well being of an infant. can signficantly impact the development of speech and language of a child. How does
Treacher Collins Syndrome
Speech and Language? Hearing loss associated with this syndrome can be attributed to the abnormalities of the outer and inner ear.
Underdeveloped, malformed, or missing external ear can cause conductive hearing loss.
Underdeveloped ossicles can further hearing impairment. Cleft Palate Hearing Loss "A man never stands as tall as when he kneels to help a child."
- Knights of Pythagoras What is the impact
on families? Hearing Loss Two Major areas of concern
associated with Treacher Collins Cleft Palate is often associated with this syndrome and other craniofacial anomalies. The clefts are repaired in part to facilitate feeding, but most importantly to support normal speech. Feeding Feeding Intervention is critical for:
Health – airway protection Language Development History of cleft – may have delays in language development
Particularly expressive language Phonological/Articulation Development can be impacted from hearing loss
Manner & Place can be impacted
Apraxia Ongoing Medical Needs Cleft Palate repair may require multiple surgeries in the early years of a child's life.
Continuing therapy and services may be needed to ensure proper articulation and other speech related issues Psycho-social Issues Family Support is imperative
initial shock and adjustment to new infant with medical needs
Supportive School environment to combat social issues or poor self-perception and peer perception
Support groups may help to discuss surrounding stigma associated with medical or special needs Plastic Surgery is sometimes recommended for:
repair of sidewall and floor of eye socket
eyelid notches Respiratory issues at birth are addressed with trachesotomy to maintain airway. feeding
oral motor control
articulation and phonation
speech issues associated with hearing loss
other speech related issues particular to that client Audiology Services Services associated with: hearing screening and evaluation
continued monitoring for fluctuating hearing loss Therapy Services for: Resources UC Davis Childrens' Hospital
Craniofacial anomalies Information about Treacher Collins, surgeries, doctors and outreach Treacher Collins
Foundation Organization of families, individuals, and professionals who are interested in developing and sharing knowledge and experience about Treacher Collins syndrome and related conditions. Children's Craniofacial Association Empowering and giving hope to individuals and families affected by facial differences What is Treacher Collins Syndrome? Inherited syndrome caused by a defective protein by a gene on chromosome 5 Occurrence in the Population Occurs in approximately 1 of 50,000 births.
Occurs as a spontaneous mutation out of genetically normal parents or it may be inherited from one of the parents.
If one parent is affected there is a 50% chance of passing it on to the offspring The syndrome has a wide range of severity.
Severity can range from family to family and individuals within the same family. Reflections on Treacher Collins Great website set up by a woman who has Treacher Collins Syndrome with reflections, essays and links to helpful sites Individuals with Treacher Collins are typically of normal intelligence.
Speech issues are generally related to hearing loss, micrognathia and cleft palate.