Approximately 85% of patients with Treacher-Collins Syndrome have microtia. One-
Third of these patients have stenosis or complete atresia of the ear canal. Ossicular malformations can include incudomalleal fusion and poorly developed stapes. Inner ear malformation can include enlarged cochlear aqueducts and absent horizontal canals.
Hearing loss is usually a bilateral conduction loss. The degree of the hearing loss depends on the malformations and can vary within the same person. (Scott, 2002)
Relevant Case History Components
Obtaining a case history is the most important piece in identifying the etiology of hearing loss (Maddell, 2008) It is needed to rule out other etiologies and complications that may be present. Case history must include: …show more content…
• Family History: Since TCS is a genetic mutation, look at the family history to see if other family members have this syndrome or if other syndromes are discovered.
• Medical History: Are there any other known medical perinatal complications that could have other affects on the child? In addition to physical characteristics common to TCS, the child may have some or all of the following difficulties:
Breathing problems and/or eating difficulties, eyes tend to dry out, which can lead to infection, some children have abnormally small or absent thumbs, and cleft palate often occurs with TCS (“What is Treacher Collins,” 2015).
Test Battery
Since a newborn hearing screening could not be completed, the child needs to be referred for a diagnostic audiology evaluation, which will include several test batteries and stakeholders throughout the child’s early life. Recommendations from JCIH ("Year
2007 Position Statement: Principles and Guidelines for Early Hearing Detection and
Intervention Programs”) include:
Diagnostic Audiology Evaluation for selection and fitting of amplification device. This should be completed within one month of diagnosis. In many cases of Atresia, a
Third of these patients have stenosis or complete atresia of the ear canal. Ossicular malformations can include incudomalleal fusion and poorly developed stapes. Inner ear malformation can include enlarged cochlear aqueducts and absent horizontal canals.
Hearing loss is usually a bilateral conduction loss. The degree of the hearing loss depends on the malformations and can vary within the same person. (Scott, 2002)
Relevant Case History Components
Obtaining a case history is the most important piece in identifying the etiology of hearing loss (Maddell, 2008) It is needed to rule out other etiologies and complications that may be present. Case history must include: …show more content…
• Family History: Since TCS is a genetic mutation, look at the family history to see if other family members have this syndrome or if other syndromes are discovered.
• Medical History: Are there any other known medical perinatal complications that could have other affects on the child? In addition to physical characteristics common to TCS, the child may have some or all of the following difficulties:
Breathing problems and/or eating difficulties, eyes tend to dry out, which can lead to infection, some children have abnormally small or absent thumbs, and cleft palate often occurs with TCS (“What is Treacher Collins,” 2015).
Test Battery
Since a newborn hearing screening could not be completed, the child needs to be referred for a diagnostic audiology evaluation, which will include several test batteries and stakeholders throughout the child’s early life. Recommendations from JCIH ("Year
2007 Position Statement: Principles and Guidelines for Early Hearing Detection and
Intervention Programs”) include:
Diagnostic Audiology Evaluation for selection and fitting of amplification device. This should be completed within one month of diagnosis. In many cases of Atresia, a