Hearing Loss Flashcards
Prevalence
2 - 3 out of every 1,000 children born in the U.S. are deaf or have hearing loss significant enough to effect speech and language development
(True or False) Newborn hearing screening is mandated throughout the U.S.
True
95% of newborns with hearing loss identified by newborn hearing screening programs are born to ___________ parents
hearing
How are the majority of genetic hearing loss inherited?
Autosomal recessive pattern; The gene, GJB2, accounts for the larget proportion of autosomal recessive early childhood hearing loss
Types of hearing loss
- sensorineural
- conductive
- mixed
- auditory neuropathy
What factors are used to describe hearing loss?
- Age of onset (congenital, prelingual, postlingual, adult-onset, or presbycusis [age-related late-onset]
- Type of hearing loss
- laterality and symmetry of the hearing loss
- Stability of the hearing loss
- Degree of hearing loss
- Configuration of the hearing loss as seen on audiometric analysis
What should first be done in a clinical evaluation to diagnosis the etiology of hearing loss?
- Medical and birth history
- Audiometric assessment of hearing loss
- Three generation pedigree and family medical history
- Physical exam
What genetic testing can be performed for syndromic hearing loss?
- Consider targeted gene testing based on suspected diagnosis
What genetic testing can be performed for suspected nonsyndromic hearing loss?
- Consider single-gene tests, gene panel tests, or next-gen sequencing based on history and findings
What other testing should be performed to evaluate the etiologic diagnosis of hearing loss?
- Congenital Cytomegalovirus Infection (CMV) is a common cause of pediatric hearing loss, and testing by rapid culture or PCR of saliva or urine samples from newborns are recommended
- CMV testing is most diagnostic ~6 weeks of age because the likelihood that a positive test is due to postnatal exposure increases with age.
Psychosocial challenges with genetic counseling and deafness
- Deafness is considered by some to be a nonmedical trait. Many deaf individuals consider themselves to be part of a linguistic and cultural minority group, viewing their deafness as a neutral or positive trait.
- However, when given accurate information about the nature of genetic counseling and how to obtain a referral, Deaf adults are often interesting in receiving genetic services in order to learn more about themselves
- Many Deaf and hard-of hearing individuals report an enhanced sense of self-understanding and self-identity and an enhanced cultural and group identity as a result of genetic testing
Terminology to use in sessions with deaf or hard-of-hearing patients
- Neutral or balanced terminology:
- “chance” instead of “risk”
- “deaf” or “hearing” instead of “affected” or “unaffected”
- do NOT use the words “handicapped,” “pathology,” or “impairment”
- DO NOT TREAT DEAFNESS OR HEARING LOSS AS A BAD THING
Genetic testing method most commonly used for deafness today
Next-gen sequencing