Hearing Loss

Question 1

Prevalence

Answer 1

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

Question 2

(True or False) Newborn hearing screening is mandated throughout the U.S.

Answer 2

True

Question 3

95% of newborns with hearing loss identified by newborn hearing screening programs are born to ___________ parents

Answer 3

hearing

Question 4

How are the majority of genetic hearing loss inherited?

Answer 4

Autosomal recessive pattern; The gene, GJB2, accounts for the larget proportion of autosomal recessive early childhood hearing loss

Question 5

Types of hearing loss

Answer 5

• sensorineural
• conductive
• mixed
• auditory neuropathy

Question 6

What factors are used to describe hearing loss?

Answer 6

• 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

Question 7

What should first be done in a clinical evaluation to diagnosis the etiology of hearing loss?

Answer 7

• Medical and birth history
• Audiometric assessment of hearing loss
• Three generation pedigree and family medical history
• Physical exam

Question 8

What genetic testing can be performed for syndromic hearing loss?

Answer 8

• Consider targeted gene testing based on suspected diagnosis

Question 9

What genetic testing can be performed for suspected nonsyndromic hearing loss?

Answer 9

• Consider single-gene tests, gene panel tests, or next-gen sequencing based on history and findings

Question 10

What other testing should be performed to evaluate the etiologic diagnosis of hearing loss?

Answer 10

• 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.

Question 11

Psychosocial challenges with genetic counseling and deafness

Answer 11

• 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

Question 12

Terminology to use in sessions with deaf or hard-of-hearing patients

Answer 12

• 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

Question 13

Genetic testing method most commonly used for deafness today

Answer 13

Next-gen sequencing