First Midterm Part 2

Question 1

Fill in the blank: Hearing loss can be broken down as the following : 50% are _____, 25% are ______, and 25% are_______.

Answer 1

50% Genetic, 25% Idiopathic, 25% Environmental

Question 2

Out of the hearing loss that are genetic, 30% are _____ and 70% are ________

Answer 2

syndromic; non-syndromic

Question 3

All of the following are considered nonsyndromic hearing loss except for:

A.) Autosomal Recessive

B.) X-Linked

C.) Mitochondrial

D.) Usher Syndrome

E.) None of the above

Answer 3

D - Usher Syndrome

Question 4

Down Syndrome or Trisomy 21 is an example of this irregular number of chromosomes

Answer 4

aneuploidy

Question 5

Some of the distinctive features associated with Down Syndrome are:

Answer 5

middle ear problems, small pinna/auricles, upslanting papebral fissures, flat facial profile

Question 6

The type of hearing loss that is most common among those who have Down Syndrome is:

Answer 6

Conductive Hearing Loss

Question 7

The syndrome where individuals have XXY chromosomes

Answer 7

Klein-Felder or Klinefelter

*usually detected during puberty

Question 8

Syndrome that is known as 45X or X0

Answer 8

Turner Syndrome

Question 9

Some of the features associated with Turner Syndrome are:

Answer 9

webbing of neck, low hairline, frequent otitis media, Conductive and SNHL

Question 10

This disease is characterized with forgetfullness, personality changes, involuntary movements, and begins in middle adulthood

Answer 10

Huntington’s Disease

Question 11

True or False: Both parents have to express the trait in order for offspring to have disorder

*Hallmark for Autosomal Dominant

Answer 11

False - one parent expresses the trait in which he or she transmits to 50% of the offspring

Question 12

Disorder that is characterized of having irritability, hyperactivity, hypopigmentation, and excess phenylalanine

Answer 12

Phenylketonuria (PKU)

Question 13

True or False: PKU is a autosomal dominant disorder

Answer 13

False - autosomal recessive

Question 14

True or False: Can be transmitted to 25% of offspring, 50% will be carriers, and 25% would be genetically normal

*Hallmarks of Autosomal Recessive

Answer 14

True

Question 15

Fill in the blank: If the trait is carried on the X chromosome and it is recessive, females need _____ of the deviant gene and males need _____ to display the phenotype.

Answer 15

both copies; one copy

*females are carriers; males exhibit the trait

Question 16

Some of the characteristics of Lesch-Nyhan Syndrome are except:

A.) Achieve milestones up to about 4 months

B.) When incisors emerge; self-mutilation

C.) Sensory deficit

D.) Cannot control behavior

E.) All except for C

Answer 16

E - All except for C

no sensory deficit

Question 17

Genetic hearing loss with no associated abnormalities that are dominant usually have this type of hearing loss

Answer 17

• sensorineural hearing loss*
• *rececessive can also have sensorineural hearing loss*

Question 18

Malformations seen in the external ear will produce this type of hearing loss

Answer 18

conductive hearing loss; or mixed
*mixed is forbilateral/unilateral auricle pits

Question 19

Autosomal dominant gene with variable expressivity and is mapped to a gene on chromosome 8

Answer 19

BOR (Branchio-oto-renal Syndrome)

*90% of hearing loss is conductive, sensorineural or mixed
*25% have kidney abnormalities

Question 20

CHARGE Association stands for

Answer 20

C = Coloboma (defect of eye)

H = Heart defects

A = Atresia of chonae (opening of nasal cavity into nasopharynx)

R = retarded growth & development

G = genital hypoplasia

E = ear anomalies
*can be conductive or sensorineural

Question 21

Characterized with ocular hypertelorism, flat facial profile, conductive hearing loss and autosomal dominant
*can be sporadic

Answer 21

Apert Syndrome

Question 22

Characterized by midfacial flattening, cleft palate, bony enlargement of ankles, knees, low percentage of sensorineural or mixed hearing loss (progressive)

Answer 22

• Stickler Sydrome*
• *autosomal dominant*

Question 23

Downward sloping palpebral fissures, depressed cheekbones, cleft or incomplete soft palate, and often have a conductive or mixed hearing loss

Answer 23

• Treacher Collins Syndrome*
• *autosomal dominant*

Question 24

There are three types of this, each with varying severities of sensorineural hearing loss, retinitis pigmentosa (RP), and balance problems

Answer 24

• Usher Syndrome*
• *autosomal recessive*

Question 25

Characterized with flat nasal root, white forelock, about 50% SNHL (Sensorineural Hearing Loss), and autosomal dominant

Answer 25

Wardenberg Syndrome

Question 26

Has many different degrees of progressive SNHL, common in males, small dysfunctional kidneys, x-linked inheritance,

Answer 26

Alport Syndrome

Question 27

Characterized with neural hearing loss, growth of a noncancerous tumor on 8th nerve, progressive hearing loss,

Answer 27

Neurofibromatosis Type 2

Question 28

Characterized by gap junction mutation, hearing loss ranges from mild to profound

Answer 28

Connexin 26 Hearing Loss

Question 29

Which of the following Connexin mutations account for 24% of all congenital hearing loss?

A.) Cx 26 and Cx 31

B.) Cx 30 and Cx 43

C.) Cx 31 and Cx 43

D.) Cx 26 and Cx 30

E.) None of the above

Answer 29

D - Connexin 26 and 30

Question 30

DFNB4 stands for:

Answer 30

DFN is the label

B is recessive

4 at the fourth chromosome

Question 31

It is a autosomal recessive nonsyndromic SNHL, with enlarged Vestibular Aqueducts, and or Mondini Malformations

Answer 31

DFNB4

Question 32

Caused by mutations in MTRNR1 and MTTS1, hearing loss may develop after antibiotic treatment, hearing loss can be variable (flat, sloping or high frequency, progressive or stable)

Answer 32

Mitochondrial Hearing Loss

*affected mother will pass on to all of her offspring
*nervous and muscular systems can be affected (in reality all parts of the body)

Question 33

Has multiple etiologies, can be either syndromic or nonsyndromic, mutation in OTOF gene or DFNB59 gene, typically prelingual

Answer 33

Auditory Dyssynchrony/Neuropathy

Question 34

The following are limitations for Genetic Counseling:

A.) Genetic tests are specific for a particular disorder and can’t identify disorders not directly tested

B.) May not always predict age of onset or severity of disorder

C.) If negative, genetic tests may offer limited information

D.) All of the above

Answer 34

D - all of the above

Question 35

All of the following are risks for Genetic Testing except for:

A.) Physical risks are typically small, especially if it requires only blood or urine sample, or a cheek swabe

B.) Tissue samples can be a higher risk

C.) Tissue sampling like in CVS (chorionic villus sampling), amniocentesis, or fetal blood sampling have a high risk of miscarriage

D.) Concerns about financial consequences and potential for discrimination in or loss of employment or insurance

Answer 35

C - Tissue sampling like in CVS, amniocentesis, or fetal blood sampling have a low risk of miscarriage

Question 36

TORCH Complex stands for:

Answer 36

T - Toxoplasmosis

O - Other bacterial infections (syphillis)

R - Rubella

C - Cytomegalovirus

H - Herpes Simplex Virus

Question 37

Characterized as a protozoan parasite, transmitted by undercooked meat, visual problems develop within weeks, later development of hearing loss or neurodevelopmental delay

Answer 37

Toxoplasmosis

Question 38

Sexually transmitted bacterial disease, in utero or fetus, can cause progressive sensorineural hearing loss and vestibular dysfunction

Answer 38

Syphillis

Question 39

Known as German measles, greatest damage in first trimester, may affect hearing, vision, psychomotor development, develops later in life

Answer 39

CRS - Congenital Rubella Syndrome

Question 40

Member of herpes family virus, not contagious among adults, transmitted through contact with uterine, 10-15% will have progressive SNHL,

Answer 40

CMV - Cytomegalovirus

Question 41

May be transmitted to fetus during birth, infections in neonates are fatal in 50% of cases, show rash, organ dysfunction, neurological difficutlies, and SNHL

Answer 41

HSV - Herpes Simplex Virus

Question 42

Bacteria travels from the meninges of the brain to the labyrinth, mild to profound SNHL, and can lead to ossification of cochlea,

Answer 42

Meningitis

Question 43

This excess byproduct causes a change in the color of skin (yellow), liver can’t process breakdown of this byproduct, can cause damage to cochlear nuclei in the brainstem, SNHL, cognitive defecits, etc.

Answer 43

• Hyperbilirubinemia*
• *damages spiral ganglia, auditory nerve, and brainstem nuclei*