First Midterm Part 2 Flashcards Preview

CD 674 Pediatric Audiology > First Midterm Part 2 > Flashcards

Flashcards in First Midterm Part 2 Deck (43)
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1
Q

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

A

50% Genetic, 25% Idiopathic, 25% Environmental

2
Q

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

A

syndromic; non-syndromic

3
Q

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

A

D - Usher Syndrome

4
Q

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

A

aneuploidy

5
Q

Some of the distinctive features associated with Down Syndrome are:

A

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

6
Q

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

A

Conductive Hearing Loss

7
Q

The syndrome where individuals have XXY chromosomes

A

Klein-Felder or Klinefelter

*usually detected during puberty

8
Q

Syndrome that is known as 45X or X0

A

Turner Syndrome

9
Q

Some of the features associated with Turner Syndrome are:

A

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

10
Q

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

A

Huntington’s Disease

11
Q

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

*Hallmark for Autosomal Dominant

A

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

12
Q

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

A

Phenylketonuria (PKU)

13
Q

True or False: PKU is a autosomal dominant disorder

A

False - autosomal recessive

14
Q

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

*Hallmarks of Autosomal Recessive

A

True

15
Q

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.

A

both copies; one copy

*females are carriers; males exhibit the trait

16
Q

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

A

E - All except for C

no sensory deficit

17
Q

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

A
  • sensorineural hearing loss*
  • *rececessive can also have sensorineural hearing loss*
18
Q

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

A

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

19
Q

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

A

BOR (Branchio-oto-renal Syndrome)

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

20
Q

CHARGE Association stands for

A

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

21
Q

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

A

Apert Syndrome

22
Q

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

A
  • Stickler Sydrome*
  • *autosomal dominant*
23
Q

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

A
  • Treacher Collins Syndrome*
  • *autosomal dominant*
24
Q

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

A
  • Usher Syndrome*
  • *autosomal recessive*
25
Q

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

A

Wardenberg Syndrome

26
Q

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

A

Alport Syndrome

27
Q

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

A

Neurofibromatosis Type 2

28
Q

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

A

Connexin 26 Hearing Loss

29
Q

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

A

D - Connexin 26 and 30

30
Q

DFNB4 stands for:

A

DFN is the label

B is recessive

4 at the fourth chromosome

31
Q

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

A

DFNB4

32
Q

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)

A

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)

33
Q

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

A

Auditory Dyssynchrony/Neuropathy

34
Q

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

A

D - all of the above

35
Q

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

A

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

36
Q

TORCH Complex stands for:

A

T - Toxoplasmosis

O - Other bacterial infections (syphillis)

R - Rubella

C - Cytomegalovirus

H - Herpes Simplex Virus

37
Q

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

A

Toxoplasmosis

38
Q

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

A

Syphillis

39
Q

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

A

CRS - Congenital Rubella Syndrome

40
Q

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

A

CMV - Cytomegalovirus

41
Q

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

A

HSV - Herpes Simplex Virus

42
Q

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

A

Meningitis

43
Q

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.

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