First Midterm Part 2 Flashcards
Fill in the blank: Hearing loss can be broken down as the following : 50% are _____, 25% are ______, and 25% are_______.
50% Genetic, 25% Idiopathic, 25% Environmental
Out of the hearing loss that are genetic, 30% are _____ and 70% are ________
syndromic; non-syndromic
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
D - Usher Syndrome
Down Syndrome or Trisomy 21 is an example of this irregular number of chromosomes
aneuploidy
Some of the distinctive features associated with Down Syndrome are:
middle ear problems, small pinna/auricles, upslanting papebral fissures, flat facial profile
The type of hearing loss that is most common among those who have Down Syndrome is:
Conductive Hearing Loss
The syndrome where individuals have XXY chromosomes
Klein-Felder or Klinefelter
*usually detected during puberty
Syndrome that is known as 45X or X0
Turner Syndrome
Some of the features associated with Turner Syndrome are:
webbing of neck, low hairline, frequent otitis media, Conductive and SNHL
This disease is characterized with forgetfullness, personality changes, involuntary movements, and begins in middle adulthood
Huntington’s Disease
True or False: Both parents have to express the trait in order for offspring to have disorder
*Hallmark for Autosomal Dominant
False - one parent expresses the trait in which he or she transmits to 50% of the offspring
Disorder that is characterized of having irritability, hyperactivity, hypopigmentation, and excess phenylalanine
Phenylketonuria (PKU)
True or False: PKU is a autosomal dominant disorder
False - autosomal recessive
True or False: Can be transmitted to 25% of offspring, 50% will be carriers, and 25% would be genetically normal
*Hallmarks of Autosomal Recessive
True
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.
both copies; one copy
*females are carriers; males exhibit the trait
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
E - All except for C
no sensory deficit
Genetic hearing loss with no associated abnormalities that are dominant usually have this type of hearing loss
- sensorineural hearing loss*
- *rececessive can also have sensorineural hearing loss*
Malformations seen in the external ear will produce this type of hearing loss
conductive hearing loss; or mixed
*mixed is forbilateral/unilateral auricle pits
Autosomal dominant gene with variable expressivity and is mapped to a gene on chromosome 8
BOR (Branchio-oto-renal Syndrome)
*90% of hearing loss is conductive, sensorineural or mixed
*25% have kidney abnormalities
CHARGE Association stands for
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
Characterized with ocular hypertelorism, flat facial profile, conductive hearing loss and autosomal dominant
*can be sporadic
Apert Syndrome
Characterized by midfacial flattening, cleft palate, bony enlargement of ankles, knees, low percentage of sensorineural or mixed hearing loss (progressive)
- Stickler Sydrome*
- *autosomal dominant*
Downward sloping palpebral fissures, depressed cheekbones, cleft or incomplete soft palate, and often have a conductive or mixed hearing loss
- Treacher Collins Syndrome*
- *autosomal dominant*
There are three types of this, each with varying severities of sensorineural hearing loss, retinitis pigmentosa (RP), and balance problems
- Usher Syndrome*
- *autosomal recessive*
Characterized with flat nasal root, white forelock, about 50% SNHL (Sensorineural Hearing Loss), and autosomal dominant
Wardenberg Syndrome
Has many different degrees of progressive SNHL, common in males, small dysfunctional kidneys, x-linked inheritance,
Alport Syndrome
Characterized with neural hearing loss, growth of a noncancerous tumor on 8th nerve, progressive hearing loss,
Neurofibromatosis Type 2
Characterized by gap junction mutation, hearing loss ranges from mild to profound
Connexin 26 Hearing Loss
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
D - Connexin 26 and 30
DFNB4 stands for:
DFN is the label
B is recessive
4 at the fourth chromosome
It is a autosomal recessive nonsyndromic SNHL, with enlarged Vestibular Aqueducts, and or Mondini Malformations
DFNB4
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)
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)
Has multiple etiologies, can be either syndromic or nonsyndromic, mutation in OTOF gene or DFNB59 gene, typically prelingual
Auditory Dyssynchrony/Neuropathy
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
D - all of the above
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
C - Tissue sampling like in CVS, amniocentesis, or fetal blood sampling have a low risk of miscarriage
TORCH Complex stands for:
T - Toxoplasmosis
O - Other bacterial infections (syphillis)
R - Rubella
C - Cytomegalovirus
H - Herpes Simplex Virus
Characterized as a protozoan parasite, transmitted by undercooked meat, visual problems develop within weeks, later development of hearing loss or neurodevelopmental delay
Toxoplasmosis
Sexually transmitted bacterial disease, in utero or fetus, can cause progressive sensorineural hearing loss and vestibular dysfunction
Syphillis
Known as German measles, greatest damage in first trimester, may affect hearing, vision, psychomotor development, develops later in life
CRS - Congenital Rubella Syndrome
Member of herpes family virus, not contagious among adults, transmitted through contact with uterine, 10-15% will have progressive SNHL,
CMV - Cytomegalovirus
May be transmitted to fetus during birth, infections in neonates are fatal in 50% of cases, show rash, organ dysfunction, neurological difficutlies, and SNHL
HSV - Herpes Simplex Virus
Bacteria travels from the meninges of the brain to the labyrinth, mild to profound SNHL, and can lead to ossification of cochlea,
Meningitis
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.
- Hyperbilirubinemia*
- *damages spiral ganglia, auditory nerve, and brainstem nuclei*
