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AUDE 5310 > syndromic HL and deafness > Flashcards

syndromic HL and deafness Flashcards

1
Q

epidemiology

A

study of population health/outcomes
-understanding incidence of syndromes, prevalence of existing cases and looking at new cases
-observing patterns
-long term view

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2
Q

ways to reduce birth defects

A

take folic acid every day, stay up to date with immunizations, get regular medical checkups, avoid tobacco and prevent insect bites

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3
Q

what are some causes of HL

A

genetic and environmental factors either alone or together

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4
Q

gene mapping

A

finding the exact location using the # arm region band sequence
-the street address

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5
Q

gene cloning

A

production of exact copies of a particular gene of DNA sequence using genetic engineering techniques
-producing a clone of the DNA sequence

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6
Q

syndromic loci

A

syndromic disorders show abnormalities in many areas

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7
Q

nonsyndromic loci

A

nonsyndromic disorders are not associated with another other symptoms or disorders

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8
Q

DFN

A

deafness neurosensory

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9
Q

DFNA

A

autosomal dominant deafness neurosensory

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10
Q

DFNB

A

autosomal recessive deafness neurosensory

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11
Q

DFNX

A

x linked recessive deafness neurosensory

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12
Q

DFNY

A

y linked deafness neurosensory

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13
Q

DFNM

A

modifier deafness neurosensory

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14
Q

AUNA

A

auditory neuropathy deafness neurosensory

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15
Q

OTSC

A

otosclerosis

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16
Q

modifier genes

A

genotype does not prefix phenotype because of the complexity of the genome
-contribution of genetic background to phenotypic diversity reflects the additive and interactive effects of multiple genes

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17
Q

inner ear homeostasis

A

looking at the ionic balance of perilymph and endolymph within the ear
-between ions and fluids
-a tight control on ion movement across the membrane is vital

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18
Q

what ions are involved

A

sodium, potassium and there is also the interplay of chloride and calcium

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19
Q

what causes disorders of ion homeostasis

A

disruption of the strial ion transport mechanism is the final pathway common to many of the disorders

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20
Q

what are the two disorders of ion homeostasis

A

endolymphatic hydrops and endolypmphatic xerosis

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21
Q

endolymphatic hydrops

A

increased potassium transport in the endolymph or an increase in endolymph
-example is meniere’s disease

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22
Q

endolypmphatic xerosis

A

decreased potassium transport in the endolymph or decreased endolymph production
-related to connexin

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23
Q

cytogenetics

A

studies the cell, primarily the chromosome, structures and functions
-looking at the number and structure

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24
Q

aneuploidy

A

whole chromosome

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25
Q

trisomy vs. monosomy

A

most are livable vs. often lethal

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26
Q

what monosomy is survivable?

A

monosomy of sex chromosomes

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27
Q

what trisomy is survivable?

A

13, 18, 21 and X

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28
Q

how do we classify syndromic genetic deafness and hearing loss?

A

chromosome disorder, external changes, eye disease, musculoskeletal disease, renal disease, cardiac system disease, neurologic system disease, endocrine disorders, metabolic disorders, integumanetary system disease

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29
Q

chromosomal vs. single gene

A

whole body vs. system

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30
Q

chromosome disorder

A

HL due to chromosomal disorders but there are multiple genes being affected meaning multiple systems are affected
-main characteristic is intellectual disability

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31
Q

trisomy 13 (patau syndrome)

A

extra chromosome 13
-if survives birth, usually a short life span
-intellectual disability, blindness (coloboma’s), cleft lip, heart defects and extra toes/fingers

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32
Q

audiologic findings with trisomy 13

A

rounding of external ear, low set ear, severe to profound SNHL

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33
Q

trisomy 18 (edward’s syndrome)

A

extra chromosome 18
-very short life span, majority will die within 1st year
-intellectual disability, seizures, small mouth with arched palate, small lower jaw, clenched hands and heart defects

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34
Q

audiologic findings of trisomy 18

A

malformed and low set pinna, abnormal ME/IE and signs of heavy HL or deafness but unable to determine

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35
Q

trisomy 21 (down syndrome)

A

extra chromosome 21
-one of the few trisomies that can be tolerated within development
-life span increasing due to advancements
-intellectual disability, IQ decrease with age, flattened facial features, large tongue, short limbs, poor muscle tone, heart disease

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36
Q

audiologic findings in trisomy 21

A

low set pinna, narrow ear canal, conductive HL is most common

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37
Q

how is down syndrome passed on

A

nondisjunction, robertsonian translocation and mosaicism (x-inactivation)

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38
Q

nondisjunction inheritance

A

a pair of 21 chromosomes fails to separate in either the egg or sperm and as the embryo develops the extra chromosome is replicated in every cell of the body

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39
Q

robertsonian translocation

A

the chromosome breaks at its centromere and the long arm fuses to form a single chromosome with a single centromere and the short arms will fuse together as well
-centromere breaks, long (q) arms fuse with a new centromere, short (p) arms join together and will be lost

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40
Q

mosaicism

A

the presence of two or more cell lines or populations that differ genetically in an individual or tissue but is derived from a single zygote
-what adds variation
-will have a pool of various cells with different numbers in each

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41
Q

what is a specific type of mosaicism

A

x-inactivation

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42
Q

x-inactivation

A

prevents females from having twice as many x chromosomes as males
-since females get two x’s, one at random will be turned off
-creates a mosaic since some are inactivated and other are turned on

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43
Q

ring chromosome

A

occurs when an abnormal chromosome forms a ring structure
-both arms have a piece broken off and these ‘dead’ ends attach to each other to form a ring

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44
Q

chimerism

A

the presence of two sets of DNA or organs that do not match the DNA of the rest of the organisms
-very rare
-tends to occur within the embryonic development phase when two non-identical embryos merge together instead of growing on their own

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45
Q

turner syndrome (45, X0)

A

lacking a chromosome, having an X but missing the other sex chromosome
-most often will be female phenotype
-short stature with webbed neck
-immature gonads, infertility
-droopy eyelids
-IQ slightly below normal

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46
Q

audiologic findings of turner syndrome

A

low set pinna, narrow ear canal, recurrent ear infections and OM reported, speech and language aspects need to be addressed

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47
Q

klinefelter’s syndrome (47, XXY)

A

having an extra chromosome, having an extra X
-occurs in male births due to having the Y
-tall/thin with long legs
-hypogonadism around puberty with extra breast tissue
-male gonads but they are not functional
-IQ in low to normal range
-behavioral and psychosocial problems

48
Q

audiologic findings in klinefelter’s syndrome

A

SNHL, poor auditory discrimination and delayed speech development

49
Q

syndromic conditions associated with external ear changes

A

treacher collins, branchio-oto-renal, oculo-auriculo-vertebral and CHARGE syndrome

50
Q

treacher collins syndrome

A

1st and 2nd brachial arch syndrome
-AD inheritance with deletions or nonsense mutations
-treacle protein that helps with neural crest cells
-facial structure abnormalaities, cleft palate, coloboma of iris, fish like mouth, facial nerve anomalies

51
Q

audiologic findings in treacher collins

A

malformed pinna, atresia (no ear canal), absent or malformed ossicles, absence of ME cavity, mild to moderate conductive HL

52
Q

treatment approach for treacher collins

A

cleft palate repaur, BAHA, speech therapy and educational intervention

53
Q

branchio-oto-renal (BOR) syndrome

A

AD inheritance of HL with a transcription factor that is involved within the inner ear and kidney cell development
-cysts on kidneys and facial anomalies

54
Q

audiologic findings of BOR

A

mixed HL is most common, branchial cysts, malformation of pinna, EAC stenosis, ossicular deformities and mondini’s malformation

55
Q

oculo-auriculo-vertebral (OAV) spectrum

A

unilateral malformation of craniofacual structures from the 1st and 2nd arches with sporadic inheritance
-the mildest of the combined 3 complex disorders
-asymmetrical facial abnormalities, cardiac anomalies, vertebral anomalies and deafness or blindness

56
Q

audiologic findings with OAV

A

pinna anomalies, conductive HL

57
Q

CHARGE syndrome

A

most cases are sporadic however could be AD
-coloboma, heart defects, atresia of nasal conchae, retarded growth or development, genital abnormalities, ear anomalies

58
Q

audiologic findings of CHARGE

A

external ear anomalies, ossicular malformations with ET dysfunction, mondini, considered to be a deaf/blind syndrome

59
Q

syndromic conditions associated with eye disease

A

usher syndrome and norrie syndrome

60
Q

usher syndrome

A

affects the ears and eyes with 3 types and is the most common AR syndromic HL
-most mutations lead to the loss of hair cells in the inner ear and gradual loss of rods and cones within the retina
-intellectual disability and psychosis, retinitis pigmentosa
-HL can mild to severe progressive SNHL

61
Q

type 1 usher’s

A

more severe
-congenital severe to profound SNHL
-abnormal vestibular functions/gait ataxia
-delayed motor milestones

62
Q

type 2 usher’s

A

milder than 1
-congenital mild to severe SNHL
-normal vestibular function

63
Q

type 3 usher’s

A

rare with a progressive aspect
-progressive SNHL with progressive vestibular dysfunction
-could be a potential founder effect

64
Q

explain some other common syndrome’s that have RP and HL

A

hallgren syndrome - ataxia, pigmentary retinopathy and SNHL
cockayne syndrome - associated with dwarfism and motor disturbances
alstrum syndrome - associated diabetes mellitus
refsum syndrome - triad of RP, peripheral neuropathy and ataxia

65
Q

norrie syndrome (oculo-acoustico-cerebral dysplasia)

A

eyes, ears and brain
-rare disorder with x-linked recessive inheritance and is believed to be a deletion
-onset within the 2nd decade
-retinal detachment, congenital progressive blindess NOT caused by RP, cataracts and CNS involvement

66
Q

audiologic findings of norrie syndrome

A

progressive moderate to severe SNHL, flat or sloping, atrophy of stria vascularis with degenerations of hair cells

67
Q

syndromic conditions associated with musculoskeletal diseases

A

crouzon, stickler, achondroplasia and oteogenesis imperfecta

68
Q

crouzon syndrome

A

premature closure of cranial sutures with resulting contracted skill
-AD transmission with mutations in the protein that makes fibroblast growth factors which turns cells to bone
-cranial and facial deformities due to development of bone affecting the ossification

69
Q

audiologic findings of crouzon

A

atresia of EAC, ossicular defomity, absent or narrow oval/round window, conductive HL is most common

70
Q

sitckler syndrome

A

distinctive facial apperance, eye abnormalities, HL and joint problems
-AD due to collagen based issues
-premature degeneration of joint leading to abnormalities, flat midface and cleft palate, severe myopia
-3 differenty types all with different genes

71
Q

audiologic findings of stickler syndrome

A

mixed or pregressive high frequency SNHL

72
Q

achondroplasia

A

form of short limbed dwarfism
-AD inheritance in familial cases but can be sporadic
-average trunk with short arms and legs, frontal bossing, stubby hands, bowed legs, lordotic lumbar spine, decrease in reproductive fitness

73
Q

genotype with achondroplasia

A

-homozygosity has been proven lethal
-heterozygosity with 1 bad gene shows the phenotype

74
Q

audiologic findings with achondroplasia

A

high risk of ear infections with some conductive HL and otosclerosis is also reported

75
Q

osteogenesis imperfecta

A

generalized connective tissue disorder characterized by bone fragility (breaking bones easily)
-AD inheritance with mutation in collagen genes
-bone fragility, blue sclera and cardiovascular problems

76
Q

audiologic findings with oteogenesis imperfecta

A

conductive or mixed HL, begins in late teens and progresses to profound deafness, tinnitus and vertigo often present

77
Q

syndromic conditions associated with renal disease

A

alport syndrome

78
Q

alport syndrome

A

nephritis and SNHL
-x linked in most cases
-collage gene affected
-kidney inflammation, hematuria, albuminuria, hypertension can occur
-premature death due to hypertension due to the body needing to work harder to move fluid through

79
Q

audiologic findings with alport syndrome

A

bilateral SNHL, progressive

80
Q

what must be present for a diagnosis of alport syndrome

A

3 of the following :
-positive family history of hematuria with or without renal failure
-electron microscope evidence of renal disease on renal biopsy
-characteristic ophthalmologic signs
-high frequency SNHL progressive during childhood

81
Q

syndromic conditions associated with neurologic system diseases

A

auditory neuropathy spectrum disorder (ANSD), charcot-marie-tooth disease, friedreich ataxia, hereditary sensory and autonomic neuropathy type 1 (HSAN1) and neurofibromatosis (NF)

82
Q

ANSD

A

functional OHC but problems present with CN 8 and the synapses results in present OAE’s but absent ARTs or ABRs
-majority are bilateral but it can be unilateral
-can be due to environmental, nonsyndromic, syndromic and mitochondrial inheritance

83
Q

how does ANSD impact speech

A

severe impairment on speech perception because of the disruption of CN 8 firing
-within noise is highly affected
-abnormal speech testing

84
Q

audiologic findings of ANSD

A

-important to test OAE’s, reflexes and speech as the audiogram is useless
-no speech in noise
-trial for amplification
CI’s are the most successful intervention for ANSD patients

85
Q

charcot-marie-tooth (CMT) disease

A

progressive neurodegenerative disease characterized by polyneuropathy
-variable transmission however a deletion or point mutation occurs
-motor and sensory nerves affected, absent limb reflexes, chronic degeneration of peripheral nerves, full onset by 30 years
-100% penetrance

86
Q

audiologic findings with CMT disease

A

SNHL with onset in childhood or adulthood, slowly progressive and may be caused by neuropathy due to demyleination of CN 8

87
Q

friedreich ataxia

A

inability to coordinate voluntary muscular movement
-AR inheritance and gene is mapped to a protein that is importance for mitochondrial function and caused by triple expansion
-incoordination, dysarthria, nystagmus, diminished tendon reflexes, impairment of position senses, scoliosis, enlarged cardiac muscles

88
Q

what is sufficient for a diagnosis for friedreich ataxia

A

hypoactive knee and ankle reflex, progressive cerebellar dysfunction and preadolescent onset

89
Q

audiologic findings for friedrich ataxia

A

CN 8 and 2 that cause HL and visual impairment

90
Q

hereditary sensory and autonomic neuropathy, type 1 (HSAN1)

A

neurodegenerative disorder
-early onset dementia, sensory neuropathy (loss of myelinated fibers) and early death is often reported

91
Q

neurofibromatosis (NF)

A

NF1 and NF2 (look at chart for the breakdown of symptoms for each)
-AD inheritance with high penetrance and variable expressivity
-cafe-au-lait spots, vascular tumors that increase with age, color tumors in eye, neurofibromas, progressive visual loss is common, emotional and communication disorders

92
Q

management of NF-2

A

surgery of the 8th nerve which causes the patient to go deaf, tumors can recur and CI’s are not an options so they will use auditory brainstem implant instead as it bypasses the damaged nerve

93
Q

syndromic conditions associated with cardiac system disease

A

JLNS

94
Q

jervell lange nielsen syndrome

A

cardiac and hearing syndrome due to potassium channel genes being affected
-AR syndromic HL
-long QT interval on EKG, congenital deafness, sudden death, syncopal episodes

95
Q

audiologic findings with JLNS

A

congenital deafness
-can refer with justification

96
Q

syndromic conditions associated with endocrine disorders

A

pendred and DIDMOA syndrome
-EVA by association with pendred

97
Q

pendred syndrome

A

AR inheritance which makes the variability rare
-thyroid issues, delayed onset, variable expressivity, EVA

98
Q

audiologic findings for pendred syndrome

A

profound and progressive SNHL
-variable onset
-more sever in HF
-abnormality of bony labyrinth
-abnormally wide or absent vestibular structures

99
Q

enlarged vestibular aqueduct (EVA)

A

the endolymphatic duct and sac grows too large, leading to the fluid being affected
-due to same gene as seen within pendred’s
-variable audiologic phenotypes
-children can pass NBHS even if they have this
-SNHL

100
Q

DIDMOAD syndrome

A

diabetes insipidus, diabetes mellitus, optic atrophy, deafness (SNHL)
-AR inheritance
-rare condition when kidney;s cannot prevent exertion of water

101
Q

audiologic findings in DIDMOAD

A

bilateral SNHL with slowly progressive HL
-onset in 2nd decade

102
Q

syndromic conditions associated with metabolic disorders

A

mucopolysaccharidosis (MPS) and biotinidase deficiency

103
Q

mucopolysaccharidosis (MPS)

A

group for lysosomal storage diseases caused by various enzyme deficincies that catalyze the breakdown of glycosaminoglycans
-AR except MPS2 which is x-linked
-progressive course

104
Q

audiologic findings with MPS

A

conductive HL caused by recurrent UPT infections and serous otitis media

105
Q

MPS 1H (hurler syndrome)

A

recognized during infancy when patients are unusually large (abnormal growth)
-coarse facial features, corneal clouding, skeletal deformities, recurrent otitis media and HL, intellectual disability, death by around 10 years old

106
Q

MPS 2 (hunter syndrome)

A

mild to severe form
-x linked transmission
-severe form is more common with rapid intellectual deterioration, coarsening of features, death by 10-15 years of age
-mild form is less common and survival to adulthood is possible

107
Q

biotinidase deficiency

A

AR disorder with a mutation in the biotinidase gene and is treatable with supplements of biotin
-seizures, hypertonia and ataxia, skin rash, deafness

108
Q

audiologic findings with biotinidase deficiency

A

SNHL and visual impairment are permanent and not reversible

109
Q

syndromic conditions associated with integumentary system disease

A

waardenburg syndrome

110
Q

waardenburg syndrome

A

four subtypes with different genes
-most common AD syndromic HL and caused by hereditary deficit of neural crest cells
-white forelock, prematuring graying of hair
-WS1, WS2, WS3, WS4 (look at diagram for more information on each)

111
Q

audiologic findings of waardenburg syndrome

A

bilateral or unilateral HL with variable levels of HL
-vestibular abnormalities are reported
-atrophic changes in spiral ganglion and 8th nerve
-degeneration of organ of corti

112
Q

ranking of most common autosomal dominant associated HL disorders

A
  1. waardenburg syndrome
  2. BOR
113
Q

ranking of most common autosomal recessive associated HL disorders

A
  1. usher
  2. pendred’s
  3. JLNS
114
Q

what are some common characteristics of chromosome disorders

A

intellectual disability, heart disease/defect and palate/jaw issues

115
Q

what is one commonality within audiologic fundings for chromosomal disorders

A

pinna abnormalities

116
Q

what are the common branchial arch syndromes

A

treacher collins, BOR, OAV

117
Q

what are some common characteristics with branchial arch syndromes

A

pinna malformations, conductive HL, facial anomalies to variable extents

AUDE 5310 (5 decks)

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