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AUDE 5310 > Syndromic Hearing Loss and Deafness > Flashcards

Syndromic Hearing Loss and Deafness Flashcards

1
Q

look at slide 7

A
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2
Q

What percentage of Hl is due to genetics

A

50%

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3
Q

What percent of HL is environmental/ non-genetic ?

A

25%

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4
Q

what percentage of HL is due to idiopathic ?

A

25%

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5
Q

what category does non-syndromic and syndromic belong to?

A

genetic

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6
Q

What percentage of HL does non syndromic contribute to ?

A

70%

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7
Q

What percentage of HL does syndromic contribute to ?

A

30%

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8
Q

what percent does autosomal recessive contribute to in HL?

A

75-80%

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9
Q

What percentage of autosomal dominant contributes to HL?

A

15-24%

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10
Q

what percentage of HL is due to x linked ?

A

1-2%

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11
Q

What percentage of HL is due to mitochondrial effect?

A

less than 1%

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12
Q

What is gene mapping?

A

exact location of a gene on a chromosome
like a street address of the gene on the chromosome

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13
Q

What is gene cloning

A

The production of exact copies (clones) of a particular gene or DNA sequence using genetic engineering techniques

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14
Q

what is syndromic loci?

A

Syndromic disorders show abnormalities in many area

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15
Q

what are nonsyndromic conditions

A

Nonsyndromic disorders are not associated with other S/S

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16
Q

how can modifier genes affect genes

A

Modifier genes can affect the phenotypic outcome of a given genotype by interacting in the same as the disease gene

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17
Q

Does the genotype affect the phenotype ?

A

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

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18
Q

what is the source of phenotypic variation?

A

Often, individual genes do not act alone but rather in combination with many other genes, therefore, modifier genes are a common source of phenotypic variation in human populations

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19
Q

modifier genes can?

A

These modifier genes can modulate expressivity (severity), penetrance, age of onset, progression of a disease, or pleiotropy (two or more seemingly unrelated phenotypic traits) in individuals with Mendelian traits

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20
Q

what is homeostasis ?

A

It is the ability of an organism or a cell to maintain internal equilibrium by adjusting its physiological processes

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21
Q

what is inner ear homeostasis?

A

“The process by which chemical equilibrium of inner ear fluids and tissues is maintained”

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22
Q

what is needed for proper inner ear function?

A

For proper inner ear function, a tight control on the ion movement across the cell membranes is necessary
These functions include
Hair cell functions
Regulation of extracellular endolymph and perilymph
Conduction of nerve impulses

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23
Q

What are major ions involved with inner ear homeostasis ?

A

Sodium (NA+)
Potassium (K+)

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24
Q

what other ions are involved with the role of inner homeostasis?

A

Chloride (Cl-)
Calcium (CA2+)

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25
Q

what are ion homeostasis controlled by?

A

-ION CHANNELS AND AND TRANSPORTERS IN THE PLASMA MEMBRANE
Ion homeostasis is controlled by numerous ion channels and transporters in the plasma membrane of cells, especially cells lining the scala media

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26
Q

Many disorders of cochlear hearing loss and vestibular dysfunction are caused by ?

A

disruption of ion homeostasis

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27
Q

what does the disruption of the strial ion transport cause IN RELATION TO HEARING LOSS?

A

-PERMENANTHEARING LOSS
-Genetic disorders associated with ion transport and pathways are often associated with permanent hearing loss
-Disorders from other causes are often transient and may recover without treatment

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28
Q

the majority of non-syndromic HL is due to ?

A

alteration of proteins that prevent movement of K+ from the organ of corti to the lateral wall and into the stria

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29
Q

hearing loss can result from ?
(in terms of potassium)

A

-increased or decreased activity of the strial process
-Increased K+ transport in the endolymph or increased endolymph production
-endolymphatic hydrops
-an example: Meniere disease is an increase
-Decreased K+ transport in the endolymph or decreased endolymph production
-endolymphatic Xerosis

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30
Q

Endolymphatic xerosis caused by?

A

various genetic anomalies is believed to be the cause of hearing loss in humans
-its an example of permanent disorders of ion homeostasis

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31
Q

what are an example of endolymphatic xerosis?

A

1)Connexin 26 related hearing loss
2)KCNE1 and KCNQ1

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32
Q

what is connexin 26?

A

instructions for making a protein called gap junction beta 2

-Gene mutation results in abnormal connexin gap junction proteins
-Responsible by itself for 50 to 80% of all AR hearing loss

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33
Q

what is KCNE1 and KCNQ1?

A

-These genes produce proteins that make up K+ channels on the apical stria
-Their absence leads to reduced endolymph and associated hearing loss seen in Jervell-Lange-Nielsen syndrome

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34
Q

What are classification of genetic deafness and hearing loss

A

-Chromosome disorders
-External ear changes
-treacher collins syndrome, branchio-oto-renal syndrome (BOR)
-Eye disease
-ushers sydrome, norrie syndrome
-Musculoskeletal disease
-crouzon sydrome, stickler syndrome
-Renal disease
-alports syndrome
-Cardiac system disease
-jerrell-lange-nielsen
-Neurologic/Neuromuscular system disease
-friedreich atraxia
-Endocrine disorders
- pendred syndrome
-Metablolic disorders
- bioindase deficiency, muccopolysacharidose (MPS)
-Integumentary system disease
-waardenburg syndrome
-No associated physical or mental characteristics
-connexin hearing loss and deafness

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35
Q

Are all the classifications listed above syndromic or non-syndromic ?

A

syndromic

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36
Q

what are other commonly used classification system classifies hearing loss?

A

1)Congenital genetic group
-present at birth
2)Delayed onset genetic group
-early onset
-childhood
-late onset
-adulthood
-something like cancer or Alzheimer’s, you can have it but it will show up later in life

3)Congenital non-genetic group
-born with it but doesn’t come from parents
4)Delayed onset non-genetic group
-early onset
-childhood
-ex meningitis
-late onset:
-adulthood
-an example is trauma, presbycusis

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37
Q

what is cytogenetics?

A

-functionof the chromosomes
-were talking about chromosomes
-Cytogenetics is a branch of genetics that studies structure and function of the cell, especially the chromosomes
-Too many or too few chromosomes/genes can have lethal consequences to a developing organism

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38
Q

why are patients with chromosome defects not address HL as a priority ?

A

-Patients with chromosome defects, especially trisomies, often are so severely compromised, both physically and mentally, that hearing status is not adequately addressed
-they have other issues going on that’s why
-For proper clinical management, assessment of hearing can be crucial
-Individuals faced with physical and mental hurdles may have their intellectual development further compromised by the burden of an undiagnosed hearing loss

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39
Q

what is more tolerable, monosomy or trisomies ?

A

-extra chromosome material is tolerated better than chromosome loss
-Monosomy of any autosome is lethal
-except sex chromosomes, they can still live

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40
Q

What 3 autosomal trisomies and sex trisomy can survuve full term

A

-13, 18, 21, X
THESE ARE THE ONLY ONES SURVIVABLE
-ALL THE OTHER FATAL

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41
Q

what has documented the increasing risk factor of chromosome trisomy

A

advance maternal age pregnancy, and a small amount of advance paternal age

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42
Q

what disorder is tied with trisomy 13?

A

Patau Syndrome

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43
Q

what type of disorder is patau syndrome?

A

chromosomal disorder

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44
Q

which trisomy has the most several birth defects in patau syndrome?

A

trisomy 13
only 5-10% of live births survive past one year

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45
Q

what are some symptoms seen in patau syndrome?

A

-cleft lip
-intellectual disabilites
-missing corpus callosum
-blindness

-Severe intellectual disability due to various brain defects
-forebrain defects
- agenesis (complete or partial absence of the corpus callosum
-microcephaly
-Bilateral iris, retinal, and optic nerve colobomas resulting in blindness
-A coloboma is missing pieces of tissue in structures that form the eye
-Cleft lip/palate
-Hand and feet polydactyly (supernumerary fingers and toes)
-Heart defects such as ventriculo-septal defect

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46
Q

what are audiological findings we see in patau syndrome

A

Audiologic findings
Abnormal helices
Low-set ear
Most children show a severe to profound bilateral sensioroineural hearing loss or deafness

Temporal bone studies show
Abnormalities of the cochlea and vestibular system
Hearing is often not evaluated because of low survival rate and significant/possible life threatening, medical, neurological, cognitive impairments

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47
Q

What is trisomy 18 called?

A

edwards syndrome

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48
Q

who is most likely seen to have edwards syndrome? and whats they birth rate?

A

-WOMEN
1 in 5000 births; Marked female (3:1) preponderance, possibly due to higher miscarriage of male fetus
50% die within first week; 90% during 1st year

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49
Q

what are some symptoms of edwards syndrome?

A

-Profound intellectual disability with seizures
-Small mouth with high arched palate
Clenched hands with overlapping fingers
-Heart defects, which are often the cause of death

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50
Q

what are audiologic findings seen in edwards syndrome?

A

low set pinna,
no ossification of ossicles and retarded cochleadevelopment

-Malformed and low-set pinnae
=Temporal bone studies; abnormal middle/inner ear, including failed ossification of ossicles and retarded cochlear development
-Based on temporal bone studies, most probably severely HI or deaf; audiometric analysis not reported

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51
Q

what is the most common chromosome defect in humans?

A

Trisomy 21- down syndrome

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52
Q

what is one of the fewest trisomies to be tolerated during development and why

A

-21, down syndrome, is the smallest somatic chromosome with the fewest number of genes, therefore, one of the few trisomies that can be tolerated during development
-even then only 30% of fetuses survive the term

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53
Q

what are clinical features in down syndrome ?

A

Clinical features include :
-intelectualdisabilites, short limbs, flattened facial features and epilepsy

    • intellectual disability and developmental delays; most common cause of intellectual disability
      -IQ decreases with age
      -General IQ for a 2-year-old is 60 while IQ maybe 35 for a 10-year-old
      -50% of adults with DS display an Alzheimer Disease-like phenotype beginning at ~ 40 years with similar brain pathology (their brain is similar to a brain with someone with alzheimers)
      -Flattened facial features with furrowed & large tongue (macroglossia)
      -Short limbs
      -Short broad hands with transverse palmar crease
      -Hypotonia in infancy
      Upslanted palpebral fissures
      -Palpebral fissure is the anatomic name for the separation between the upper and lower eyelids
      -Epilepsy is common
      Males nearly always infertile; females have reduced fertility
      -Congenital heart disease is common
      -40% affected w/ a potentially life threatening heart defect
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54
Q

audiologic findings in down sydrome

A

-lowset pinna
-conductive, SNHL, or mixed
-narrow ear canals, with middle and inner ear defects

-Low-set pinnae
-Stenotic ,narrow, external ear canals, with middle and inner ear defects
-Hearing loss in 60% of cases secondary to serous otitis media and impacted cerumen in stenotic ear canals
-Hearing loss can be conductive, SNHL, or mixed

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55
Q

what is robertsonian translocation

A

itswhen 2 acrocentric chromosomes fuse together

In ~ 4% of cases of Down’s syndrome, the extra 21 is a result of Robertsonian translocation
-an arocentric chromosome feature (13,14,15,21,22,Y)

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56
Q

what occurs at the chromosome level during robertsonian translocation

A

-During a Robertsonian translocation, the participating chromosomes break at their centromeres and the long arms fuse to form a single chromosome with a single centromere
-The short arms also join to form a reciprocal product, which typically contains nonessential genes and is usually lost within a few cell divisions

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57
Q

what happens when the large arm of chromosome 21 joins robertsonian translocation ?

A

when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosome 14 (or 15), the heterozygous carrier is phenotypically normal or balanced

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58
Q

how does robertsonian translocation translate and cause down syndrome

A

Translocation Down syndrome is a type of Down syndrome that is caused when a chromosome 21 becomes attached to another chromosome. In this case, there are three 21 chromosomes, but one of the 21 chromosomes is attached to another chromosome.

    • the progeny of this carrier may inherit an unbalanced (abnormal phenotype) trisomy 21, causing Down Syndrome
      -If mother is RT carrier, risk of 2nd trisomy 21 pregnancy = 10 to 15%
      -If father is RT carrier the risk is < 2%
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59
Q

what else can happen in unbalanced forms of robertsonian translocation?

A

In unbalanced forms, Robertsonian translocations also can result in other syndromes of multiple malformations including trisomy 13 (Patau syndrome)

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60
Q

look at slide 40

A
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61
Q

what percentage of mosaicism can cause downsyndrome ?

A

~ 1% of Down’s syndrome cases are caused by mosaicism

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62
Q

what is mosaicism?

A

when a person has two or more genetically different sets of cells in his or her body.

Presence of two or more cell lines (cell populations) that differ genetically in an individual or tissue but that are derived from a single zygote

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63
Q

can mosaicism happen in somatic cells or germ cells?

A

Mosaicism in single genes can be either somatic or germ cells

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64
Q

how can mosaicism help define the weird stuff we see in clinic ?

A

-it helps explain the number of unusual cases we see in clinic
-for ex ,
when parents have a normal phenotype but the child comes out with a rare autosomal dominant condition

the occurrence of rare autosomal dominant condition in an offspring whose parents are phenotypically normal such as achondroplasia (dwarfism), hemophilia (blood condition) and some blood conditions

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65
Q

what are other conditions in mosaicism?

A

mosaic Klinefelter syndrome and mosaic turner syndrome

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66
Q

what is x inactivation?

A

-X-inactivation or Lyonization is a form of germ cell mosaicism
- it’s when the X gene is inactive

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67
Q

who is consider mosaic between the 2 genders?

A

WOMEN ARE MOSAICS !!

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68
Q

what is the purpose of x inactivation?

A

X-inactivation prevents females from having twice as many X chromosome gene products as males

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69
Q

what x chromose is chosen to be inactive ?

A

it’s random

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70
Q

what will happen once the x linked is inactive ?

A

once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism

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71
Q

the genetic variation of down syndrome summary

A

-An extra copy of chromosome 21 can be inherited in three ways

1)Trisomy 21 (Nondisjunction) (~ 95% of cases)
-Prior to or at conception, a pair of 21chromosomes in either the sperm or the egg fails to separate (nondisjunction)
-As the embryo develops, the extra chromosome is replicated in every cell of the body and accounts for an extra chromosome 21

2)Translocation (~ 4% of cases)
-Part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14
-The total number of chromosomes in the cells remain 46 but the presence of an extra part of chromosome 21 causes the phenotype of Down syndrome

3)Mosaicism (~ 1% of cases)
-Occurs when nondisjunction of chromosome 21 takes place in one but not all of the initial cell divisions after fertilization
-When this occurs, there is a mixture of two types of cells, some containing the usual 46 chromosomes and others containing 47, which contain an extra chromosome 21
-Individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome but it is difficult to broadly generalize due to the variability of this condition

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72
Q

what are ring chromosome ?

A

Ring chromosome is a rare genetic condition caused by having an abnormal chromosome that forms a ring

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73
Q

how do chromosomes look like in people with ring chromosome?

A

-In people with ring chromosome, one chromosome is usually intact but the other forms a ring
-When a ring forms, both arms of a chromosome break and the broken ‘sticky’ ends fuse at the breakage points
-The broken fragments are lost, and with them any genes they may contain

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74
Q

where can ring chromosome occur ?

A

Ring chromosome can occur in any chromosome but are more common in acrocentric chromosome

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75
Q

what rings chromosomes might be affected ?

A

r. 13, r.14, r.15, r.21, r.22, r.Y

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76
Q

are ring chromosomes sporadic or inherited?

A

sporadic but when it’s inherited it comes from mom

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77
Q

Ring chromosome affect what in cells?

A

cell growth

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78
Q

how does ring chromosomes disrupt cell growth ?

A

ring chromosome formation may disrupt this process because the ring chromosome during cell division may not behave properly and may be entangled, broken, and could double in size

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79
Q

what might result from ring chromosomes ?

A

-As a result cells may arise with the wrong amount of chromosome material (too much or too little), which is called mosaicism
-Most commonly, these individuals also have cells with 46 normal chromosomes, which generally softens the impact of the ring

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80
Q

what is chimerism?

A

Chimerism may manifest as the presence of two sets of DNA, or organs that do not match the DNA of the rest of the organism
-and happens in early embryonic development

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81
Q

how does chimerism happen

A

two non-identical twin embryos merging together instead of growing on their own

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82
Q

what are some characteristics seen in Chimerism?

A

-Hermaphroditic characteristics, having both male and female sex organs, can be a sign of chimerism
-Can be seen in cases of bone marrow transplant

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83
Q

what is turner syndrome?

A

it looks like 45, X0
One of the x chromosomes is gone in the females XX chromosome, typically being pregnant with a baby will not cause this

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84
Q

Which X in turner syndrome is gone?

A

typically dad’s X is gone

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85
Q

what are clinical factors seen in turners syndrome

A

Short stature with thick or webbed neck
Wide chest with broadly spaced nipples and streak gonads
-patients are typically infertile
IQ may be slightly below normal
Turner is a condition where an X-linked recessive trait may express phenotypically in females because only one X chromosome is present

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86
Q

what are audiologic findings in turners syndrome?

A

-Low-set, protruding pinna and narrow ear canals
-Recurrent ear infections and chronic OM reported in over 50% of cases
-reoccurring otitis media and have long term speech and language defects

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87
Q

what is Klinefelter’s syndrome?

A

they have an extra X chromosome
it looks like (47, XXXY)

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88
Q

what are clinical features seen in Klinefelter’s syndrome?

A

-Tall and thin with disproportionately long legs
-Development relatively normal till puberty when hypogonadism is more evident with gynecomastia
-IQ in the low-normal range
-Behavioral and psychosocial problems; poor attention & judgment

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89
Q

audiologic features seen in klinefelter’s syndrome ?

A

SNHL reported in ~ 20% of cases with poor auditory discrimination and delayed speech development

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90
Q

turners and klinefelter’s syndrome are similar in what manner ?

A

Both Turner and Klinefelter’s syndrome are generally spontaneous mutations and not inherited

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91
Q

is treachers collins sydrome dominant or recessive ?

A

~ 40% cases autosomal dominant (AD) with variable expressivity and almost 100% penetrance

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92
Q

what are risk factors treachers collins syndrome

A

fathers tending to being older

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93
Q

what are some clinical symptoms seen in treacher collins syndrome

A

abnormalities of facial structures formed from the first pharyngeal arch; First arch syndrome
1) receding arch
2) lower eyelids/ absent eyelashes
3)fish like mouth because of deficiency of muscles of the upper lip and small lower jaw
4) facial nerve abnormalities (part of the 2nd brachial arch)
5) can have normal intelligence, mild intellectual disability

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94
Q

audiological findings in treacher collins

A

-malformed pinna and external canal atresia
-absent or malformed ossicles, especially the stapes
-complete absense of the ME cavity that could be filled with connective tissue
-mild to moderate bilateral conductive HL
-SNHL is rarely reported

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95
Q

what are some treatments for treacher collins

A

-Requires multidisciplinary approach
-Cleft palate repaired at 9 to 12 months of age
-Hearing loss treated by bone conduction amplification or BAHA
-Speech therapy and educational intervention

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96
Q

what is a differential diagnosis for treacher collins

A

oculo-auriculo- veterbral spectrum (OAV) disorder

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97
Q

what does branchio-oto-renal (BOR) syndrome affect?

A

Affects structures developing from branchial arches, ears, & kidneys

98
Q

what is the second most syndrome of AD HL

A

Branchio-Oto-Renal (BOR) Syndrome

99
Q

what are some clinical features seen in Branchio-Oto-Renal (BOR) Syndrome?

A

-Renal anomalies (65% to 80%) including large, polycystic kidneys
-Facial nerve anomalies reported in < 5% of individuals but rarely leads to facial paralysis

100
Q

what are some audiologic findings in branchio-oto-renal (BOR) syndrome?

A

-Conductive, SNHL, or mixed hearing loss (90%)
-Persistent branchial cysts/fistulas (60%), commonly present in lower 1/3 of the neck
-Malformation of pinna (35%)
-External auditory canal stenosis (30%)
-Ossicular deformities including stapes fixation
-Deformities of the inner ear including -
Mondini’s malformation
-Vestibular anomalies rare and include reduced caloric response

101
Q

what type of hearing loss can be seen in branchio-oto-renal syndrome?

A

all 3 different types of HL can be seen in members of the same family
-HL can be delayed onset, but it’s rarely progressive

102
Q

can branchio-oto-renal syndrome affect pregnancy? if yes then how?

A

-Oligohydramnios (Also called Potter’s syndrome)
-It means too little amniotic fluid, which can affect the development of the fetus
-After about four months of pregnancy, the kidneys of a normal fetus will produce amniotic fluid
-If the fetus has kidney abnormalities, the amount of amniotic fluid may be too low
-Fetal genetic conditions that can cause oligohydramnios are:
-autosomal dominant: polycystic kidney disease (BOR)
-autosomal recessive: polycystic kidney disease

103
Q

summary of characteristics findings in BOR are

A

-Autosomal dominant transmission with variable expressivity
-Renal abnormalities of varying severity
-polycistic, large ugly kidneys
-Unilateral or bilateral preauricular pits
-External ear anomalies
-Unilateral or bilateral branchial fistulas
-Hearing loss that can be
-SNHL, conductive or mixed

104
Q

are oculo-auriculo-vertebral spectrum sporadic gene mutations ?

A

yes

104
Q

what is a differential diagnosis for branchio-oto-renal syndrome

A

alports syndrome

104
Q

are chromosomes normal in oculo-auriculo-vertebral spectrum normal ?

A

yes

105
Q

where does oculo-auriculo-vertebral develop from?

A

the 1st and 2nd branchial arches

106
Q

what are some clinical feature seen in oculo-auriculo-vertebral spectrum

A

-Facial asymmetry is the predominant presentation
-Unilateral facial and mandibular hypoplasia, and cleft palate common
-Even with bilateral involvement, one side of face more severely affected
-Nearly all cranial nerves involved including VII N resulting in facial weakness or paralysis
-Congenital cardiac anomalies are common
-Vertebral anomalies include scoliosis, spina bifida, and rib anomalies
-Mental retardation is uncommon
-The life span is normal
-Deafness/blindness in one or both ears/eyes can occur
-Internal organ(s) can either be unilaterally absent or underdeveloped

107
Q

what are some audiological findings in oculo-auriculo-vertebral spectrum

A

-Pinna anomalies including preauricular tags, microtia, stenosis of EAC
-Conductive hearing loss more common but rarely SNHL can occur

108
Q

what is a differential diagnosis for oculo-auriculo-vertebral spectrum?

A

treacher collins syndrome
it differentiates in this one is unilateral and treachers is bilateral

109
Q

what does C.H.A.R.G.E association/syndrome stand for

A

-Coloboma of the eye
-Heart defects
-Atresia of nasal choanae
-Retarded of growth and/or -development
-Genital and/or urinary abnormalities (hyogonadism)
-Ear anomalies and/or deafness (typically SNHL and progressive)
-External ear anomalies (maybe too floppy to support HAs)
-Ossicular malformations with almost universal ET dysfunction
-Mondini anomaly
-Hypoplastic semicircular canals with balance issues
-Considered a deaf/blind syndrome although complete deafness or blindness is uncommon

110
Q

What is the most common AUTOSOMAL RECESSIVE syndrome in HL?

A

Ushers syndrom

111
Q

what is the prevalence among profoundly deaf children for ushers?

A

3-8% of deaf people have ushers

112
Q

what is the prevalence of ushers in deaf and blind?

A

50%

113
Q

what is the heredity for ushers?

A

-Autosomal recessive; consanguinity often reported
-Multiple genes and multiple chromosomes involved
1)One Ush type I gene mapped to chromosome 11p14
2)One Ush type II gene mapped to chromosome 1q
3)One USH type III gene mapped to 3q21-25

114
Q

ifa mutation occurs, what is going to be affected in ushers syndrome?

A

-the development and maintainence of the HC along with the structure and funtion of the rods and cones

-These genes have instructions for making proteins (e.g., myosin) that play important roles in the development and maintenance of hair cells
-In the retina, these genes are involved in determining the structure and function of rods and cones
-Most mutations responsible for Usher syndrome lead to loss of hair cells in the inner ear and gradual loss of rods and cones in retina

115
Q

what symptoms are seen in ushers?

A

-Intellectual disability and psychosis
-Hearing loss can be mild to severe progressive SNHL
-The most common symptoms are progressive hearing loss and blindness associated with retinitis pigmentosa (RP), which typically develops during the 2nd decade
-progressive loss of vision

116
Q

what is retinitis pigmentosa and where is it seen?

A

-it’s seen in ushers
-It is the scarring of the retinal pigment layer with uneven gathering of pigment into clusters
-Regions initially affected are at the periphery of the retina and then progresses towards the macula or center

117
Q

how many types of ushers are there?

A

3

118
Q

what does type 1 usher’s look like

A

-Congenital severe-to-profound SNHL
Traditional amplification is ineffective
- -Abnormal vestibular function and gait ataxia
-Delayed motor milestones
-hearing aids dont work

119
Q

what does ty[e 2 ushers look like ?

A

-Congenital mild-to-severe SNHL
-HAs are effective
-Normal vestibular function

120
Q

what does type 3 ushers look like?

A

Type III (rare)
Progressive SNHL with progressive vestibular dysfunction
In the U.S., types I and II are the most common

121
Q

what is a differential diagnosis for ushers syndrome?

A

morrie syndrome and disorders with retinitis pigmentosa and SNHL

122
Q

what are other retinis pigmentosa and HL syndromes?

A

-hallgren syndrome
-cockayne syndrome (rare)
-alstrum syndrome
-refsum syndrome

123
Q

what does hallgreens syndrom look like?

A

Generalized ataxia, pigmentary retinopathy, and SNHL

124
Q

what does cockayne syndrome look like ?

A

Associated dwarfism and motor disturbances

125
Q

what does alstrum sundrome look like?

A

-Associated diabetes mellitus
-Blindness sets in by ~ 20 years of age

126
Q

what does refsum syndrome

A

-Triad of retinitis pigmentosa, peripheral polyneuropathy, and ataxia
-SNHL, which is often asymmetrical
-Defect in phytanic acid metabolism; treatable with dietary changes

127
Q

what is the seen in norrie syndrome?

A

Visual problems, associated with SNHL and dementia

128
Q

what is the heredity for norrie syndrome?

A

-x linked recessive inheritance
-boys will manifest the phenotype because the girls have the other good X to balance it out (so girls end up being carriers)

129
Q

what is some clinical features seen in norrie syndrome

A

-Typical onset, is in the early 2nd decade
-Most common cause of congenital retinal detachment
-Congenital progressive blindness generally not caused by retinitis pigmentosa
-Cataracts and atrophy of iris visible to even the casual observer
-CNS involvement
-intellectual disability
-seizure
-psychiatric disorders reported but not for all cases

130
Q

what are the audiologic findings in norrie syndrome ?

A

-Progressive moderate to severe SNHL developing at about ~ 10 years in ~ 30% of patients
-Flat or sloping configuration
-Histopathologic studies reveal atrophy of the stria vascularis w/ degeneration of hair cells and cochlear neurons

131
Q

what is the prognosis of norrie syndrome?

A

-Poor with universal blindness
-Progressive SNHL in about 30% of cases
-Infantile psychosis that is progressive
-During middle age, psychosis and hallucinations are common

132
Q

what is the differential diagnosis for norrie syndrome ?

A

1)cytomegavirus (CMV) infection:
-can cause neurological, psychological, hearing and vision problems and alot of them only have onlyv HL
2) Rubella
-german measles
3)Ushers syndrome (HL and blindness not because of retintitis pigmentosa but the CNS involvement is specific to norrie syndrome

133
Q

what is the inheritance of crouzon’s syndrome ?

A

-Autosomal dominant transmission
-Spontaneous mutations fairly common and of paternal origin

134
Q

what is crouzon’s syndrome ?

A

Dysostosisis a disorder of the development of bone, particularly affecting ossification

135
Q

what are clinical features seen in crouzon’s syndrome ?

A

-Early fusion of cranial bones causes
-Marked cranial and facial deformities
-Abnormal shape of the head and appearance of face
-A major problem is maxillary hypoplasia
-Bulging eyes/vision problems caused by shallow eye sockets
-Mild ocular hypertelorism (increased space b/w eyes), orbital proptosis
-Occasional cleft lip and palate
-mental status is normal

136
Q

what are audiologic findings seen in crouzons syndrome ?

A

-atresia of EAC w/ ossicular deformity
- -you use a baha because they have no ear canal
-absent or narrowed oral and/or round window
-conductive HL is common but mixed HL also reported
-vestibular system is normal cause the hair cells are normal

137
Q

what is the inheritance of sticklers syndrome

A

-Autosomal dominant with variable expressivity
-Collagen disorder affecting architecture of collagen-based tissues
-Virtually all mutations involve premature stop codons (nonsense mutations)
-reason why it happens is because it prematures stop codons

138
Q

how many types of stickler are there

A

3

139
Q

what are clinical features seen in sticklers syndrome ?

A

-Characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems
-~30% show premature degeneration of joints leading to skeletal/joint abnormalities beginning in the 3rd or 4th decade
-Flat mid face and occasionally cleft or high arched palate
-Severe myopia; cataracts and glaucoma can occur but blindness rare

140
Q

what are some audiologic findings in sticklers ?

A

Associated with a mixed or progressive high frequency SNHL
Hearing loss is reported in 60% of patients with type 1 patients and 90% in patients with sticklers type 2

141
Q

what is achrondroplasia ?

A

It is a form of short-limbed dwarfism
-torso is normal but the limbs are short

142
Q

is achondroplasia dominant or recessive ?

A

AD inheritance is demonstrated

143
Q

can achodroplasia be lethal ?

A

yes because both parents are giving it to the child, homozygosity plays a part

144
Q

what are some mutation problems seen in achondroplasia ?

A

The mutation causes problems in converting cartilage to bone (ossification), particularly in the long bones of the arms and legs

145
Q

what are some clinical findings in achondroplasia ?

A

-An average-size trunk with short arms and legs
-Enlarged head and frontal bossing
Short stubby hands
-Legs frequently bowed of because lax knee ligaments
-Intelligence is generally normal
-Lordotic lumbar spine with prominent buttocks
-Short and narrow pelvis
-Reproductive fitness reduced primarily because of social difficulties in finding a mate (how hard or easy it is to have children)
-achondroplasia women tend to have premature babies and problems during delivery because of the abnormal pelvis

146
Q

what are some audiologic findings in achondroplasia ?

A

–90% have a history of ear infections with 70% of those being a conductive hL
-otosclerosis is also reported

147
Q

is osteogenesis imperfecta dom or recessive?

A

Autosomal dominant inheritance

148
Q

what are some clinical findings seen in osteogenesis imperfecta

A

Generalized connective tissue disorder characterized mainly by bone fragility
-Multiple bone fractures, usually resulting from minimal trauma (bones break easily)
-Fractures are rare in the neonatal period
-Fracture tendency is constant from childhood to puberty, then decreasing till menopause in women and 6th decade in men
-Blue sclerae
-Cardiovascular problems such as valvular insufficiency
-Conductive or mixed hearing loss in ~ 50% of families
-it starts in the late teens and progresses gradually to profound deafness
- tinnittis and vertigo by the end of theiy 40s and 50s

149
Q

what is alports syndrome?

A

Nephritis (kidney issues) and sensorineural hearing loss

150
Q

what is the heredity of alports ?

A

-Heterogeneous, with most cases X-linked dominant or recessive-85%
-AR - 15%
-AD -1 to 5%

151
Q

what causes alports ?

A

Classic Alport syndrome is due to a defect in type IV collagen COL4 gene responsible for the formation of
-cells of spiral ligament, basilar membrane, stria vascularis,
-lens of the eyes
- glomerull of the kidneys

152
Q

what are some clincal findings in alports

A

Characterized by progressive glomerulonephritis with intermittent hematuria (blood in urine) and SNHL

153
Q

what are some audiologic findings in alport syndrome

A

bilateral variable progressive intitially high freq SNHL at the beginning of their life (10-20 year olds)
-normal vestibular function (except in some case of autosomal dominant forms)

154
Q

what can be seen in kidney inflammation in alports syndrome?

A

-hematuria
-ALBUMINURIA (a protein, if it’s in urine then it means you have poor kindey problems)
-and progressive kidney failure
-hypertension

155
Q

what are eye findings in alports syndrome ?

A

-congenital cataracts and corneal erosion (eye problems)
-retinopathy
some have it an some don’t

156
Q

can people due of alports

A

yes in their 20s to 40s because of the hypertension and renal failure

157
Q

what criteria must be met in order to be diagnosed with alports

A

you must meet 3 out of the 4 conditions
1)Positive family history of hematuria with or without renal failure
2)Electron microscope evidence of renal disease on renal biopsy
3)Characteristic opthalmologic signs
-In X-linked form
-Characteristic lens abnormalities and central retinopathy
-High frequency SNHL progressive during childhood

158
Q

what is a differential diagnosis for alports

A

-brachial-oto-renal (bor)
-both have kidney issues, hemotinuralm and hl
they’re different because bor affects the arches and alports doesnt

159
Q

How is ANSD defined operationally?

A

-OAEs are normal but reflexes aren’t
-senosry cells are intacts and fuctions ( IHC and OHC are normal) but the 8th nerve fibers and synapse are affected. They have even a harder time listening to noise

-Intact otoacoustic emissions (although sometimes they may disappear later in the condition)
-OAEs related to OHC function; OHCs intact in ANSD
-Or present cochlear microphonic (CM) with absent emissions
-CM also shows activity from OHCs through a different mechanism
-Grossly abnormal/absent ARTs, electrocochleography (ECochG), and ABR responses

160
Q

what is something to important to remember in ANSD?

A

Severe impairment of speech perception especially in noise because of disruption of synchronous VIII N firing

161
Q

is ansd genetic or environmental

A

it’s both

162
Q

how does ANDS look like in a nonsyndromic condition?

A

-Observed in families or
-No other family member may be affected
-Autosomal recessive mode of inheritance!!!!!!!!!!!!!!!!!!! BOLDDDDDD
-Abnormal gene copy inherited from each parent

163
Q

how does ansd look like in a syndromic condition

A

Often associated with peripheral neuropathies
-ex charcot-marie-tooth syndrome and friedreich axia

164
Q

how is the a mitochondrial mode of inheritance affect ANSD ?

A

the affected females will have affected offspring but the affected male wouldnt

165
Q

what is the environmental cause in ANSD

A

-In the conditions described below, if the arterial supply is affected then OHCs will be affected and OAEs can be absent
-Infectious disorder due to viral involvement
-E.g., mumps and measles (can be unilateral)
-Immune disorders can be accompanied by deafness typical to ANSD (Rance & Starr, 2011)
For example, Guillian-Barre syndrome
-Affects proximal nerve roots and proximal portions of VIII N
-Deafness and paralysis with a lengthy period of recovery

166
Q

do hearing aids work for ANSD

A

yes but it’s limited. it works if there residual hearing
it could reduce the effects of noise, distance, and reverberation in a space

167
Q

how can we manage education in ansd?

A

-auditory and visual stimulation
-Manual communication with cued speech or ASL
-Formal education method to facilitate literacy/self-dependence

168
Q

what is the most successful form of treatment in ansd

A

CI

169
Q

are audiograms helpful in ansd?

A

NO
because its based on the HC and ansd is not based on the hc so you cant make any judgements so you need to do reflexes cause their absent and oaes to see if they’re present

170
Q

what is charcot marie tooth disease

A

-One of the most common inherited neurological disorders
type 1A is the most common

171
Q

how can charcot marie tooth be transmitted ?

A

Can be inherited as AD, AR, or X-linked recessive transmission

172
Q

how is charcot marie tooth characterized ?

A

-It is a progressive neurodegenerative disease characterized by polyneuropathy (will get worse over time)
-it affects both motor and sensory nerves
-Absent limb reflexes
-Chronic degeneration of peripheral nerves causing muscular atrophy
-muscles are wasting soldemly seen abovethe elbows and mid thighs
Age of onset typically between 12 to 20 years
THERE IS NO ESCAPE OF GETTING THIS, IT’S 100% PENETRENCE

173
Q

what are some audiologic findings in charcot marie tooth disease?

A

-SNHL with onset either in childhood or adulthood
-Hearing loss is slowly progressive
-Hearing loss maybe caused by auditory neuropathy due to demyelination of CN VIII

174
Q

what is the most common form of autosomal recessive ATAXIA

A

friedreich ataxia

175
Q

what is the heredity of friedreichs ataxia

A

Autosomal recessive neurodegenerative disorder

176
Q

what are come characteristics of friedreich ataxia

A

-The disorder is usually manifest before adolescence
It is characterized by :
-Incoordination of limb movements
-Dysarthria
-Nystagmus
-Diminished or absent tendon reflexes and
-Babinski sign
-Impairment of position and vibratory senses
-Scoliosis, pes cavus (abnormally high foot arch), and hammertoe
-Cardiomyopathy
-Abnormalities in motor and sensory nerve conduction, including CN VIII and CN II, which cause hearing loss and visual impairment

177
Q

what do you need to be diagnosised with friedreichs ataxia ?

A

-hyperactive knee and ankle reflex
-progressive cerebellar dysfunction
-preadolescent onset

178
Q

is hereditary sensory and autonomic neuropathy type 1 dom or recessive

A

dom and a rare disorder

179
Q

how is Hereditary Sensory and Autonomic Neuropathy, Type 1 characterized

A

-Adult-onset (~ 37 yrs.) of progressive
-SNHL progressing to deafness
-Early-onset dementia

-Sensory neuropathy by 20 to 35 years resulting in lack of feelings in toes and ulceration, in some cases requiring amputation

-Generally an early death by the 4th to 5th decade, is reported

180
Q

is neurofibriomatosis dom or recessive

A

dom with high penetrance and variable expressivity (phenotype varies)

181
Q

what are some characteristics in neurofibrosis type 1

A

Cafe-au-lait spots
-coffee spots
-Cutaneous & subcutaneous fibromatous tumors
-Highly vascular tumors that increase in number to as many as a thousand during a lifetime
-Usually appear around puberty
-Infiltrate surrounding tissue causing serious abnormalities and deformities
-Lisch nodules in the eye
-Pigmented hamartomatous (benign tumor) nodular aggregate of dendritic melanocytes in the iris found in 94% of NF1 cases
-About 5% demonstrate VIII N tumors

182
Q

what is the percentage of incidence in neurofibrosis 2

A

50% genetic (AD) and 50% spontaneous mutation
100% (complete) penetrance

183
Q

what can be seen in neurofibrosis 2

A

Characterized by a progressive disabling/disfiguring course

Less than half (~ 43%) demonstrate café au lait spots
-0% presents more than 6 spots

184
Q

what are some symptoms seem in neurofibrosis 2

A

-Benign, multilobulated, non-encapsulated tumors
-Over 95% present with bilateral acoustic neuromas
-At a higher risk for other intracranial tumor such as meningioma, astrocytomas, ependymomas, and glioma
-Progressive visual loss is common
-Intelligence is not impaired
-Emotional consequences and devastating communication disorder

185
Q

what diagnosis can we do for neurofibrosis ?

A

-Audiologic and vestibular assessment
-CT scans and MRI with contrast

186
Q

what is a differential diagnosis for Neurofibrosis 2?

A

neurofibrosis 1
vestibular shwanomma

187
Q

what is a give away that neurofibrosis is present?

A

there are multiple BILATERAL vestibular schwanoma

188
Q

how can we manage neurofibrosis?

A

-Surgery, which necessitates destruction of the VIII nerve which renders patients deaf, often for both ears
-Even after surgery, these tumors can recur
-Cochlear implants are not an option as there is no nerve to electrically stimulate
-The only current management option is an auditory brainstem implant (ABI)

189
Q

what is the heredity for Jervell and lange nielsen syndrome (JLNS)

A

-3rd most common RECESSIVE syndromic HL
-Consanguinity reported
-When the JLNS gene behaves in an AD fashion (compound heterozygous mutation), carrier parents also may die suddenly due to cardiac problems

190
Q

what are the clinical features seen in JLNS ?

A

Long-QT interval (>500 ms) on the EKG with functional heart disease, congenital deafness, and sudden death

191
Q

Why is the QT interval elongated in JLNS?

A

-Long QT caused by cardiac muscles that take longer than usual to recharge between beats
-Syncopal (fainting) episodes and/or sudden death
-In most cases, syncopal attacks are precipitated by fear, excitement, physical exertion, and loud noises
-Patients need to be under the care of a cardiologist and treated
-Congenital deafness
-Bilateral severe-to-profound SNHL
-Complete degeneration of organ of corti
-Loss of sensory hair cells
-Generally no vestibular symptoms reported
Seizures reported in some cases

192
Q

What is sudden infant death syndrome supposedly related with?

A

JLNS but more info is needed to confirm

193
Q

Should JLNS be genetically tested

A

YES BECAUSE THERE IS A CARDIAC CONCERN

194
Q

how can we manage JLNS?

A

-eliminate fear and excitement
-Stress, exercise and drugs
-cardiac consult

195
Q

What is a differential diagnosis for JLNS ?

A

Ward-Romano syndrome

196
Q

What is the incidence of Pendred Syndrome?

A

-Second most common form of RECESSIVE syndromic deafness
-Accounts for about 5 to 8% of all individuals with profound hearing loss
-Phenotypic variability within families

197
Q

What are some clinical features seen in pendreds ?

A

-The main feature is a thyroid goiter (80% of affected individuals)
-Delayed onset, typically not present at birth but may present by early puberty
-Hypothyroidism (low thyroid hormones) is reported in about 40% of affected individuals

198
Q

What are audiologic findings ?

A

-SNHL (100%) that is usually profound and rapidly progressive
-Can be variable in onset and can be unilateral
-More severe in the higher frequencies
-Abnormality of bony labyrinth and radiographic malformations of the inner ear often associated with Mondini malformation (< 2.5 turns of the normal cochlea)
-Abnormally wide or absent vestibular structures
-Abnormal vestibular function in majority of cases including vertigo may be present
-Enlarged vestibular aqueduct (EVA) diagnosed on CT scan (85%)

199
Q

what is a differential diagnosis for pendreds?

A

-DFNB4 is a mutation of the SLC26A4 pendrin gene characterized by
-Prelingual profound nonsyndromic SNHL and temporal bone abnormalities, typically EVA
-no thyroid enlargement

200
Q

whar are some audiologic findings in an enlarged vestibular aquaduct?

A

-EVA is the most common anatomic abnormality contributing to permanent hearing loss in children
-EVA causes variable audiologic phenotypes, including
-Unilateral or bilateral SNHL hearing loss
-Moderate to profound, often with progression or fluctuation
-Vestibular symptoms like paroxysmal vertigo may also occur

201
Q

do newborns with enlarge vestibular aqueducts hpass their new born hearing screenings ?

A

YES, they aren’t typically diagnosed until 3-4 years old

202
Q

how can patients reduce the likelihood of progressive HL in enlarged vestibular aqueduct?

A

-Should avoid contact sports that might lead to head injury
-Wear head protection when engaged in activities such as bicycle riding or skiing that might lead to head injury
-Avoid situations that can lead to barotrauma (extreme, rapid changes in air pressure), such as scuba diving or hyperbaric oxygen treatment

203
Q

is there any treatment for enlarged vestibular aqueduct?

A

-No treatment has proven effective in reducing the hearing loss associated with EVA or in slowing its progression

204
Q

what does DIDMOAD/ wolfram syndrome stand for ?

A

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, SNHL (Deafness)
(has nothing to do with blood sugar

205
Q

what is seen in DIDMOAD syndrome ?

A

-Diabetes insipidus (DI) is an uncommon condition in which the kidneys are unable to prevent the excretion of water
-DI is caused by either the kidneys not responding to the antidiuretic hormone (ADH) or lack of ADH produced by the hypothalamus

206
Q

what are audiologic and vestibular findings in DIDMOAD/wolfram syndrome ?

A

-Bilateral, sensorineural, slowly progressive hearing loss (60-85%)
-Onset in 2nd decade of life with atrophy of the stria vascularis
-Reduced excitability of the vestibular system is reported

207
Q

what is mucopolysacchroidoses ?

A

-lysosomal storage diseases caused by various enzyme deficiencies that catalyze the breakdown of glycosaminoglycans (mucopolysaccharides)

208
Q

Mucopolysacchroidoses is recessive, dom, or x-linked ?

A

autosomal recessive except for MPS II (Hunter syndrome), which is X-linked

209
Q

what are audiotry syndrome in mucopolysacchroidoses ?

A

-a conductive hearing loss caused by recurrent upper respiratory tract infection and serous otitis media
-Many patients also may demonstrate SNHL
-The auditory brainstem also has been described as abnormal in nonspecific ways

210
Q

how can we audiologically manage mucopolysacchroidoses ?

A

-pe tubes
-hearing aids for both conductive and SNHL

211
Q

what are early diagnosis seen in hurler syndrome?

A

-Coarse facial features
-Macroglossia (large tongue) and corneal clouding
-Characteristic skeletal deformities
-Dysostosis multiplex (skeletal abnormalities) & joint contractures
-Recurrent otitis media and hearing loss
-Intellectual disability
-Cardiac failure may occur prior to diagnosis
-Despite intervention, death by ~ 10 years
*IT’S SEEN AT EARLY AGE SO 16-18 MONTHS

212
Q

on a scale of mild to severe, how does hurler syndrome rank?

A

its manifestation is seen severe

213
Q

is hunter syndrome recessive or x linked ?

A

x linked

214
Q

what are clinical features seen in hunters ?

A

-Rapid intellectual deterioration
-Progression of dysostosis multiplex
-Coarsening of features similar to Hurler’s syndrome
-Abdominal hernia with protruding abdomen & chronic diarrhea
-Death between 10 to 15 years of age

215
Q

is biotinidase deficiency recessive, dom, x linked ?

A

recessive

216
Q

what is biotinidase deficiency ?

A

-In this disorder, biotin is not released from proteins in the diet during digestion resulting in biotin deficiency
-Treatable & preventable with biotin supplements

217
Q

what are some symptoms in biotinidase deficiency ?

A

-Seizures
Hypertonia and ataxia
-Developmental delay
-Skin rash
-Optic atrophy
-Deafness
-SNHL and visual impairments aren’t reversible once they develop

218
Q

why is early intervention important for biotinidase deficiency?

A

because all these symptoms can go away by supplements but this typically isn’t diagnosed early

219
Q

is waardenburg syndrome recessive, dom, x linked

A

-DOMINANT with variable expressivity
- caused by a deficit of neural crest cells

220
Q

how many waardenburgs are there

A

4 types

221
Q

what are audiologic and clinical findings in waardenbury type 1

A

-hearing loss
-lateral displacement of the inner angles of the eye
-unibrow
-high/broad nasal root
-irisis can be different colors

222
Q

what are some integumentary findings in warrdenburg 1 ?

A

-white forelocks
(partial albinism)
-premature graying of hair, eyebrows, and lashes
- frequency of occurrence of these range from 10-30%

223
Q

what are some audiologic findings in waardenburg 1?

A

-Bilateral or unilateral hearing loss of variable severity occurs in association with defects of neural crest cells
-The hearing loss can be profound with a corner audiogram or a moderate hearing loss in the low to mid frequencies
-Vestibular abnormalities are reported
-Atrophic changes in the spiral ganglion and VIII nerve
-Degeneration of the organ of corti
-Thickening of the basal membrane

224
Q

what are waardenburg syndrome 2 look like ?

A

-The same as type I except there is no lateral displacement of the inner angles of the eye
-Unilateral hearing loss is less prevalent than in WS1

225
Q

what is seen in waardenburg type 3

A

upper skeletal extremities abnormalities

226
Q

what are 2 things to know about waardenburg 4 syndrome ?

A

-deafness
-Hirschsprung disease
A disorder of intestinal motility characterized by the absence of parasympathetic plexuses of the gut
-Aganglionic megacolon
-absence of the neural crest cells, the colon can’t contract but can expand
-Constipation

227
Q

what are the most common autosomal dominant syndrome?

A

1)waardenburg syndrome
2) branchio-oto-renal (BOR)

228
Q

what are the most common recessive syndrome ?

A

1)ushers
2)pendreds
3)jervell and lange nielsen syndrome (JLNS)

229
Q

what conditions contribute to ear changes ?

A

-treacher collins, branchio-oto-renal syndrome

230
Q

what conditions are involved with eye disease?

A

-ushers, norrie

231
Q

what conditions involve musculoskeletal issues

A

crouzon syndrome
sticklers

232
Q

what issues involve renal issues

A

alports

233
Q

what issues involve cardiac issues

A

jernells lange nielson

234
Q

what conditions involve neurologic/neuromuscular systems

A

friedreich ataxia

235
Q

what conditions involve issues with the endrocrine issues

A

pendreds

236
Q

what conditions involve metabolic issues ?

A

biotinidase deficiency
muccopolysacharidoses

237
Q

what issues involve the intergumentary system?

A

waardenburg

238
Q

what condition doesn’t involve mental or physical conditions

A

connexin hearing loss and deafness

AUDE 5310 (4 decks)

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