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Aural Rehabilitation > p.319 + genes pwpt & articles > Flashcards

p.319 + genes pwpt & articles Flashcards

1
Q

children should have HL diagnosed by

A

3 months of age

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2
Q

high-risk conditions

A
  • ECMO or chemotherapy
  • Cytomegalovirus infection
  • Syndromes that have progressive HL
  • Neurodegenerative disorders
  • Trauma
  • Postnatal infections associated w/ SNL HL
  • caregiver concern
  • Family Hx of HL
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3
Q

ECMO stands for

A

Extra Corporeal Membrane Oxygenation

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4
Q

ECMO is

A

procedure in which a machine outside of body delivers oxygen to a patient’s blood much like heart and lungs are supposed to (typically for infants in NICU who have health conditions complicating heart and/or lung fx)

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5
Q

cytomegalovirus

A

a member of the herpes virus family

One of the most common congenital infections & a leading cause of hearing loss at birth

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6
Q

If baby’s hearing loss is conductive

A

child may be referred to otolaryngologist and/or otologist

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7
Q

if baby’s HL is SL,

A

infant must be evaluated by otolaryngologist who specializes in children with HL
AND
infant & family should be referred for Genetics Consultation and to pediatric ophthalmologist for Visual Acuity Examination

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8
Q

origin of congenital or early-onset deafness

A

More than half are Genetic in origin

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9
Q

% of syndromic and nonsyndromic congenital genetic HL

A

25% syndromic

75%Nonsyndromic

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10
Q

Syndromic HL

A

occurs with other signs & symptoms

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11
Q

nonsyndromic HL

A

usually occurs as the only disability

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12
Q

chromosomal abnormalities

A

occur when there is either too much or too little genetic information
OR
material that is in wrong place

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13
Q

Genetic abnormalities also known as

A

mutations

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14
Q

genetic abnormalities

A

classified based upon whether they are located on an autosome or sex chromosome AND by inheritance pattern

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15
Q

dominant transmission

A

requires only one gene for the trait to be passed on

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16
Q

recessive transmission

A

requires that two copies of a gene are needed for a trait to be passed on

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17
Q

autosomal dominant disorders

A

have an inheritance pattern in which one parent has the genetic mutation,
expresses the disorder, and
has a 50% chance of passing it on to his or her children.

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18
Q

genotype

A

when a person has a trait in his or her genes (but doesnt necessarily present the trait)

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19
Q

phenotype

A

when a person presents the trait that in his or her genes

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20
Q

autosomal dominant HL

A

Not a surprise; knows it “runs in the family”

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21
Q

autosomal dominant HL is presents itself in

A

mild or severe form (variation in expressivity)

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22
Q

decreased penetrance

A

mild form of autosomal dominant disorder

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23
Q

autosomal recessive disorders

A

occurs when both parents are carriers of the genetic mutation, but
usually do not express it, and
have a 25% chance of having a child with the disorder, 50% chance of the child being a carrier, and 25% chance of child being normal.

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24
Q

autosomal recessive HL

A

is usually a surprise to parents

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25
Q

most common nonsyndromic cause of genetic HL

A

mutation of the connexin 26 gene (GJB2) (inherited mostly in autosomal recessive mode)

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26
Q

dual sensory impairment

A

simultaneous ocular and auditory impairment

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27
Q

a recessively transmitted genetic condition that includes congenital HL and a progressive loss of vision (dual sensory impairment)

A

Usher syndrome

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28
Q

most common sensory impairment in humans

A

deafness

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29
Q

incidence of HL in children

30
Q

how many genes involved in HL?

A

many different genes involved, but single gene mutations are most common

31
Q

exogenous

A

outside the genes-acquired

32
Q

endogenous

A

inside the genes

33
Q

examples of exogenous causes of HL

A
  • Ototoxicity
  • Excessive Noise Exposure
  • Inflammatory disease
  • Trauma or Injury
34
Q

examples of endogenous causes of HL

A

Inherited trait- (Genetic)

35
Q

HL can be characterized as

A

congenital (at birth)
hereditary (genetic)
acquired (exogenous)

36
Q

Approx 1/2 of all Auditory disorders are due to

A

Hereditary factors (endogenous)–genetic causes

37
Q

Approx___#__ distinct syndromes can include hearing impairment

38
Q

Pendred syndrome

A
  • Thyroid/goiter
  • abnormality in iodine
  • severe HL overe 50% of the time
  • need more comprehensive blood test to detect
  • hearing problems at birth, gets worse in childhood
  • Hearing deteriorates from minor knocks to head (mild loss can become profound if bumped into at school)
  • swelling at neck caused by enlarged thyroid
39
Q

Usher syndrome

A

Can leave people deaf & produce HL
Have 10 diff genes that cause mutation
Most severe & slow deterioration of sight & loss of vision by age 10 & profound HL at birth
*early cochlear implantation would be crucial due to loss of vision

40
Q

Osteogenesis Imperfecta (OI)

A

Fractures in the absence of trauma (can be seen in family Hx)

  • mobility impairments
  • short stature (child not growing)
  • predisposition to fractures
  • little blue lining in pupil
  • Has Disorder of the Sensory System
  • Slow down of axonal to axonal reception
  • problems w/ walking & balance
41
Q

Modes of inheritance of hereditary deafness

A 
Dominant
Recessive
X-linked
Mitochondrial
or other
42
Q

One parent exhibits the inherited trait
50% chance that inherited trait will be transmitted
Presumed to cause 20% of endogenous deafness

A

Dominant inheritance

43
Q
  • Exhibits the inherited trait when the individual carries 2 similiar abnormal genes (1 from each parent)
  • if no abnormal gene exists, child is normal
  • if 1 abnormal gene exists, child is carrier of trait
  • if 2 abnormal genes exist, child is carrier and exhibits
  • Account for as much as 80% of childhood deafness
A

hereditary deafness

44
Q

Defective traits are located on the X chromosome
Males affected through carrier females
Approx 2-3%deafness occurs

45
Q

Small organelles in our cells that have their own DNA are known as mtDNA (we inherit all of our mtDNA from our mothers)

A

Mitochondrial

46
Q

doesnt follow same statistical probability as dominant/recessive patterns

A

mitochondrial

47
Q

abnormal transcription (missense mutation)

A

1 letter is replaced w/ incorrect chemical unit

48
Q

nonsense mutation

A

early stop in transcription

49
Q

Connexin 26 genes can be

A

recessive or dominant

50
Q

Hair cell degeneration & hereditary deafness

A

Hair cell degeneration not normally cause of hereditary deafness.
hair cells may have developmental or functional defects that cause hearing impairment & lead to 2ndary hair cell degeneration

51
Q

gene therapy

A

permit productions or repression of ‘proteins’

  • slow or increase rate of cell growth
  • inhibit or induce viral replication
  • increase or decrease cell death
52
Q

gene mapping

A

identifying the chromosomal location of the gene

53
Q

localization

A

isolating the defective gene (which may be in more than 1 place)

54
Q

limitations of gene Tx development

A
  • no side effects of a treatment be worse than disease being treated
  • Hearing disorders tend not to be life threatening
55
Q

Studies on gene Tx

A
  • current studies involve genes that protect cochlea from degeneration
  • difficult to find gene therapy approaches that can repair developmental defects in the embryo (complex development of inner ear)
  • normally deals with genetic defects that result in degeneration of cochlear structures AFTER they have been developed
56
Q

Genes are composed of a specific sequence of units of the following chemical units

A

Adenine (A)
Guanine (G)
Cytosine (C)
Thymine (T)

56
Q

Genes are composed of a specific sequence of units of the following chemical units

A

Adenine (A)
Guanine (G)
Cytosine (C)
Thymine (T)

57
Q

genes involved in the structure & f(x) of the ear

A

10% of 30,000 genes

57
Q

genes involved in the structure & f(x) of the ear

A

10% of 30,000 genes

58
Q

% of endogenous & exogenous causes of HL according to ASHA leader

A

50-60% endogenous (hereditary)

40-50% exogenous (acquired)

58
Q

% of endogenous & exogenous causes of HL according to ASHA leader

A

50-60% endogenous (hereditary)

40-50% exogenous (acquired)

59
Q

% of non-syndromic HL according to ASHA leader

59
Q

% of non-syndromic HL according to ASHA leader

60
Q

% of syndroming HL according to ASHA leader

60
Q

% of syndroming HL according to ASHA leader

61
Q

syndromic HL

A

HL from a gene that affects multiple organs

61
Q

syndromic HL

A

HL from a gene that affects multiple organs

62
Q

When recessive genes for deafness are located on X chromosome

A

trait is inherited as X-linked recessive

62
Q

When recessive genes for deafness are located on X chromosome

A

trait is inherited as X-linked recessive

63
Q

mitochondrial inheritance

A

inheritance of a genetic mutation in the genes contained w/in mitochondria (only inherited from mother-egg cell)

63
Q

mitochondrial inheritance

A

inheritance of a genetic mutation in the genes contained w/in mitochondria (only inherited from mother-egg cell)

Aural Rehabilitation (7 decks)

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