Exam 1 Flashcards

1
Q

embryo

A

fertilization –> 9 weeks

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2
Q

fetus

A

10 weeks –> birth

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3
Q

neonate

A

birth –> 1 month

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4
Q

infant

A

1 month –> 2 years

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5
Q

gamete

A

sperm & egg

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6
Q
# of chromosomes in a gamete
(paired or unpaired?)
A

23 unpaired chromosomes

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7
Q

meiosis

A

specific cellular division process resulting in the haploid # of chromosomes

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8
Q

ovum has __ chromosomes + an __

A

22 chromosomes + an x

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9
Q

sperm has __ chromosomes + an __

A

22 chromosomes + an x or y

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10
Q

zygote

A

simple one-celled organism created when ovum and sperm come together

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11
Q

mitosis

A

everyday cell division

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12
Q

when does mitosis begin

A

after the first 24 hours

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13
Q

cellular division begins in __ processes

A

two

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14
Q

segmentation

A

cleavage of a cell / cell dividing and making another exactly like itself

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15
Q

blastomere

A

when you go from one cell –> two cells

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16
Q

morula

A

cluster of cells

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17
Q

when does a morula occur

A

at the end of 72 hours

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18
Q

how long is the morula period

A

6 days

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19
Q

At the end of 6 days the process changes from __ to __

A

segmentation , cell differentiation

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20
Q

cell differentiation

A

blastomere changes into a blastocyst

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21
Q

A morula becomes a __ during cell differentiation

A

blastocyst

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22
Q

blastocysts ___ not ___

A

replicate not duplicate

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23
Q

trophoblast

A

the outer layer of cells

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24
Q

what does the trophoblast become?

A

the placenta and umbilical cord

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25
Q

what is inside the trophoblast?

A

the inner cell mass

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26
Q

gastrulation

A

the inner cell mass turns itself inside out

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27
Q

When does gastrulation occur?

A

between the 9th and 12 day

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28
Q

Why is gastrulation important?

A
  • has to occur accurately or miscarriage

- changes from sturdy same celled organism to fragile

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29
Q

What happens after 12 days?

A

organism turns into embryonic disc

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30
Q

What are the three tissue layers of the embryonic disc?

A
  1. ectoderm
  2. mesoderm
  3. endoderm
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31
Q

ectoderm

A

outermost layer ; hair, skin, teeth, entire nervous system

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32
Q

mesoderm

A

middle layer ; middle connective tissue, bones, tendons, ligaments, blood vessels, musculature

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33
Q

endoderm

A

innermost layer ; “inner skin” , lines digestive tract, thoracic cavity, lining of lungs

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34
Q

What tissue layers are the heart derived from?

A

ectoderm & mesoderm

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35
Q

What tissue layers are the digestive derived from?

A

mesoderm with some ectoderm & endoderm

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36
Q

What are chromosomes made up of?

A

genes

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37
Q

genes

A

made up of strands of DNA

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38
Q

DNA

A

strand is made up of nucleotide pairs

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39
Q

What are nucleotide pairs made up of?

A

sugar/dexoyribose + phosphate

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40
Q

What are the nucleotides?

A

thymine, adenine, guanine, cytosine

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41
Q

T always goes with __

A

A

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42
Q

G always goes with __

A

C

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43
Q

Genes are the ___

A

blueprint/codebook

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44
Q

___ and ___ are coded in our genes

A

physical characteristics and behaviors

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45
Q

some genes carry a ___ and others act as ___

A

code , switches/activators

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46
Q

karyotype

A

literally a picture of the chromosomes

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47
Q

what is the largest chromosome in the set?

A

the first one

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48
Q

autosome

A

first 22 pairs of chromosomes

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49
Q

sex chromosomes

A

last two chromosomes (xx or xy)

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50
Q

Parts of a chromosome

A

q arm & p arm; 1/3 and 2/3

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51
Q

q arm

A

long arm

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52
Q

p arm

A

short arm/ petite arm

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53
Q

centromere

A

naturally narrow place on the chromosome

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54
Q

the arm gives you direction as to what part of the chromosome is ___ or ___

A

normal or abnormal

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55
Q

ex: 22 q deletion means…

A

something wrong with the 22nd chromosome on the q arm

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56
Q

genes appear on the chromosomes as ___

A

bands

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57
Q

dark bands

A

higher concentration of genes

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58
Q

light bands

A

lower concentration of genes

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59
Q

bands tell us

A

how closely packed the genetic material is

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60
Q

which chromosome is the smallest

A

y

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61
Q

mutation

A

error in replication; replicate is not an exact duplicate

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62
Q

once cell division begins, mutation is (more/less) likely

A

more

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63
Q

spontaneous mutation

A

mutation that simple occurs

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64
Q

inherited factor

A

one parent has a good copy, one doesn’t, the bad is inherited

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65
Q

teratogenic mutation

A

mutation caused by exposure to teratogens

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66
Q

monosomy

A

instead of two copies of a chromosome there is one

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67
Q

trisomy

A

there are three copies instead of two

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68
Q

deletion

A

deletion of certain section of the chromosome

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69
Q

inversion

A

the info is there, but it is in backwards, making it useless

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70
Q

translocation

A

genetic material is not where it is supposed to be on the correct gene so it doesn’t work

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71
Q

variable expression

A

we have exactly the same mutation but it differs in function and appearance

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72
Q

phenotype

A

how you looks, characteristics you can see

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73
Q

genotype

A

construction of the chromosome/genetics; not visible; may not affect the phenotype

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74
Q

incomplete penetration

A

an individual carrying a gene for a condition but no expression of that gene in the phenotype

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75
Q

my genetic material is not correct but it is not displayed in my phenotype (this is an example of what?)

A

incomplete penetration

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76
Q

autosomal dominant

A

the first 22 chromosomes; (+) + (-) = (+)

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77
Q

autosomal recessive

A

genes that do not show up in the offspring unless both parents carry the trait

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78
Q

x-linked

A

if there is something on the x chromosome of the mom, it is going to result in an abnormality

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79
Q

multifactorial mutations

A

something to do with the genetic material itself and the environment

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80
Q

chromosome analysis

A

analysis for finding where information is missing or incorrect on a gene

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81
Q

FISH

A

Florescence In Situ Hybridization; do blood draw, look at cells, and do chemical analysis on the cells

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82
Q

dysmorphology

A

the wrong shape; there is in an expression in the phenotype

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83
Q

Trisomy 21

A

there are 3 chromosomes in the 21st, small hands and feet, heart defect, palebral (difference in eyes) ex: down syndrome

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84
Q

Trisomy 13

A

extra copy of chromosome 13, polydactyly (extra fingers and toes), spin bifida, severe eye defects

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85
Q

Nostrils are also known as:

A

nares

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86
Q

One feature on the upper lip if the:

A

philtrum

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87
Q

The palatine processes are part of the:

A

maxilla

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88
Q

The eustachian tube connects the pharynx with the:

A

middle ear

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89
Q

the primary muscle of velar movement is:

A

the levator veli palatine

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90
Q

The muscles of the faucial pillars are:

A

palatoglossus and palatopharyngeus

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91
Q

The ruggae are:

A

transverse palatal ridges of mucosa

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92
Q

The teeth contained in the pre maxilla are the:

A

central and lateral incisors

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93
Q

The bones of the hard palate are joined at:

A

a midline raphe

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94
Q

The primary innervation of velopharyngeal closure is from:

A

CN X

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95
Q

The purpose of a genetics eval is to:

A
  1. make a diagnosis
  2. determine the course of a disorder
  3. determine risk of recurrence
  4. provide psychosocial counseling
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96
Q

One of the most important aspects of a genetics evaluation is:

A

getting a complete history

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97
Q

trisomy and monosomy are very serious in terms of infant mortality because:

A

more genetic information is wrong

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98
Q

Van der Woude Syndrome is common in CL/P. The chromosome involved and one of the frequent symptoms is:

A

C 1: Lip pits

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99
Q

Pierre Robin is a __ , not a __.

A

sequence, syndrome

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100
Q

Classic presentation of Stickler Syndrome includes early onset of:

A

osteoarthritis and myopia

101
Q

22q 11 syndrome is also known as:

A

velocardiofacial syndrome

102
Q

one of the distinguishing features of Apert’s Syndrome is:

A

syndactyly

103
Q

The primary feature of hemifacial microsomia is:

A

facial asymmetry

104
Q

autosomal dominance means:

A

more likely to be inherited

105
Q

resonance is determined by:

A
  1. size and shape of vocal tract
  2. function of the VP valve or port
  3. vocal quality
106
Q

When pitch rises, so does the:

A

larynx

107
Q

hypernasality is a:

A

resonance disorder

108
Q

hypernasality is due to abnormal coupling of the:

A

oral and nasal cavities

109
Q

hyponasality is the result of:

A
  1. blockage of resonance in the nose
  2. cold, allergy swelling nasal passages
  3. a physical obstruction in the nose
110
Q

Nasal Air Emission occurs when there is a failure to build up:

A

intraoral air pressure

111
Q

NAE often results in:

A
  1. short utterance length
  2. nasal grimace
  3. weak or omitted consonants
112
Q

hypernasality and NAE often cause a child to resort to:

A

compensatory-obligatory articulatory errors

113
Q

People with resonance disorders often try to compensate with the voice by using:

A

hyperfunctional voice productions

114
Q

obligatory arctic errors are ___.

A

on accident and flaws

115
Q

compensatory errors are ___.

A

on purpose and substitutions

116
Q

merging

A

process where one structure merges together

117
Q

when does merging occur?

A

4 - 6 weeks

118
Q

Fusion

A

separate structures get closer together and fuse together

119
Q

Branchial arches

A

protrusions in embryo; composed of protuberance and valleys

120
Q

5 pairs of branchial arches

A
  1. mandibular arch (1st arch)
  2. hyoid (2nd arch)
  3. thyrohyoid
  4. 4 & 5 not distinct or named
121
Q

Sequence

A

because this happens, then this happens; if this didn’t happen, that wouldn’t happen

122
Q

syndrome

A

single cause

123
Q

when does palatal development begin?

A

6 weeks

124
Q

4-way fuse

A

pre-maxilla, nasal septum, and palatal shelves

125
Q

Fusion of 4 structures starts __ and proceeds __.

A

anteriorly , posteriorly

126
Q

Timing of fusion

A

structures will not fuse if they are not together at time of cellular disintegration

127
Q

Cleft Lip

A

incomplete, complete, bilateral

128
Q

cleft alveolus

A

has to do with alveolar ridge

129
Q

cleft of primary palate

A

hard palate cleft

130
Q

cleft of the secondary palate

A

soft palate cleft

131
Q

submucous cleft

A

mucosa and soft tissue have fused but muscular sling did not form

132
Q

tenting

A

looks like sharp point of a tent instead of a smooth arch

133
Q

zona pellucida

A

“zone of light”, seen at the point of the tent, looks blue bc of veins, can be seen by shining a light through the baby’s nose

134
Q

bifid uvula

A

musculus uvulae did not come together at the midline raphe (may have no affect on speech)

135
Q

3 types of complete clefts

A
  1. unilateral
  2. bilateral
  3. incomplete
136
Q

Most common cleft

A

left unilateral cleft

137
Q

tooth buds are contained in the

A

pre-maxilla

138
Q

the palatine processes contain which teeth?

A

canines, cuspids, bicuspids, molars

139
Q

Front 4 Teeth

A

incisors

140
Q

deciduous dentition

A

baby teeth (A-J and K-T)

141
Q

adult teeth

A

32 teeth, includes wisdom teeth, (1-16 & 17-32)

142
Q

surfaces of the jaw

A

buccal, lingual, distal, and proximal

143
Q

overjet

A

front teeth are over the bottom teeth and the molar relationship is accurate, front teeth are sticking out in front of the bottom

144
Q

class I

A

crooked teeth, top molar should be 1/2 a tooth behind the bottom molar

145
Q

class II

A

overbite, top molar is directly above or slightly ahead of bottom molar; causes tongue thrust

146
Q

class III

A

underbite

147
Q

cross-bite

A

part of the jaw literally falls in, arch collapsed towards the tongue so teeth collapse in

148
Q

open bite affects __

A

articulation

149
Q

___ have the largest affect on speech

A

muscles

150
Q

what is the most important muscle of velar closure

A

levator veli palatine

151
Q

origin of the levator veli palatine

A

rises from the petrous portion of the temporal bone, courses anteriorly and inferiorly to meet its opposite

152
Q

function of the levator veli palatine

A

since it comes from behind the velum, when it contracts it pulls the velum backwards and up

153
Q

superior pharyngeal constrictor

A

muscle at the top of your throat where the VP closes

154
Q

origin of the musculus uvulae

A

posterior of the bony palate, courses posteriorly, and ends in the uvulae dangle; there is a L&R, elevates the soft palate

155
Q

tensor veli palatine

A

most important muscle for eustachian tube function, opens eustachian tube, wraps around hammulus, pulls down on the torus tubarius and the eustachian tube untwists

156
Q

VPI

A

velopharyngeal inadequacy

157
Q

3 types of VPI

A
  1. velopharyngeal insufficiency
  2. velopharyngeal incompetency
  3. velopharyngeal mislearning
158
Q

veloppharyngeal insufficiency

A
  • structural deficit

- reasons: velum too short, anatomical mismatch (can’t reach back wall)

159
Q

velopharyngeal incompetency

A
  • neurogenic etiology
  • velum is there but doesn’t work
  • neuromuscular cause (stroke, disease, apraxia)
160
Q

velopharyngeal mislearning

A
  • has adequate VP function
  • child has not correctly learned when the VP needs to be closed
  • fixed w/ therapy! not surgery
161
Q

symptoms of VPI/VPD

A
  1. hypernasality
  2. NAE
  3. development of compensatory articulacy errors
162
Q

hypernasality

A
  • ONLY used to describe VOWELS
  • voice quality
  • perceived most clearly on /i/ vowel
163
Q

NAE

A
  • nasal air emmission
  • happens on consonants, whether a consonant is intelligible or not
  • can’t impound oral pressure so air escapes through nose
164
Q

cognates for assessment

A

p/b, t/d, g/k, s/z, sh/zh, ch/juh

165
Q

compensatory errors are __

A

a choice! deliberately made!

166
Q

obligatory error

A
  • can’t close VP
  • child will snort or glottal stop
  • error may be hyper nasal or NAE
167
Q

assessing VPI

A
  • radiographic study
  • nasendoscopy
  • endoscopic visual exam
168
Q

radiographic study

A
  • x-ray

- videofluroscopy (moving x-ray), needs barium to coat tissue, not easy or effective for ch, exposure to radiation

169
Q

nasendoscopy

A

flexible scope passed through nose to watch the velum move, best choice! SLP can do it, less expensive

170
Q

22q 11

A
  • velocardiofacial syndrome
  • face is long and narrow
  • taking out adenoid pad will create hypernasality
171
Q

endoscopic visual exam

A

looks at VP function

172
Q

normal VP function

A

results in normal speech and resonance

173
Q

consistent VPD

A
  • surgical fix, therapy won’t work!

- if velum could function, it would

174
Q

inconsistent dysfunction

A
  • try therapy to see if you can make a difference

- conservative treatment = 6-8 weeks and then decide if you want to continue

175
Q

task-specific VPD

A
  • mislearning
  • functions most of the time
  • you know it works, so try to make it work all of the time
176
Q

irregular VPD

A
  • no predictable pattern
  • doesn’t show up on a specific phoneme
  • can you live w/ irregularity?
  • therapy may work, try before surgery
177
Q

abnormal resonance W/O VPD

A
  • almost always hypernasality
  • you can see VP close but there is still hypernasality
  • there is NO NAE
  • could be a timing issue (velum isn’t fast enough)
178
Q

4 things to look for during endoscopic exam

A
  1. patterns of closure
  2. type of patency
  3. approximate degree of patency
  4. location of patency
179
Q

4 patterns of closure

A
  1. coronal
  2. circular
  3. circular w/ PPW
  4. sagittal
180
Q

type of patency

A

what is moving and what is not

181
Q

approximate degree of patency

A
  • degree of closure
  • measure: small, med, large
  • patency = open
182
Q

location of patency

A
  • where latency occurs relative to breathing

- left, right, central, anterior, front, back, symmetrical, asymmetrical

183
Q

coronal pattern

A
  • most common closure pattern
  • in horizontal plane (horizontal movement)
  • velum comes up and closes against posterior pharyngeal wall
  • all movement is in the velum
184
Q

circular pattern

A
  • second most common closure pattern

- velum movement plus movement in lateral and posterior pharyngeal walls

185
Q

circular pattern w/ PPW

A

closure patterns on a continuum

186
Q

sagittal pattern

A
  • least common closure pattern

- velum stays in place and pharyngeal walls close to it

187
Q

Watterson-Mcfarlane classification categories

A
  • location of patency
  • normal (0-5%)
  • small (6-15%)
  • med (16-40%)
  • large (41-100%)
188
Q

visible patency

A

pink tissue then you see a big black hole

- can be seen when you shine a flashlight through the nose

189
Q

3 management of VPI/VPD

A
  1. pharyngoplasty
  2. speech appliance
  3. behavioral management (speech therapy)
190
Q

pharyngoplasty

A
  • pharyngeal flap
  • done through surgery
  • successful if it has a beneficial effect on speech
  • doesn’t need to be managed after surgery
191
Q

2 types of pharyngeal flaps

A
  1. superior

2. inferior

192
Q

procedure for pharyngeal flap

A
  • cut a piece of tissue from posterior pharyngeal wall
  • put it across the velum making a bridge across the opening
  • only cut 3 sides so tissue will not dehisce
193
Q

dehiscence

A

tissue dies because of no blood flow

194
Q

inferior flap

A

doesn’t work because it pulls down

195
Q

superior flap

A

cut tissue and one edge remains whole, bridge gets laid down

196
Q

lateral pharyngoplasty/sphincter pharyngoplasty

A
  • they don’t cut a flap
  • they use muscle in the posterior faucial pillar
  • creates channel under mucosa and put muscle through channel and attach it to itself in the middle
  • muscle is feathered out creating sphincteric closure (circular)
197
Q

muscle used in lateral/sphincter pharyngoplasty

A

palatoglossus

198
Q

who developed the lateral/sphincter pharyngoplasty?

A

Hynes

199
Q

why is timing of the flap important?

A

if you wait too long to do the surgery it will be too late for speech; glottal stops are very hard to get rid of

200
Q

augmentation

A

removal of overgrown adenoid pad, not a common surgery anymore

201
Q

complications of flap surgery

A

sleep apnea, bleeding, airway obstruction, death

202
Q

speech appliance

A
  • retainers, obturators, lifts, speech bulb
  • advantages: no risk, long term option, can get as early as 3 yrs, may stimulate growth
  • disadvantages: gagging, families object to it, requires more management
203
Q

types of speech appliances

A
  1. palatal obturator
  2. palatal lift (gets velum close enough so it doesn’t have to work as hard)
  3. obturator w/ speech bulb
204
Q

circumstances favoring speech appliance

A
  1. younger children (3,4,5 yrs)
  2. unknown etiology
  3. severe paralysis (flap won’t do anything so use appliance)
  4. severe arctic disorder-delay (try speech first)
  5. mild resonance imbalance
205
Q

3 functions of eustachian tube

A
  1. ventilation
  2. protection
  3. clearance
206
Q

hearing issues in CL/P

A
  • may need tubes
  • middle ear disease higher in CL/P
  • conductive hearing loss is higher
  • no relationship between type of CL/P and type of hearing loss
  • monitor ears and treat aggressively
207
Q

lip repair

A
  • 1st surgery done
  • closure of lip
  • cosmetic
208
Q

why is the lip repair done?

A

repairs muscular continuity and aesthetic component

- restores muscle function of orbicular oris

209
Q

rule of 10’s

A

10 lbs
10 weeks
10 grams of hemoglobin (oxygen carrying capacity in blood)

210
Q

NAM

A
  • nasal-alveolar molding

- pre-surgical method using tape to push down the nasal part of the nose and the columella

211
Q

3 types of cleft segment repairs

A
  1. straight line
  2. triangular flap
  3. millard rotation-advancement
212
Q

straight line repair

A
  • used to bring palatal segments together
  • tends to be too tight
  • scarring upper lip will affect growth
213
Q

triangular flap

A
  • remove tissue and remove notch, lengthening lip

- tennison-randall

214
Q

the triangular flap is also known as the

A

tennison-randall

215
Q

millard rotation-advancement technique

A

most common technique used!

  • lengthens lip w/o losing tissue
  • millard developed it
  • method is used for both unilateral and bilateral cleft lip repair
216
Q

palatal repairs

A
  • they do NOT go through the alveolus

- they repair the palate

217
Q

two types of palatal repairs

A
  1. one-stage

2. two-stage

218
Q

alveolar clefts

A

need a bone graft

219
Q

when is the one-stage palatal repair done?

A

10-24 months

220
Q

why is the one-stage palatal repair done early?

A
  • bc of sequential development (waiting will not allow speech practice to take place)
  • issue w/ sounds development
221
Q

free flap repair

A
  • tissue is cut from somewhere else

- problem: hair growth and less likely to dehisce

222
Q

4 types of one-stage repairs

A
  1. furlow z-plasty
  2. von langenbeck
  3. V-Y pushback/ Wardill pushback
  4. vomer flap
223
Q

furlow z-plasty

A
  • soft palate repair
  • sewing the nasal tissue in one direction and the oral tissue in another direction
  • muscle alignment under mucosa
224
Q

von langenbeck

A
  • soft tissue repair
  • lift up tissue from the sides, being careful not to cut too close to the bone (scarring), move up flap of tissue from each side of cleft and overlap it in the center
  • baby’s get a nasogastric tube after surgery for feeding
225
Q

V-Y Pushback/Wardill Pushback

A
  • soft tissue closure

- get tissue from the vomer, palatal shelves, and put in a dart, bringing the tissue towards the center

226
Q

two-stage repair

A

some still do it, most do one state, discredited procedure, done at 12 mos and then at 24 mos

227
Q

fistula

A

holes that develop after surgical repair

228
Q

what causes a fistula?

A

tissue dehiscence

229
Q

when do they usually find a fistula?

A

after they put a spreader in, the arch spreads further apart exposing the fistula

230
Q

do fistulas affect speech?

A

some do and some don’t. anterior fistulas will have little affect on speech

231
Q

a fistula is said to be functional if: ___, ___, or ___ can be pushed through it.

A

air, liquid or food

232
Q

orthognathic surgery

A

bone graft to the alveolus

- attempts to close the fistula are done at this time

233
Q

what surgery addresses mid face hypoplasia?

A

maxillary osteotomy

234
Q

3 types of maxillary osteotomy procedures

A
  1. Le Fort I
  2. Le Fort II
  3. Le Fort III
235
Q

Le Fort Procedures

A
  • have an effect on aesthetics
  • use “dog bones” for a firm graft
  • choose which one depending on how severe the mid face hypoplasia
236
Q

Le Fort I

A
  • done by oral-maxillary surgeon
  • entire alveolar ridge of the maxilla
  • cut the bone above the alveolar ridge and separate it
  • done through the mouth
  • cut upper lip and move the bone forward
237
Q

Le Fort II

A
  • done by oral-maxillary surgeon
  • comes up to the bridge of the nose and includes bridge
  • alveolar ridge and nose come forward
  • tissue is peeled up to the bridge of the nose
238
Q

Le Fort III

A
  • done by cranial surgeon
  • advancing up to the nose and upper jaw and also the skull
  • pulls the eye sockets forward
239
Q

distraction osteogenesis

A

brackets outside of the face that you turn everyday to fix hemifacial microsomia

240
Q

what is the organ that generates language?

A

brain

241
Q

syndromes with cleft as a symptom often affect __

A

cognition

242
Q

if ch w/ cleft have no syndrome and no cognitive delay, they will __

A

catch up

243
Q

for assessing auditory feedback use:

A
  • see-scape
  • octopus (listening tube) best!
  • mirror
244
Q

4 goals for speech therapy

A
  1. decrease velopharyngeal patency
  2. decrease NAE/increase oral pressure
  3. decrease hyper nasality
  4. decrease compensatory errors
245
Q

perception of the burden

A

cost, time, stigma

246
Q

socioeconomic burden

A

Isreal - social medicine
religion - acceptable or unforgivable
culture - bad karma

247
Q

our obligation as SLPs

A

to inform! (surgery, ear care, speech therapy)

248
Q

What should we tell parents to do with babies with CL/P?

A
  • talk to your baby all of the time
  • lots of experience to rich lang, vocal
  • reading, making sounds to the baby
  • don’t stop vocal play even if child doesn’t imitate
  • maintain child’s ears/hearing
  • stimulation