Exam 1 Flashcards
1
Q
embryo
A
fertilization –> 9 weeks
2
Q
fetus
A
10 weeks –> birth
3
Q
neonate
A
birth –> 1 month
4
Q
infant
A
1 month –> 2 years
5
Q
gamete
A
sperm & egg
6
Q
# of chromosomes in a gamete (paired or unpaired?)
A
23 unpaired chromosomes
7
Q
meiosis
A
specific cellular division process resulting in the haploid # of chromosomes
8
Q
ovum has __ chromosomes + an __
A
22 chromosomes + an x
9
Q
sperm has __ chromosomes + an __
A
22 chromosomes + an x or y
10
Q
zygote
A
simple one-celled organism created when ovum and sperm come together
11
Q
mitosis
A
everyday cell division
12
Q
when does mitosis begin
A
after the first 24 hours
13
Q
cellular division begins in __ processes
A
two
14
Q
segmentation
A
cleavage of a cell / cell dividing and making another exactly like itself
15
Q
blastomere
A
when you go from one cell –> two cells
16
Q
morula
A
cluster of cells
17
Q
when does a morula occur
A
at the end of 72 hours
18
Q
how long is the morula period
A
6 days
19
Q
At the end of 6 days the process changes from __ to __
A
segmentation , cell differentiation
20
Q
cell differentiation
A
blastomere changes into a blastocyst
21
Q
A morula becomes a __ during cell differentiation
A
blastocyst
22
Q
blastocysts ___ not ___
A
replicate not duplicate
23
Q
trophoblast
A
the outer layer of cells
24
Q
what does the trophoblast become?
A
the placenta and umbilical cord
25
what is inside the trophoblast?
the inner cell mass
26
gastrulation
the inner cell mass turns itself inside out
27
When does gastrulation occur?
between the 9th and 12 day
28
Why is gastrulation important?
- has to occur accurately or miscarriage
| - changes from sturdy same celled organism to fragile
29
What happens after 12 days?
organism turns into embryonic disc
30
What are the three tissue layers of the embryonic disc?
1. ectoderm
2. mesoderm
3. endoderm
31
ectoderm
outermost layer ; hair, skin, teeth, entire nervous system
32
mesoderm
middle layer ; middle connective tissue, bones, tendons, ligaments, blood vessels, musculature
33
endoderm
innermost layer ; "inner skin" , lines digestive tract, thoracic cavity, lining of lungs
34
What tissue layers are the heart derived from?
ectoderm & mesoderm
35
What tissue layers are the digestive derived from?
mesoderm with some ectoderm & endoderm
36
What are chromosomes made up of?
genes
37
genes
made up of strands of DNA
38
DNA
strand is made up of nucleotide pairs
39
What are nucleotide pairs made up of?
sugar/dexoyribose + phosphate
40
What are the nucleotides?
thymine, adenine, guanine, cytosine
41
T always goes with __
A
42
G always goes with __
C
43
Genes are the ___
blueprint/codebook
44
___ and ___ are coded in our genes
physical characteristics and behaviors
45
some genes carry a ___ and others act as ___
code , switches/activators
46
karyotype
literally a picture of the chromosomes
47
what is the largest chromosome in the set?
the first one
48
autosome
first 22 pairs of chromosomes
49
sex chromosomes
last two chromosomes (xx or xy)
50
Parts of a chromosome
q arm & p arm; 1/3 and 2/3
51
q arm
long arm
52
p arm
short arm/ petite arm
53
centromere
naturally narrow place on the chromosome
54
the arm gives you direction as to what part of the chromosome is ___ or ___
normal or abnormal
55
ex: 22 q deletion means...
something wrong with the 22nd chromosome on the q arm
56
genes appear on the chromosomes as ___
bands
57
dark bands
higher concentration of genes
58
light bands
lower concentration of genes
59
bands tell us
how closely packed the genetic material is
60
which chromosome is the smallest
y
61
mutation
error in replication; replicate is not an exact duplicate
62
once cell division begins, mutation is (more/less) likely
more
63
spontaneous mutation
mutation that simple occurs
64
inherited factor
one parent has a good copy, one doesn't, the bad is inherited
65
teratogenic mutation
mutation caused by exposure to teratogens
66
monosomy
instead of two copies of a chromosome there is one
67
trisomy
there are three copies instead of two
68
deletion
deletion of certain section of the chromosome
69
inversion
the info is there, but it is in backwards, making it useless
70
translocation
genetic material is not where it is supposed to be on the correct gene so it doesn't work
71
variable expression
we have exactly the same mutation but it differs in function and appearance
72
phenotype
how you looks, characteristics you can see
73
genotype
construction of the chromosome/genetics; not visible; may not affect the phenotype
74
incomplete penetration
an individual carrying a gene for a condition but no expression of that gene in the phenotype
75
my genetic material is not correct but it is not displayed in my phenotype (this is an example of what?)
incomplete penetration
76
autosomal dominant
the first 22 chromosomes; (+) + (-) = (+)
77
autosomal recessive
genes that do not show up in the offspring unless both parents carry the trait
78
x-linked
if there is something on the x chromosome of the mom, it is going to result in an abnormality
79
multifactorial mutations
something to do with the genetic material itself and the environment
80
chromosome analysis
analysis for finding where information is missing or incorrect on a gene
81
FISH
Florescence In Situ Hybridization; do blood draw, look at cells, and do chemical analysis on the cells
82
dysmorphology
the wrong shape; there is in an expression in the phenotype
83
Trisomy 21
there are 3 chromosomes in the 21st, small hands and feet, heart defect, palebral (difference in eyes) ex: down syndrome
84
Trisomy 13
extra copy of chromosome 13, polydactyly (extra fingers and toes), spin bifida, severe eye defects
85
Nostrils are also known as:
nares
86
One feature on the upper lip if the:
philtrum
87
The palatine processes are part of the:
maxilla
88
The eustachian tube connects the pharynx with the:
middle ear
89
the primary muscle of velar movement is:
the levator veli palatine
90
The muscles of the faucial pillars are:
palatoglossus and palatopharyngeus
91
The ruggae are:
transverse palatal ridges of mucosa
92
The teeth contained in the pre maxilla are the:
central and lateral incisors
93
The bones of the hard palate are joined at:
a midline raphe
94
The primary innervation of velopharyngeal closure is from:
CN X
95
The purpose of a genetics eval is to:
1. make a diagnosis
2. determine the course of a disorder
3. determine risk of recurrence
4. provide psychosocial counseling
96
One of the most important aspects of a genetics evaluation is:
getting a complete history
97
trisomy and monosomy are very serious in terms of infant mortality because:
more genetic information is wrong
98
Van der Woude Syndrome is common in CL/P. The chromosome involved and one of the frequent symptoms is:
C 1: Lip pits
99
Pierre Robin is a __ , not a __.
sequence, syndrome
100
Classic presentation of Stickler Syndrome includes early onset of:
osteoarthritis and myopia
101
22q 11 syndrome is also known as:
velocardiofacial syndrome
102
one of the distinguishing features of Apert's Syndrome is:
syndactyly
103
The primary feature of hemifacial microsomia is:
facial asymmetry
104
autosomal dominance means:
more likely to be inherited
105
resonance is determined by:
1. size and shape of vocal tract
2. function of the VP valve or port
3. vocal quality
106
When pitch rises, so does the:
larynx
107
hypernasality is a:
resonance disorder
108
hypernasality is due to abnormal coupling of the:
oral and nasal cavities
109
hyponasality is the result of:
1. blockage of resonance in the nose
2. cold, allergy swelling nasal passages
3. a physical obstruction in the nose
110
Nasal Air Emission occurs when there is a failure to build up:
intraoral air pressure
111
NAE often results in:
1. short utterance length
2. nasal grimace
3. weak or omitted consonants
112
hypernasality and NAE often cause a child to resort to:
compensatory-obligatory articulatory errors
113
People with resonance disorders often try to compensate with the voice by using:
hyperfunctional voice productions
114
obligatory arctic errors are ___.
on accident and flaws
115
compensatory errors are ___.
on purpose and substitutions
116
merging
process where one structure merges together
117
when does merging occur?
4 - 6 weeks
118
Fusion
separate structures get closer together and fuse together
119
Branchial arches
protrusions in embryo; composed of protuberance and valleys
120
5 pairs of branchial arches
1. mandibular arch (1st arch)
2. hyoid (2nd arch)
3. thyrohyoid
4. 4 & 5 not distinct or named
121
Sequence
because this happens, then this happens; if this didn't happen, that wouldn't happen
122
syndrome
single cause
123
when does palatal development begin?
6 weeks
124
4-way fuse
pre-maxilla, nasal septum, and palatal shelves
125
Fusion of 4 structures starts __ and proceeds __.
anteriorly , posteriorly
126
Timing of fusion
structures will not fuse if they are not together at time of cellular disintegration
127
Cleft Lip
incomplete, complete, bilateral
128
cleft alveolus
has to do with alveolar ridge
129
cleft of primary palate
hard palate cleft
130
cleft of the secondary palate
soft palate cleft
131
submucous cleft
mucosa and soft tissue have fused but muscular sling did not form
132
tenting
looks like sharp point of a tent instead of a smooth arch
133
zona pellucida
"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
bifid uvula
musculus uvulae did not come together at the midline raphe (may have no affect on speech)
135
3 types of complete clefts
1. unilateral
2. bilateral
3. incomplete
136
Most common cleft
left unilateral cleft
137
tooth buds are contained in the
pre-maxilla
138
the palatine processes contain which teeth?
canines, cuspids, bicuspids, molars
139
Front 4 Teeth
incisors
140
deciduous dentition
baby teeth (A-J and K-T)
141
adult teeth
32 teeth, includes wisdom teeth, (1-16 & 17-32)
142
surfaces of the jaw
buccal, lingual, distal, and proximal
143
overjet
front teeth are over the bottom teeth and the molar relationship is accurate, front teeth are sticking out in front of the bottom
144
class I
crooked teeth, top molar should be 1/2 a tooth behind the bottom molar
145
class II
overbite, top molar is directly above or slightly ahead of bottom molar; causes tongue thrust
146
class III
underbite
147
cross-bite
part of the jaw literally falls in, arch collapsed towards the tongue so teeth collapse in
148
open bite affects __
articulation
149
___ have the largest affect on speech
muscles
150
what is the most important muscle of velar closure
levator veli palatine
151
origin of the levator veli palatine
rises from the petrous portion of the temporal bone, courses anteriorly and inferiorly to meet its opposite
152
function of the levator veli palatine
since it comes from behind the velum, when it contracts it pulls the velum backwards and up
153
superior pharyngeal constrictor
muscle at the top of your throat where the VP closes
154
origin of the musculus uvulae
posterior of the bony palate, courses posteriorly, and ends in the uvulae dangle; there is a L&R, elevates the soft palate
155
tensor veli palatine
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
VPI
velopharyngeal inadequacy
157
3 types of VPI
1. velopharyngeal insufficiency
2. velopharyngeal incompetency
3. velopharyngeal mislearning
158
veloppharyngeal insufficiency
- structural deficit
| - reasons: velum too short, anatomical mismatch (can't reach back wall)
159
velopharyngeal incompetency
- neurogenic etiology
- velum is there but doesn't work
- neuromuscular cause (stroke, disease, apraxia)
160
velopharyngeal mislearning
- has adequate VP function
- child has not correctly learned when the VP needs to be closed
- fixed w/ therapy! not surgery
161
symptoms of VPI/VPD
1. hypernasality
2. NAE
3. development of compensatory articulacy errors
162
hypernasality
- ONLY used to describe VOWELS
- voice quality
- perceived most clearly on /i/ vowel
163
NAE
- nasal air emmission
- happens on consonants, whether a consonant is intelligible or not
- can't impound oral pressure so air escapes through nose
164
cognates for assessment
p/b, t/d, g/k, s/z, sh/zh, ch/juh
165
compensatory errors are __
a choice! deliberately made!
166
obligatory error
- can't close VP
- child will snort or glottal stop
- error may be hyper nasal or NAE
167
assessing VPI
- radiographic study
- nasendoscopy
- endoscopic visual exam
168
radiographic study
- x-ray
| - videofluroscopy (moving x-ray), needs barium to coat tissue, not easy or effective for ch, exposure to radiation
169
nasendoscopy
flexible scope passed through nose to watch the velum move, best choice! SLP can do it, less expensive
170
22q 11
- velocardiofacial syndrome
- face is long and narrow
- taking out adenoid pad will create hypernasality
171
endoscopic visual exam
looks at VP function
172
normal VP function
results in normal speech and resonance
173
consistent VPD
- surgical fix, therapy won't work!
| - if velum could function, it would
174
inconsistent dysfunction
- try therapy to see if you can make a difference
| - conservative treatment = 6-8 weeks and then decide if you want to continue
175
task-specific VPD
- mislearning
- functions most of the time
- you know it works, so try to make it work all of the time
176
irregular VPD
- no predictable pattern
- doesn't show up on a specific phoneme
- can you live w/ irregularity?
- therapy may work, try before surgery
177
abnormal resonance W/O VPD
- 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
4 things to look for during endoscopic exam
1. patterns of closure
2. type of patency
3. approximate degree of patency
4. location of patency
179
4 patterns of closure
1. coronal
2. circular
3. circular w/ PPW
4. sagittal
180
type of patency
what is moving and what is not
181
approximate degree of patency
- degree of closure
- measure: small, med, large
- patency = open
182
location of patency
- where latency occurs relative to breathing
| - left, right, central, anterior, front, back, symmetrical, asymmetrical
183
coronal pattern
- 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
circular pattern
- second most common closure pattern
| - velum movement plus movement in lateral and posterior pharyngeal walls
185
circular pattern w/ PPW
closure patterns on a continuum
186
sagittal pattern
- least common closure pattern
| - velum stays in place and pharyngeal walls close to it
187
Watterson-Mcfarlane classification categories
- location of patency
- normal (0-5%)
- small (6-15%)
- med (16-40%)
- large (41-100%)
188
visible patency
pink tissue then you see a big black hole
| - can be seen when you shine a flashlight through the nose
189
3 management of VPI/VPD
1. pharyngoplasty
2. speech appliance
3. behavioral management (speech therapy)
190
pharyngoplasty
- pharyngeal flap
- done through surgery
- successful if it has a beneficial effect on speech
- doesn't need to be managed after surgery
191
2 types of pharyngeal flaps
1. superior
| 2. inferior
192
procedure for pharyngeal flap
- 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
dehiscence
tissue dies because of no blood flow
194
inferior flap
doesn't work because it pulls down
195
superior flap
cut tissue and one edge remains whole, bridge gets laid down
196
lateral pharyngoplasty/sphincter pharyngoplasty
- 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
muscle used in lateral/sphincter pharyngoplasty
palatoglossus
198
who developed the lateral/sphincter pharyngoplasty?
Hynes
199
why is timing of the flap important?
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
augmentation
removal of overgrown adenoid pad, not a common surgery anymore
201
complications of flap surgery
sleep apnea, bleeding, airway obstruction, death
202
speech appliance
- 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
types of speech appliances
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
circumstances favoring speech appliance
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
3 functions of eustachian tube
1. ventilation
2. protection
3. clearance
206
hearing issues in CL/P
- 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
lip repair
- 1st surgery done
- closure of lip
- cosmetic
208
why is the lip repair done?
repairs muscular continuity and aesthetic component
| - restores muscle function of orbicular oris
209
rule of 10's
10 lbs
10 weeks
10 grams of hemoglobin (oxygen carrying capacity in blood)
210
NAM
- nasal-alveolar molding
| - pre-surgical method using tape to push down the nasal part of the nose and the columella
211
3 types of cleft segment repairs
1. straight line
2. triangular flap
3. millard rotation-advancement
212
straight line repair
- used to bring palatal segments together
- tends to be too tight
- scarring upper lip will affect growth
213
triangular flap
- remove tissue and remove notch, lengthening lip
| - tennison-randall
214
the triangular flap is also known as the
tennison-randall
215
millard rotation-advancement technique
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
palatal repairs
- they do NOT go through the alveolus
| - they repair the palate
217
two types of palatal repairs
1. one-stage
| 2. two-stage
218
alveolar clefts
need a bone graft
219
when is the one-stage palatal repair done?
10-24 months
220
why is the one-stage palatal repair done early?
- bc of sequential development (waiting will not allow speech practice to take place)
- issue w/ sounds development
221
free flap repair
- tissue is cut from somewhere else
| - problem: hair growth and less likely to dehisce
222
4 types of one-stage repairs
1. furlow z-plasty
2. von langenbeck
3. V-Y pushback/ Wardill pushback
4. vomer flap
223
furlow z-plasty
- soft palate repair
- sewing the nasal tissue in one direction and the oral tissue in another direction
- muscle alignment under mucosa
224
von langenbeck
- 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
V-Y Pushback/Wardill Pushback
- soft tissue closure
| - get tissue from the vomer, palatal shelves, and put in a dart, bringing the tissue towards the center
226
two-stage repair
some still do it, most do one state, discredited procedure, done at 12 mos and then at 24 mos
227
fistula
holes that develop after surgical repair
228
what causes a fistula?
tissue dehiscence
229
when do they usually find a fistula?
after they put a spreader in, the arch spreads further apart exposing the fistula
230
do fistulas affect speech?
some do and some don't. anterior fistulas will have little affect on speech
231
a fistula is said to be functional if: ___, ___, or ___ can be pushed through it.
air, liquid or food
232
orthognathic surgery
bone graft to the alveolus
| - attempts to close the fistula are done at this time
233
what surgery addresses mid face hypoplasia?
maxillary osteotomy
234
3 types of maxillary osteotomy procedures
1. Le Fort I
2. Le Fort II
3. Le Fort III
235
Le Fort Procedures
- have an effect on aesthetics
- use "dog bones" for a firm graft
- choose which one depending on how severe the mid face hypoplasia
236
Le Fort I
- 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
Le Fort II
- 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
Le Fort III
- done by cranial surgeon
- advancing up to the nose and upper jaw and also the skull
- pulls the eye sockets forward
239
distraction osteogenesis
brackets outside of the face that you turn everyday to fix hemifacial microsomia
240
what is the organ that generates language?
brain
241
syndromes with cleft as a symptom often affect __
cognition
242
if ch w/ cleft have no syndrome and no cognitive delay, they will __
catch up
243
for assessing auditory feedback use:
- see-scape
- octopus (listening tube) best!
- mirror
244
4 goals for speech therapy
1. decrease velopharyngeal patency
2. decrease NAE/increase oral pressure
3. decrease hyper nasality
4. decrease compensatory errors
245
perception of the burden
cost, time, stigma
246
socioeconomic burden
Isreal - social medicine
religion - acceptable or unforgivable
culture - bad karma
247
our obligation as SLPs
to inform! (surgery, ear care, speech therapy)
248
What should we tell parents to do with babies with CL/P?
- 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
