Exam 3 Flashcards
(199 cards)
1
Q
term often used to describe related malformations in a particular region and sometimes is used interchangeably with sequence.
A
Field Defect
1
Q
True or False
Associated anomalies are more likely to occur in bilateral cleft lip and palate than unilateral clefts
A
True
1
Q
- affects teeth distal (posterior to canines)
- can be unilateral or bilateral
- usually occurs because the maxilla is too narrow
- causes maxillary crowding
- can affect tongue position for speech
A
lateral (posterior) crossbite
2
Q
- tongue is very large relative to the oral cavity size
- associated with Down’s Syndrome and Beckwith-Wiedeman Syndrome
- Results in
- lingual protrusion
- drooling
- airway obstruction
A
Macroglossia
3
Q
tongue stitched to mandible, treatment of upper airway issues
A
glossopexy
4
Q
true or false
genes do not make proteins
A
true
5
Q
Normal dentition deciduous (baby) teeth
A
- 20 total
- 10 teeth in each arch
6
Q
- used to examine chromosomes
- number
- structure
- almost any tissue can be used, e.g., blood, amniotic fluid
- takes about a week to get results
A
Karyotyping
7
Q
True or False
More than 350 different syndromes include clefting as one of the presenting conditions
A
True
8
Q
name 2 sequences
A
- Robin sequence
- DiGeorge sequence
9
Q
True or false
Most congenital anomalies are genetic-based disorders and caused by single gene disorder
A
True
10
Q
- a prosthetic appliance to assist infants with cleft palate in feeding
- advantages
- keep tongue from resting inside the cleft
- provides solid surface so tongue can achieve compression of the nipple against it
- disadvantages
- expense
- need to replace due to growth
- keeping it in the infant’s mouth
- irritation of oral mucosa
- most cleft palate centers do not recommend their use
A
Feeding Obturators
11
Q
During development, describe how the palate closes (3)
A
- begins at the incisive foramen
- proceeds forward to form the alveolar ridge then lip
- then backward to form the hard palate and velum
12
Q
Treatment of upper airway issues includes (6)
A
- positioning in prone
- nasopharyngeal intubation
- oral orthopedic appliances
- glossopexy
- mandibular distraction treatment
- tracheostomy
13
Q
- The most common chromosomal abnormality
- Cri du Chat syndrome is an example
A
Chromosome deletion
14
Q
one nucleotide replaced by another
A
substitution
15
Q
types of mutation (3)
A
- substitution
- insertion of nucleotide
- deletion of nucleotide
16
Q
- vertical overlap of lower incisors over upper incisors
A
underbite (deep bite)
17
Q
2 ways gene mutations occur
A
- inherent from parent
- acquired during the lifetime
18
Q
alveolus and anterior part of the maxilla
A
premaxilla
19
Q
- involves posterior teeth (molars)
- unilateral or bilateral-often bilateral with history of cleft palate
- results in a narrow maxillary arch and intra-oral crowding
A
posterior crossbite
20
Q
ranges from notch in uvula to extending into velum or part of hard palate
A
secondary palate incomplete
21
Q
- tube passed through one naris into the stomach
- syringe used to deliver food through the tube
A
nasogastric (NG) tube
22
Q
feeding problems for children with cleft lip and alveolus only (2)
A
- infant may have initial problems achieving an adequate lip seal on the nipple
- inadequate seal may cause difficulty generating pressure for sucking
23
How many human genes are there?
20k-25k
24
such swallow breath typical ratios
1:1:1 or 2:1:1
25
* entire maxillary arch is inside mandibular arch
* can result in distortion of many sounds, particularly tongue tip sounds
complete crossbite
26
Why may maintaining an adequate airway be a concern in babies with Robin Sequence?
The hypoplastic mandibe resutls in a U-shaped cleft of the secondary palate. The normal sized tongue interferes with breathing
27
* mutation on the x chromosome
* affects males more than females
x-linked
28
* caused by a deletion of the short arm of chromosome 5
* Problems include
* cognitive impairment
* cardiac problems
* facial asymmetry
* hypertelorism
Cri du Chat Syndrome
29
birth defects induced by exogenous agents
teratogenesis
30
Feeding problems of children with both cleft lip and palate (3)
* infant will have significant difficulty with all aspects of feeding
* significant nasopharyngeal reflux is also present
* breastfeeding is usually not possible
31
* due to the channel stenosis/atresia or enlarged adenoids
* causes hyponasality
posterior obstruction of the nasal cavity
32
turn off proteins
dephosphorylated
32
shape of DNA
double helical structure (twisted ladder)
32
Where is most of our DNA?
in the nuclei of all our cells
32
Where is a place other than the nuclei of our cells that DNA can be found?
mitochondria (mitochondrial DNA)
32
What copies the protein recipe from the gene?
RNA
32
* Chromosomes X-shaped
* central narrowing
centromere
32
gene location specified by (2)
* chromosome #
* arm and band number (or range)
32
* bind to specific foreign particles such as viruses and bacteria to help protect the body
* ex. immunoglobulin G (IgG)
Antibody
32
* carry out almost all of the thousands of chemical ractions that take place in cells
* also assist with the formation of new molecules by reading the genetic information stored in DNA
* Ex. Phenylaline, hydoxylase
Enzyme
32
a cleft or failure to close the eyeball This can result in a keyhole- shaped pupil and/or abnormalities in the retina or optic nerve.
Coloboma
32
the passages from the back of the nose to the throat that make it possible to breathe through the nose. In children with CHARGE, these passages may be blocked (atresia) or narrowed (stenosis). Surgery can often correct these defects. Multiple surgeries are often required.
Choanae
32
What do the effects of teratogens depend on? (3)
* potency of the teratogen
* duration of exposure
* when the fetus is exposed
32
* wedge-shaped
* consists of
* median portion of the prolabium
* alveolus
* anterior portion of the maxilla to the incisive foramen
Primary Palate
32
location of the upper incisors
alveolus
32
When does development of the primary palate begin?
7 weeks gestation
32
through the lip and alveolus to incisive foramen
primary palate (cleft lip) complete
32
extends from the uvula to the velum through the hard palate to the incisive foramen
secondary palate complete
32
Which is more frequent clefts of the lip and palate or isolated clefts of the lip or plate?
complete clefts of the lip and palate
32
Who exhibits clefts of the palate only more, males or females?
females
32
what percentage of persons with cleft palate have a syndrome?
about 40%
32
* 2nd most common
* both sutures located across the top of the head from ear to ear close too early
Coronal synotosis
32
* usually silent, especially in very small neonates
* no loud snoring
* inspiratory stridor not present or intermittent
* high incidence in children with craniofacial anomalies
Obstructive sleep apnea
32
Anomalies of the external ear (2)
* aural atresia
* micronatia
32
How is infant oral anatomy different from adult? (6)
* oral cavity is small relative to tongue size
* buccal pads are large
* there are no teeth
* tongue rests anterior to alveolar ridge and contacts lower lip
* temporomandibular joint does not allow much jaw movement
* oral anatomy is well suited for suckling
33
Upper lip may be short after cleft repair due to: (3)
* basic dysmorphology from the cleft lip
* contractile effects of the scar from the lip repair
* lip shortening due to protruding premaxilla
34
Patterns of inheritance of mutations (4)
* Autosomal dominant
* Autosomal recessive
* X-linked dominant
* X-linked rrecessive
35
requires two mutations (one on each autosome)
autosomal recessive
36
normal teeth that erupt in abnormal positions
ectopic teeth
37
enzyme matches new nucleotides to the appropriate partner on the DNA
transcription
39
How many total chromosomes are in each cell?
46
40
* UES opens for bolus transfer to esophagus
* lower esophageal sphincter opens to allow bolus entrance into stomach
Esophageal phase
41
tongue base, velum, and posterior pharynx provide driving force for the bolus to transfer to the esphagus
pharyngeal phase
42
conditions that often affect feding and swallowing (3)
* Pierre Robin sequence
* Moebius syndrome
* hemifacial microsomia
43
46 total chromosomes in each cell
break down
* 23 pairs
* one chromosome from each parent
* 22 autosomes
* 1 sex chromosome
44
position of the jaws relative to one another
occlusion
45
* Primary incisors usually erupt around 12 months of age
* lip repair
* palate repair
* premaxillary orthopedics (for bilateral complete clefts)
* nonsurgical manipulation of the premaxilla and lateral segments
* makes lip repair easier with better results
Treatment at infant stage (0-12 months)
46
* common in craniofacial anomalies
* central incisors and lateral incisors (if present) often rotated toward the cleft
* if the tooth is in the area of the tongue tip movement, the airstream could be diverted laterally, causing a lateral lisp
* lateral distortion can also occur if there is an attempt to compensate for the position and interference of the tooth
Rotated teeth
47
* chromosomal syndromes may result from (6)
* deletion of whole chromosomes
* addition of whole chromosomes
* deletion of parts of chromosomes
* addition of parts of chromosomes
* restructured chromosomes
* rearrangements of chromosomes
48
* orthodontics
* to align the teeth in the arches
* may make occlusion worse until the orthognathic surgery is done
* replacement of missing teeth with denture plate
Treatment at late mixed dentition (9 to 12 years)
49
Anomalies of the tongue (3)
* macroglossia
* microglossia
* ankyloglossia
50
treatment for obstructive sleep apnea (2)
* CPAP
* Surgery
51
opening of the maxillary arch for nerves that is just posterior to the alveolus
incisive foramen
52
palatal shelves or palatine process that fuse to form the hard and soft palate
secondary palate
53
* congenital anomaly
* very common
* rarely causes speech problems
* on protrusion, tongue indented in midline and looks heart shaped
* clipping only necessary when:
* feeding/eating affected
* gingiva separates between lower incisors
Ankyloglossia (tongue tie)
54
prolabium
median portion of the upper lip
55
a group of related anomalies that generally stem from a single initial major anomaly that alters the development of other surrounding or related tissues or structures.
Sequence
56
C = coloboma
H = heart defects
A = atresia of the choanae
R = retardation of growth and development
G = genital and urinary abnormalities
E = ear abnormalities and/or hearing loss
charge Association
57
* transmit signals to coordinate biological processes between different cels, tissues, and organs
* ex. growth hormone
messenger
58
SLP role in Syndrome ID (3)
* understanding the effects of communication and other developmental issues
* interaction with other professionals for patient management
* making referrals for further study
59
Persons with chromosome disorders typically present with severe problems that may include (6)
* intellectual disability
* short stature
* heart anomalies
* brain anomalies
* limb anomalies
* craniofacial anomalies
60
Macroglossia effects on speech (4)
* interferes with lingual alveolars
* palatal dorsal production is common
* frontal (and occasionally lateral) distortion
* oral cul-de-sac resonance often noted
61
* consider when developmentally appropriate (usually between 6 and 9 months)
* Medela soft cup tm feeder can help with transition
* most surgeons recommend transitioning prior to plate surgery
* nipple in mouth could cause breakdown of palate repair
transitioning to a cup
62
* alveolar bone graft
* done at site of cleft in alveolar ridge before eruption of lateral incisor and canine in cleft area
* iliac crest bone is usually used for the graft
* helps to stabilize maxillary arch and give boney structure for incisors to erupt through
Treatment at early mixed dentition (6 to 9 years)
63
nipple compression and generation of negative pressure occur for sucking
oral phase
64
* common in young children
* in tonsils can cause
* pharyngeal cul-de-sac resonance
* nasal emission of tonsil -limits lateral wall motion or interferes with velopharyngeal closure
* velar fronting if it displaces the tongue down and forward
* difficulty swallowing a bolus
* in adenoids can cause
* hyponasality
* airway obstruction
* skeletal malocclusion, if the jaw is always open for oral breathing
hypertrophy of the tonsils and adenoids
65
* tube inserted directly into stomach
* bolus or continuous feedings
Gastronomy (G) tube
66
* the suture in the middle of the forehead closes too early
* infant presents with a forehead that is often pointed or triangular from above
* sides of the forehead appear pinched causing the eyes to look like they are too close together (hypotelorism)
metopic synostosis
67
single strand of nucleotides
RNA
68
abnormally widely spaced eyes
hypertelorism
69
treatment of anomalies of the external ear (2)
* surgery
* bone conduction hearing aids
70
* post operative recommendations vary among centers
* some discourage sucking following surgery may recommend use of a cup or spoon instead
* some may recommend supplemental tube feeding for a short time
* some allow unrestricted feeding
feeding after cleft lip and palate repair
71
What makes up proteins?
chains of Amino Acids
72
* examination of genes
* examination of chromosomes
* biochemical testing (proteins, enzymes)
Genetic testing
73
* most common
* the suture that runs from front to back closes too early
* the skull becomes long and narrow
sagittal synotosis
74
* the way the jaws fit together during biting
* maxillary arch should be slightly bigger than the mandible and should fit over the mandibular arch
skeletal occlusion
75
The "internally coded, inheritable information" carried by all living organisms.
genotype
76
What is the most common chromosomal abnormality?
Partial Chromosome deletions
77
* oral mucosa is intact
* underlying muscle and/or bone is clefted
submucous cleft
78
* supply cell's energy
* contains 37 genes
* genes code for enzymes essential for mitochondrial function
mitochondrial DNA
79
in DNA adenine pairs with
thyamine
79
* affect a single gene
* changes nucleotide sequence
Gene mutations
79
Treatment of anomalies of the middle ear (2)
* surgery
* bone conduction hearing aids
80
* orthognathic surgery or distraction to align the jaws
* done after facial growth is complete (girls: age 14 to 15; boys: age 18 to 19
)
* permanent replacement of missing teeth
Treatment of adolescent dentition (12 to 18 years)
82
lobulated tongue, rarely causes speech problems
mircroglossia
83
anomalies of the middle ear (2)
* ossicles may be absent, hypoplastic, or ankylosed
* tympanic membrane may be absent or hypoplastic
84
* complex 3-D molecules
* essential for normal human structure and function
Proteins
85
who exhibits of the lip and palate more, males or females
males
87
flat head shape without early closing of the sutures
positional head deformity
88
maxillary incisors overlap mandibular teeth
overbite
89
* articulation altered to compensate for structural abnormalities
* causes sound substitution error
compensatory error
91
* chromosomes X shaped
* arms of the X short arm
p
92
How is pharyngeal anatomy different in infants? (6)
* pharynx is short
* tongue base, soft palate, and pharyngeal walls in close approximation
* larynx is 1/3 the size of adults and high in the hypopharynx
* high laryngeal position causes the epiglottis to pass superiorly to the free margin of the soft palate and project into the nasopharynx
* pharyngeal anatomy well suited for the suck swallow breath synchrony
* head, chin, neck relationship are ideal for the suck, swallow breath synchrony
93
signs of stress during feeding that indicate the feeder should modify the pace (6)
* eyes widening or changes in facial expression
* decreased alertness
* avoidance of feeding
* coughing or choking
* sings of excessive air intake
* signs of fatigue
95
position of the teeth
dentition
96
only one gene mutation on an autosome
autosomal dominant
97
* mid-face deficiency/hypoplasia
* anterior crossbite with class III malocclusion
* pharyngeal and nasal airway restriction
* hyponasality
anomalies of the maxilla
99
Normal relationship between upper and lower teeth
Class I occlusion
100
ranges from small notch in vermilion to entire lip and part of alveolus
Primary Palate (cleft lip) incomplete
101
rungs of the "ladder" composed of nucleotides (bases)
4 DNA nucleotides
* adenine
* guanine
* thyamine
* cytosine
102
the eyes look like they are too close together
hypotelorism
103
cytosine pairs with
guanine
104
* abnormal dental or skeletal relationship between the maxillary and mandibular teeth
* arches don’t close together normally during biting
* mandible ( and thus the tongue) can be positioned too far behind or in front of the maxilla
malocclusion
106
which model is used frequently in genetics counseling for isolated clefts
the multifactorial model
107
Responsibilities of SLP working with craniofacial anamolies (9)
* instruction on feeding and swallowing skills
* discussion of feeding problems and demonstration of feeding technique
* discussion of the course of overall tx
* discussion regarding how speech and language may be affected
* discuss concomitant disorders the child may be at high risk for
* providing parents with an approximate time table for the provision of overall services to the child
* answering any other questions that caregivers might have
* allowing parents to voice their concerns and feelings
* Making referrals if necessary
108
Which races/ethniticites have higher rates of cleft palate?
* higher in asians than caucasions
* higher in caucasions than aftrican americans
109
anamalies may be categorized as (3)
* syndromes
* sequences
* associations
110
* placement is normal, but structural abnormalities interfere with articulation
* cause speech sound distortion
Obligatory distortion
111
theories proposed to explain the cause of isolated clefting (i.e. clefting without anomalies) (2)
* multifactorial threshold model
* major gene hypothesis model
112
Name two associations
* VACTREL association
* CHARGE association
113
too much overlap upper incisors over lower incisors
abnormal overbite
115
where are the central and lateral incisors?
the premaxilla
116
Many people with syndromes have communication problems related to (2)
* neurobiological malformation and/or
* structural malformations of the oral cavity and or jaws
117
Positioning the nipple (2)
* place nipple under palatal bone to aid nipple compression
* place nipple on opposite side of cleft lip
118
*
maxillary arch too far behind the mandibular arch
* causes midface retrusion
* mesiobuccal (front outside) cusp of the first maxillary molar is posterior to the buccal (outside) groove of the first mandibular molar
* maxillary arch is retrusive and too far behind the mandibular arch
* associated with maxillary retrusion and anterior crossbite and/or mandibular prognathism
* difficulty with lingual alveolars and labials
* can cause palatal and dorsal productions as a compensation
Class III occlusion
119
small jaw
micrognathia
121
normal dentition succedaneous (permanent) teeth
* 32 teeth
* 16 in each arch
122
was to manage nasal regurgitation during feeding (3)
* allow infant time to cough or sneeze to clear the nasal passage
* use an upright position
* use a slower flow nipple or slow the pace
123
Functions of opening the eustachian tube (3)
* ventilates the middle ear
* equalizes middle ear pressure with the environment
* allows fluids to drain
124
* one of the most infrequent types
* suture located across the back of the head closes early
* causes a flattening of the head on the affected side (posterior plagloencephaly)
Lambdoid Synotosis
126
* these proteins bind and carry atoms and small molecules within cells and throughout the body
* ex. ferritin
transport/storage
127
* maxillary expansion- primary activity
* may be started at 4-5 years of age
* goal- create adequate width of the maxilla and to correct position of erupting permanent incisors
* can be done within a few months
* lingual fixed appliance is used
* may widen pre-existing fistula or open a new fistula
* fistula can be temporarily obturated with acrylic added to wires
* Fistula is usually closed later with the bone graft
Treatment at Primary Dentition (1 to 6 years)
128
* discrete segments of DNA
* codes the recipe for making a particular protein
genes
129
Complete cleft may affect (2)
* the nose
* dentition
130
* reversal of the normal upper to lower incisor relationship
* may cause maxillary teeth to interfere with tongue tip placement for lingual-alveolar sounds
underjet (anterior crossbite)
132
proposes that isolated clefting is caused by some single mutant gene
major gene hypothesis
133
True or False
development of primary and secondary palates are independent of one another
true
134
* complex of lymphoid tissue that encircles the pharynx
* tonsils (palatine tonsils)
* adenoids (pharyngeal tonsils)
* lingual tonsil
Waldeyer's Ring
135
Modified nipples- considerations (5)
* pliability
* shape
* length
* hole type
* hole size
136
* provide structure and support for cels
* on a larger scale, they also allow the body to move.
* ex. Actin
structural component
137
Treatments for inner ear malformations (2)
* cochlear implant(s)
* hearing aid(s)
139
Examples of teratogens (4)
* therapeutic drugs
* alcohol
* infectious agents (chicken pox)
* radiation
140
What happens during genetic counseling? (4)
* results of genetic testing are presented
* questions are answered
* planning for medical interventions, if necessary
* determining risk of recurrence (in future children)
141
Ways to prevent excessive air intake during feeding (2)
* increase frequency of burbing
* burp infant at least once every ounce
142
* strands of DNA and associated proteins
* compact way to protect, organize, and package DNA into the cell
chromosomes
143
What muscle contracts to open the eustachian tube?
tensor veli palatini
144
* multiple anamalies having a single cause
* may be chromosomal or gene-based
syndromes
145
turn on proteins
phospharylated
146
* lack of fusion of the lip, alveolus, hard palate, and/or soft palate
* occurs during the early embryonic period and is present at birth
* each child will present with a different degree
* many children will present with other associated anomalies
* vary in severity
Cleft Lip/Palate
147
number of teeth per arch (6)
* central incisors (2)
* lateral incisors (2)
* canines (2)
* bicusbids (4)
* molars (4)
* 3rd molars/wisdom teeth (2)
149
What sequence presents with micrognathia?
Robin sequence
151
* Affects females only
* all or part of one X chromosome missing
* Problems may include
* short stature
* webbed, short neck with low posterior hair line
* infertility
* variable cognitive and cardiac anomalies
* variable physical anomalies
Turner Syndrome
152
What is the frequency of clefts in live births?
1:500 to 1:750
153
*
mesiobuccal cusp of the first maxillary molar fits in the buccal groove of the first mandibular molar
* arch relationship is normal, although the teeth may be misalligned
Class I Occlusion
155
How many amino acids make up proteins?
20 amino acids
156
*
maxillary arch is too far in the front of the mandibular arch
* mesiobuccal (front outside) cusp of the first maxillary molar is anterior to the buccal (outside) groove of the first mandibular molar
* maxillary arch is too far in front of the mandibular teeth
* often associated with micrognathia
* if severe, the tongue is under the palatal arch, rather than the alveolar ridge
* may cause backing of speech sounds
Class II malocclusion
158
* chromosomes X shaped
* arms of the X long arms
q
160
feeding problems for children with cleft palate only (3)
* depends on extent of cleft
* may be unable to generate negative pressure for sucking
* infant may be unable to find a hard palatal surface for compression of the nipple
162
2 main initial concerns for newborns with cleft palate
* feeding
* maintaining an adequate airway
163
* usually around 4 to 6 months
* rice cereals and strained foods
* use appropriate positioning, small boluses, slow pace, alternate with liquids to assist with clearance
introduction to solid foods
164
* one or more maxillary teeth fail to occlude with the opposing mandibular teeth
* causes include
* missing teeth
* poor occlusion
due to digit or pacifier sucking habits
* skeletal discrepancies
*
Open bite
166
Purposes of feeding (besides the obvious) (5)
* provides oral-sensory and oral-motor stimulation
* facilitates state regulation and maintains homeostasis
* provides calming and sense of well-being
* enhances bonding and interactions with caregiver
* serves as foundation for other functions, including speech
167
posterior displacement of the tongue in the pharynx
glossoptosis
168
The "outward, physical manifestation" of the organism. determined by the genotype and the environment.
phenotype
169
maxillary incisors slightly labioverted
overjet (labioversion)
170
a group of anomalies that occur more frequently together than would be expected by chance alone but that do not have a predictable pattern of recognition and/or a suspected unified underlying etiology.
Association
171
* horizontal relationship between the incisors exceeds 2 mm (buck teeth)
* can affect production of bilabials
* labiodental placement may be used as a substitute
abnormal overjet
172
* may occur with bilateral complete cleft lip and palate
* can affect bilabial competence at rest and during speech
protruding premaxilla
173
* due to deviated septum or stenotic nares
* causes nasal cul-de-sac resonance
anterior obstruction of the nasal cavity
174
V stands for vertebrae, which are the bones of the spinal column.
A stands for imperforate anus or anal atresia, or an anus that does not open to the outside of the body.
C is added to the acronym to denote cardiac anomalies.
TE stands for tracheoesophageal fistula, which is a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube).
R stands for renal or kidney anomalies. L is often added to stand for limb anomalies (radial agenesis).
Babies who have been diagnosed as having this association usually have at least three or more of these individual anomalies. There is a wide range of manifestations of this association so that the exact incidence within the population is not precisely known.
VACTERL Association
175
a well-characterized constellation of major and minor anomalies that occur together in a predictable fashion presumably due to a single underlying etiology which may be monogenic, chromosomal, mitochondrial, or teratogenic in origin.
Syndrome
176
Each protein has unique (2)
* amino acid chain sequence
* shape
177
when a suture or sutures close too early and restricts skull growth
craniosynotosis
178
Other craniofacial anomalies likely to cause feeding problems (8)
* micrognathia
* macroglossia
* pharyngeal stenosis
* laryngeal cleft
* tracheoesphageal fistula
* glossoptosis
* midface retrusion
* choanal atresia
180
* nasal cavity compromised by midline cleft deformities
* deviated septum
* stenotic nares secondary to lip repair
* anterior obstruction of the nasal cavity
* posterior obstruction of the nasal cavity
anomalies of the nose
181
* tRNA supplies amino acids to the ribosome
* ribosome assembles them according to the recipe
translation
182
What makes protein?
ribosome
183
Ways flow can be regulated during feeding (2)
* tilting the nipple slightly upwards
* partially removing the nipple from the oral cavity
184
variations in genes
alleles
185
* Additional chromosomes result in a trisomy
* also rare with the exception of Down Syndrome
* Problems may include
* cognitive impairment
* midface deficiencies
* cardiac problems
* upslanting eyes
Whole Chromosome Addition
187
Positioning the infant during feeding (3)
* semi up-right (at least 60 degrees) is best
* facilitates control of jaw, cheek, lip, and tongue movements
* allows gravity to assist with swallowing
188
* required in all states
* # of screened disorders varies by state
* Michigan screens for over 50 disorders
Newborn genetic screenings
189
* rare
* Turner Syndrome is an example
Whole chromosome deletion
190
* posits a threshold for expression of a cleft
* combination of genetic and environmental factors (e.g. maternal exposure to teratogen) must exceed a threshold for a child to be born with a cleft
Multifactorial model
191
* "maps" the genetic material in a person's cells
* used to visualize specific genes or portions of genes
* results are available much faster than karyotyping
Fluorescence in stiu hybridization (FISH)
192
What percentage of patients present with isolated cleft lip with or without a cleft palate?
about 60%
193
* Maxillary teeth are inside the lower teeth
* common with history of cleft
* may include:
* single tooth
* anterior crossbite
* lateral crossbite
* posterior crossbite
* complete crossbite
* can cause maxillary teeth to articulate against tongue during occlusion causing
* fronting of alveolars
* lateral distortion
alveolar fricatives
* interference with labio-dental placement resulting in a reverse labiodental placement
*
Crossbite
