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Praxis > Cleft Palate, Genetic Syndrome > Flashcards

Cleft Palate, Genetic Syndrome Flashcards

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1
Q

A secondary palatal surgical procedure in which a muscular flap is cut from the posterior pharyngeal wall, raised, and attached to the velum.

Openings on either side of the flap allow for nasal breathing, nasal drainage, and production of nasal speech sounds.

Flap helps close the velo-pharyngeal port, thus reducing hypernasality

A

pharyngeal flap

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2
Q

Surgical procedure in which the cleft of the soft palate is closed first, and the cleft of the hard palate is closed later

A

Delayed hard palate closure

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3
Q

Performed to repair the cleft of the palate by raising two bipedicled (attached on both ends) flaps of mucoperiostem, bringing them together and attaching them to close the cleft of the hard palate is closed later

A

Von Langenbeck surgical method

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4
Q

surgery done to repair cleft of the palate
-incision on either side of the cleft
-two flaps of tissue freed from bone
-margins of the cleft pared
-flaps brought together, pushed back, sutured
*lengthens palate and improves chances of velopharyngeal approximation

A

V-Y retroposition (Veau-Wardill-Kilner) method

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5
Q

Done to improve appearance and functioning after the initial closure of the clefts

A

secondary surgeries for clefts

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6
Q

children w/ palatal clefts tend to exhibit a higher prevalence of laryngeal and vocal disorders, which may include:

  • vocal nodules
  • hypertrophy and edema of the vocal folds
  • vocal hoarseness, reduced vocal intensity
  • resonance disorders characterized by hypernasality, hyponasality, denasality, or a combination
A

Communication disorders associated w/ cleft
laryngeal & phonatory disorders

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7
Q
  • may not be as significant as articulation disorders
  • initially delayed language development
  • significant language disorders in children whose clefts
  • relatively normal receptive language skills, w/ delays in expressive language
A

Communication disorders associated w/ cleft
language disorders

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8
Q
  • more significant if the palatal cleft is not repaired early or the repair is inadequate
  • greater difficulty w/ unvoiced sounds than voices, pressure consonants, audible or inaudible nasal air emission, distortion of vowels
  • difficulty w/ sibilants (/s, z/), high pressure stops (/b, p/), frivatives (/f, v/)
  • compensatory errors including various types of substitutions
  • affricates, fricatives, and plosives
A

Communication Disorders associated w/ clefts
Speech sound disorders

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9
Q
  • children w/ clefts are prone to middle ear infections and hearing loss
  • most common: otitis media
  • most common type: conductive hearing loss
  • Eustachian tube dysfunction
A

Communication disorders associated w/ clefts
hearing loss

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10
Q
  • not a form of clefting but rather is a related disorder
  • impaired velopharyngeal closing-valve functioning
  • may be caused by a short palate, an occult submucous cleft palate
  • hypernasal speech: mild to severe
A

congenital palatopharyngeal incompetence (CPI)

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11
Q

missing teeth

A

hypodontia

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12
Q

only detectable by x-ray examination and nasopharyngoscopy

A

occult submucous cleft

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13
Q

surface tissues of the soft or had palate fuse but the underlying muscle or bone tissues do not

A

submucous cleft

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14
Q

minimal expressions of clefts, including a hairline indentation of the lip or just a notch on the lip

A

microforms

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15
Q

Genetic Abnormalities

  • autosomal dominant inheritance in some syndromes (Apert, stickler, Van der Woude..)
  • recessive genetic syndrome
  • x-linked inheritance
  • chromosomal abnormalities

Environmental Teratogenic Factors

  • fetal alcohol syndrome
  • illegal drug use
  • side effects of some prescriptions
  • rubella

Mechanical Factors

  • intrauterine crowding
  • twinning
  • uterine tumor
    • amniotic ruptures
A

etiology of clefts

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16
Q

What are the maxillary processes?

A

face, mouth, cheeks, sides of the upper lip; most of the hard palate; alveolar ridge; soft palate

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17
Q

development of a groove (primitive mouth and nose)

A

stomodeum

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18
Q

What is the most crucial period for genetic malformations?

A

embryonic period (first 7-10 weeks of gestation)

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19
Q

an opening in a normally closed structure

cleft lip: opening in the lip, usually upper lip (lower lip is rare)

Congenital disorder

Clefts of lips alone = rare; usually associated w/ cleft of the palate

A

cleft

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20
Q

For surgery, child should be:

  • weight = 10 lbs, age = 10 wks, hemoglobin 10

Minimizes risk of gneral anesthesia, maximize healing capacity, and facilitate aspects of surgical repair based on child’s size

A

Role of 10s

21
Q

ratio formed between oral and nasal sound pressures, which is expressed as a percentage

A

nasalance

22
Q
  • Evaluates velopharyngeal structures & their functional relationships
  • This analysis informs decisions about surgery, therapy, and others
A

cephalometric analysis

23
Q

another surgical proceudre in which a substance such as teflon, silicone, dacron wool/silicone gel bad, or cartilage, may be implanted or injected into the posterior pharyngeal wall to make it bulge and thus help close the velopharyngeal port

A

pharyngoplasty

24
Q
  • important to focus on increasing intelligibility
  • more visible sounds are taught except lingua-dentals
  • stops and fricatives are taught before other classes
  • training /k/ and /g/ may be inappropriate if no adequate velopharyngeal function
  • fricatives, affricates, both may be trained afer stops
  • compensatory articulatory positioning
  • minimal pairs approach
  • Electropalatography (EPG)
    • similar to a retainer
    • immediate visual feedback
A

treatment of SSD’s (cleft)

25
Q

hypernasality due to VPI should not be treated until:

  • there is surgical or prosthetic efficacy to improve the physiological functioning
  • child is capable of velopharyngeal closure but is using previously established inappropriate compensatory articulation patterns that can be modified

Tonar II, KayPENTAX Inc.

A

treatment of resonance disorders

26
Q

Which of these is NOT a mechanical factor related to cleft palate?

A

intrauterine crowding

twinning

uterine tumor

illegal drug use by the birth mother

27
Q

The hard palate fuses between the developmental ages of?

A

8-9 weeks

28
Q

How is an oral manometer helpful?

A
  • obtains a ratio by comparing pressures achieved in the nostril - occluded and nostrils - open conditions

Normal ration of 1.00 = adequate velopharyngeal closure

< 1.00 = velopharyngeal incompetence (VPI), reduced intelligibility, hypernasal speech

< 0.89 = indicates a BIG PROBLEM!

29
Q
  • caused by an absence of the short arm of the fifth chromosome (5p)
  • high pitched cry of long duration that sounds like a cat
    • low set ears, narrow oral cavity, laryngeal hypolasia, microcephaly
A

Cri du Chat Syndrome

30
Q
  • caused by autosomal dominant inheritance w/ varied expression in individuals
  • craniosynostosis (fusion of cranial suture)
  • hypertelorism (eyes that are far apart)
  • brachycephaly (short head)
  • coductive hearing loss, hyponasality
A

Crouzon Syndrome

31
Q
  • Dr. Harry Angelman
  • normal pretanal/birth history
  • normal head circumference
  • no obvious birth defects
  • chromosome 15 is duplicated from father or deleted from mother
  • 3-7 years
  • seizures, stiff-jergy gait, happy demeanor, hand flapping, short attention span
  • few or no words
  • receptive higher than expressive
A

Angelman syndrome

32
Q
  • may be caused by spontaneous autosomal dominant mutations
  • FGR2 @ 10q 25-26
  • smaller ant.-post. skull diameter
  • high forehead
  • midfacia hypoplasia (under development)
  • communication problems
    • hyponasality
    • forward tongue
    • alveolar consonants /s, z/
    • labiodental sounds /f, v/
  • some normal intelligence
    • others mild=moderate intellectual disability
A

Apert syndrome

33
Q
  • also called Shprintzen Syndrome
  • associated w/ cleft palate
  • small part of chromosome 22 is missing
  • significan language difficulties
  • neonatal period of babies w/ VCFS is especially challenging
A

Velocardiofacial syndrome (VCFS)

34
Q
  • caused by autosomal recessive inheritance in most cases & is x-liked in rare cases
  • night blindness = vision issues
  • 50% ind. are affected - deaf/blind
A

Usher syndrome

35
Q
  • rare genetic disorder
  • elfin-face syndrome
  • abnormality on chromosome 7
  • IQ 50-70
  • hypercalcimia
  • narrowed pulmonary arteries/narrowed aorta
  • unafraid of strangers/charming personalities
A

Williams Syndrome

36
Q
  • occurs only in females
  • caused by missing or deformed X chromosome
  • Noonan syndrome
  • Cubitus valgus
  • micrognathia (small lower jaw)
  • sensorineural hearing loss
A

Turner syndrome

37
Q
  • extra copy of chromosome 13 (47 chromosomes instead of 46)
  • life-endangering, severe birth defects
  • holoprosencephaly (failure of the brain to divide into 2 hemispheres)
  • die before 1st birthday, if they live = profound disability
A

trisomy 13

38
Q
  • caused by autosomal dominant inheritance in most cases and spontaneous mutation in some
  • Coloboma (lesion or defect, usually a cleft) of the lower eyelid
  • hearing losses
  • hypernasality
A

Treacher Collins Syndrome

39
Q
  • inherited neurological disorder which becomes evident in early childhood or adolesence
  • involuntary ties
  • swear words/obscene language
A

Tourette syndrome

40
Q
  • caused by genetic factors
  • microdontia: abnormal smallness of teeth
A

Russell-Silver syndrome

41
Q
  • autosomal dominant inheritance and deletion in the region of the long arm of chromosome 15 in some cases
  • imprecise articulation, oral-motor difficulty
  • developmental delays & intellectual disability
  • hypotonia
  • altered growth of the larynx
  • tooth decay
  • behavioral disturbances
A

Prader-Willi Syndrome (PWS)

42
Q
  • autosomal recessive inheritance in most cases
  • mandibular hypoplasia
  • glossoptosis (condition in which the tongue is positioned posteriorly)
  • feeding problems
A

Pierre-Robin Syndrome

43
Q
  • heterogenous causation, including agenesis or aplasia of the motor nuclei of the cranial nerves
  • bilabial paresis and weak tongue control
  • conductive hearing loss
A

Moebius Syndrome

44
Q
  • autosomal, dominant inherited disorder caused by mutations in the FBNI gene
  • about 70% of people have restrictive lung disease
A

Marfan Syndrome

45
Q
  • unknown cause
  • rare childhood neurological disorder
  • severe permanent language disorders
  • abnormal brain wave patterns detected through EEG
  • behavior disorders –> hyperactivity, aggressiveness, depression
  • treatment usually involves medications
A

Landau-Kleffner Syndrome

46
Q
  • rare, congenital metabolical disease caused by an autosomal recessive deficiency of X-L iduronidase
  • die early teens or before 10 years
  • dwarfism, hunch back, ID

“gargoylism”

A

Hurier’s syndrome

47
Q
  • leading inherited caused of ID in males
  • caused by an expansion of the nucleic acid cytosine - guanin - guanine (CGG)
  • mood instability, anxiety, seizurees, aggression
  • ID
  • jargon, echolalia, inappropriate language, social deficits
A

Fragile X syndrome

48
Q
  • caused by an extra whole # chromosome 21, resulting in 47, rather than the normal 46 chromosomes
  • hypotonia
  • conductive or sensorineural loss
  • language delays
  • hypernasality
A

Down Syndrome

Praxis (8 decks)

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