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Cleft & Genetic syndromes ch 10 Flashcards | StudBud
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Cleft & Genetic syndromes ch 10
Cleft & Genetic syndromes ch 10
20 terms
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1
Which Tx goals would SLP chose for the 5yo Tom?
Morphology - they have above average IQ but usually delete bound morpheme
Pragmatics, to increase Tom's ability to interact with others
Oral-motor coordination as this problem can contribute to decreased intell
General express & recept lang as typical IQ of affected children is 50-70
2
Surgical cleft repair- raising 2 bipedicled flap of mucoperiostium > bring together > attaching them close to the cleft
von Langenbeck surgical method
Veau Wardill-Kilner method
Pharyngeal flap procedure
V-Y retroposition
3
VP assess 17yr w/ Cleft lip/palate repair. Access manometer, nostril occl & nostrils open cond. Recom Pharyngeal flap?
Ratio 1.0 (normal)
Ratio 1.2
Ratio .87 (VPI)
Ratio .96 (VPI)
4
16 yr, Fragile X syndrome. What do you expect to find, when you evaluate Max?
SSD, normal intelligence, expressive lang delay, micrognathia
Attention deficts, large tongue, sleep dist, high potruding forehead
ID, pragmatic delays , semantic phonology and syntax probl
Gargoylism, tracheal stenosis, brachycephaly, and hypotonia
5
Midface dysplasia high narrowed arched palate, sev large fissure tongue that protr HL SSD Hypotonia brachycephaly
Crouzon syndrome
Hurler sydrome
Down syndrome
Cri Du Chat syndrome
6
Child has Hurler syndrome. This is caused by...
A spontaneous autosomal dominant mutation of FGR-2 at 10q25-26
Autosomal recessive deficiency of X-L iduronidae
Expanded # of C-G-G nucleic acid on specific gene on 1 end of Y chromosome
Auto dominant inheritance/deletion @ long arm of chromosome 15 -15q11-15q13
7
Asses of VP mechanism. w/nasalpharyngoscopy, SLP will observe the child's
Post&lat pharyn wall, nasal aspect of velum, adenoid as child produce sente
Posterior & lateral pharyngeal wall as well as adenoid pad w/sustained AAH
Adenoid pad, anterior pharyngeal wall as child produce S
Nasal aspect of velum, adenoids pad as child produce CVC
8
5 yr Cleft palate repaired, history of conductive HL, secondary to otitis media w/ effusion, Troub w/ Aff, fricat, plos
Hypertrophied Adenoids
Vocal nodules
VP closures
Maxillary deficiendy
9
The syndrome is caused by a rare genetic disorder that affect approx 1 in 20,000 babies. It is caused by
Deletion of approx 25 genes on a copy of chromosome 7q11-23
Expanded # of C-G-G neucleic acid repeat on specific gene on X chromosone
Spontaneous autosomal dominant mutation on FGR2 at 10q25-26
A missing part of chromosome 22, 22q11
10
Language loss 4 yr, seizures, more hyper active?
Landau-Kleffner syndrome
Williams syndrome
Pierre Robin Syndrome
Treacher Collin syndrome
11
Repaired cleft palate unintell, SSD, procedure- palate w/62 electrodes. When tong contact electrodes artic pattern seen
Electroglottography
electopalatography
Myomanometry
palatomyography
12
Children w/bilateral cleft lip or palate may have problems with their teeth. A common problem for these children is
Teeth that are too small
Hypodontia - missing teeth
Supernuerary teeth
Teeth erupting out of the hard palate
13
In utero, the ard palate fuses between the developmental age of
1 and 2 weeks
10 and 12 weeks
8and 9 weeks
5 and 6 weeks
14
Diffic with respira, working on breathing tech. Concerned about passing Marfan syndrome, SLP refer to genetic counselor
Not genet transfe to offsprings, so parents do not need to be concerned.
An autosomal dominant inherited disordere caused by mutation in the FBN1
Partial deletion syndrome caused by mutation in the FBN2 gene
An autosomal recessive disorder caused by mutation in the FBN1 gene
15
Resonance prob surg needed, cephalometric assess VP structure to compare legth of soft palate to the length of nasophary
Ratio higher than 80 means nasopharynx is too shallow and velum is too long
Ration less than 60 found when nasopharynx is deep or Soft palate is long
Ratio less than 60 is usually found when short soft palate shallow nasoph
Ratio 60-80 indicates adequate tissue for VP closure for speech
16
Child has Moebius syndrome w/frequent hospitalization SLP expects child to have
Hypotonia, feeding difficult FTT, obese post 1yo, underdeveloped genital
Undevelop facial bone , mandib/malar hypoplasia, malocclu, downslant palpeb
Delayed lang & artic, bilab paresis, weak tongue control, masklike face,
Small maxila sphenoethmoidal synchondrosis, occu hypertolerism, face asym'y
17
A condition in which the surface tissue of the palates fuse underlying muscle or bones do not is called
Submucal cleft class 1V
sub-mucous or occult cleft palate
Class 111 palatal cleft
Fusion disorder
18
With cleft palate, eustacean tube dysfunctionis probably mostly related to the lack of contraction of the ?
The palatopharyngeus muscle
Veli palatini muscle
Levator veli palatini muscle
Tensor veli palatini muscle
19
Small 5yo Tom w/elfin face, small chin upturned nose, puffy round eyes long upper lip, wide mouth small widespaced teeth
Apert syndrome
Moebius syndrome
William syndrome
Turner syndrome
20
Cleft palate can be caused by genetic or mechanical factors. Which of these is NOT a cleft related mechanical factor
Twinning
Uterine tumor
Illegal drugs used by birth mother
Interuterine crowding
