13b. Special Topics: CRANIOFACIAL ABNORMALITIES Flashcards
1
Q
Cleft Lip
A
- Cleft: an opening is a normally closed structure; Cleft lip is an opening in the lip, usually the upper lip
- Cleft lip alone is rare; usu associated w/ cleft palate; but cleft palates are often not associated w/ cleft lip
- Congenital (and may/may not be inherited)
- Usu unilateral, usu. left side
- Cleft lips alone rarely result in speech disorders
2
Q
Cleft Palate
A
- Palatal clefts are various congenital malformation resulting in an opening in the hard palate, the soft palate, or both
- These malformations are due to disruptions of the embryonic growth processes resulting in a failure to fuse structures that are normally fused
- Cleft palates may be part of a genetic syndrome with other anomalies; cleft lip and palate is etiologically different from cleft palate only
3
Q
Etiology of Clefts (3)
A
**Genetic Abnormalities: autosomal dominant, recessive, x-linked, chromosomal
- Environmental Teratogenic Factors: fetal alcohol syndrome, illegal drug use, prescription drug side effects, rubella
- Mechanical Factors: intrauterine crowding, twinning, uterine tumor, amniotic ruptures
4
Q
Classification of Clefts: General
A
- Classified in different ways; no system of classification captures the variations and combos found in clefts
- Clefts vary in extent, often measured in thirds (1/3. 2/3. 3/3), and widths
5
Q
Classification of Clefts: Major Types (6)
A
- Cleft lip (complete/incomplete, unilateral/bilateral)
- Cleft of alveolar process (unilateral, bilateral, median, or submucous)
- Cleft of prepalate (combo of prev. types w/ or w/o prepalate protrusion or rotation)
- Cleft palate (of the soft palate, hard palate, or submucous)
- Cleft of prepalate and palate (any combo of clefts of prepalate and palate)
- Facial clefts other than prepalate and palate (e.g., such rare forms as horizontal clefts, lower mandibular clefts, lateral oro-ocular clefts, and naso-ocular clefts)
6
Q
Classification of Clefts: Cont’d
A
- Microforms: minimal expressions of clefts, including the hairline indentation of the lip or just a notch on the lip; only revealed via laminographic examination
- Microforms include submucous clefts (aka occult cleft palate), in which the surface tissues of the soft or hard palate fuse but the underlying muscle or bone tissues do not
- In a submucous cleft of the soft palate, there is a midline deficiency or lack of muscular tissue as well as incorrect positioning of the muscles (a bifid/cleft uvula may be present)
- In a submucous cleft of the hard palate, there is a bony defect in the midline of the bony palate (feels like a depression/notch in the bony palate if palate is palpated as part of an intraoral examination)
- Usually child w/ submucous cleft palate has hypernasal speech; ear infections may also be present
- An occult submucous cleft is only detectable by X-ray exam and nasopharyngoscopy
7
Q
Cleft Palate: Treatment
A
- Surgery
- Placement of prosthetic device to compensate for VP incompetence
- Therapy to reduce hypernasality
- Combo of these
8
Q
Congenital Palatopharyngeal Incompetence (CPI)
A
- Not a form of clefting, but a related disorder
- Impaired VP closing-valve functioning as revealed by videofluoroscopy or endoscopy (inadequate VP closure), although laryngeal structures appear normal
- Causes: a short palate, an occult submucous cleft palate, reduced soft palate muscular mass, a deep or enlarged larynx, incorrect insertion of levator muscles (insertion to hard palate vs soft palate), or combo
- Pts typically have mild-severe hypernasal speech
[Tx: surgery, prostheses, speech tx for hypernasality, combo]
9
Q
Communication Disorders Associated with Clefts (4)
A
Hearing Loss
Articulation Disorders
Language Disorders
Laryngeal and Phonatory Disorders
10
Q
Comm. Dis. Associated with Clefts: HEARING LOSS
A
- More prone to ME infections and hearing loss
- Most common cause of HL in kids w/ cleft palate is otitis media; otitis media with effusion compromises movement of ossicular chain and TM
- Eustachian tube dysfunction is also prevalent, which increases chances of conductive hearing loss
- In babies w/ cleft palate, ET dysfunction is probably most related to the lack of contraction of the tensor veli palatini and compromised compliance of the tubal wall
- After palatal reconstructive surgery, tensor veli palatini dysfunction improves but may never normalize; chronic otitis media with effusion continues to be a prob
- Incidence of HL in cleft palate population: ~58%
- Usually the hearing loss is bilateral and conductive, but not necessarily symmetrical
11
Q
Comm. Dis. Associated with Clefts: ARTICULATION
A
- Greater difficulty with unvoiced sounds (vs voiced sounds), pressure consonants, audible or inaudible nasal air emission, and distortion of vowels
- Difficulty with sibilants (e.g., /s/, /z/) and high pressure stops (e.g., /p/, /b/) and fricatives (e.g., /f/, /v/)
- Compensatory errors incl. various types of substitutions to compensate for the inadequate closure of VP mechanism
12
Q
Comm. Dis. Associated with Clefts: LANGUAGE
A
- May not be as significant as artic probs unless other conditions are associated; normal lang in many cases
- Initially delayed lang development, sig. improvement as child grows older, normal lang by age 4
- Sig. lang disorders in kids whose clefts are part of a genetic syndrome that incl. HL, developmental disabilities, sensory probs, etc
- Normal receptive lang, delays in expressive lang
13
Q
Comm. Dis. Associated with Clefts: LARYNGEAL and PHONATORY DISORDERS
A
Higher prevalence of laryngeal/phonatory disorders
- Vocal nodules
- Hypertrophy and edema of VFs
- Vocal hoarseness, reduced vocal intensity, reduced pitch variations, and strangled voice
- Resonance disorders characterized by hypernasality, hyponasality, denasality, or a combo
14
Q
Assessment of Children with Clefts: VP Function
A
- Judgments about hyper- and hyponasality, whose presence indicates VP inadequacy
- Endoscopic exam of VP mech. (nasopharyngoscopy)
- Videofluoroscopic exam of VP mechanism to observe movements of structures during phonation
- Oral manometer: judge of pressure when nostrils are open/closed; ratios less than 1.0 (esp.
15
Q
Assessment of Children with Clefts: Articulation Dis.
A
- Standard procedures used in assessing similar disorders in children without clefts
- However, special considerations given to assess kinds of errors and compensatory error patterns that are typical for kids with cleft palates (e.g., pressure Cs)
- Iowa Pressure Articulation Test (subtest of Templin Darley Test of Articulation)
- Speech samples (for overall intelligibility and effect of context and natural prosodic patterns)
