Cranio Facial Abnomalities . When the bones fuse together too early, the brain can become damaged

Craniofacial malformations, including craniosynostosis, are the result of an infant's skull or facial bones fusing together too soon or in an abnormal way. When the bones fuse together too early, the brain can become damaged as it grows and cannot expand properly, and the infant may develop neurological problems.

1. Craniofacial Anomalies: An
Overview
Borrowed from the works of Dr. David J. Zajac,
PhD, CCC-SLP
At the Craniofacial Center
University of North Carolina at Chapel Hill
http://www.unc.edu/~dzajac

2. Cleft Facts
•Most frequent facial birth defect
•Approximately 1of 750 live births
•Racial bias
–Oriental
–Caucasian
–African American
•Sex bias
–Cleft lip & palate: M>F
–Cleft palate only: F>M

3. Left
CLP

4. Types of Clefts
•Cleft Lip and Palate
–Bilateral
–Left unilateral (most frequent)
–Right unilateral
•Cleft Lip Only
–Bilateral
–Left/right unilateral
–Median (rare)
•Cleft Palate Only
–Soft palate
–Soft and hard palate
–Submucous

5. Embryologic Classification
•Clefts of Primary Palate
–Structures anterior to incisive foramen (lip,
alveolar ridge)
•Clefts of Secondary Palate
–Structures posterior to incisive foramen (hard
palate, soft palate, uvula)
•Complete vs. Incomplete Clefts

7. Bilateral CLP

8. Median Cleft Lip (facial
cleft) - mild

9. Median Cleft Lip
(facial cleft) -
severe

10. Bifid (split) Uvula

11. Bifid Uvula
(Submucous Cleft Palate)

12. Soft and Hard Cleft Palate

13. Soft and Hard Cleft Palate

14. “Typical” Timing of CL/P Surgeries
•Lip repair at approx. 3 months
•Palate (soft/hard) repair at approx. 9-12 months
–Often delayed to 18 months or later
•Alveolar cleft repair at approx. 7-9 years
–Why so late?
–Europe: delayed hard palate repair also
•Impact of surgical timing on speech and
language acquisition?

15. Speech Production in Cleft Palate
•CP affects all subsystems
–Respiration
–Laryngeal
–Articulation
•Obligatory errors - m/b
•
Compensatory errors (?/p)
–Resonance
•Hypernasality
•Hyponasality

16. Traditional Speech Characteristics
of VPI
•Obligatory
–Hypernasality
–Audible nasal emission (ANE)
–Weak pressure consonants
•Compensatory
–Misarticulations

17. Normal Speech/Language
Acquisition
•0 to 3 months (lip not repaired)
–Crying, cooing, non-linguistic sounds
•4 to 12 months (palate not repaired)
–Vocalizations
–Prelinguistic babbling
–Linguistic babbling
–Perhaps first words
–Consonants used: b, d, g, h, w, j

18. Normal Speech/Language
Acquisition
•1 to 2 years (alveolar cleft not repaired)
–First true words
–Beginning of 2-word utterances (after 50
words)
•2 to 3 years (alveolar cleft not repaired)
–Rapid vocabulary growth
–Rapid sentence growth
–80% of speech should be intelligible to
strangers

19. Normal Speech/Language
Acquisition
•3 to 7 years (alveolar cleft not repaired)
–Completion of phonetic inventory (mastery of
consonants)
•Nasals
•Stop-plosives
•Fricatives/sibilants
•Affricatives

20. Cleft Impact on Speech
Development?
•Speech therapy if sounds not mastered by
kindergarten/1
st
grade
–Non-Cleft: approx. 6-10%
–Cleft: approx. 60-70%!
•Why?
–Abnormal dental/alveolar structures
–Marginal or inadequate VP function
–Reduced hearing

21. c
m

H
2
O
0
2
4
6
8
10
12
time (s)
0.5 1.5 2.5 3.50.0 1.0 2.0 3.0 4.0
m
l/
s
0
50
100
150
200
Oral Pressure
Nasal Airflow
/pi/: Cleft Speaker - Normal Closure
/p/ /p/ /p/

22. c
m

H
2
O
0
2
4
6
8
10
time (s)
0.5 1.5 2.5 3.50.0 1.0 2.0 3.0 4.0
m
l/
s
0
100
200
300
400
Oral Pressure
Nasal Airflow
/pi/: Cleft Speaker - Marginal Closure
/p//p/ /p/

24. Dental/Alveolar Anomalies
•Missing teeth
–Often in cleft site (maxillary lateral incisor or
canine)
–When present, smaller, misshapened, and/or
rotated
•Supernumerary (or ectopic) teeth
–Extra teeth in cleft line
–Ectopic – normal tooth in wrong position

25. Dental/Alveolar Anomalies
•Cross bites (lower teeth overlap upper)
–Anterior crossbite (often in Class III)
–Posterior crossbite (often due to
narrow/collapsed maxilla)
•Protruding Premaxilla
•Oro-Nasal Fistula (ONF)

29. Left CL/P & Maxillary Collapse

30. Protruding Premaxilla

31. OroNasal Fistula (ONF)

32. 16/24 (67%) Consonants Involve
Alveolar/Palatal Structures!

33. Hearing Issues
•High prevalance of eustachian tube (ET)
dysfunction in cleft palate
•Normal eustachian tube function
–Aeration of middle ear
–Equalization of pressure in middle ear and
atmosphere
–Drainage of middle ear fluid into nasopharynx

35. Causes of ET Dysfunction in CP
•Abnormal insertion of muscles into
posterior border of hard palate
•More horizontal position of tubes in infants

38. Prelinguistic and Phonologic
Development in Cleft Palate
•Infants
–Limited sounds and syllables during babbling
–Olsen (1965):
•cleft babies had fewer tip-alveolar, bilabial stop,
and fricative sounds compared to non-cleft babies
•cleft babies produced pharyngeal fricatives and
stops as compared to non-cleft babies

39. Prelinguistic and Phonologic
Development in Cleft Palate
•Infants
–Chapman (1991): most frequent sounds of
non-cleft babies – d, g, h, w, j, b
–Chapman (1991): most frequent sounds of
cleft babies (unrepaired) – h, w, n, m, j

40. Early Lexical Development
•In general
–Delayed first words
–Words beginning with nasals, vowels, and
approximants
–First words occur after palate repair

41. Socio-Communicative Skills in Cleft
Palate
•Early studies suggested reduced social
responsiveness in CP children
•Recent studies show no differences
•Chapman & Hardin (1990)
–Suggested that older children with CP know
social communication skills but choose to limit
interactions due to previous negative
experiences

42. Otitis Media and Language
Development in Cleft Palate
•Hubbard et al. (1985)
–24 children with CP
–12 early, aggressive ear care
–12 late or no ear care
–Better hearing (dB HL) and consonant
articulation in early care group
–No language or cognitive differences

43. Psychosocial & Education Issues In
Cleft Palate
•Birth: Early demands (stressors) on
parents
–Feeding anxiety
–Reactions of friends/relatives
–Medical care
•Diagnostic evaluations
•Hospitalization(s) for surgery – “core stressor”

44. Intelligence (age 9-16 yrs.)
•Lower IQ in some early studies
•Lower IQ for CPO in some early studies
•Later studies – Generally normal IQ
(perhaps Verbal ability reduced)