Craniofacial/Genetics

Question 1

What is NOT a etiological factor of cleft palate?
A. FASD
B. Rubella
C. Side effects of prescription drug use
D. X-linked inheritance in some syndromes
E. Stroke in the mother
F. Illegal drug use
G. Intrauterine crowding

Answer 1

E. Stroke in the mother

Question 2

When is the most crucial part for genetic malformation?

Answer 2

Embryonic period (first 7-10 weeks of gestation)

Question 3

Microforms

Answer 3

Minimal expressions of clefts (435)

Question 4

Submucous clefts

Answer 4

The surface tissue of the soft or hard palate fuse but the underlying muscle or bone tissue do not

Question 5

How to detect occult submucous cleft?

Answer 5

X-ray imaging and nasopharyngoscopy

Question 6

Congenital Pharyngeal incompetence

Answer 6

Not a form of cleft but a related disorder.
- Characterized by significant impairment of VP functions, as revealed by videofluoroscopy or endoscopy
- Typically have hypernasal speech

Question 7

Communication disorders associate with clefts
- Hearing Loss
- SSD
- LD
- Laryngeal and phonatory disorders

Answer 7

——– HEARING LOSS ——–
Children with cleft are prone to middle ear infections and hearing loss
Conductive hearing loss is the most common type
Eustachian tube dysfunction is also prevalent in children with clefts
——– SSD ——————-
More significant if palatal cleft not repaired early or repair is inadequate.
——— LD ——————–
May not be as significant as artic disorders unless other conditions are associated.
Initially delayed language development, with significant improvement as the child grows older
——– Laryngeal and phonatory disorder ——–
Higher prevalence of nodules, hypertrophy and edema of vocal folds, vocal hoarseness, resonance disorders

Question 8

Nasalance

Answer 8

Ratio formed between oral and nasal pressures, which is expressed as a percentage.

Question 9

Used to evaluate velopharyngeal structures and their functional relationships; this analysis informs decisions about surgery, therapy, and others

Answer 9

Cephalometric analysis

Question 10

Cephalometric Assessment of Velopharyngeal Structures (CAVS)

Answer 10

Computer program designed to analyze the ratio relationship between the depth of the nasopharynx and the length of the soft palate

Question 11

What is the ratio that generally indicates adequate tissue for velopharyngeal closure for speech? What ratio means the VP is too short or nasopharynx is too deep?

Answer 11

• 60 - 80
• Higher than 80 = VP too short/NP too deep

Question 12

Surgical management of clefts

Answer 12

440

Question 13

What is Electropalatography used for? Why is it useful?

Answer 13

Retainer created by orthodontist containing electrodes that is used to give immediate feedback of speech sound placements on a screen

Question 14

Name the syndrome:
- Symptoms: seizures, stiff and jerky gait, laughter and happy demeanor, easily excitable personality, hand-flapping mvmnts, short attention span
- Few or no words: Nonverbal communication and verbal receptive skills higher than verbal expressive skills

Answer 14

Angelman Syndrome

Question 15

Name the syndrome:
- Midfacial hypoplasia, craniosytosis, high forehead, increased intracranial pressure
- Conductive hearing loss
- Class III malocclusion, irregularly placed teeth
- Communication problems: hyponasality, forward carriage of the tongue, artic disorders
- Some have normal intelligence, other exhibit mild to moderate intellectual disability

Answer 15

Apert Syndrome

Question 16

Name the syndrome:
- High-pitched cry of long duration, cry resembles a cat in the infant
- low-set ears, laryngeal hypoplasia, microcephaly
- Artic and language disorders

Answer 16

Cri du Chat Syndrome

Question 17

Name the syndrome:
Physical characteristics:
- Craniosynotosis
- Midface/maxilla hypoplasia
- Hypertelorism (eyes far apart)
- Facial asymmetry
- Malocclusion class III
- Shallow oropharynx
- Brachycephaly (short head)

Communication problems:
- conductive hearing loss
- artic disorders associated w/ hearing loss
- Hyponasality
- language disorders
- Abnormalities of palatal oral cavity suture

Answer 17

Crouzon syndrome

Question 18

Name the syndrome:
- Generalized hypotonia, flat facial profile, small ears, nose and chin; bradycephaly
- midface dysplasia, shortened oral and pharynfeal structures, large and fissured tongue that tends to protrude, short neck with excess skin on the back, cardiac malformations
- Conductive loss in many cases and sensorineural loss in some cases

Answer 18

Down syndrome

Question 19

Name the syndrome:
Leading inherited cause of intellectual disabilities in males.
Physical characters:
- Big jaw, enlarged testes, high forehead.
- May manifest mood instability, anxiety, seizures, aggression, sleep disturbances and attention deficits
- Most males have intellectual disability - mild-moderate in childhood, becoming more severe in adulthood.
Communication problems:
- Jargon
- Perseveration
-Echolalia
- Inappropriate language or talk
- Males may have autistic-like social deficiencies (eye contact, withdraw socially, limited attention spans, hyperactive)
- Delays in pragmatic, semantic, phonologic and especially syntactic aspects of language.
- Intelligibility may be compromised. Early intervention is crucial with this population.

Answer 19

Fragile X syndrome

Question 20

Name the syndrome:
- Metabolical disease - most children die in their early teens, sometimes before 10 years old
- Previously known as “gargoylism”
- Dwarfism, hunchback, intellectual disability, short and thick bones, coarse facial features with a low nasal bridge, sensorineural deafness, noisy respiration.
- Vocal fatigue and hoarsness because of the deposition of metabolites in the larynx.
- Compromised intelligibility due to large tongue

Answer 20

Hurler’s syndrome

Question 21

Name the syndrome:
- Rare neurological disorder with unknown causes
- Formerly healthy children ages 3-7 lose their ability to comprehend language and then to speak it.
- Loss and resulting aphasia can be gradual or sudden.
- Can regain many of their language abilities over a span of months or years. For some children, relapses and remission occur.
- Abnormal wave patterns have been detected through EEG
- Usually have infrequent seizures - often at night
- Some children have accompanying behavior disorders (hyperactivity, aggressiveness, depression)

Answer 21

Ladau-Kleffner syndrome

Question 22

Name the syndrome:
- Mutations in the FBN1 gene. Affects the body’s connective tissue and may include bone overgrowth and loose joints. Overgrowth of the ribs can cause the sternum to bend inward or push outward
- Intelligence is not affected
- 70% have restrictive lung disease, which prevents chest from fully expanding - respiration is then affected and can lead of shortness of breath during speech

Answer 22

Marfan syndrome

Question 23

Name the syndrome:
- Involvement of the facial and hypoglossal nerves and trigeminal nerve in some cases
- Bilabial paresis and weak tongue control
- Unilateral or bilateral paralysis of the abductors of the eye
- Mask-like face
- Conductive hearing loss in some cases

Answer 23

Moebius syndrome

Question 24

Name the syndrome:
- Mandibular hypoplasia, cleft of the soft palate, velopharyngeal incompetence, deformed pinna and low-set ears
- Sometimes born with glossoptosis (tongue is positioned psoteriorly, often causing blockage of the airway and pharynx). This affects breathing and feeding
- Many infants require other ways of feeding such as nasogastric tube or gastronomy tube
- Conductive hearing loss associated with otitis and cleft palate

Answer 24

Pierre-Robin syndrome

Question 25

Name the syndrome:
- Low muscle tone, early feeding difficulties failure to thrive initially
- Obesity after the first year - excessive eating
- Underdeveloped genitals

Answer 25

Prader-Willi Syndrome

Question 26

Name the syndrome:
- Low birthweight, small for their gestational age, and are considered to have dwarfism
- Asymmetry of arms or legs, disproportionately large head, craniofacial disproportion (microdontia - abnormal smallness of teeth)

Answer 26

Russell-silver syndrome

Question 27

Name the syndrome:
- Uncontrollable vocal sounds (tics) and repeated involuntary movements
- No known causes

Answer 27

Tourette syndrome

Question 28

Name the syndrome:
- Underdevelopped facial bones, including mandibular hypoplasia and malar (cheek), dental malocclusion and hypoplasia
- Coloboma (lesion or defect, usually a cleft) of the lower eyelid, atresia of the external auditory canal, malformations of the pinna, and middle and inner ear malformations

Answer 28

Treacher Collins syndrome

Question 29

Name the syndrome:
- Congenital heart defects, severe brain anomalies, spina bifida, severe eye defects, clef lip and palate, polydactyly (extra fingers or toes)
- Holoprosencephaly (failure of the brain to divide into two hemispheres)

Answer 29

Trisomy 13

Question 30

Name the syndrome:
- Only occurs in females
- Caused by a missing or deformed X chromosome
- ovarian abnormality, resulting in absence of menstruation and infertility
- Congenital swelling of the feet, neck and hands
- Micrognathia (abnormal small lower jaw)
- middle ear infections during infancy and childhood

Answer 30

Turner syndrome

Question 31

Usher syndrome

Answer 31

451

Question 32

Name the syndrome:
- Most commonly associated with cleft palate, usually a cleft of the soft palate
- Not every child has the same anomalies
- Most common ones: middle ear infections, learning problems, speech and feeding problems
- Usually, velopharyngeal insuffency is present

Answer 32

Velocardiofacial syndrome

Question 33

Name the syndrome:
- Also called elfin-faced syndrome as they have a physical resemblance of elves
- Small boned and short, with a long upper-lip, wide mouth full lips, small chin, upturned nose and puffiness around the eyes.
- Most of them have IQs between 50 and 70, however can show high intelligence in certain areas (ex. music, language)
- Often have charming personalities - courteous, loving and unafraid of strangers

Answer 33

Williams syndrome

Question 34

Discuss how cleft palate arises.

Answer 34

Cleft palate forms if facial ridges don’t fuse properly in embryological development from sides and top of head. Cleft palate can lead to a variety of issues, including feeding/swallowing and nasal air emissions impacting speech intelligibility.

Question 35

How does substance consumption impact embryological development?

Answer 35

Early in embryological development, there are many processes that could be impacted by consuming substances like alcohol and drugs. These may impact the development before a pregnant person even knows they are pregnant (e.g., FASD), which may in turn impact speech or language development.

Question 36

How does premature birth impact development?

Answer 36

Risks of a lack of folds in the brain; the brain cortex is not developed fully and prepared for birth. White matter is not fully developed in premature children.

Question 37

What’s the first surgery done with cleft palates? What’s the outcome of it?

Answer 37

First repair is a palatoplasty. However, 1/3 of children undergoing this surgery fails. Any other surgery afterwards would be considered a palatoplasty revision, or a pharyngoplasty is done.

Question 38

Symptoms of cleft palate

Answer 38

1. Speech sound
2. Substitutions
3. Hypernasality
4. Reduced oral pressure
5. Nasal air emission

Question 39

How can you assess hypernasality?

Answer 39

1. Assess in connected speech.
2. Use oral-loaded sentences like pick up a puppy; buy baby a bib; take teddy a toy.
   These oral consonants and vowels will sound hypernasal and the oral pressure consonants might sound more like their nasal cognates (i.e. /b/ sounds more like an /m/).
3. Open and close the nares during sustained /i/
   If /i/ sounds different with nose open vs. nose closed, hypernasality is likely present.

Question 40

How can you assess hyponasality?

Answer 40

1. Assess in connected speech.
2. Use nasal-loaded sentences like mama made lemonade or counting from 90 to 99.
   These nasal consonants will sound “stuffy” and may sound like their oral cognates (i.e. /m/ sounds more like a /b/) if hyponasality is present.