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CMSD5260 Hearing Disorders > Genetic Hearing Loss with Other Abnormalities ll > Flashcards

Genetic Hearing Loss with Other Abnormalities ll Flashcards

1
Q

What is Cleft Lip/Palate? (2)

A
  1. Usually divided into cleft lip (CL) +/- cleft palate (CP) and cleft palate (CP) alone
  2. CL is more devastating to caregivers but CP is more serious for child

Facial clefting is the 2nd most common congenital deformity (1st clubfoot)

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2
Q

What is the epidemiology distinction of CP and CL?

A

CL +/- CP
1/1000 births
Natives > Asians > Caucasians > Blacks
M > F (2:1)

CP
1/2000 births
Natives = Asians = Caucasians = Blacks
F > M (2:1)

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3
Q

What are the 5 important parts of the lips?

A
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4
Q
A
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5
Q

What are the muscles of the palate? (7)

A

Levator veli palatini raise the palate up
Tensor veli palatini Raise the palate up
(Muscularis uvulae)
(Palatopharyngeus)
(Palatoglossus)
(Superior constrictor)
(Salpingopharyngeus)

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6
Q

What are two important muscles that raise the palate?

A

Levator veli palatini raise the palate up
Tensor veli palatini Raise the palate up

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7
Q

What are the classifications of CL and CP ?

A

CL +/- CP
CP
Unilateral, bilateral
Right, left
Complete, incomplete
Primary, secondary

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8
Q

Where do the facial prominences come from in Embryology?

A
  • Facial prominences

Derived from 1st pharyngeal arch
4th week onwards

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9
Q

What are the 3 Facial prominences?

A

Frontonasal prominence
Maxillary prominences
Nasal prominences (lateral and medial)

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10
Q

What forms after the lips?

A

Primary and then secondary palate

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11
Q

Describe the palate in embryology:

A

5-12 weeks
Primary palate
Forms 1st
Medial nasal prominences
Anterior to incisive foramen
4 incisors

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12
Q

Describe the secondary palate in embryology:

A

8-12 weeks
Forms after primary palate
Posterior to incisive foramen
Fusion of palatine shelves (maxillary prominences)
Fusion occurs anterior to posterior

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13
Q

What factors could be the cause of CL and CP?

A
  • Multifactorial
    Genetic (Msx1, TGF-B) or syndromic
    Environmental
    Teratogens (EtOH, tobacco, phenytoin, retinoic acid)
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14
Q

More than 200 syndromes are associated with CL/P, provide 5:

A

Apert
Stickler
Treacher Collins
Waardenberg
Pierre Robin sequence

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15
Q

CL and CP are conditions also known as:

A

Hare lip

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16
Q

What are the associated problems of CLP?

A

-Cosmetic, emotional/social, facial growth, dental, speech, swallowing/feeding, hearing

CP-no separation between nose and mouth

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17
Q

How can CL and CP affect speech? (4)

A

CL-unable to fully close lips (sometimes even after repair)
CP-abnormal palatal movement
Errors in articulation (fricatives, plosives)
Velopharyngeal incompetence (VPI)

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18
Q

What is Velopharyngeal incompetence (VPI) examples from CP and CL? (2)

A

Hypernasal speech
Nasal regurgitation

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19
Q

What problems do babies have from mainly CP?

A
  • CP kids have limited ability to suck (no seal)
    Pigeon bottles)
    Frequent burps
    Positioning

CL only usually ok

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20
Q

Which objects could help babies with CP during feeding? (2)

A

Obturators (for breastfeeding)
CP feeders (Mead-Johnson, Haberman, Pigeon bottles)

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21
Q

How can CL and CP affect hearing? (2)

A

CL-OM incidence similar to normal population
CP-most have eustachian tube dysfunction (ETD), OME and CHL

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22
Q

ETD from CP is due to:

A

Abnormal insertion of levator veli palatini and tensor veli palatini muscles into the posterior hard palate

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23
Q

ETD in CP patients can also lead to:

A

late-onset cholesteatoma

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24
Q

Because of ETD
_____% CP kids require ________________ and
up to ____% require 2nd set

A

> 90% CP kids require ear tubes
Up to 50% require 2nd set

ETD may improve after cleft palate repair

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25
Q

When is Velopharyngeal Insufficiency (VPI) seen? (3)

A

Frequently seen after CP repair
Infrequently in children without CP
Also commonly seen in submucous cleft palate

26
Q

In which syndrome is submucous cleft palate commonly found?

A
  • Commonly found in velocardiofacial syndrome

*Usually not obvious
Bifid uvula
Zona pellucida (midline dehiscence)
Notch in posterior hard palate

27
Q

What is the function of the velopharyngeal sphincter? (2)

A

Positioned between oral and nasal cavities
Necessary for normal eating and breathing
Necessary for intelligible speech

28
Q

What are the clinical symptoms seen from VPI? (3)

A

Hypernasal resonance/nasal air emission
Compensatory articulation errors are often present, decreasing intelligibility
Nasal regurgitation of food

29
Q

What is the gene that causes velocardiofacial and the characteristics seen of the face?

A
  • 22q11 deletion (DiGeorge, Shprintzen) IMPORTANT!
  • Characteristics
    Elongated face
    Almond eyes
    Long, wide nose
    Low-set ears
    Hypoplastic mandible
    Open-mouthed
30
Q

How does velocardiofacial disorder affect hearing?

A
  • Long, tapered fingers
  • Hypotonia
  • CP (CL)
    Submucous CP
    VPI
    OME/CHL
  • Airway
    Anterior glottic web
31
Q

What can velocardiofacial cause?

A

Sporadic mutations
Developmental delay
Congenital heart disease
Thymic aplasia
Hypoparathyroidism
hypocalcemia

32
Q

How can VPI be detected in speech? (3)

A
  • All phonemes in English except /m/ /n/ and /ng/ require VP closure
  • VPI is often more pronounced on certain sounds
    “s” “sh” “f”, plosives (p, b)
  • More pronounced with complex/faster speech than individual sounds
33
Q

How is VPI diagnosis important in SLP?

A
  • SLP assessment is often the most valuable tool
    Assess nasality and stimulability for improved velopharyngeal closure with therapy
    Associated articulation errors
34
Q

What is a test for VPI diagnosis?

A
  • Nasometer readings
  • Videofluoroscopy
35
Q

How does Nasometer readings work for VPI-Diagnosis?

A

Degree of nasal vs oral air emissions
Speech nasopharyngoscopy
Direct assessment of VP motion

35
Q

How does Nasometer readings work for VPI-Diagnosis?

A

Degree of nasal vs oral air emissions
Speech nasopharyngoscopy
Direct assessment of VP motion

36
Q

What is this device?

A

Speech Nasopharyngoscopy

37
Q

How can we treat VPI?

A
  • Speech therapy
    Articulation errors (compensatory)
    Therapy aimed at improving velopharyngeal closure
    Visual feedback devices
  • Devices
    Nasal continuous positive airflow (strengthen palatal muscles)
    Prosthesis (palatal lift, obturator)
  • Surgery
    Depends on VP closure pattern
    Pharyngeal flap
    Sphincter pharyngoplasty
    Furlow palatoplasty
38
Q

What is Treacher collins?

A
  • rare, genetic condition affecting the way the face develops — especially the cheekbones, jaws, ears and eyelids: another name is Mandibulofacial dysostosis

Microtia, atresia
Midface/mandibular hypoplasia
Downslanted eyes
Coloboma (lower)
Cleft palate
Normal intelligence

39
Q

What are the physical characteristics seen in Treacher collins?

A
40
Q

What is the genetic incidence of Treacher Collins?

A

Franceschetti-Zwahlen-Klein syndrome
Autosomal Dominant
TCOF1 gene mutation
Variable expression

41
Q

How can Treacher Collins affect hearing?

A
  • Conductive hearing loss in 30% from:
    Microtia, atresia
    Ossicular malformation
    SNHL and vestibular dysfunction
  • Upper airway obstruction
42
Q

What is the Pierre Robin Sequence?

A

Born with a small lower jaw, have difficulties breathing (airway obstruction) and often (but not always) have a cleft of the palate (an opening in the roof of the mouth).

  • Micrognathia -> Glossoptosis ->
    Upper airway obstruction
    Cleft palate (50%)
43
Q

What is Micrognathia?

A

Mandibular hypoplasia

44
Q

What is Glossoptosis?

A

Tongue remains high and posterior in the oral cavity

45
Q

Cleft Palate from PRS is a result from:

A

Results from failed closure of palate shelves

46
Q

What can PRS cause? (5)

A

Airway obstruction
Feeding problems
Ear anomalies
CHL, SNHL, mixed
Can occur with other syndromes

47
Q

What are the 5 steps audiology practice in clinic?

A

History (most important)
Physical exam
Hearing assessment
Investigations/tests
Appropriate treatment and referrals

48
Q

What should we take in consideration in History during patient evaluation?

A

Review of perinatal maternal/fetal history
Detailed Family History

49
Q

A review of perinatal maternal/fetal history involves:

A

Any infections, medications,…
Remember high risk register

50
Q

A detailed family history involves:

A

Any family members with permanent childhood hearing loss

Any syndromes that run in the family

51
Q

What should we take into consideration during the physical exam?

A

Careful physical examination to look for any features that are variant from normal or syndromic/dysmorphic

52
Q

What would be features that are variant from normal or syndromic/dysmorphic for physical exams?

A

Face: asymmetry, pre-auricular skin tags, head shape,…
Eyes: shape of palpebral fissures, color of iris
Ear: microtia, EAC
Skin, extremeties

53
Q

What are diagnosis tests we should do in Audiology?

A

OAE
Individual ear testing (often for screening)
False positives
Remember auditory neuropathy

ABR
Can test individual ears; CHL vs SNHL
Needs natural sleep/sedation/GA
Can be abnormal in neurological disorders

54
Q

What are three types of audiometry testing we could do depending on the age of the child?

A

Soundfield audiogram
Children 6 - 24 months
Can miss unilateral hearing loss

Play audiometry
2 - 4 years, depending on cooperation, developmental age
Individual ear testing

Regular audiometry

55
Q

What would a U-shape or cookie-bite could indicate from the audiogram?

A

hereditary hearing loss

56
Q

What are other tests that could help for HL diagnosis?

A
  1. Imaging of the ear (temporal bone, CNS)
    CT, MRI
  2. Genetic testing
  3. Testing for infections
  4. Lab testing (urinalysis, TSH,…)
  5. Ophthalmology consultation
  6. Genetics consultation/counseling
57
Q

What are practical workups from Bilateral moderate or worse HL?

A
  • Bilateral moderate or worse HL (> 40 dB)
  • Connexin 26 (+/-30) testing
    If abnormal, Genetics consult, no further testing
    If normal
  • CT/MRI
    If bilateral LVA/Mondini, test for SLC26A4 (Pendred)
    If normal
  • EKG, renal ultrasound, Ophthalmology consult
58
Q

What are practical workup from Unilateral SNHL?

A
  • Unilateral SNHL
    CT temporal bone to look for LVA, etc
  • Mild (< 40 dB) unilateral or bilateral SNHL
    CT temporal bone to look for LVA, etc
    Other tests as clinically indicated
59
Q

What is ankyloglossia?

A
  • Aka tongue-tie
  • Shortened lingual frenulum
    -May cause: breastfeeding difficulties, social problems, (unlikely speech problems)
  • Treated by frenotomy
60
Q

What is Microglossia?

A

Rare
Problems with chewing, speech, swallowing
Usually occurs with craniofacial anomalies

61
Q

What is Macroglossia?

A

Can occur in Trisomy 21, Hunter’s, Hurler’s Beckwith-Wiedman syndromes
Airway obstruction
Feeding problems

CMSD5260 Hearing Disorders (12 decks)

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