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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
When is Velopharyngeal Insufficiency (VPI) seen? (3)
Frequently seen after CP repair Infrequently in children without CP Also commonly seen in submucous cleft palate
26
In which syndrome is submucous cleft palate commonly found?
* Commonly found in velocardiofacial syndrome *Usually not obvious Bifid uvula Zona pellucida (midline dehiscence) Notch in posterior hard palate
27
What is the function of the velopharyngeal sphincter? (2)
Positioned between oral and nasal cavities Necessary for normal eating and breathing Necessary for intelligible speech
28
What are the clinical symptoms seen from VPI? (3)
Hypernasal resonance/nasal air emission Compensatory articulation errors are often present, decreasing intelligibility Nasal regurgitation of food
29
What is the gene that causes velocardiofacial and the characteristics seen of the face?
* 22q11 deletion (DiGeorge, Shprintzen) IMPORTANT! * Characteristics Elongated face Almond eyes Long, wide nose Low-set ears Hypoplastic mandible Open-mouthed
30
How does velocardiofacial disorder affect hearing?
* Long, tapered fingers * Hypotonia * CP (CL) Submucous CP VPI OME/CHL * Airway Anterior glottic web
31
What can velocardiofacial cause?
Sporadic mutations Developmental delay Congenital heart disease Thymic aplasia Hypoparathyroidism hypocalcemia
32
How can VPI be detected in speech? (3)
* 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
How is VPI diagnosis important in SLP?
* SLP assessment is often the most valuable tool Assess nasality and stimulability for improved velopharyngeal closure with therapy Associated articulation errors
34
What is a test for VPI diagnosis?
* Nasometer readings * Videofluoroscopy
35
How does Nasometer readings work for VPI-Diagnosis?
Degree of nasal vs oral air emissions Speech nasopharyngoscopy Direct assessment of VP motion
35
How does Nasometer readings work for VPI-Diagnosis?
Degree of nasal vs oral air emissions Speech nasopharyngoscopy Direct assessment of VP motion
36
What is this device?
Speech Nasopharyngoscopy
37
How can we treat VPI?
* 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
What is Treacher collins?
* 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
What are the physical characteristics seen in Treacher collins?
40
What is the genetic incidence of Treacher Collins?
Franceschetti-Zwahlen-Klein syndrome Autosomal Dominant TCOF1 gene mutation Variable expression
41
How can Treacher Collins affect hearing?
* Conductive hearing loss in 30% from: Microtia, atresia Ossicular malformation SNHL and vestibular dysfunction * Upper airway obstruction
42
What is the Pierre Robin Sequence?
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
What is Micrognathia?
Mandibular hypoplasia
44
What is Glossoptosis?
Tongue remains high and posterior in the oral cavity
45
Cleft Palate from PRS is a result from:
Results from failed closure of palate shelves
46
What can PRS cause? (5)
Airway obstruction Feeding problems Ear anomalies CHL, SNHL, mixed Can occur with other syndromes
47
What are the 5 steps audiology practice in clinic?
History (most important) Physical exam Hearing assessment Investigations/tests Appropriate treatment and referrals
48
What should we take in consideration in History during patient evaluation?
Review of perinatal maternal/fetal history Detailed Family History
49
A review of perinatal maternal/fetal history involves:
Any infections, medications,… Remember high risk register
50
A detailed family history involves:
Any family members with permanent childhood hearing loss Any syndromes that run in the family
51
What should we take into consideration during the physical exam?
Careful physical examination to look for any features that are variant from normal or syndromic/dysmorphic
52
What would be features that are variant from normal or syndromic/dysmorphic for physical exams?
Face: asymmetry, pre-auricular skin tags, head shape,… Eyes: shape of palpebral fissures, color of iris Ear: microtia, EAC Skin, extremeties
53
What are diagnosis tests we should do in Audiology?
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
What are three types of audiometry testing we could do depending on the age of the child?
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
What would a U-shape or cookie-bite could indicate from the audiogram?
hereditary hearing loss
56
What are other tests that could help for HL diagnosis?
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
What are practical workups from Bilateral moderate or worse HL?
* 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
What are practical workup from Unilateral SNHL?
- 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
What is ankyloglossia?
- Aka tongue-tie - Shortened lingual frenulum -May cause: breastfeeding difficulties, social problems, (unlikely speech problems) - Treated by frenotomy
60
What is Microglossia?
Rare Problems with chewing, speech, swallowing Usually occurs with craniofacial anomalies
61
What is Macroglossia?
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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