Genetic Hearing Loss with Other Abnormalities ll Flashcards
What is Cleft Lip/Palate? (2)
- Usually divided into cleft lip (CL) +/- cleft palate (CP) and cleft palate (CP) alone
- CL is more devastating to caregivers but CP is more serious for child
Facial clefting is the 2nd most common congenital deformity (1st clubfoot)
What is the epidemiology distinction of CP and CL?
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)
What are the 5 important parts of the lips?
What are the muscles of the palate? (7)
Levator veli palatini raise the palate up
Tensor veli palatini Raise the palate up
(Muscularis uvulae)
(Palatopharyngeus)
(Palatoglossus)
(Superior constrictor)
(Salpingopharyngeus)
What are two important muscles that raise the palate?
Levator veli palatini raise the palate up
Tensor veli palatini Raise the palate up
What are the classifications of CL and CP ?
CL +/- CP
CP
Unilateral, bilateral
Right, left
Complete, incomplete
Primary, secondary
Where do the facial prominences come from in Embryology?
- Facial prominences
Derived from 1st pharyngeal arch
4th week onwards
What are the 3 Facial prominences?
Frontonasal prominence
Maxillary prominences
Nasal prominences (lateral and medial)
What forms after the lips?
Primary and then secondary palate
Describe the palate in embryology:
5-12 weeks
Primary palate
Forms 1st
Medial nasal prominences
Anterior to incisive foramen
4 incisors
Describe the secondary palate in embryology:
8-12 weeks
Forms after primary palate
Posterior to incisive foramen
Fusion of palatine shelves (maxillary prominences)
Fusion occurs anterior to posterior
What factors could be the cause of CL and CP?
- Multifactorial
Genetic (Msx1, TGF-B) or syndromic
Environmental
Teratogens (EtOH, tobacco, phenytoin, retinoic acid)
More than 200 syndromes are associated with CL/P, provide 5:
Apert
Stickler
Treacher Collins
Waardenberg
Pierre Robin sequence
CL and CP are conditions also known as:
Hare lip
What are the associated problems of CLP?
-Cosmetic, emotional/social, facial growth, dental, speech, swallowing/feeding, hearing
CP-no separation between nose and mouth
How can CL and CP affect speech? (4)
CL-unable to fully close lips (sometimes even after repair)
CP-abnormal palatal movement
Errors in articulation (fricatives, plosives)
Velopharyngeal incompetence (VPI)
What is Velopharyngeal incompetence (VPI) examples from CP and CL? (2)
Hypernasal speech
Nasal regurgitation
What problems do babies have from mainly CP?
- CP kids have limited ability to suck (no seal)
Pigeon bottles)
Frequent burps
Positioning
CL only usually ok
Which objects could help babies with CP during feeding? (2)
Obturators (for breastfeeding)
CP feeders (Mead-Johnson, Haberman, Pigeon bottles)
How can CL and CP affect hearing? (2)
CL-OM incidence similar to normal population
CP-most have eustachian tube dysfunction (ETD), OME and CHL
ETD from CP is due to:
Abnormal insertion of levator veli palatini and tensor veli palatini muscles into the posterior hard palate
ETD in CP patients can also lead to:
late-onset cholesteatoma
Because of ETD
_____% CP kids require ________________ and
up to ____% require 2nd set
> 90% CP kids require ear tubes
Up to 50% require 2nd set
ETD may improve after cleft palate repair
When is Velopharyngeal Insufficiency (VPI) seen? (3)
Frequently seen after CP repair
Infrequently in children without CP
Also commonly seen in submucous cleft palate
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
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
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
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
How does velocardiofacial disorder affect hearing?
- Long, tapered fingers
- Hypotonia
- CP (CL)
Submucous CP
VPI
OME/CHL - Airway
Anterior glottic web
What can velocardiofacial cause?
Sporadic mutations
Developmental delay
Congenital heart disease
Thymic aplasia
Hypoparathyroidism
hypocalcemia
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
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
What is a test for VPI diagnosis?
- Nasometer readings
- Videofluoroscopy
How does Nasometer readings work for VPI-Diagnosis?
Degree of nasal vs oral air emissions
Speech nasopharyngoscopy
Direct assessment of VP motion
How does Nasometer readings work for VPI-Diagnosis?
Degree of nasal vs oral air emissions
Speech nasopharyngoscopy
Direct assessment of VP motion
What is this device?
Speech Nasopharyngoscopy
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
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
What are the physical characteristics seen in Treacher collins?
What is the genetic incidence of Treacher Collins?
Franceschetti-Zwahlen-Klein syndrome
Autosomal Dominant
TCOF1 gene mutation
Variable expression
How can Treacher Collins affect hearing?
- Conductive hearing loss in 30% from:
Microtia, atresia
Ossicular malformation
SNHL and vestibular dysfunction - Upper airway obstruction
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%)
What is Micrognathia?
Mandibular hypoplasia
What is Glossoptosis?
Tongue remains high and posterior in the oral cavity
Cleft Palate from PRS is a result from:
Results from failed closure of palate shelves
What can PRS cause? (5)
Airway obstruction
Feeding problems
Ear anomalies
CHL, SNHL, mixed
Can occur with other syndromes
What are the 5 steps audiology practice in clinic?
History (most important)
Physical exam
Hearing assessment
Investigations/tests
Appropriate treatment and referrals
What should we take in consideration in History during patient evaluation?
Review of perinatal maternal/fetal history
Detailed Family History
A review of perinatal maternal/fetal history involves:
Any infections, medications,…
Remember high risk register
A detailed family history involves:
Any family members with permanent childhood hearing loss
Any syndromes that run in the family
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
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
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
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
What would a U-shape or cookie-bite could indicate from the audiogram?
hereditary hearing loss
What are other tests that could help for HL diagnosis?
- Imaging of the ear (temporal bone, CNS)
CT, MRI - Genetic testing
- Testing for infections
- Lab testing (urinalysis, TSH,…)
- Ophthalmology consultation
- Genetics consultation/counseling
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
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
What is ankyloglossia?
- Aka tongue-tie
- Shortened lingual frenulum
-May cause: breastfeeding difficulties, social problems, (unlikely speech problems) - Treated by frenotomy
What is Microglossia?
Rare
Problems with chewing, speech, swallowing
Usually occurs with craniofacial anomalies
What is Macroglossia?
Can occur in Trisomy 21, Hunter’s, Hurler’s Beckwith-Wiedman syndromes
Airway obstruction
Feeding problems
