BEST PRACTICES Pediatric Bilateral Sensorineural Hearing Loss

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Nathan Underwood
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1 BEST PRACTICES Pediatric Bilateral Sensorineural Hearing Loss Christina L. Runge, PhD, CCC-A Associate Professor Chief, Division of Communication Sciences Director, Koss Cochlear Implant Program

2 Resources Evidence-Based Algorithm for the Evaluation of a Child with Bilateral Sensorineural Hearing Loss. Morzaria, Westerberg, Kozak. J Otolaryngol 34(5); , What Is the Optimal Workup for a Child With Bilateral Sensorineural Hearing Loss? Hart & Choo. Laryngoscope 123;809-10, 2013.

3 Traditional Evaluation History Physical exam Audiologic evaluation Laboratory investigations CBC/metabolic panel/thyroid function Serologic testing Urinalysis Imaging (CT and/or MRI) Ophthalmology consultation Genetic testing Electrocardiogram (ECG)

panel/thyroid function Serologic testing Urinalysis Imaging

4 Traditional Evaluation Expensive Resource intensive What is the diagnostic yield for these tests?

5 Necessary Workup Detailed History Prenatal, postnatal, perinatal explanations for SNHL Family history of hearing problems Physical Exam Any dysmorphic or syndromic features? Goiter? Audiologic Evaluation Age appropriate methods Assess for auditory neuropathy

Physical Exam Any dysmorphic or syndromic features? Goiter?

6 Audiologic Evaluation Age-Appropriate Testing Subjective testing BOA, VRA, CPA, conventional Objective testing OAEs, ABR/BAER, tympanometry, acoustic reflexes Assess for Auditory Neuropathy OAEs, ABR/BAER, acoustic reflexes

7 Typical Laboratory Testing Routine bloodwork CBC, electrolytes, blood urea nitrogen, creatinine, lipids, blood sugar, thyroid Serologic testing Congenital syphillis and rubella Urinalysis Alport Syndrome

lipids, blood sugar, thyroid Serologic testing

8 What is the diagnostic yield of typical laboratory testing for SNHL etiology? A. 0-2% B % C % D. >50% 0.0% 0.0% 0.0% 0.0% A. B. C. D.

9 Laboratory Testing Evidence Few blood disorders in children are associated with SNHL No literature to support routine urinalysis in diagnosis of Alport Syndrome Thin-layer chromatography and immuniophoresis are more sensitive and specific Overall Alport Syndrome incidence is 1:10,000 Indications for Thyroid Function Tests Goiter, Pendred syndrome

chromatography and immuniophoresis are more sensitive and specific Overall Alport

10 Congenital Cytomegalovirus Infection Often causes progressive SNHL 15%-20% of profound bilateral SNHL cases are associated with congenital CMV 18% of children with congenital CMV have delayed-onset SNHL May pass newborn hearing screen May appear healthy Difficult to determine whether infection is congenital when tested after 3 weeks of age

congenital CMV have delayed-onset SNHL May pass newborn hearing screen May appear

11 Do you order imaging routinely? A. Yes B. No 0% 0% A. B.

12 Imaging - CT Abnormal scans in approximately 33% of children with SNHL Most commonly large vestibular aqueduct (LVA) Help diagnose Pendred Syndrome Supported by the literature for evaluating bilateral SNHL Order: high-resolution, temporal bone, without intravenous contrast

Pendred Syndrome Supported by the literature for evaluating

13 Imaging - MRI Most useful for assessing Status of cochlear nerve Auditory pathways Brain Early stages of fibrosis in meningitis Should be initial study in ANSD Often used with CT in cochlear implant evals Emerging as initial study as technology improves Faster acquisition, reduced need for sedation

study in ANSD Often used with CT in cochlear implant evals Emerging as

14 Should ophthalmologic assessment be ordered for all children with bilateral SNHL? A. Yes B. No 0.0% 0.0% A. B.

15 Ophthalmologic Assessment 57% of children with SNHL have significant ophthalmologic findings Important for diagnosis and management Usher Syndrome, retinitis pigmentosa Strabismus, myopia Needed to maximize visual acuity

diagnosis and management Usher Syndrome, retinitis

16 You see a baby who failed her newborn hearing screen. Diagnostic ABR suggests bilateral severe-to-profound SNHL. What genetic test would you order first? A. SLC26A4 (Pendred) B. GJB6 (Cx30) C. GJB2 (Cx26) D. KCNQ4 (DFNA2) 0.0% 0.0% 0.0% 0.0% A. B. C. D.

What genetic test would you order first? A. SLC26A4 (Pendred) B.

17 Genetic Testing Severe to Profound SNHL 40-50% of children with severe-to-profound SNHL have GJB2 (Cx26) mutations 35delG is the most common GJB2 mutation in European population Carrier rate of 2-3% Refer for cochlear implant evaluation

35delG is the most common GJB2 mutation in European

18 You see an 18-month-old who has a moderate bilateral SNHL. What test would you consider ordering first? A. Imaging B. GJB2 (Cx26) C. Thyroid function 0.0% 0.0% 0.0% A. B. C.

19 First send for imaging Genetic Testing Mild to Moderate SNHL May want to follow up with test of entire GJB2 coding region Testing of entire GJB2 coding region May find etiology for mild-to-moderate SNHL Detect mutations in patients of non-european descent

Testing of entire GJB2 coding region May find etiology for

20 Genetic Testing Syndromic 5.4% of children with SNHL have a syndrome If physical findings associated with syndromic hearing loss, refer to multidisciplinary clinic and genetic evaluation

21 Electrocardiogram Performed to assess for prolonged Q-T interval Jervell-Lange-Nielsen (JLN) Syndrome High concern if positive history of syncope, arrhythmia, or family history of sudden death of young child ECG should be obtained for all children with bilateral SNHL JLN prevalence is elevated in severe-profound (0.3%)

22 Sequential Diagnostic Algorithm: Mild to Moderate SNHL History and physical examination Full audiometric evaluation including ANSD testing Imaging using CT or MRI Use results to determine further diagnostic tests Specific labs to exclude/confirm suspected diagnosis Ophthalmologic assessment ECG Genetics consultation for positive family history or suspicion of syndrome

23 Sequential Diagnostic Algorithm: Severe to Profound SNHL History and physical examination Full audiometric evaluation including ANSD tests GJB2 genotyping Ophthalmologic assessment ECG Genetics consultation for positive genetic testing, positive family history, suspicion of syndrome Refer for cochlear implant evaluation CI evaluation includes imaging

Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida

Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida 60% of childhood hearing loss is genetic Syndromic Nonsyndromic 40% of childhood hearing