1. Risk Factors for Late Onset Hearing Loss
Betty Vohr MD
AAP Representative to JCIH

2. 2017 Universal Screening in US > 99% of Infants in the US have their hearing screened Newborn screening identifies ~ 50% of HL Follow-up Rate for Pass with Risk Factors ?

3. Joint Committee on Infant Hearing Progress and Change Challenge of Risk Factors for Hearing Loss

4. Objectives Review risk factors for neonatal HL
Review risk factors associated with late onset HL & the recommended follow-up protocol
Describe ways to integrate risk factor conversation and tracking into practice

5. Why do we have late onset HL ?
Recommendations for follow-up are based on the fact that standard NB screening does not identify all children who are deaf or hard of hearing because of missed mild or neural hearing loss, progressive hearing thresholds, and delayed- onset changes in hearing status The prevalence of children confirmed as deaf or hard of hearing neonates is 1.79/1000 school age is 3.65/1000

6. Range of Hearing Normal 15-25 dB
Minimal dB difficulty with soft sounds and noise
Mild HL dB difficulty (soft speech & noise)
Mod HL dB difficulty (conversational speech)
Sev HL dB hear only loud speech or sounds
Prof HL > 85 dB no usable hearing

8. 1 3
4-5

9. Risk Factor Changes
The prior eleven risk factors listed in JCIH 2017 are now listed as 12 separate factors and divided into subgroups of
predominantly “perinatal” (risk factors 1-9) and
“either perinatal or postnatal” (risk factors 10-12).
In addition, recommendations for follow-up and monitoring have been modified

10. Perinatal Risk Factors
Dx FU
Monitoring
1. Family Hx* early/progressive/delayed PHL
< 9 m
Etiology or family concern
2. NICU care of > 5 days
As per concerns of on-going surveillance of S/H skills
3. Hyperbilirubinemia with Ex. regardless LoS
4. Aminoglycoside administration for > 5 days
5. Asphyxia or HIE
6.ECMO*
< 3m
Every 12m to school or shorter based on concerns

11. Perinatal Risk Factors
Dx FU
Monitoring
7. In utero infections,* such as herpes, rubella, syphilis, and toxoplasmosis
< 9m
As per concerns of on-going surveillance
In utero infection* with CMV* & clinical findings
< 3m
Q 6m to age 3;annual to 6y or ↑based on concern
Mother+ Zika & infant - Zika lab & - Cl
Standard
As per AAP Periodicity schedule or concerns
Mother+ Zika & infant + Zika lab & + Cl
Mother+ Zika & infant + Zika lab & - Cl
ABR< 1m
ABR by 4-6m; Monitor as per AAP Periodicity/concerns
ABR by 4-6m or VRA by 9; Monitor as per AAP Periodicity/concerns

12. Perinatal Risk Factors
Dx FU
Monitoring
8.Certain birth conditions or findings:
Craniofacial malformations including microtia/atresia, ear dysplasia, oral facial clefting, white forelock, micro-ophthalmia
Congenital microcephaly, congenital or acquired hydrocephalus
Temporal bone abnormalities
<9m
As per concerns of on-going surveillance of hearing skills and speech milestones
9. Over 400 syndromes and neurodegenerative disorders* have been identified assoc with HL. Visit :
According to natural history of syndrome or concerns

13. Perinatal Risk Factors
Dx FU
Monitoring
9. Over 400 syndromes and neurodegenerative disorders* have been identified assoc with HL. Visit :
<9m
According to natural history of syndrome or concerns
Down Syndrome- CHL or SNHL> 40%
Neurofibromatosis- progressive SNHL, café au lait spots
Usher I, II, III, varying SNHL, lose vision
Wardenburg- SNHL,forelock, heterchromia
Alport- assoc with renal problems
Pendred- Mondini malformation± EVA
Jervele & Lange Nielson; Profound SNHL, long QT, risk of sudden death

14. Perinatal or Postnatal Risk FactorsFU
Monitoring
10.Culture + infections associated with SNHL, including confirmed bacterial and viral (especially herpes viruses and varicella) meningitis / encephalitis
< 3m of occurrence
Every 12 m to school age or shorter based on parent provider concerns
11.Events associated with HL:
Significant head trauma* especially basal skull/temporal bone fractures
Chemotherapy*
According to findings and or continued concerns
Caregiver concern* + regarding hearing, speech, language, developmental delay and or developmental regression
Immediate

15. First visit with parents: Time to start discussing language, HL and risk factors
In maternity Hospital or practice office
Have copy of discharge summary and hearing screen, risk results & risk factors for HL; discuss with family, query again re: risk factors
Enter all into EMR with prompts for all follow-up needed

16. Complete Medical Assessment
Timely medical assessment for all infants with suspected/confirmed mild, mod, severe, or profound levels completed no later than 3 m after diagnosis! Should be ASAP
Review detailed screening, dx, medical and family history
Comprehensive physical exam including middle ear, external changes, radiographic and lab studies consistent with best practices (AAP 2010)

17. Complete Medical Assessment
Refer: EI, ENT, Genetics, Ophthalmology minimum for infants who are confirmed as deaf/hard of hearing
Ophthalmology regularly
Additional providers as indicated clinically
Assess family needs and refer for support services as needed (counseling, social work, etc.)
Goal to provide optimal family centered care.

18. Script: Passed Newborn Screen; No Known Risk Factor
First visit: Congratulations on the birth of your baby. The hearing screen was a pass. It is, however, important to monitor his/her speech and language development because hearing can change. Here is a brochure on speech and language development. We will review your infants development during your well child visits. Please let us know at any time if you have concerns. We can make a referral for further testing if needed.

19. Script: Passed Newborn Screen; Known Risk Factor
First visit:
Congratulations on the birth of your baby. The hearing screen done in the hospital was a pass.
We have, however, identified that your baby has a risk factor for hearing loss. (> 5 days in NICU, VLBW, etc.) This means that your baby may be at ↑ risk of developing a hearing loss.
A follow-up hearing test is recommended in N months. We will continue to monitor your baby’s development. Please let us know at any time if you have concerns about your baby’s development. Here is a brochure about speech and language development. We can make a referral for further testing if needed.

20. Physical Exam Growth Parameters
Microcephaly and/or short stature may suggest a congenital infection (e.g., CMV, rubella) or underlying genetic disorder. Tall, thin body habitus is associated with Marfan or Stickler syndrome.
Skin
Pigmentary abnormalities of skin and/or hair may signify a genetic syndrome associated with hearing impairment (cafe au lait macules in neurofibromatosis type 1, hypopigmented patches and/or white forelock in Waardenburg syndrome).

21. Physical Exam
HEENT
Assess for anatomic craniofacial abnormalities such as submucous cleft palate, pre-auricular tags/pits, auricular malformations.
Pneumatic otoscopy should be performed to assess tympanic membrane mobility and middle ear pressure.
Examine the neck (for masses), sinuses, and pits.

22. Physical Exam cont. Extremities/Musculoskeletal
Musculoskeletal malformations may suggest a genetic syndrome associated with hearing impairment (e.g., cubitus valgus in Turner syndrome, fused digits in Apert syndrome).
Neurologic Exam
Abnormalities in tone or sensation may indicate an underlying neurologic disorder.

23. Genetic Testing/ consultation
Routine blood testing of children with sensorineural hearing loss is of little diagnostic value and is not, consider obtaining a culture of saliva or urine for cytomegalovirus. Congenital progression therapy are evolving. CMV testing should be obtained prior to 3 weeks of age as those performed later cannot differentiate between congenital and postnatal infection. Postnatal infection is not associated with hearing loss. For more information, see CMV and Congenital Hearing Loss (UDOH) (           648 KB) and Congenital Cytomegalovirus (CMV)-Related Hearing Loss. In older children, particularly those with a family history of renal failure, consider a urinalysis to assess for hematuria and proteinuria suggestive of Alport syndrome.
Routine blood testing of children with sensorineural hearing loss is of little diagnostic value and is not recommended. [sensorineural hearing loss detected in the newborn period, consider obtaining a culture of saliva or urine for cytomegalovirus. Congenital CMV is a common cause of SNHL and antiviral treatment with valganciclovir may prevent progression of hearing impairment. The risks and benefits of antiviral therapy are evolving. CMV testing should be obtained prior to 3 weeks of age as those performed later cannot differentiate between congenital and postnatal infection. Postnatal infection is not associated with hearing loss. For more information, see CMV and Congenital Hearing Loss (UDOH) (           648 KB) and Congenital Cytomegalovirus (CMV)-Related Hearing Loss. In older children, particularly those with a family history of renal failure, consider a urinalysis to assess for hematuria and proteinuria suggestive of Alport syndrome.
Routine blood testing of children with sensorineural hearing loss is of little diagnostic value and is not recommended. [Mafong: 2002] For sensorineural hearing loss detected in the newborn period, consider obtaining a culture of saliva or urine for cytomegalovirus. Congenital CMV is a common cause of SNHL and antiviral treatment with valganciclovir may prevent progression of hearing impairment. The risks and benefits of antiviral therapy are evolving. CMV testing should be obtained prior to 3 weeks of age as those performed later cannot differentiate between congenital and postnatal infection. Postnatal infection is not associated with hearing loss. For more information, see CMV and Congenital Hearing Loss (UDOH) (           648 KB) and Congenital Cytomegalovirus (CMV)-Related Hearing Loss. In older children, particularly those with a family history of renal failure, consider a urinalysis to assess for hematuria and proteinuria suggestive of Alport syndrome.
Genetic Testing/ consultation
Genetic testing should be considered in all children without a known etiology for their HL.
Patients requiring genetic testing should be referred to a geneticist, genetic counselor, or interdisciplinary hearing assessment clinic, if available.
Genetic testing for commonly involved genes implicated HL is available and the cost is covered by insurance.
Connexin-26 mutations are the most common
Genetic testing will often predict which children need to be followed closely for retinal, renal, cardiac, etc. problems.

24. Causes of Permanent Hearing Loss in 100 Infants
40% Environmental 40
60% Genetic 60
30% syndromes (>400) 40
30% >75 genes ident 20
½ are GJB2 – Connexin 26

25. Genetic Causes Single gene Connexin 26
Gene + environment Mitochondrial + ototoxic
Gene + gene Gene + other gene

26. Genetic Causes of Hearing Loss: Contribution of Cx26
Syndromic ~30%
Nonsyndromic ~70%
Mt <1%
Dominant 20%
X-linked ~1%
Recessive 80%
50% of DFNB - mutations of GJB2 or Connexin 26
~15% of congenital hearing loss – Cx26 mutations

27. More than 400 Syndromes associated with HL
Characteristicss
Dominant – most common
Waardenburgs
SNHL
White forelock, premature graying hair, fused eyebrows, heterochromia irides ( two different-colored eyes ( blue and brown), widely-spaced eyes (hypertelorism), high nasal bridge, under-developed nose,partial albinism
Dominant- 2nd most common
Branchio-oto-renal
C or SNHL or mixed
Branchial cleft cysts, preauricular pits, ear malformations, renal abnormalities
Recessive- most common
Usher- 3 SNHL types
I profound & VD
II- downward sloping
III- Progressive & VD
All associated with Retinitis pigmentosa leading to blindness
Recessive- 2nd most common
Pendred
SHNL or mixed HL; may be progressive
May have euthyroid goiter develops in puberty; variable inner ear malformations (Mondini malformation with or without enlarged vestibular aqueduct). Abn. Vestibular function
Recessive- 3rd most common
Jervell and Lange Nielsen
Prolonged QT syndrome- history of SIDS or sudden death

28. Routine blood testing of children with sensorineural hearing loss is of little diagnostic value and is not recommended. [Mafong: 2002] For sensorineural hearing loss detected in the newborn period, consider obtaining a culture of saliva or urine for cytomegalovirus. Congenital CMV is a common cause of SNHL and antiviral treatment with valganciclovir may prevent progression of hearing impairment. The risks and benefits of antiviral therapy are evolving. CMV testing should be obtained prior to 3 weeks of age as those performed later cannot differentiate between congenital and postnatal infection. Postnatal infection is not associated with hearing loss. For more information, see CMV and Congenital Hearing Loss (UDOH) (           648 KB) and Congenital Cytomegalovirus (CMV)-Related Hearing Loss. In older children, particularly those with a family history of renal failure, consider a urinalysis to assess for hematuria and proteinuria suggestive of Alport syndrome.
Routine blood testing of children with sensorineural hearing loss is of little diagnostic value and is not recommended. [Mafong: 2002] For sensorineural hearing loss detected in the newborn period, consider obtaining a culture of saliva or urine for cytomegalovirus. Congenital CMV is a common cause of SNHL and antiviral treatment with valganciclovir may prevent progression of hearing impairment. The risks and benefits of antiviral therapy are evolving. CMV testing should be obtained prior to 3 weeks of age as those performed later cannot differentiate between congenital and postnatal infection. Postnatal infection is not associated with hearing loss. For more information, see CMV and Congenital Hearing Loss (UDOH) (           648 KB) and Congenital Cytomegalovirus (CMV)-Related Hearing Loss. In older children, particularly those with a family history of renal failure, consider a urinalysis to assess for hematuria and proteinuria suggestive of Alport syndrome.
Laboratory testing
Dx in first 2 weeks- culture of saliva or urine for CMV
In older children with hx of renal disease ; urinalysis for hematuria and proteinuria suggestive of Alport Syndrome

29. Other Testing
Electrocardiography is indicated if there is a family history of prolonged QT interval or sudden death, or if medical history is significant for syncope, arrhythmia, or history of ALTE.
An ECG should also be considered in all infants with severe-profound sensorineural hearing loss of unknown etiology.

30. Referral to Pediatric Otolarygology
Performs a comprehensive evaluation of the head and neck and can help in the identification of craniofacial malformations associated with hearing loss.
Should work closely with the audiology team (including Early Intervention specialist) to determine intervention planning for hearing loss.
Performs surgical intervention if necessary (e.g., tympanostomy tubes, reconstruction, cochlear implant, bone-anchored hearing aids).

31. Pediatric Ophthalmology
Every child with confirmed permanent HL should undergo annual evaluation by an ophthalmologist to determine visual acuity and evaluate for concomitant vision disorders (e.g., Usher Syndrome, cataracts ).

32. Summarizes the Medical Work-up
Physical exam
Skin dysplasia, or atresia, craniofacial abnormalities, skeletal abnormalities
Dysmorphism
MEE
Family History of HL onset <30 years
History of care in NICU for > 5 days
Urine Culture for CMV- most common infectious cause
CT of inner ear to r/o anatomic abnormalities
Genetic studies to r/o Connexin 26 and 30/other
EKG for severe/profound to r/o long QT Syndrome
Consults with otolaryngology, genetics, and ophthalmology

33. New Protocol in WBN
Well-babies screened and not passed by AABR may be rescreened and passed by OAE; The WBN rate of AN < 1%.
Although there is a possibility of missing AN, there is an unacceptable high “loss-to-follow-up” rate for infants who do not pass the birth screen and fail to return for rescreening.
The revised recommendation is that WBN screen and second in-hospital screen may use either OAE or AABR.
However, the recommendation to rescreen using only AABR for the infant who does not pass initial AABR continues to be the Committee’s preferred protocol

34. Frequently Asked Questions by parents

35. EHDI A reconsideration for 1-3-6 m screening completed by 1 m,
audiologic diagnosis by m,
enrollment in Early Intervention by 6 m
be updated to the recommendation of m
Earliest age of identification is encouraged to provide audiologic testing in natural sleep and to facilitate early access to language

36. Surveillance in the Medical Home
All infants should have regular surveillance by their PCP consistent with the pediatric periodicity schedule of:
auditory skills
developmental milestones
parent concerns regarding hearing or language
middle ear effusion

37. Outpatient Rescreening
Rescreening should comprise a single rescreen of both ears in the same session, regardless of initial screening results
There is an obligation to report outcomes of all rescreen results whether passed or not passed, to the state EHDI
The JCIH supports the AAP published guidelines for rescreening in the Medical Home ( AAP, 2014)

38. Equipment
Ensure initial equipment calibration is performed by a manufacturer or distributor in a manner consistent with purported screening parameters
Oversight to ensure equipment parameters remain appropriate.
Requirements for troubleshooting, annual calibration, and expected performance should be reviewed by the audiologist. .

39. Rescreening in the Medical Home
Rescreen must be performed using an automated physiologic device (OAE or AABR) - Not behavioral (whisper, rattle, other noises)
Equipment must be calibrated initially and annually by manufacturer or hospital engineering dept.
Must have quiet environment & appropriately trained personnel
Always rescreen both ears
Report outcomes of all rescreen results whether passed or not passed, to the state EHDI

40. Rescreening in the Medical Home
Exception to Medical Home Rescreening:
NICU infants who do not pass hospital screen should always be referred directly to audiology

41. Surveilance/Screening in the Medical Home
All infants should have an objective standardized screen of global development with a validated tool at 9, 18, and months of age. ( i.e. Ages and Stages)
Children who do not pass a medical home global screen or if there is concern regarding hearing or language should be referred for speech-language evaluation and audiology assessment.

42. Clinical signs of possible hearing loss
Irritability, inattention, behavior problems
Delayed speech and language skills
Unintelligible speech
Child only responds when signal is loud or when in a quiet room
Uncharacteristic voice pattern- low and unmodulated
Child turns TV on very loud

44. KIDSNET Pediatricians Early Intervention Audiologists RI Hearing
Vital Records and Newborn Developmental Risk Assessment
Newborn Blood Spot
KIDSNET
Home Visiting
Lead Prevention
Pediatricians
Audiologists
Early Intervention
Rhode Island Department of Health
RI Hearing
Assessment Program
WIC:
Special Supplemental Nutrition Program for Women, Infants and Children
Birth Defects
Immunizations
Head Start
School Nurses

45. Resources for the Medical Home
Great for parents
Hands and Voices
Boystown National Research Hospital research and videos
American sign language

46. For Infants and young Children there should always be Urgency for Diagnosis and Intervention for HL to ensure the best outcome

47. Thank You
Questions ?