PURPOSE OF THIS PRESENTATION GUIDELINES DEVELOPMENT CONFERENCE GUIDELINES DEVELOPMENT CONFERENCE: FACULTY GUIDELINES DEVELOPMENT CONFERENCE: OUTCOMES

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1 PURPOSE OF THIS PRESENTATION GUIDELINES DEVELOPMENT CONFERENCE: COMO ITALY 2008 Deborah Hayes, Ph.D. Co-Chair Bill Daniels Center for Children s Hearing The Children s Hospital - Colorado Explain the concept and logistics of the guidelines development conference, Describe the outcomes of the conference, Explain the resulting guidelines for identification and management of youngsters with this disorder, and Discuss the concept of recovery from ANSD. GUIDELINES DEVELOPMENT CONFERENCE GUIDELINES DEVELOPMENT CONFERENCE: FACULTY Sponsored by the Bill Daniels Center for Children s Hearing, The Children s Hospital - Colorado Developed as a conference within a conference and held in conjunction with NHS2008: Infant and Childhood Hearing in Science and Clinical Practice, Como Italy Included scientific presentations and panel discussion by nine internationally - renowned clinicians, hearing scientists, and physicians Yvonne Sininger, PhD, ~ UCLA, USA Conference Co-Chair Arnold Starr, MD, ~ UC-Irvine, USA Christine Petit, MD, Ph.D. ~ Pasteur Institute, France Gary Rance, PhD ~ U of Melbourne, Australia Barbara Cone, PhD ~ U of Arizona, USA Patricia Roush, AuD ~ U of N Carolina, USA Jon Shallop, PhD ~ Mayo Clinic, USA Kai Uus, MD, PhD ~ U of Manchester, UK Charles Berlin, PhD ~ U of S Florida, USA Deborah Hayes, PhD ~ Bill Daniels Center for Children s Hearing USA, Moderator & Conference Co-Chair PURPOSE OF THE GUIDELINES DEVELOPMENT CONFERENCE Not intended to replace any existing guideline for identification and/or management of young children with hearing loss 2007 Joint Committee on Infant Hearing Professional organizations pediatric audiological assessment and amplification management protocols; communication ~ language and speech development Intended to supplement existing guidelines and to address specific needs of children with this unique diagnosis GUIDELINES DEVELOPMENT CONFERENCE: OUTCOMES Monograph with guidelines and scientific papers submitted by conference faculty, Guidelines address: Terminology Diagnostic criteria Comprehensive assessments Audiological test battery Amplification strategies Special consideration for cochlear implantation Habilitation for communication development Screening newborns; monitoring infants with transient ANSD Parent support 1

2 WHAT 2 ½ DAYS AT LAKE COMO TAUGHT US! 1. Every child with this disorder is unique. 2. Our standard protocols for screening, diagnosis, and early intervention must be modified to meet the special needs of these infants and young children. 3. Uncertainty about any given infant s developmental trajectory delays treatment decisions and complicates parent counseling and support. 4. Best care is provided when a well-informed team of professionals work collaboratively. 5. See # 1 above. TERMINOLOGY Many terms were proposed, including: Auditory neuropathy/auditory dys-synchrony ~ Berlin, Hood, et al Auditory neuropathy Type I (pre-synaptic); Auditory neuropathy Type II (post-synaptic), Auditory synaptic disorder; Auditory nerve disorder ~ Starr Starr s disorder ~ Uus Abnormal auditory function characterized by normal cochlear outer hair cell function and abnormal auditory nerve conduction ~ Hayes Auditory neuropathy spectrum disorder ~ Gravel RATIONALE FOR AUDITORY NEUROPATHY SPECTRUM DISORDER 1. Retain auditory neuropathy which is widely used in professional and lay communities 2. Recognize the wide range of etiologies, signs and symptoms, presentations, and developmental effects of this disorder 3. Acknowledge the wide range of treatment options including parent support, watchful waiting, intervention for communication development, hearing aids, and cochlear implantation AUDITORY NEUROPATHY SPECTRUM DISORDER: ETIOLOGIES GENETIC CONGENITAL Otoferlin (OTOF) Pejvakin VIII n dysplasia HSMN PERINATAL Charcot- Marie-Tooth Hyperbilirubinemia Friedrich s Hypoxia ataxia Extremely low birth weight Rocky neonatal course ENVIRONMENTAL Infectious Traumatic UNKNOWN AUDITORY NEUROPATHY SPECTRUM DISORDER: PRESENTATION & DEVELOPMENTAL EFFECTS AUDITORY NEUROPATHY SPECTRUM DISORDER: TREATMENT OPTIONS Normal sensitivity Normal speech perception in quiet Mild speech perception difficulty in noise No developmental consequences Fluctuating hearing thresholds Poor speech perception, especially in noise Delayed language and speech development Profound deafness No speech perception Significant language and speech delay Communication development support Cued speech Lip-reading and natural gesture Auditory verbal therapy No direct intervention; watchful waiting Amplification Communication development support Sign language Cued speech Lip-reading and natural gesture Auditory-verbal therapy Cochlear implant Communication development support with or without visual input Cued speech Lip-reading and natural gesture Auditory-verbal therapy Transient ANSD or recovery from ANSD; developmental effects unknown 2

3 DIAGNOSTIC CRITERIA Minimum test battery includes: Tests of cochlear (sensory) function Otoacoustic emissions (OAEs) Cochlear microphonics (CM) ~ obtained with from auditory brainstem response (ABR) using specific recording techniques. Test of auditory nerve function: ABR Additional useful tests: Middle ear muscle reflexes (acoustic reflexes) Suppression of OAEs by contralateral noise SPECIAL CONSIDERATIONS IN INFANTS Recording conditions must be optimum to obtain valid, artifact-free, unambiguous test results Infants must be soundly sleeping in either natural or sedated sleep to avoid movement artifact or noisy recordings. Use caution in interpreting test results in infants less than 36 weeks gestation age. Repeated measures, over several weeks or months, are recommended to determine reliability of test results ~ transient ANSD has been reported in some newborns. NORMAL INFANT ABR ABR INTERPRETED AS RESPONSE AT 40 db nhl IN LEFT EAR Normal ABR from a 18-month old infant; wave I delayed by 0.20 msec; wave I-V interwave intervals WNL; response to 20 dbnhl ABR INTERPRETED AS NORMAL ABR INTERPRETED AS CONSISTENT WITH HEARING LOSS TB: ABR obtained from another facility at age 12 months; mother concerned about hearing, language delay TB: 14-months; mother stated I always knew he couldn t hear RE 60 db 30 db LE 60 db 30 db RE 85 db 80 db LE 85 db 80 db BC 30 db 3

4 ABR ABNORMALITIES IN ANSD CM only; no neural response evident Wave I only; no neural components beyond this response (generated at the spiral ganglion) Wave V present at elevated levels in individuals with normal threshold sensitivity CM ONLY; NO NEURAL RESPONSE AF: Newborn with severe hyperbilirubinemia WAVE I ONLY; NO OTHER NEURAL RESPONSE GB: Newborn with Arnold Chiari malformation RE CM WITH NEURAL RESPONSE ELEVATED RELATIVE TO THRESHOLD CT: 9 months old; behavioral thresholds WNL 60 db 40 db 30 db RECORDING CM FROM ABR RECORDING PARAMETERS FOR CM VS. ABR Use insert earphones, stimulus artifact precludes effective recording of CMs when circumaural earphones are used, Obtain separate recordings to high-intensity (e.g., db nhl) condensation vs. rarefaction click stimuli, and Leaving all other conditions the same (e.g., eartip/tube in ear, transducer in place), disconnect tube from transducer or pinch tube to prevent sound delivery to ear, and record ABR in this condition: If the response is stimulus artifact, the response will be present in this tracing. If the response is a true CM, there will be no response in this tracing. PARAMETER RECORDING CM RECORDING ABR Stimulus intensity db nhl 80 db nhl to threshold Stimulus rate 31.1/sec * /sec Stimulus polarity Electrode montage Separate recordings of + & - polarity Earcanal or lobe to mastoid Either separate recordings or alternating polarity Earcanal or lobe to vertex *Slower rates improve neural response 4

5 RECOMMENDED COMPREHENSIVE ASSESSMENTS Those recommended by the JCIH (2007) to include: Pediatric and developmental evaluation Otologic evaluation with imaging of the cochlea (CT) and auditory nerve (MRI) Medical genetics evaluation Ophthalmologic evaluation Neurological evaluation Communication assessment RECOMMENDED AUDIOLOGICAL TEST BATTERY Developmentally appropriate behavioral and physiological measures to assess functional hearing and auditory development in infants and toddlers Measures of: Middle ear function Behavioral response to pure-tones Speech reception and speech recognition When developmentally appropriate, testing speech in noise is important Recorded speech materials should be used as soon as developmentally appropriate PREDICTING SENSITIVITY FROM ELECTROPHYSIOLOGICAL MEASURES Cannot predict hearing sensitivity from auditory evoked potentials dependent on synchronous neural discharge ABR ASSR Tone bursts Cortical evoked potentials may yield some information, but these develop over the first months/years of life; requires an alert subject AUDITORY HABILITATION: HEARING AIDS Conflicting data were presented regarding the value of amplification for individuals with ANSD. Berlin (2008) reports only 5/76 subjects who found good success with hearing aid use. Rance and Barker (2008) found good hearing aid performance in 10 children fitted with amplification at an early age. AUDITORY HABILITATION: COCHLEAR IMPLANTS In addition to standard cochlear implant criteria (FDA Recommendations), the panel concurred that: Cochlear implantation should not proceed until transient ANSD has been ruled out, Evidence of auditory nerve sufficiency must be obtained before implantation, Children with ANSD who do not demonstrate good progress in language and speech development may be candidates for cochlear implantation, regardless of the pure-tone audiogram. RECOMMENDATIONS FOR COMMUNICATION DEVELOPMENT Auditory capacity or speech, language, and communication development for infants with this diagnosis cannot be predicted from initial test results or in the earliest months of life. Families should receive information on all communication options presented in an unbiased manner. For most children with ANSD, use of any combination of communication systems that incorporate visual support is appropriate (e.g., auditory/aural with lip-reading and natural gesture, cued speech, total communication, sign language). 5

6 HEARING SCREENING FOR NEWBORNS/YOUNG CHILDREN In concert with JCIH (2007) recommendations, infants who receive NICU care should be screened by ABR Infants who receive care in a well-baby nursery Should not be re-screened by OAEs if they fail screening by ABR/AABR Infants with a family history of childhood hearing loss or sensory motor neuropathy should be screened by ABR/AABR For children with auditory or communication development concern, screening by OAEs in not sufficient, referral to an audiologist for audiological assessment is recommended. TRANSIENT ANSD Transient ANSD or recovery of the ABR has been reported in some infants with this diagnosis ( clear and reproducible waveform at 40 dbnhl bilaterally Psarommatis et al, 2006). Developmental consequences of transient ANSD is unknown, therefore: Monitoring auditory, speech and language as well as global development (motor, cognitive, and social function) is critical. Infants with developmental delay should be referred for audiological and developmental assessment, including speech and language evaluation. AF: A CASE OF TRANSIENT ANSD? AF: ABR AT 2 WEEKS Term birth; normal pregnancy and delivery; passed newborn hearing screening at birth hospital; Severe hyperbilirubinemia on day 6 of life ~ admitted to NICU through the ER, received two double-volume exchange transfusions; NICU care for 2-weeks; During hospitalization, evidence of bilirubin encephalopathy including seizures and MRI abnormalities. AF: ABR AT 2 MONTHS AF: OAEs AT 2 MONTHS 6

7 AF: ABR AT 4 MONTHS AF: OAEs AT 4 MONTHS AF: BEHAVIORAL RESULTS AT AGE 17 MONTHS Right ear insert phones AF: DEVELOPMENTAL MILESTONES AT 2-8 Speech and language within normal limits per Child Find screening; Parents report happy with her overall development, normal response to sound; No auditory or speech-language intervention; however, Behavioral testing has been unsuccessful in replicating the audiogram obtained at 17 months. At subsequent behavioral follow-ups were unsuccessful in generating valid pure-tone results. HAS AF RECOVERED FROM ANSD? AF: ABR AT 2-9 Speech understanding in difficult listening conditions not testable. Range of normal speech and language development at age 2-8 is large; Is AF functioning i at her potential or just WNL? AF is difficult to test on behavioral audiometry; Is this characteristic of children with normal auditory function? How will she do once the listening and learning task becomes more complex? She should be monitored for auditory and speech and language development well into elementary school years! 7

8 AF: OAEs AT 2-9 SUPPORTING FAMILIES Uncertainty about the infant s developmental trajectory and the optimum treatment method leads to anxiety in both professionals and parents. Many infants with this diagnosis i have had difficult and complicated neonatal course; the significance of this diagnosis may be difficult for families to appreciate. Now, more than ever, families need strong support from teams of professionals committed to caring for these babies in the context of the families needs and priorities. PROTOCOL DEVELOPMENT Bill Daniels Center for Children s Hearing developed three protocols for various presentations of ANSD Protocol for infants who show age-appropriate auditory responses Protocol for infants who show no response to auditory stimuli Protocol for infants who show variable response to auditory stimuli Protocols help professionals and families chart a course of action and reduce anxiety associated with this disorder 8