Children with Hearing Loss and Syndromes 2007 Early Hearing Detection & Intervention Conference

1. Children with Hearing Loss and Syndromes2007 Early Hearing Detection & Intervention Conference Gale Rice, Ph.D., CCC-SLP and Susan Lenihan, Ph.D., CED Fontbonne University

2. Scope of Presentation • Importance of Topic • What is a Syndrome? • Role of Early Interventionists • Common Syndromes in Children with Hearing Loss • Family Support • Assessment, Prevention, Treatment • Resources

3. Role of the Early Interventionist • Family Support • Assessment • Prevention • Minimalization of associated speech, language and learning issues • Treatment • Prognosis caveat

4. Prevalence of Hearing Loss & Syndromes(Picard 2004) • 40% of children who are deaf or hard of hearing have additional “concerns” • About 1/3 of those concerns (13.6%) are attributable to syndromic causes • High number of children with hearing loss of unknown origin (over 50%) makes identification and diagnosis of any additional disability more challenging

5. Most Prevalent Syndromes/Sequences(Boys Town, 2007 and Picard, 2004) • Down • Pierre Robin • Treacher Collins • Goldenhar • Stickler • Congenital cytomegalo virus* • Usher • Branchio-oto-renal • Pendred • CHARGE association • Neurofibromatosis type II • Mitochondrial disorders • Waardenburg

6. Family Support “Over time, most parents rebuild their hopes and dreams for their child, learn to adapt to the circumstances in their lives, and remain steadfast in their concern for and commitment to their child with disabilities. The ways in which professionals understand and respect parent’s’ efforts can significantly contribute to this process.” (Gallagher et al)

7. Factors that may impact the grieving process • Age of identification • Degree and nature of the disability • Emotional state of the family prior to identification • Individual personalities • Cultural experience • Availability of resources for support

8. The Grief Process-Bader and Robbins, Rosetti, Luterman • Grieving is the transformational process by which people respond and cope with a significant loss in their life. • Having a child with a disability is a significant loss of a dream. • Grief allows an individual to create and embrace a new dream. • Grieving is appropriate, necessary and growthful. • Professionals should view grief as a process that serves a positive purpose. • Each family will experience the grief process in a unique way, but there are common struggles and states that most families will experience.

9. Stages of Grief

10. Suggestions for Professionals -Gallagher et al • Support parents’ hopes and dreams for their child. • Suspend judgment of families and their behavior. • Demonstrate sensitivity through openness, flexibility, good listening and respect for differences. • Recognize the talents of each member of the family. • Increase your knowledge about child development, family systems, risk factors for disabilities and resilience. • Serve as a connection to community resources.

11. Suggestions for Professionals • Create a space for parents’ ideas, values and perspectives. • Collaborate with colleagues to best meet the needs of the families. • Be patient. People need time to find their own personal way through unexpected events. • View this time as an opportunity to strengthen trust. • Educate other professionals and family members to rethink denial and the grief process.

12. Websites for Family Support Hemifacial microsomia: www.faces-cranio.org/Disord/Hemi.htm Stickler syndrome: www.familyvillage.wisc.edu/lib_stic.htmwww.sticklers.org/sip/ Usher syndrome: www.familyvillage.wisc.edu/lib_ushe.htm www.hearseehope.com Branchio-oto-renal syndrome: www.potterssyndrome.org/bor.html CHARGE association www.chargesyndrome.org/ Neurofibromatosis type II: www.ctf.org/ Mitrchondrial disorders: www.kathleensworld.com/mitochon.htmlwww.familyvillage.wisc.edu/lib_mito.htm Waardenburg syndrome: www.users.muohio.edu/whaleyjr/links.htm

13. References on Family Support • Bader, J. & Robbins, B., (2001). Good Grief. Denver: Hear at Home. • Batshaw, M. (2001). Whenyour child has a disability. Baltimore: Paul H. Brookes. • Early Connections for Infants, Toddlers and Families, Colorado Department of Education (1998). One of the Family. Baltimore: Paul H. Brookes. • Edwards, P.A., Pleasandts, H.M., & Franklin, S.H. (1999). A path to follow: Learning to listen to parents. Portsmouth, NH: Heinemann. • Fialka, J., & Mikus, K.C. (1999) Do you hear what I hear? Parents and professionals working together for children with special needs. Ann Arbor, MI: Proctor Publications. • Gallagher, P., Fialka, J., Rhodes, C., Arceneaux, C. (2002). Working with families: Rethinking denial. Young Exceptional Children, 5(2), 11-17. • Luterman, D., Kurtzer-White, E. & Seewald, R. (1999). The Young Deaf Child. Baltimore: York Press. • Roberts, R.N., Rule, S., & Innocenti, M.S. (1998). Strengthening the family-professional partnership in services for young children. Baltimore: Paul H. Brookes. • Rosetti, L. (2001). Communication intervention: Birth to three. Albany, NY: Singular, Delmar Publishing.

14. Expression of SyndromesAdditional Concerns • Evident & identified at birth • Identified much later – expertise of early interventionist critical • Hypernasality & nasal emission secondary to velopharyngeal insufficiency

15. Assessment of Associated Speech-Language Features • Formal Assessments • Articulation Testing • Language Testing • Informal Assessments • Articulation • Voice • Resonance • Multiple contexts • Stimulability • Oral – Motor examination • Facial grimacing

16. Reasons for Speech Features • Hearing loss • Velopharyngeal insufficiency • Decreased intra-oral pressure • Fistulae • Orthodontic issues • Compensatory articulatory patterns • Speech-Language delays

17. Goals of Prevention • To support development of age-appropriate speech, language & cognition • To prevent development of maladaptive articulation patterns • To monitor hearing

18. Prevention Strategies • Authentic communication opportunities • Empower parents as facilitators

19. Bill Martin Jr. / Eric Carle Brown Bear, Brown Bear, What Do You See?

20. Pop! goes the weasel All around the mulberry bushThe monkey chased the weasel. The monkey thought 'twas all in fun.Pop! goes the weasel. A penny for a spool of thread,A penny for a needle. That's the way the money goes.Pop! goes the weasel.

21. Speech-Language Therapy Strategies for Resonance & Articulation • Intervention to directly address suspected velopharyngeal insufficiency • Short, Frequent Bursts of Therapy • Direct Intervention for Errors of Manner and Place of Articulation

22. Purpose of Cleft Palate Craniofacial Anomalies Teams • To assess children with orofacial/craniofacial anomalies from an inter-disciplinary perspective • To plan and prioritize treatment for children with orofacial/craniofacial anomalies from an inter-disciplinary perspective

23. Referral Criteria • Known cleft or craniofacial anomaly • Hypernasality with or without bifid uvula • Nasal emission • Bifid uvula with hypernasality and/or cul de sac resonance • Nasal regurgitation of food or liquids

24. References • Carneol, S.O., Marks, S.M., & Weik, L. (1999). The speech-language pathologist: Key role in the diagnosis of velocardiofacial syndrome. American Journal of Speech-Language Pathology, 8, 23-32. • Dworkin, J.P., Marunick, M.T., & Krouse, J.H. (2004). Velopharyngeal dysfunction: Speech characteristics, variable etiologies, evaluation techniques, and differential treatments. Language, Speech, and Hearing Services in Schools, 35, 333-352. • Golding-Kushner, K.J. (2001). Therapy techniques for cleft palate speech and related disorders. Canada: Singular. • Kahn, A. (2000). Craniofacial anomalies: A beginner’s guide for speech-language pathologists. San Diego, CA: Singular. • Kummer, A.W. (2001). Cleft palate and craniofacial anomalies: Effects on speech and resonance. Canada: Singular. • Perkins, W.H., & Northern, J.L. (Eds.). (1986). Current methods of assessing and treating children with cleft palates. Seminars in Speech and Language, 7.

25. Resources for Syndromes • Peterson-Falzone, S.J., Hardin-Jones, M.A., & Karnell, M.P. (2001). Cleft palate speech. (3rd ed.). St. Louis, MO: Mosby. • Picard, M. (2004). Children with permanent hearing loss and associated disabilities: Revisiting current epidemiological data and causes of deafness. The Volta Review, 104 (4), 221-236. • Shprintzen, R.J. (2001). Syndrome Identification for Audiologists: An Illustrated Pocketguide. San Diego, CA: Singular Publishing Group. • Shprintzen, R.J. (2000). Syndrome Identification for Speech-Language Pathologists: An Illustrated Pocketguide. San Diego, CA: Singular Publishing Group. • Truax, R., & Whitesell, K. (2004). Literacy learning: Meeting the needs of children who are deaf or hard of hearing with additional special needs. The Volta Review, 104 (4), 307-326.

26. Websites on General Syndrome Information • American Speech-Language-Hearing Association: • www.asha.org • Boys Town National Research Hospital: • www.boystownhospital.org • FACES: The National Craniofacial Association: • www.faces-cranio.org • American Cleft Palate Association • www.cleftline.org • National Organization for Rare Disorders (NORD): • www.naric.com • Type in specific syndrome

27. Syndrome Specific Websites Hemifacial microsomia/Goldenhar:www.lpch.org/DiseaseHealthInfo/HealthLibrary/craniofacial/hmnfcmcrm.html Stickler syndrome: www.stickler.org.uk/info.htm, www.stickler.org.uk/professionals.htm, www.faces-cranio.org/Disord/Stickler.htm Usher syndrome: www.nidcd.nih.gov/health/hearing/usher.asp, www.deafblind.com/usher.html, www.nei.nih.gov/health/ushers/index.asp Branchio-oto-renal syndrome: www.geneclinics.org/profiles/bor/details.html, www.geneclinics.org/profiles/bor Pendred syndrome: www.geneclinics.org/profiles/pendred/ http://ghr.nlm.nih.gov/condition=pendredsyndrome

28. Syndrome Specific Websites CHARGE: www.dpo.uab.edu/~birmie/charge.htm www.chargesyndrome.org/about-charge.asp Neurofibromatosis type II: www.ctf.org/ http://ghr.nlm.nih.gov/condition=neurofibromatosistype2 www.geneclinics.org/profiles/nf2/ Mitochondrial disorders:www.neuro.wustl.edu/neuromuscular/mitosyn.html, www.kathleensworld.com/mitochon.html Waardenburg syndrome: www.nidcd.nih.gov/health/hearing/waard.asp, http://ghr.nlm.nih.gov/condition=waardenburgsyndrome

29. Gale Rice, Ph.D., CCC-SLPFontbonne UniversitySusan Lenihan, Ph.D., CEDFontbonne Universitygrice@fontbonne.eduslenihan@fontbonne.edu