Children with Hearing Loss and Syndromes 2007 Early Hearing Detection & Intervention Conference Gale Rice, Ph.D., CCC-SLP and Susan Lenihan, Ph.D., CED.

Children with Hearing Loss and Syndromes

2007 Early Hearing Detection & Intervention Conference

Gale Rice, Ph.D., CCC-SLP and Susan Lenihan, Ph.D., CED

Fontbonne University

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

Role of the Early Interventionist

Family Support Assessment Prevention

•Minimalization of associated speech, language and learning issues

Treatment•Prognosis caveat

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

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

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)

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

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.

Stages of Grief

Stages Professional’s Role

Denial Assist the parent in identifying inner strengths and external resources

Anxiety Guide parents to information and resources

Guilt Provide information on etiology and prognosis

Depression

Empower parents to build personal competence Refer when needed

Anger Recognize source of anger

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.

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.

Websites for Family SupportHemifacial microsomia: www.faces-cranio.org/Disord/Hemi.htm

Stickler syndrome: www.familyvillage.wisc.edu/lib_stic.htm www.sticklers.org/sip/

Usher syndrome: www.familyvillage.wisc.edu/lib_ushe.htmwww.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.html www.familyvillage.wisc.edu/lib_mito.htm

Waardenburg syndrome: www.users.muohio.edu/whaleyjr/links.htm

References on Family Support Bader, J. & Robbins, B., (2001). Good Grief. Denver: Hear at Home. Batshaw, M. (2001). When your 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.

Expression of SyndromesAdditional Concerns

Evident & identified at birth Identified much later – expertise of

early interventionist critical Hypernasality & nasal emission

secondary to velopharyngeal insufficiency

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

Reasons for Speech Features

Hearing loss Velopharyngeal insufficiency Decreased intra-oral pressure Fistulae Orthodontic issues Compensatory articulatory patterns Speech-Language delays

Goals of Prevention

To support development of age-appropriate speech, language & cognition

To prevent development of maladaptive articulation patterns

To monitor hearing

Prevention Strategies

Authentic communication opportunities

Empower parents as facilitators

Brown Bear,

Brown Bear,

What Do You See?

Bill Martin Jr. / Eric Carle

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.

Pop! goes the weasel

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

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

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

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.

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.

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.comType in specific syndrome

Syndrome Specific WebsitesHemifacial 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

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=neurofibromatosistype2www.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

Gale Rice, Ph.D., CCC-SLPFontbonne University

Susan Lenihan, Ph.D., CEDFontbonne University

[email protected]@fontbonne.edu