Evaluation of Neurologic Syndromes with Mental Retardation and Auditory Sequelae

ABSTRACT

When the audiological function of a mentally retarded person is being assessed, knowledge of the etiology of the mental retardation and its associated findings can be used to optimize testing. This is particularly important when the ability of the patient to tolerate comprehensive testing is limited. Mental retardation has hundreds of different causes, many of which have associated hearing loss or deafness as a syndrome. Still, even when a specific syndrome has not been identified, audiological testing may be tailored to differentiate causes of mental retardation and to guide evaluation and treatment. Several representative syndromes and their corresponding audiological findings are described to illustrate the role of audiological assessment in the overall care of the patient with syndromal mental retardation. Resources are provided to help the reader locate corresponding information for other syndromes. Through the use of this knowledge, the care of the mentally retarded can be improved.

KEYWORDS

Hearing loss - mental retardation - syndromes

REFERENCES

• 1 Jablonski S. Online multiple congential anomaly/mental retardation (MCA/MR) syndromes. www.nlm.nih.gov/mesh/jablonski/jablonskicopy right.html. Accessed June 5, 2003
• 2 American Association on Mental Retardation. Mental Retardation Definition, Classification, and Systems of Supports, 10th ed. Washington, DC: American Association on Mental Retardation; 2002. 
• 3 Dille M F. Perspectives on the audiological evaluation of individuals with Down syndrome.  Semin Hear . 2003;  24 201-210
• 4 Nembhard W N, Waller D K, Sever L E, Canfield M A. Patterns of first-year survival among infants with selected congenital anomalies in Texas, 1995-1997.  Teratology . 2001;  64 267-275
• 5 Khalifa M M, Struthers J L. Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males.  Clin Genet . 2002;  61 49-53
• 6 Anderson H, Lindsten J, Wedenberg E. Hearing defects in males with sex chromosome anomalies.  Acta Otolaryngol . 1971;  72 55-58
• 7 Leppig K A, Disteche C M. Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.  Semin Reprod Med . 2001;  19 147-157
• 8 American Academy of Pediatrics Policy Statement. Health supervision for children with Turner syndrome.  Pediatrics . 1995;  96 1166-1173
• 9 Schreppers-Tijdink G A, Curfs L M, Wiegers A, Kleczkowska A, Fryns J P. A systematic cytogenetic study of a population of 1170 mentally retarded and/ or behaviorally disturbed patients including fragile X-screening.  J Genet Hum . 1988;  36 425-446
• 10 van Karnebeek D C, Koevoets C, Sluijter S. et al . Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown etiology.  J Med Genet . 2002;  39 546-553
• 11 Ryan A K, Goodship J A, Wilson D I. et al . Spectrum of clinical features associated with interstitial chromosome 22q11 deletions.  J Med Genet . 1997;  34 798-804
• 12 Shprintzen R J. Velocardiofacial syndrome.  Otolaryngol Clin North Am . 2000;  33 1217-1240
• 13 American Academy of Pediatrics Policy Statement. Health care supervision for children with Williams syndrome.  Pediatrics . 2001;  107 1192-1204
• 14 Hopyan T, Dennis M, Weksberg R, Cytrynbaum C. Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome.  Neuropsychol Dev Cogn Child Neuropsychol . 2001;  7 42-53
• 15 Johnson L B, Comeau M, Clarke K D. Hyperacusis in Williams syndrome.  J Otolaryngol . 2001;  30 90-92
• 16 Backes M, Genc B, Schreck J. et al . Cognitive and behavioral profile of fragile X boys.  Am J Med Genet . 2000;  95 150-156
• 17 Miezejeski C M, Heaney G, Belser R. et al . Longer brainstem auditory evoked response latencies of individuals with fragile X syndrome related to sedation.  Am J Med Genet . 1997;  74 167-171
• 18 Roach E S, DiMario F J, Kandt R S, Northrup H. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation.  Assoc J Child Neurol . 1999;  14 401-407
• 19 Seri S, Cerquiglini A, Pisani F, Curatolo P. Autism in tuberous sclerosis: evoked potential evidence for a deficit in auditory sensory processing.  Clin Neurophysiol . 1999;  110 1825-1830
• 20 American Academy of Pediatrics Policy Statement. Health supervision for children with neurofibromatois.  Pediatrics . 1995;  96 368-372
• 21 Pikus A T. Pediatric audiologic profile in type 1 and type 2 neurofibromatosis.  J Am Acad Audiol . 1995;  6 54-62
• 22 Elliott M, Maher E R. Beckwith-Wiedemann syndrome.  J Med Genet . 1994;  31 560-564
• 23 Schick B, Brors D, Prescher A, Draf W. Conductive hearing loss in Beckwith-Wiedemann syndrome.  Int J Pediatr Otorhinolaryngol . 1999;  48 175-179
• 24 Berger W. Molecular dissection of Norrie disease.  Acta Anat (Basel) . 1998;  162 95-100
• 25 Rehm H L, Zhang D S, Brown M C. et al . Vascular defects and sensorineural deafness in a mouse model of Norrie disease.  J Neurosci . 2002;  22 4286-4292
• 26 Tranebjaerg L, Schwartz C, Eriksen H. et al . A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.  J Med Genet . 1995;  32 257-263
• 27 American Academy of Pediatrics. Fetal alcohol syndrome and alcohol-related neurodevelopmental disorders.  Pediatrics . 2000;  106 358-361
• 28 Church M W, Abel E L. Fetal alcohol syndrome. Hearing, speech, language, and vestibular disorders.  Obstet Gynecol Clin North Am . 1998;  25 85-97
• 29 Rivera L B, Boppana S B, Fowler K B. et al . Predictors of hearing loss in children with symptomatic congenital cytomegalovirus infection.  Pediatrics . 2002;  110 762-767
• 30 Parazzini M, Ravazzani P, Medaglini S. et al . Click-evoked otoacoustic emissions recorded from untreated congenital hypothyroid newborns.  Hear Res . 2002;  166 136-142
• 31 Scholtz A W, Fish J H, Kammen-Jolly K. et al . Goldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin?.  Otol Neurotol . 2001;  22 501-505
• 32 Edwards B M, Kileny P R, Van Riper A L. CHARGE syndrome: a window of opportunity for audiologic intervention.  Pediatrics . 2002;  110 119-126
• 33 Bauer P W, Wippold F J, Goldin J, Lusk R P. Cochlear implantation in children with CHARGE association.  Arch Otolaryngol Head Neck Surg . 2002;  128 1013-1017
• 34 Rapin I. Autism.  N Engl J Med . 1997;  337 97-104
• 35 Rosenhall U, Nordin V, Sandstrom M, Ahlsen G, Gillberg C. Autism and hearing loss.  J Autism Dev Disord . 1999;  29 349-357
• 36 Stach B A, Stoner W R, Smith S L, Jerger J F. Auditory evoked potentials in Rett syndrome.  J Am Acad Audiol . 1994;  5 226-230
• 37 Batshaw M L. Mental retardation.  Pediatr Clin North Am . 1993;  40 507-521
• 38 Curry C J, Stevenson R E, Aughton D. et al . Evaluation of mental retardation: recommendations of a consensus conference.  Am J Med Genet . 1997;  72 468-477
• 39 Braden J P. Deafness, Deprivation, and IQ. New York: Plenum; 1994
• 40 Van Naarden K, Decoufle P, Caldwell K. Prevalence and characteristics of children with serious hearing impairment in metropolitan Atlanta.  Pediatrics . 1999;  103 570-575
• 41 Green G E, Scott D A, McDonald J M. et al . Performance of cochlear implant recipients with GJB2-related deafness.  Am J Med Genet . 2002;  109 167-170
• 42 Vitelli F, Piccini M, Caroli F. et al . Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).  Genomics . 1999;  55 335-340