-------------------------------------------------------------------------------- TITLE: CONGENITAL HEARING LOSS SOURCE: Dept. of Otolaryngology, UTMB, Grand Rounds DATE: May 13, 1992 RESIDENT PHYSICIAN: Jeff S. Chimenti, M.D. FACULTY: Chester L. Strunk, M.D. DATABASE ADMINISTRATOR: Melinda McCracken, M.S. -------------------------------------------------------------------------------- "This material was prepared by resident physicians in partial fulfillment of educational requirements established for the Postgraduate Training Program of the UTMB Department of Otolaryngology/Head and Neck Surgery and was not intended for clinical use in its present form. It was prepared for the purpose of stimulating group discussion in a conference setting. No warranties, either express or implied, are made with respect to its accuracy, completeness, or timeliness. The material does not necessarily reflect the current or past opinions of members of the UTMB faculty and should not be used for purposes of diagnosis or treatment without consulting appropriate literature sources and informed professional opinion." CONGENITAL HEARING LOSS I. Classification of Childhood Hearing Loss A. Congenital 1. Genetic a. Hearing loss alone b. Hearing loss associated with other abnormalities 2. Acquired B. Postnatal 1. Genetic a. Hearing loss alone b. Hearing loss associated with other abnormalities 2. Acquired Note: Differentiation between congenital (before birth) and postnatal deafness is important in management. II.Pathoembryology A. Inner ear has separate development (otic placode) at a different time (4th-20th week gestation) from external and middle ear, however inner ear abnormalities do occur in 15-20% of cases of external canal atresia (SNHL in only 6%). B. Auricle (1st and 2nd branchial arches) is formed early from 6th-12th week gestation and malformation of auricle implies malformation of middle ear, mastoid, VII nerve. Normal auricle with external canal (1st branchial groove) atresia indicates abnormal development during 28th week gestation by which time ossicles and middle ear already formed. Ossicles: 1st arch derivatives--malleus head, incus short process and body; 2nd arch derivatives--manubrium of malleus, incus long process, stapes. C. Histopathology of Congenital SNHL 1. Abnormal bony labyrinth a. occurs rarely b. due to faulty induction of inner ear (bony labyrinth inductor = developing CNS); fetus with abnormal brain development will often have abnormal bony labyrinth c. abnormal bony labyrinth seen on radiographic exam of inner ear- -suspect CNS abnormality 2. Abnormal neuroepithelium a. occurs more frequently--predominant histopathology in most congenital and postnatal SNHL b. usually absence of organ of Corti + abnormal surrounding membranous structures c. thought to be secondary to premature cell death (degeneration) rather than lack of development d. with abnormal bony labyrinth, neuroepithelium is often normal e. with loss of organ of Corti and sound deprivation, normal development of CNS may be impaired; some of the CNS changes (with subsequent behavioral deficits) may be ameliorated by early use of sound stimulation--early detection of hearing loss is imperative III. Genetic Deafness A. General 1. of all congenital deafness, 50% is secondary to acquired disease and 50% is inherited 2. of the inherited congenital deafness, 75-88% is autosomal recessive (AR), 12-24% is autosomal dominant (AD), 1% is X-linked 3. exist in a variety of combinations of types of HL, mode of inheritance, rate of progression 4. majority of hereditary congenital HL is clinically undifferentiated (not part of recognizable syndrome and does not affect other organ systems) 5. conductive autosomal recessive HL always exists as part of a syndrome; clinically undifferentiated conductive HL is therefore autosomal dominant 6. autosomal recessive is usually stable; autosomal dominant tends toward progression B. No Associated Organ System Involvement 1. Diagnosis: (hereditary HL w/o stigmata) a. 2 or more siblings affected b. consanguineous marriage c. family history of HL d. audiometric indications of HL in relatives of deaf child not attributable to another cause 2. variable penetrance with AD transmission: unilateral HL may represent incomplete penetrance; 25% of unilateral SNHL is genetic 3. consider X-linked inheritance if only male children deaf with no known diagnosis C. Inner Ear Aplasia 1. General a. inner ear deformity can occur alone or in association with a recognized syndrome b. more accurately thought of as a spectrum 2. Classification a. Michel Aplasia (1) most severe form (2) complete failure of bony and membranous labyrinth development (3) no residual hearing b. Mondini Aplasia (1) incomplete formation of bony and membranous labyrinth, often asymmetrical (2) middle and apical turns of cochlea occupy common bony space (cloaca) (3) cochlea represented by single curved tube with 1 1/2 instead of 2 3/4 turns (4) vestibular structures also underdeveloped (5) 2nd most common, (autosomal dominant) c. Scheibe Aplasia (1) most common, (autosomal recessive) (2) membranous aplasia of pars inferior (cochlea/saccule) (3) bony labyrinth normal (no radiographic abnormality) (4) Audio--profound SNHL with residual low frequency hearing d. Alexander Aplasia (1) least severe (2) partial aplasia of cochlear duct (basal turn) (3) high frequency HL D. Associated Organ System Involvement 1. Integumentary System a. Waardenburg Syndrome (1) autosomal dominant-variable penetrance (2) most frequently diagnosed hereditary deafness syndrome (1-2% of all congenital deafness) (3) 6 predominant features: 1. widely spaced medial canthi with shortening of palpebral fissures; 2. prominent, broad nasal route; 3. hypertrichosis of eyebrows; 4. white forelock; 5. heterochromia of irides; 6. SNHL (total or subtotal) in 20% of cases (4) other features: cleft lip/palate, high arched palate, areas of depigmentation, absent vestibular response (5) Diagnosis: observing stigmata in patient or family (dystrophic canthi and increased intercanthal distance are most common expressions of syndrome) b. LEOPARD Syndrome (1) autosomal dominant (2) lentigines, EKG abnormality, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, bilateral sensorineural deafness (25% affected) 2. Skeletal Dysplasia a. Klippel-Feil Syndrome (1) autosomal recessive; females > males (2) severe progressive SNHL with middle ear anomalies (conductive component), short neck due to fused cervical vertebrae, spina bifida, EAC atresia b. Pierre Robin Syndrome (1) autosomal dominant (2) main features: cleft palate (50%), micrognathia, glossoptosis (3) mixed hearing loss, malformed auricles, mental retardation, hypoplastic mandible, aspiration--common cause of death c. Van der Hoeve's Syndrome (Osteogenesis imperfecta) (1) autosomal dominant (2) bone fragility, blue sclera, progressive deafness--conductive, sensorineural, or mixed beginning in childhood (50% affected) 3. Craniofacial Anomalies a. Treacher-Collins Syndrome (Mandibulofacial dysostosis) (1) autosomal dominant (2) auricle malformed and small; preauricular fistulas; EAC atresia (3) mandibular and malar hypoplasia--fishmouth (4) usually bilateral involvement (5) down sloping palpebral fissures; notched lower lids (6) CHL due to malformed malleus/incus (stapes normal)--30% have significant HL b. Goldenhar's Syndrome (Oculoauriculovertebral dysplasia) (1) autosomal dominant or autosomal recessive (2) 1st and 2nd arch abnormality (3) often unilateral (hemifacial microsomia) (4) malformed auricles/microtia; malformed middle ear/ossicles; possible underdeveloped inner ear (5) mostly CHL--40% affected (6) upper lid colobomas, epibulbar dermoids, hypoplasia of mandible/ maxilla, cleft palate, spinal anomalies c. Crouzon's Syndrome (Craniofacial dysostosis) (1) autosomal dominant (2) CHL due to EAC atresia or middle ear malformations--30% affected (3) premature closure of cranial suture lines, midface hypoplasia, bulging eyes--"frog face" d. Apert's Syndrome (Acrocephalysyndactyly) (1) autosomal dominant (2) facial morphology similar to Crouzon's syndrome, but also syndactyly of hands and feet (3) mental retardation common 4. Ocular Abnormalities a. Usher's Syndrome (1) autosomal recessive (2) 4% of congenital deafness (3) characteristics: congenital SNHL, progressive retinitis pigmentosa, night blindness and tunnel vision, cataracts, mental retardation, psychosis, spinocerebellar ataxia (4) vestibular dysfunction--almost all will have no vestibular response to caloric test or ice water calorics; helps in diagnosis when etiology unknown (5) usually born deaf due to atrophy of organ of Corti with progressive vision loss from retinitis pigmentosa; night blindness is 1st retinal sign (before age 10) with 50% patients having decreased visual acuity by 2nd decade (6) retinal findings: granular accumulation of pigment beginning at fundus and extending to periphery (7) Diagnosis: ophthalmoscopy or electroretinography--perform in infant born with SNHL of unknown etiology; may need routine fundoscopic exams during first 2 decades; important to determine if vision will be lost because if deaf patient loses vision, must initiate special habilitative intervention; important for parents to know if they carry the gene; test family members (audio, electroretinography) to identify heterozygote carriers b. Alstrom's Syndrome (1) autosomal recessive (2) progressive SNHL beginning in childhood, obesity, diabetes, retinal pigmentation c. Refsum's Disease (1) autosomal recessive (2) progressive aymmetric SNHL (50%), neurologic dysfunction, retinitis pigmentosa, ichthyosis beginning late childhood (3) absence of enzyme for phytanic acid metabolism (from chlorophyll) (4) Dx.: high phytanic acid plasma level (5) Tx.: eliminate phytanic acid from diet 5. Cardiac Abnormalities a. Jervell and Lange-Nielsen Syndrome (1) autosomal recessive (2) characteristics: profound bilateral SNHL (high frequency worst), recurrent syncope (prominent feature), usually terminates in sudden death--early detection important to preserve life (3) suspect with family history of SIDS (4) EKG abnormalities: large T waves, prolonged QT interval (5) syncopal episodes usually begin 2nd or 3rd decade, last 5-10 minutes, frequency variable (EKG--asystole followed by V. tach) (6) 50% die before age 15 w/o treatment (7) Treatment: 1. propanolol +/- phenobarbital 2. implant cardioverter defibrillator when refractory to drugs (8) Diagnosis: all patients with idiopathic SNHL should have at least 1 EKG; attempt to identify carriers in family members with EKG (note: EKG may normalize in young adults) (9) cardiac histopathology: hypertrophy of intima of artery to SA node, infarction of SA node, abnormal Purkinje fibers and AV node 6. Renal Abnormalities a. Alport's Syndrome (1) autosomal dominant (2) most common progressive inherited cause of SNHL in children (3) characteristics: progressive SNHL usually beginning age 10, progressive nephritis with hematuria and proteinuria beginning 1st or 2nd decade (4) males more severely affected--if untreated usually die by 3rd decade; females often have normal life span with toxemia during pregnancy (5) Diagnosis: consider Alport's in any child with SNHL of recent onset; UA -- >3 RBCs/HPF, >5 WBCs/HPF, proteinuria; serum Cr/BUN abnormal; IVP--atrophy or lobulated kidney with advanced disease (6) HL usually progresses with age, predominant in HF, affects 50%, correlation between HL severity and renal disease severity; seldom more than severe HL--helped significantly with hearing aid; possible improvement in HL after renal dialysis or renal transplant (7) ocular abnormality may also occur and is important because of possible impairment of 2 sensory modalities (similar to Usher's Syndrome and Congenital Rubella); occurs in 23% with lens most commonly involved (8) histopathology: degeneration of organ of Corti, atrophy of spiral ganglion, thickening of glomerular basement membrane, focal sclerosis, interstitial fibrosis, foam cells 7. Endocrine Dysfunction a. Pendred's Syndrome (1) autosomal recessive (2) variable bilateral SNHL (atrophy of organ of Corti) -- usually severe to profound, especially high frequency (3) develop goiter which usually apparent before age 8; usually euthyroid; no association with cancer; perchlorate test - - abnormal organification of nonorganic iodine (4) comprise 1-7% severe to profoundly deaf children (5) U-shaped audiogram, vestibular response variable (6) Treatment: exogenous thyroid hormone; total or partial thyroidectomy is contraindicated -- goiter returns 8. Metabolic Storage Diseases a. Mucopolysaccharidoses (1) ie., Hurler's Syndrome (Gargoylism); Hunter's Syndrome is same but X-linked (2) characterized by excessive urinary excretion of glycosaminoglycans (3) abnormal mucopolysaccharides are deposited in tissues (4) all autosomal recessive (except Hunter's) (5) hearing loss is conductive or mixed with air-bone gap in high frequencies (6) dwarfism, forehead prominence, low set ears, mental retardation, hepatosplenomegaly, coarsening of facial features, corneal opacities (7) death in early adolescence 9. Chromosomal Abnormalities a. Trisomy 13 and 18 b. lethal in infancy c. mixed hearing loss (may also occur in children with Down's Syndrome -- important to recognize because the sensory deprivation may be significant burden for Down's children) IV. Acquired Congenital Deafness A. Maternal ingestion of teratogens/ototoxins 1. Thalidomide 2. Streptomycin 3. Quinine, Chloroquine phosphate B. Intrauterine infection (note: often no signs/symptoms of maternal infection) 1. Rubella a. most common cause of acquired congenital SNHL b. earlier in intrauterine life--more severe effects, 5-10% of mothers with rubella in 1st trimester give birth to children with deafness c. clinical presentation: (after 1 week of inapparent viral infection) -- posterior cervical and retroauricular adenopathy followed by mild URI, then rash which begins on face and disappears rapidly in 72 hrs. d. Diagnosis: physical exam +immunologic techniques, maternal rash or exposure history e. Findings: pigmentary retinitis ("salt and pepper")-- most common and consistent finding; congenital cataracts, microcephaly (mental retardation), cardiovascular anomalies, IUGR, jaundice, long bone lesions f. suggested that all pregnant women have rubella titers drawn at beginning of pregnancy and follow-up titers later g. Titer: diagnosis based on rubella specific IgM in cord blood or mother/infant serum in 1st 6mos.; older children--more difficult diagnosis (vaccination, infection with wild type virus); titer should be obtained from all patients and mothers when etiology of SNHL unknown (unless child has been immunized) h. severe to profound SNHL, may be assymetric, may be progressive; may have CHL--fixed stapes or CSOM secondary to high arched palate, therefore audiometric + impedance monitoring for progressive HL or CHL is important i. there is an increased incidence of SNHL caused by rubella in families with genetic predisposition to SNHL (possibly predisposition increased by presence of both factors) 2. Cytomegalic inclusion disease a. CMV--very ubiquitous viral infection, nearly always without signs/ symptoms of maternal illness;55-72% pregnant women have positive CMV titers--10% of their offspring have CMV infection; majority of CMV infected infants appear normal but 10-15% develop disabilities from CNS damage (developmental delay, learning difficulties); neonates with symptoms at birth (less common) have more severe form and HL is common (1 in 3000 live births) b. CMV can infect neonate when mother has a primary or subsequent infection (consecutive pregnancies with infected children); children infected during mother's primary infection have more severe morbidity c. Teratogenic action variable with lower incidence of pathologic change than rubella--HL of variable severity, can be progressive d. Stigmata: microcephaly, hydrocephaly, mental retardation, palatal abnormalities, intracerebral calcifications, prematurity, low birth weight, chorioretinitis, jaundice with hepatosplenomegaly, petechiae e. Diagnosis: positive titers (CMV specific IgM) from mother and child (sometimes deceiving), stigmata (may not be present), positive CMV urine cultures (very helpful in early infancy); No established means of prevention or treatment 3. Other Intrauterine Infections a. Toxoplasmosis--parasitic disease causing fever, lymphadenopathy, pulmonary lesions and calcific foci in mother b. Influenza--maternal fever, lymphadenopathy, URI, arthralgias, myalgias c. Herpes 1 and 2--history of labial or vaginal lesions d. Syphilis--25-38% of patients with congenital syphilis have HL (1) early (infantile) form--severe, bilateral SNHL, usually multisystem involvement with fatal outcome (2) late (tardive) form--onset in early childhood with bilateral, severe, sudden SNHL associated with vestibular symptoms (similar to Meniere's disease); may have later onset (as late as 5th decade)--mild HL with severe episodic vertigo; one ear affected first followed by the other ear (3) Histopath: osteitis, obliterative endarteritis, endolymphatic hydrops (4) Signs: Hennebert's--positive fistula test with no clinical evidence of middle ear or mastoid disease or fistula (fibrous bands between footplate and vestibular membranous labyrinth or excessively mobile footplate); Tullio's phenomenon--vertigo and nystagmus with high intensity sound (5) Treatment: penicillin + steroids C. Perinatal Causes 1. Prematurity a. most common cause due to factors including: anoxia, kernicterus, ototoxic medication, labyrinthitis, meningitis, temporal bone fractures b. prematurity as a factor in SNHL--10% c. 2% children less than 1.36 kg (3 lbs.) have significant SNHL d. premature infant has 20x greater chance of deafness than normal birth weight child e. usually severe SNHL especially HF f. 68% of premature children with SNHL have multiple handicaps (aphasia, MR, visual pathology, emotional disturbance) and this must be considered in planning rehab program 2. Anoxia a. most important factor in SNHL of premature infant; asphyxia likely with cord blood pH <7.25, 5 minute Apgar <5 b. pathologic lesion probably lies in cochlear nucleus and other portions of CNS (not cochlea) c. high rate of other CNS handicaps 3. Kernicterus a. many are also premature b. few cases of RH incompatibility, but ABO and other blood group incompatabilties assoc. with kernicterus + SNHL c. hearing loss--bilateral HF SNHL with little loss of speech discrimination; 22% have severe SNHL correlating with severity of hemolytic disease d. Histopath: abnormal CNS with greatest nerve cell injury in ventral cochlear nucleus e. exchange transfusion --if serum bilirubin >20mg/dl D. Other Causes 1. Placental/umbilical cord disruption--interference with fetal oxygenation 2. Irradiation (1st trimester) 3. Maternal alcoholism--nutritional disturbances 4. Endocrine disease (maternal): thyrotoxicosis, diabetes, pseudohypoparathyroidism 5. Immunologic disorders V. Genetic Counseling A. Extremely important aspect of patient care B. Clinically, 40% of congenital HL cases will not be found to have a known cause; all idiopathic cases must have: review of family history, search for consanguinity, PE of family members for stigmata, audiometry of family members (best method to detect heterozygotes (AR) and partial penetrance (AD)) C. Children born to older parents may be affected through new dominant mutations D. Risk: (for other children) 1. AD--50%, AR--25% 2. may be altered by incomplete penetrance 3. unknown etiology--presume genetic cause (AD, AR, X-linked)--risk >1 in 1000 and <1 in 2 or 1 in 4 4. informing parents--must give estimate of overall risk = 10%; varies with birth order (first child after affected sibling--12.5%, second child--10%, third child--7.5%, fourth child--5%) VI. Diagnosis and Management of Childhood Deafness A. Diagnosis 1. General a. prompt diagnosis of HL in infant/child is imperative because if delay occurs, there may be irreversible abnormal pattern of speech, language, social interaction, cognitive abilities, communication skills b. because of importance of normal development, every attempt should be made to identify HL as young as possible (no child is too young to be tested); also, some HL is associated with life threatening disorders for which medical intervention is available c. early rehabilitation is especially important with progressive HL before it becomes profound (advantage of period of auditory learning) d. 3 ways child is identified as being at risk for HL: 1. referral from infant or school screening program; 2. identification through high risk registry; 3. parental identification of hearing problem e. infant or child may present due to lack of response to sound or delayed language development f. Early signs of abnormal speech/language development: 6 months--no response to sound or voice, 9 mos.--no response to name, 12 mos.- -does not babble, 15 mos.--does not understand or respond to "no" or "bye-bye", 18 mos.--no words other than "ma-ma" or "da-da", 2 years--no 2-word phrases or less than 25 words, 3yrs.--no simple questions, 4 yrs.-- consistent articulation errors (except "r", "s", "th"), 5 yrs.--awkward sentence structure or dysfluency g. differential dx. of hearing loss: peripheral SNHL, CHL, central auditory processing abn., MR, maturational delay in responsiveness to sound 2. Evaluation (history, physical exam, ancillary studies, audiologic exam) a. HISTORY--detailed interview of parents, try to determine time of onset, most common cause of HL in children = otitis media, if suspected congenital or postnatal SNHL, then obtain history in orderly manner: (1) gestational--identify factors which may have caused HL during fetal development; 1st trimester most important; causes include maternal infections, maternal ingestion of ototoxic drugs, interference with fetal oxygenation (placental disruption), irradiation, maternal alcoholism, immunologic or endocrine disorders (2) perinatal--often difficult to establish cause/effect because do not know hearing status if event had not occurred; causes include prematurity, anoxia (placeta previa, abruptio placentae, long difficult labor, prolapsed cord), kernicterus, ototoxic med., birth trauma (3) postnatal--causes include viral labyrinthitis (measles, mumps, chicken pox, influenza), encephalitis, meningitis, sickle cell anemia, head trauma, sound trauma, congenital syphilis, perilymph fistula (4) family--review family history of HL, consanguinity, stigmata of genetic disease, other known congenital abnormalities; can be difficult to determine specific inheritance pattern especially with incomplete penetrance; consider performing audios on parents, grandparents, siblings to discover carriers that may lead to diagnosis b. PHYSICAL EXAM--detailed otologic exam, review of all organ systems for abnormalities suggesting syndrome (especially neurologic, opthalmologic, cardiac, renal)--see Fig. 14-1, Table 14-1 *(Note: probable cause can be established from H&P in 50% cases) c. ANCILLARY STUDIES (1) TORCH Studies--when hearing impaired neonate is identified, serial antibody titers for viral infections should be drawn; look for elevated IgM; urine culture for CMV; should get rubella titer in all children and mothers if no history of immunization (2) FTA-Abs/VDRL-- routinely ordered on child with SNHL of unknown etiology (3) Urinalysis--proteinuria, hematuria may be 1st indication of Alport's Syndrome (4) Thyroid function tests--HL associated with thyroid disorders (Pendred's Syndrome usually euthyroid but abn. perchlorate test) cretinism--retarded growth, mental retardation, mixed HL (5) EKG--if history of syncopal episodes, consider Jervell and Lange- Nielsen Syndrome (prolonged QT interval) (6) Vestibular function tests--usually of little diagnostic value but check if child having difficulty walking/balance; warn against swimming; no response on ice water calorics may indicate Usher's Syndrome (7) Radiographic studies-- used to support tentative diagnosis; CPA tumor (acoustic neuroma), bony labyrinth malformations--if abnormal, then expect other neurologic deficits; CT to assess temporal bone, MRI with gadolinium better at diagnosis of inflammatory, demyelinating, ischemic diseases and better resolution of CPA; if audiometric testing cannot provide ear-specific information, temporal bone radiographs may be useful to identify the less-aplastic and presumably better hearing ear *Which tests to order initially? If suspect congenital or postnatal SNHL,then obtain tests of renal function (BUN/Cr, UA with microscopic), FTA-Abs, TFTs, routine ophthalmologic exam, +/- EKG; neonate--TORCH antibody titers drawn and repeated in 6 mos.; other tests ordered as indicated by H&P d. AUDIOLOGIC EVALUATION (1) Neonate-- at risk neonates identified and tested by screening HIGH RISK REGISTER (ABCD's) Affected family member Elevated bilirubin (>20 mg%) Congenital intrauterine infection Associated defects Small at birth (<1500 gms.) Hypoxia at birth ABR is cornerstone of objective audiometry in neonate; absolute latencies of waves I and V prolonged but normal interpeak latency--probable CHL; normal absolute and interpeak latencies with increased thresholds--cochlear loss; abnormal interpeak latencies--retrocochlear or CNS abn.; limitation of ABR--mostly high frequency tested (1-4 kHz) and HL type cannot be definitely determined (2) Infant--behavioral test methods more feasible the older the infant; 2 mos.--begin to be able to be conditioned for play audiometry with most responding at 6 mos.; 1 yr.--child localizes consistently so visual reinforcement audiometry more useful; behavioral testing superior to ABR--can better quantitate impairment and characterize type of HL (3) Preschool--screening tests begun; attempt complete audiologic battery (air-bone conduction pure tone, speech reception thresholds, tympanogram); often need to be combined with conditioned response B. Intervention and Health Maintenance 1. Patients diagnosed prelingually with severe to profound HL need at least 3 interventions: a. proper amplification (usually binaural HA) as early as possible b. Infant auditory training program (1) oral training--perhaps reinforced with lip reading; recommend only for children with no developmental delay and mod.-severe HL or postlingually deaf with no developmental delay (2) total communication--sign language + oral training with lip reading; better--develop more effective language skills as they mature, social relations appear better (easier communication between parent and child); (note: oral language may develop slowly but child must develop language base prior to age 3 and is able to do this more rapidly with total communication); especially important for: 1. patient with developmental delay; 2. significant delay in diagnosis (i.e., not discovered until 2-5 yrs. old) c. inform parents of child's disability and plan habilitation program 2. Role of Otologist a. aggressive treatment of serous otitis, recurrent OM to eliminate conductive component and maximize hearing; surgery for malformed ossicles best undertaken in early childhood b. suspect middle ear pathology if initial good response to HA followed later by poor response c. otologic exam recommended every year with hearing test to assess for serous otitis or progression of SNHL d. assist Audiologist in informing parents--help with grieving process (anger, denial, etc.); leave option open for binaural HAs (binaural amplification always best); HAs can be used on child as young as 2 mos. e. recommend genetic counseling and testing of siblings 3. Team approach for complete care--Audiologist, Speech Pathologist, Social Worker, Sub-Specialists (associated abnormalities), Pediatrician (developmental assessment), Otolaryngologist (team coordinator) 4. Special category of patient--if no etiologic diagnosis with possible recessive genetic gene, Usher's Syndrome is a possibility--consider this so that proper habilitative program can be instituted for deaf child who may become blind (if child taught to depend on visual cues than they will lose much of what has been learned); should be examined ophthalmologically routinely to detect impending blindness 5. Resources available: a. Public Law 94-142 (federal law)--"all children identified with significant hearing impairment are eligible for school services age 0-21" b. system of resources varies from state to state--contact local Audiologist c. Texas: (1) Hearing Impairment Co-op (Regional Day School Programs for the Deaf)--eligibility requirements include 1. audiologic exam by licensed audiologist; 2. otologic exam by liscensed Otologist; eligibility allows child to be evaluated by specialist who deals with hearing impaired; child is evaluated by a team and placement is decided by the team: 0-3 yrs.--served at home parent/infant trainer) > 3 yrs.--1. self-contained classroom (full-time special teacher) --2. itinerante (sees hearing impaired specialist 1 or 2x per week --3. mainstream What to do? Call school first and school will contact co-op (2) Early Childhood--more for overall developmental delay (3) Maternal and Child Health (MCH)--state supplies HA if family financially qualifies (age 0-21 yrs.) < 3 yrs.--binaural > 3 yrs.--must prove benefit to get binaural (4) Texas Rehabilitation Commission (TRC)--hearing aids (> 18 yrs.) -------------------------------------------------------------------------------- BIBLIOGRAPHY 1. Bergstrom, L., and Stewart, J.; New Concepts in Congenital Deafness; Otolaryngol. Clin. North Am.; 4:431, 1971. 2. Bluestone, C.D., and Stool, S.E.; Pediatric Otolaryngology; W.B. Saunders 3. Cummings, C.W.; Otolaryngology-Head and Neck Surgery (Vol. 4); The C.V. Mosby Co., 1990. 4. Lee, K.J.; Essential Otolaryngology; Medical Examination Publishing Co., 1987. 5. Northern, J.L., and Downs, M.P.; Hearing in Children; Williams and Wilkins Co., 1978. 6. Riko, K.; Hearing Loss in Early Infancy: Incidence, Detection, and Assessment; Laryngoscope; 95:137, 1985. 7. Sataloff, R.; Hearing Loss Associated with Hereditary Diseases and Syndromes; Ear, Nose, and Throat J.; 62:22, 1983. 8. Strauss, M.; A Clinical Pathologic Study of Hearing Loss in Congenital Cytomegalovirus Infection; Laryngoscope; pp.951-62, Aug. 1985. 9. Wahl, R.A., and Dick, M.; Congenital Deafness with Cardiac Arrhythmias: The Jervell and Lange-Nielsen Syndrome; Am. Ann. Deaf.; 125:34, 1980. -----------------------------------END-----------------------------------------