21. Causes of Neonatal Hearing Impairments I.Genetic II.Non-Genetic III.Unknown

22. I. Genetic Accounts for 30-50% May be autosomal dominant/recessive, x- linked or sporadic Can be syndromic or non syndromic

23. Syndromic Typically present with involvement of other organ systems May have specific characteristic manifestations Cause approximately 38.5% of hearing loss present at birth (Billings, 1999)

24. Syndromes associated with hearing loss Organ or SystemSyndromeInheritance PatternHearing LossObvious Physical Abnormalities External earDiGeorge sequelaeSporadicCHLYes Branchio-oto-facial syndromeADCHLYes Townes-Brocks syndromeADSNHLYes Miller syndromeARCHLYes Bixler syndromeARCHLYes Cardiac Coloboma, heart disease, atresia choanae, retarded growth, and ear anomalies (CHARGE) syndrome AD, AR, X linked, sporadicSNHL, mixedYes Jervell Lange-Nielson syndromeARSNHL... Limb-oto-cardiac syndromeARCHLYes RenalAlport syndromeAD, AR, X linkedSNHLYes or no Branchio-oto-renal syndromeADSNHL, CHLYes Kearns-Sayre syndromeSporadicSNHLYes Epstein syndromeADSNHL... Barakat syndromeARSNHL...

25. Mental (retardation)Noonan syndromeSporadicSNHLYes Killian/Teschler-Nicola syndromeSporadicSNHLYes Cockayne syndrome, type IARSNHLYes Gustavson syndromeX linkedSNHLYes DermatologicWaardenburg syndromeADSNHLYes Lentigines, ECG, ocular, pulmonary, abnormal, retardation, and deafness (LEOPARD) syndrome ADSNHLYes Senter syndromeARSNHLYes Black locks with albinism and deafness (BADS) syndrome ARSNHLYes Davenport syndromeARSNHLYes Endocrine and/or metabolicPendred syndromeARSNHLYes Johanson-Blizzard syndromeARSNHLYes Refetoff syndromeARSNHLYes Wolfram syndromeARSNHLYes or no Kallmann syndromeAD, AR, X linkedSNHL, mixedYes or no FacialGoldenhar syndromeAD, ARCHL, SNHLYes Frontometaphyseal dysplasiaX linkedMixedYes Escher-Hirt syndromeADCHLYes Levy-Hollister syndromeADSNHLYes OphthalmologicUsher syndromeARSNHLYes or no Marshall syndromeADSNHLYes Alström syndromeARSNHLYes Harboyan syndromeARSNHLYes or no Fraser syndromeARCHLYes Jensen syndromeX linkedSNHL... OrthopedicKlippel-Feil sequelaeSporadicCHL, SNHLYes Stickler syndromeADCHL, SNHL, mixedYes Craniometaphyseal dysplasiaAD, ARCDYes Oto-spondylo-megaepiphyseal dysplasia (OSMED) syndrome ARSNHLYes

26. Non syndromic has isolated problem in the auditory system gross physical abnormality of the structure or covert hearing impairment estimated to represent more than half of the genetic cases may account for most of the cases with no known cause

27. II. Non Genetic estimated to cause 28.6 % of hearing impairment in children (Billings, 1999) classified into: –Prenatal - 5-10% of cases; classified as infectious (CMV, Herpes,etc) and non infectious (teratogens) –Perinatal - 5-15% of cases (LBW, low APGAR, etc) –Post natal - otitis media, ototoxic medications,(aminoglycosides), infections (meningitis, mumps).

28. III. Unknown Causes Causes 20-30%; 31%(Billings, 1999) Cases with no identifiable cause for hearing impairment Hypothesized to be a result of denovo mutations or unidentified risk factors