A follow up hearing test is recommended in n months

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A follow-up hearing test is recommended in N months. We will continue to monitor your baby’s development. Please let us know at any time if you have concerns about your baby’s development. Here is a brochure about speech and language development. We can make a referral for further testing if needed.
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Physical Exam Growth Parameters Microcephaly and/or short stature may suggest a congenital infection (e.g., CMV, rubella) or underlying genetic disorder. Tall, thin body habitus is associated with Marfan or Stickler syndrome. Skin Pigmentary abnormalities of skin and/or hair may signify a genetic syndrome associated with hearing impairment (cafe au lait macules in neurofibromatosis type 1, hypopigmented patches and/or white forelock in Waardenburg syndrome).
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Physical Exam HEENT Assess for anatomic craniofacial abnormalities such as submucous cleft palate, pre-auricular tags/pits, auricular malformations. Pneumatic otoscopy should be performed to assess tympanic membrane mobility and middle ear pressure. Examine the neck (for masses), sinuses, and pits.
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Physical Exam cont. Extremities/Musculoskeletal Musculoskeletal malformations may suggest a genetic syndrome associated with hearing impairment (e.g., cubitus valgus in Turner syndrome, fused digits in Apert syndrome). Neurologic Exam Abnormalities in tone or sensation may indicate an underlying neurologic disorder.
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Genetic Testing/ consultation Genetic testing should be considered in all children without a known etiology for their HL. Patients requiring genetic testing should be referred to a geneticist, genetic counselor, or interdisciplinary hearing assessment clinic, if available. Genetic testing for commonly involved genes implicated HL is available and the cost is covered by insurance. Connexin-26 mutations are the most common Genetic testing will often predict which children need to be followed closely for retinal, renal, cardiac, etc. problems.
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Causes of Permanent Hearing Loss in 100 Infants 40% Environmental 40 60% Genetic 60 30% syndromes (>400) 40 30% >75 genes ident 20 ½ are GJB2 – Connexin 26
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Genetic Causes Single gene Connexin 26 Gene + environment Mitochondrial + ototoxic Gene + gene Gene + other gene
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Genetic Causes of Hearing Loss: Contribution of Cx26 50% of DFNB - mutations of GJB2 or Connexin 26 ~15% of congenital hearing loss – Cx26 mutations Genetic ~50-60% Syndromic ~30% Nonsyndromic ~70% Dominant 20% Recessive 80% X-linked ~1 % Mt <1%
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More than 400 Syndromes associated with HL Sy ndrome Characteristicss Dominant – most common Waardenburgs SNHL White forelock, premature graying hair, fused eyebrows, heterochromia irides ( two different- colored eyes ( blue and brown), widely-spaced eyes (hypertelorism), high nasal bridge, under- developed nose,partial albinism Dominant- 2 nd most common Branchio-oto-renal C or SNHL or mixed Branchial cleft cysts, preauricular pits, ear malformations, renal abnormalities Recessive- most common Usher- 3 SNHL types I profound & VD II- downward sloping III- Progressive & VD All associated with Retinitis pigmentosa leading to blindness Recessive- 2 nd most common Pendred SHNL or mixed HL; may be progressive May have euthyroid goiter develops in puberty;
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  • Fall '19
  • Otology, Sensorineural Hearing Loss, Tinnitus, Hearing impairment, Long QT syndrome

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