These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A stepwise approach to the diagnosis and treatment of hereditary hearing loss.
    Author: Tomaski SM, Grundfast KM.
    Journal: Pediatr Clin North Am; 1999 Feb; 46(1):35-48. PubMed ID: 10079788.
    Abstract:
    What To Do Do suspect a genetic cause in all cases of hearing loss. Do develop a working knowledge of common types of HHI that you may draw on to aid in diagnosis. Do think of HHI when the audiogram reveals a hearing loss with a "cookie bite" configuration. Do refer the infant to a geneticist in cases where you suspect a syndromic HHI, a nonsyndromic HHI, and in cases of "cryptogenic" hearing loss where an underlying HHI may be present. Often, the associated symptoms are subtle and best detected by a professional who deals with these issues on a daily basis. Do get the infant or family plugged into an audiologist or otolaryngologist and speech pathologist who will preferably work as a team to maximize aural rehabilitation and ensure serial follow-up. It is never too early to fit a child with hearing aids. Do refer to the HHIRR center at Boys Town. Do refer to the correct "deaf" organization or "blind-deaf" organization. Do think about working up other siblings or family members. Do keep in mind that some members of the "deaf society" may regard deafness as an alternative lifestyle and may not be amenable to their child's referral for additional workup and aural rehabilitation. What Not To Do Do not assume the child is deaf and nothing can be done. Do not wait until the child is older to refer to an otolaryngologist, speech therapist, and audiologist. Do not order a sonogram. Do not order a temporal bone CT scan on newborns. Do not forget about other siblings who may have a similar pathology. Do not forget that some forms of HHI can present beyond infancy. The pediatrician is the front line and can play a major role in the diagnosis, workup, and treatment of HHI. Armed with the proper degree of suspicion, careful elicitation of family history, meticulous physical examination, evaluation of the audiogram, and adequate fund of knowledge of common types of genetic deafness, the pediatrician can make a timely diagnosis and appropriate referrals. This avoids delay in detection of significant hearing impairment and the associated lack of essential skills in speech, language, and social interaction. No child is too young to have some type of hearing assessment. Early detection and intervention are best done with a multidisciplinary team approach with a neonatologist or pediatrician, audiologist, speech therapist, and otolaryngologist. In the future, blood tests using genetic probes may be available to screen for many types of HHI.
    [Abstract] [Full Text] [Related] [New Search]