Editorial

EDITORIAL Genetics is the leading cause of deafness in children and possibly in adults. Often it is associated with other serious conditions such as kidney disorders, visual impairment, orthopedic problems, and pigmentary anomalies. Because there are over 2,000 known genetic disorders including about a hundred forms of hereditary deafness, physicians often overlook them. It is impossible for doctors to be familiar with such a wide variety of diseases. In deafness, the results can be tragic. For example, avoidable complications are not prevented, genetic counseling is not done, and future plans are made without knowledge of medical issues associated with certain forms of hearing loss. In this issue of the Annals two articles present basic information on genetics and hearing. Another reports on a screening program in schools for a genetic disorder, Ushers syndrome . The reason for this emphasis on genetics and screening is the hope that non-medical professionals in deafness will become familiar with the major syndromes involving hearing loss. They will then be able to make referrals to physicians in terms of a specific genetic disease. It is easier for audiologists, teachers, psychologists , and others who work with deaf children on a regular basis to become familiar with the common genetic disorders connected with hearing loss than it is to expect the average family practitioner or pediatrician who rarely sees a deaf child to know these specific hereditary diseases related to deafness. Some specific examples will clarify the issue. Jervell and Lange-Nielson syndrome is deafness with an anomaly of heart conduction. The major symptom, other than the EKG pattern, is "fainting spells" or what are sometimes misdiagnosed as seizures. Youth often die of Jervell and LangeNielson syndrome in adolescence or early adulthood unless preventive measures are taken. If professionals in deafness become aware of Jervell and Lange-Nielson syndrome, it is easy for them to make a referral to a physician with a specific request to rule Jervell and Lange-Nielson in or out. This can be done based solely on knowing the possible implications of fainting spells in deaf children. Such a referral would assure that the syndrome would be medically identified whereas a general referral for "fainting spells" would be unlikely to result in the correct diagnosis of such a rare disease. The diagnosis of Jervell and Lange-Nielson syndrome is made on the basis of an EKG pattern. Another condition, Klippel-Fiel syndrome, includes a short neck and fused cervical vertebrae as part of the anomaly. Once Klippel-Fiel is diagnosed there is a high probability that a curvature of the spine will be present. The spinal problem, if present, should be treated before puberty or else it can become severely disabling. In sum, the emphasis on genetics and deafness in this issue of the Annals is intended to alert non-medical professionals in deafness to the major genetic syndromes involving hearing loss in order that they may make appropriate specific referrals to physicians for medical diagnosis . The end result could be the prevention of serious secondary disabilities, or in some cases death, in deaf children. McCay Vernon Editor ADMINISTRATORS—SCHOOLS AND PROGRAMS FOR THE DEAF As you probably know, the April (Reference) Issue of the American Annals of the Deaf is a valuable reference in the field of deafness. It includes a listing of U.S. and Canadian schools and classes for the deaf with accompanying contact and demographic information, as well as listings of teacher training programs, services and programs for the deaf, and current research on deafness. We would like to include your program in the 1983 Reference Issue. If your program is on our mailing list, you will be receiving a questionnaire on September 1st. Please complete and return your form by October 15th so we can meet our printer's deadline. If you are not on our mailing list, please send us your address so that we can add your program and send you a questionnaire. Thank you for helping us make the Reference Issue as complete and accurate as possible. 392 A.A.D. /August 1982 ...