TY - JOUR

T1 - Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations

AU - Solovyev, Aisen V.

AU - Dzhemileva, Lilya U.

AU - Posukh, Olga L.

AU - Barashkov, Nikolay A.

AU - Bady-Khoo, Marita S.

AU - Lobov, Semen L.

AU - Popova, Natalya Yu

AU - Romanov, Georgii P.

AU - Sazonov, Nikolay N.

AU - Bondar, Alexander A.

AU - Morozov, Igor V.

AU - Tomsky, Mikhail I.

AU - Fedorova, Sardana A.

AU - Khusnutdinova, Elza K.

N1 - Publisher Copyright: © 2017, Springer-Verlag Berlin Heidelberg.

PY - 2017/7/1

Y1 - 2017/7/1

N2 - Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the genetic aspects. The concerns expressed by individuals from groups with genetic risks must be included in the counseling of patients and their families. For evaluation of subjective opinions of hearing parents about the presumed causes of HI of their children, we analyze the cohort of parents having children with confirmed hereditary HI caused by biallelic recessive GJB2 mutations (in a homozygous or a compound heterozygous state). This study included 70 deaf children with HI due to mutations in the GJB2 gene and 91 questionnaires about the presumed causes of their deafness filled by their parents. Most of the parents at 78% (CI 68.4–85.4%) attributed their children’s HI to “non-hereditary” causes and 22% (CI 14.7–31.6%) to “hereditary” causes (p < 0.05). Therefore, the prior opinions of the parents did not correspond to positive GJB2 genetic testing results. The subjective opinions of parents are probably partly based on family history, since respondents with deaf relatives in their pedigree more likely supposed hereditary causes for HI in their children than the respondents without deaf relatives (p < 0.001).

AB - Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the genetic aspects. The concerns expressed by individuals from groups with genetic risks must be included in the counseling of patients and their families. For evaluation of subjective opinions of hearing parents about the presumed causes of HI of their children, we analyze the cohort of parents having children with confirmed hereditary HI caused by biallelic recessive GJB2 mutations (in a homozygous or a compound heterozygous state). This study included 70 deaf children with HI due to mutations in the GJB2 gene and 91 questionnaires about the presumed causes of their deafness filled by their parents. Most of the parents at 78% (CI 68.4–85.4%) attributed their children’s HI to “non-hereditary” causes and 22% (CI 14.7–31.6%) to “hereditary” causes (p < 0.05). Therefore, the prior opinions of the parents did not correspond to positive GJB2 genetic testing results. The subjective opinions of parents are probably partly based on family history, since respondents with deaf relatives in their pedigree more likely supposed hereditary causes for HI in their children than the respondents without deaf relatives (p < 0.001).

KW - Genetic testing

KW - GJB2 gene

KW - Hereditary hearing impairment

KW - Opinions of the parents

UR - http://www.scopus.com/inward/record.url?scp=85015740511&partnerID=8YFLogxK

U2 - 10.1007/s12687-017-0299-3

DO - 10.1007/s12687-017-0299-3

M3 - Article

C2 - 28324246

AN - SCOPUS:85015740511

VL - 8

SP - 167

EP - 171

JO - Journal of Community Genetics

JF - Journal of Community Genetics

SN - 1868-310X

IS - 3

ER -