Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations. / Solovyev, Aisen V.; Dzhemileva, Lilya U.; Posukh, Olga L. и др.
в: Journal of Community Genetics, Том 8, № 3, 01.07.2017, стр. 167-171.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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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 -
ID: 10268965