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Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.

ABSTRACT: In DFNA8/12, an autosomal dominantly inherited type of nonsyndromic hearing impairment, the TECTA gene mutation causes a defect in the structure of the tectorial membrane in the inner ear. Because DFNA8/12 affects the tectorial membrane, patients with DFNA8/12 may show specific audiometric characteristics. In this study, five selected members of a Dutch DFNA8/12 family with a TECTA sensorineural hearing impairment were evaluated with pure-tone audiometry, loudness scaling, speech perception in quiet and noise, difference limen for frequency, acoustic reflexes, otoacoustic emissions, and gap detection. Four out of five subjects showed an elevation of pure-tone thresholds, acoustic reflex thresholds, and loudness discomfort levels. Loudness growth curves are parallel to those found in normal-hearing individuals. Suprathreshold measures such as difference limen for frequency modulated pure tones, gap detection, and particularly speech perception in noise are within the normal range. Distortion otoacoustic emissions are present at the higher stimulus level. These results are similar to those previously obtained from a Dutch DFNA13 family with midfrequency sensorineural hearing impairment. It seems that a defect in the tectorial membrane results primarily in an attenuation of sound, whereas suprathreshold measures, such as otoacoustic emissions and speech perception in noise, are preserved rather well. The main effect of the defects is a shift in the operation point of the outer hair cells with near intact functioning at high levels. As most test results reflect those found in middle-ear conductive loss in both families, the sensorineural hearing impairment may be characterized as a cochlear conductive hearing impairment.

SUBMITTER: Plantinga RF

PROVIDER: S-EPMC2538417 | biostudies-other | 2007 Mar

REPOSITORIES: biostudies-other

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Project description:PurposeAddiction is a major health stressor for families, representing an under-researched area with important policy implications. The current aim was to validate the Composite Codependency Scale, which captures the psychological characteristics of affected family members, and assess quality of life as mediated by family functioning.MethodsClose relatives (n?=?271) of patients in treatment for substance use disorder (SUD) participated in a 4-day psychoeducational program. We also recruited a general population sample (n?=?393) via an online social media site. Data were analyzed using multigroup confirmatory factor analysis (MGCFA) and a latent regression model. Differences in subscale latent means were applied to ascertain how the scale discriminated the two populations.ResultsMGCFA yielded a shortened, nine-item partial scalar invariant scale (SCCS) that allowed comparison of latent means. The SCCS discriminated between family members and the general population, with family scoring higher on all three scale dimensions. By effect size, family had higher means (mean differences; 95% confidence intervals) for 'emotional suppression' (0.48; 0.36-0.59; p?<?0.001; effect size, 0.92), 'interpersonal control' (0.47; 0.36-0.59; p?<?0.001; effect size, 0.97), and 'self-sacrifice' (0.20; 0.10-0.29; p?<?0.001; effect size, 0.43). Higher SCCS scores were associated with greater family dysfunction (??=?1.00, 95% CI 0.63-1.36; p?<?0.001) and worse quality of life (??=?-?0.23, 95% CI -?0.30 to -?0.16; p?<?0.001), confirming the concurrent validity of the SCCS.ConclusionWhen family members of people with addictions had the psychological characteristics of suppressing their emotions, believing they could fix others' problems, and neglecting their own for others' needs, they also had more family dysfunction and poorer quality of life. The SCCS offers a valid instrument for addressing the life situation of affected families. This scale can help clinicians focus on family members within health services, especially within SUD treatment services.

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Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.

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