Purpose. The adult myopathy assessment tool (AMAT) is a performance-based battery comprised of functional and endurance subscales that can be completed in approximately 30 minutes without the use of specialized equipment. The purpose of this study was to determine the construct validity and internal consistency of the AMAT with a sample of adults with spinal and bulbar muscular atrophy (SBMA). Methods. AMAT validity was assessed in 56-male participants with genetically confirmed SBMA (mean age, 53 ± 10 years). The participants completed the AMAT and assessments for disease status, strength, and functional status. Results. Lower AMAT scores were associated with longer disease duration (r = −0.29; P < 0.03) and lower serum androgen levels (r = 0.49–0.59; P < 0.001). The AMAT was significantly correlated with strength and functional status (r = 0.82–0.88; P < 0.001). The domains of the AMAT exhibited good internal consistency (Cronbach's α = 0.77–0.89; P < 0.001). Conclusions. The AMAT is a standardized, performance-based tool that may be used to assess functional limitations and muscle endurance. The AMAT has good internal consistency, and the construct validity of the AMAT is supported by its significant associations with hormonal, strength, and functional characteristics of adults with SBMA. This trial is registered with Clinicaltrials.gov identifier NCT00303446.
Genetic testing can provide useful information related to a person’s health history. Adoptees who lack access to family health history due to inherent separation from their birth family are among those likely to benefit from this. Understanding their attitudes, including their hopes and concerns, will allow for better informed and more appropriate applications of genetic testing within this population and will help guide genetic counselling for adult adoptees. This qualitative study, involving four focus groups totalling 17 participants, examined adult adoptees’ attitudes that might influence decision-making around genetic testing. Using the NVivo 10 data analysis method, transcripts were content and thematically coded for: motivations for positive interest in genetic testing/genome sequencing; reasons for lack of interest or uncertainty about genetic testing/genome sequencing; and mixed feelings or overlapping positive and negative comments by the same individual in the same train of thought. Other studies have examined adoptive parents’ attitudes towards genetic testing, but this is the first to give voice to adoptees themselves. The results indicate that while adult adoptees’ attitudes about genetic testing appear to be similar to that of other laypeople, they reported unique concerns and perspectives regarding its potential use and their motivations and deterrents for pursuing it.
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