bioRxiv Preprint Review: Congenital Amusia May be an Autosomal-Dominantly-Inherited Trait

From the BioRxiv preprint server comes an interesting study of tone deafness, or amusia. The researchers found an incidence of about 1.5% in their French or English speaking population (with whatever biases accompany such surveys). They report a 46% concordance in first degree relatives, which fits autosomal dominant (with incomplete penetrance and/or reporting) inheritance pretty well and agrees with a prior Italian twin-based study. There are no DNA mapping or chromosomal site linkage studies as of yet, though.

The survey is still available online here (link), though it is no longer taking subjects.

---------------------------------------------------

ABSTRACT

Prevalence of Congenital Amusia

Isabelle Peretz, Dominique Vuvan

doi: http://dx.doi.org/10.1101/070961

Abstract

Congenital amusia (commonly known as tone-deafness) is a lifelong musical disorder that should affect 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20,000 participants that does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5% with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, that suggests that congenital amusia is hereditary with 46% first-degree relatives similarly affected; c) that the deficit is not attenuated by musical training and d) it emerges in relative isolation from other cognitive disorder except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

No comments:

Post a Comment

Prospective Study: Concussion Affects Menstrual Patterns in Adolescent and Young Women

Severe traumatic brain injury is a well-documented cause of secondary amenorrhea (lack of menstrual periods after menses has begun) in y...