Familial aggregation of absolute pitch.
Ontology highlight
ABSTRACT:
SUBMITTER: Baharloo S
PROVIDER: S-EPMC1287535 | biostudies-literature | 2000 Sep
REPOSITORIES: biostudies-literature
Publications
Familial aggregation of absolute pitch.
Baharloo S S Service S K SK Risch N N Gitschier J J Freimer N B NB
American journal of human genetics 20000731 3
Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal phenotype for investigation of gene and environment interactions in the development of complex human behaviors. Individuals who score exceptionally well on formalized auditory tests of pitch perception are designated as "AP-1." As described in this report, auditory testing of siblings of AP-1 probands and of a control sample indicates that AP ...[more]
Similar Datasets
Project description:While absolute pitch (AP)-the ability to name musical pitches globally and without reference-is rare in expert musicians, anecdotal evidence suggests that some musicians may better identify pitches played on their primary instrument than pitches played on other instruments. We call this phenomenon "instrument-specific absolute pitch" (ISAP). In this paper we present a theory of ISAP. Specifically, we offer the hypothesis that some expert musicians without global AP may be able to more accurately identify pitches played on their primary instrument(s), and we propose timbral cues and articulatory motor imagery as two underlying mechanisms. Depending on whether informative timbral cues arise from performer- or instrument-specific idiosyncrasies or from timbre-facilitated tonotopic representations, we predict that performance may be enhanced for notes played by oneself, notes played on one's own personal instrument, and/or notes played on any exemplar of one's own instrument type. Sounds of one's primary instrument may moreover activate kinesthetic memory and motor imagery, aiding pitch identification. In order to demonstrate how our theory can be tested, we report the methodology and analysis of two exemplary experiments conducted on two case-study participants who are professional oboists. The aim of the first experiment was to determine whether the oboists demonstrated ISAP ability, while the purpose of the second experiment was to provide a preliminary investigation of the underlying mechanisms. The results of the first experiment revealed that only one of the two oboists showed an advantage for identifying oboe tones over piano tones. For this oboist demonstrating ISAP, the second experiment demonstrated that pitch-naming accuracy decreased and variance around the correct pitch value increased as an effect of transposition and motor interference, but not of instrument or performer. These preliminary data suggest that some musicians possess ISAP while others do not. Timbral cues and motor imagery may both play roles in the acquisition of this ability. Based on our case study findings, we provide methodological considerations and recommendations for future empirical testing of our theory of ISAP.
| S-EPMC7642881 | biostudies-literature
Project description:To date, the underlying cognitive and neural mechanisms of absolute pitch (AP) have remained elusive. In the present fMRI study, we investigated verbal and tonal perception and working memory in musicians with and without absolute pitch. Stimuli were sine wave tones and syllables (names of the scale tones) presented simultaneously. Participants listened to sequences of five stimuli, and then rehearsed internally either the syllables or the tones. Finally participants indicated whether a test stimulus had been presented during the sequence. For an auditory stroop task, half of the tonal sequences were congruent (frequencies of tones corresponded to syllables which were the names of the scale tones) and half were incongruent (frequencies of tones did not correspond to syllables). Results indicate that first, verbal and tonal perception overlap strongly in the left superior temporal gyrus/sulcus (STG/STS) in AP musicians only. Second, AP is associated with the categorical perception of tones. Third, the left STG/STS is activated in AP musicians only for the detection of verbal-tonal incongruencies in the auditory stroop task. Finally, verbal labelling of tones in AP musicians seems to be automatic. Overall, a unique feature of AP appears to be the similarity between verbal and tonal perception.
| S-EPMC6870281 | biostudies-literature
Project description:Absolute pitch (AP) and synesthesia are two uncommon cognitive traits that reflect increased neuronal connectivity and have been anecdotally reported to occur together in an individual. Here we systematically evaluate the occurrence of synesthesia in a population of 768 subjects with documented AP. Out of these 768 subjects, 151 (20.1%) reported synesthesia, most commonly with color. These self-reports of synesthesia were validated in a subset of 21 study subjects, using an established methodology. We further carried out combined linkage analysis of 53 multiplex families with AP and 36 multiplex families with synesthesia. We observed a peak NPL LOD = 4.68 on chromosome 6q, as well as evidence of linkage on chromosome 2, using a dominant model. These data establish the close phenotypic and genetic relationship between AP and synesthesia. The chromosome 6 linkage region contains 73 genes; several leading candidate genes involved in neurodevelopment were investigated by exon resequencing. However, further studies will be required to definitively establish the identity of the causative gene(s) in the region.
| S-EPMC4707203 | biostudies-literature
Project description:Musicians with absolute pitch (AP) can name the pitch of a musical note in isolation. Expression of this unusual ability is thought to be influenced by heritability, early music training and current practice. However, our understanding of factors shaping its expression is hampered by testing and scoring methods that treat AP as dichotomous. These fail to capture the observed variability in pitch-naming accuracy among reported AP possessors. The aim of this study was to trial a novel explicit priming paradigm to explore phenotypic variability of AP. Thirty-five musically experienced individuals (Mage = 29 years, range 18-68; 14 males) with varying AP ability completed a standard AP task and the explicit priming AP task. Results showed: 1) phenotypic variability of AP ability, including high-accuracy AP, heterogeneous intermediate performers, and chance-level performers; 2) intermediate performance profiles that were either reliant on or independent of relative pitch strategies, as identified by the priming task; and 3) the emergence of a bimodal distribution of AP performance when adopting scoring criteria that assign credit to semitone errors. These findings show the importance of methods in studying behavioural traits, and are a key step towards identifying AP phenotypes. Replication of our results in larger samples will further establish the usefulness of this priming paradigm in AP research.
| S-EPMC9473427 | biostudies-literature
Project description:Recent evidence suggests that musicians may have an advantage over non-musicians in perceiving speech against noisy backgrounds. Previously, musicians have been compared as a homogenous group, despite demonstrated heterogeneity, which may contribute to discrepancies between studies. Here, we investigated whether "quasi"-absolute pitch (AP) proficiency, viewed as a general trait that varies across a spectrum, accounts for the musician advantage in hearing-in-noise (HIN) performance, irrespective of whether the streams are speech or musical sounds. A cohort of 12 non-musicians and 42 trained musicians stratified into high, medium, or low AP proficiency identified speech or melody targets masked in noise (speech-shaped, multi-talker, and multi-music) under four signal-to-noise ratios (0, - 3, - 6, and - 9 dB). Cognitive abilities associated with HIN benefits, including auditory working memory and use of visuo-spatial cues, were assessed. AP proficiency was verified against pitch adjustment and relative pitch tasks. We found a domain-specific effect on HIN perception: quasi-AP abilities were related to improved perception of melody but not speech targets in noise. The quasi-AP advantage extended to tonal working memory and the use of spatial cues, but only during melodic stream segregation. Overall, the results do not support the putative musician advantage in speech-in-noise perception, but suggest a quasi-AP advantage in perceiving music under noisy environments.
| S-EPMC9521875 | biostudies-literature
Project description:True absolute pitch (AP), labeling of pitches with semitone precision without a reference, is classically studied using isolated tones. However, AP is acquired and has its function within complex dynamic musical contexts. Here we examined event-related brain responses and underlying cerebral sources to endings of short expressive string quartets, investigating a homogeneous population of young highly trained pianists with half of them possessing true-AP. The pieces ended regularly or contained harmonic transgressions at closure that participants appraised. Given the millisecond precision of ERP analyses, this experimental plan allowed examining whether AP alters music processing at an early perceptual, or later cognitive level, or both, and which cerebral sources underlie differences with non-AP musicians. We also investigated the impact of AP on general auditory cognition. Remarkably, harmonic transgression sensitivity did not differ between AP and non-AP participants, and differences for auditory cognition were only marginal. The key finding of this study is the involvement of a microstate peaking around 60 ms after musical closure, characterizing AP participants. Concurring sources were estimated in secondary auditory areas, comprising the planum temporale, all transgression conditions collapsed. These results suggest that AP is not a panacea to become a proficient musician, but a rare perceptual feature.
| S-EPMC6424903 | biostudies-literature
Project description:Absolute pitch (AP) is known as the ability to recognize and label the pitch chroma of a given tone without external reference. Known brain structures and functions related to AP are mainly of macroscopic aspects. To shed light on the underlying neural mechanism of AP, we investigated the intracortical myeloarchitecture in musicians with and without AP using the quantitative mapping of the longitudinal relaxation rates with ultra-high-field magnetic resonance imaging at 7 T. We found greater intracortical myelination for AP musicians in the anterior region of the supratemporal plane, particularly the medial region of the right planum polare (PP). In the same region of the right PP, we also found a positive correlation with a behavioral index of AP performance. In addition, we found a positive correlation with a frequency discrimination threshold in the anterolateral Heschl's gyrus in the right hemisphere, demonstrating distinctive neural processes of absolute recognition and relative discrimination of pitch. Regarding possible effects of local myelination in the cortex and the known importance of the anterior superior temporal gyrus/sulcus for the identification of auditory objects, we argue that pitch chroma may be processed as an identifiable object property in AP musicians. Hum Brain Mapp 37:3486-3501, 2016. © 2016 Wiley Periodicals, Inc.
| S-EPMC5084814 | biostudies-literature
Project description:Absolute pitch (AP) is the ability to recognize pitch chroma of tonal sound without external references, providing a unique model of the human auditory system (Zatorre: Nat Neurosci 6 () 692-695). In a previous study (Kim and Knösche: Hum Brain Mapp () 3486-3501), we identified enhanced intracortical myelination in the right planum polare (PP) in musicians with AP, which could be a potential site for perceptional processing of pitch chroma information. We speculated that this area, which initiates the ventral auditory pathway, might be crucially involved in the perceptual stage of the AP process in the context of the "dual pathway hypothesis" that suggests the role of the ventral pathway in processing nonspatial information related to the identity of an auditory object (Rauschecker: Eur J Neurosci 41 () 579-585). To test our conjecture on the ventral pathway, we investigated resting state functional connectivity (RSFC) using functional magnetic resonance imaging (fMRI) from musicians with varying degrees of AP. Should our hypothesis be correct, RSFC via the ventral pathway is expected to be stronger in musicians with AP, whereas such group effect is not predicted in the RSFC via the dorsal pathway. In the current data, we found greater RSFC between the right PP and bilateral anteroventral auditory cortices in musicians with AP. In contrast, we did not find any group difference in the RSFC of the planum temporale (PT) between musicians with and without AP. We believe that these findings support our conjecture on the critical role of the ventral pathway in AP recognition. Hum Brain Mapp 38:3899-3916, 2017. © 2017 Wiley Periodicals, Inc.
| S-EPMC6866733 | biostudies-literature
Project description:This registry-linkage study evaluates familial aggregation of cancer among relatives of a population-based series of early-onset (?40?years) cancer patients in Finland. A cohort of 376,762 relatives of early-onset cancer patients diagnosed between 1970 and 2012 in 40,538 families was identified. Familial aggregation of early-onset breast, colorectal, brain and other central nervous system (CNS) cancer and melanoma was explored by standardized incidence ratios (SIR), stratified by relatedness. Gender-, age- and period-specific population cancer incidences were used as reference. Cumulative risks for siblings and offspring of the proband up to age ?40?years were also estimated. Almost all early-onset cancers were sporadic (98% or more). Among first-degree relatives, SIR was largest in colorectal cancer (14, 95% confidence interval 9.72-18), and lowest in melanoma (1.93, 1.05-3.23). Highest relative-specific SIRs were observed for siblings in families, where also parent had concordant cancer, 90 (43-165) for colorectal cancer and 29 (11-64) for CNS cancer. In spouses, all SIRs were at population level. Cumulative risk of colorectal cancer by age 41 was 0.98% in siblings and 0.10% in population, while in breast cancer the corresponding risks were 2.05% and 0.56%. In conclusion, early-onset cancers are mainly sporadic. Findings support high familial aggregation in early-onset colorectal and CNS cancers. Familial aggregation in multiplex families with CNS cancers was mainly attributed to neurofibromatosis and in colorectal cancer to FAP- and HNPCC-syndromes. The pattern of familial aggregation of early-onset breast cancer could be seen to support very early exposure to environmental factors and/or rare genetic factors.
| S-EPMC7027840 | biostudies-literature
Project description:ObjectiveTo evaluate inheritance patterns and define the familial clustering rate of idiopathic subglottic stenosis (iSGS).Study designRetrospective observational study.SettingInternational multicenter collaborative of >30 tertiary care centers.MethodsPatients with a clinically confirmed iSGS diagnosis within the North American Airway Collaborative's iSGS1000 cohort consented between 2014 and 2018 were eligible for enrollment. Patient demographics and disease severity were abstracted from the collaborative's iSGS longitudinal registry. Pedigrees of affected families were created.ResultsA total of 810 patients with iSGS were identified. Positive family history for iSGS was reported in 44 patients in 20 families. The rate of familial clustering in iSGS is 2.5%. Mean age of disease onset is 42.6 years. Of the 44 patients with familial aggregation of iSGS, 42 were female and 2 were male; 13 were mother-daughter pairs and 2 were father-daughter pairs. There were 3 sister-sister pairs. There was 1 niece-aunt pair and 2 groups of 3 family members. One pedigree demonstrated 2 affected mother-daughter pairs, with the mothers being first-degree paternal cousins. Inheritance is non-Mendelian, and anticipation is present in 11 of 13 (84%) parent-offspring pairs. The mean age of onset between parents (48.4 years) and offspring (36.1 years) was significantly different (P = .016).ConclusionThis study quantifies the rate of familial clustering of iSGS at 2.5%. Inheritance is non-Mendelian, and disease demonstrates anticipation. These data suggest that there may be a genetic contribution in iSGS.
| S-EPMC7809487 | biostudies-literature