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Absolute pitch exhibits phenotypic and genetic overlap with synesthesia.

ABSTRACT: 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.

SUBMITTER: Gregersen PK

PROVIDER: S-EPMC4707203 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature

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Absolute pitch exhibits phenotypic and genetic overlap with synesthesia.

Gregersen Peter K PK Kowalsky Elena E Lee Annette A Baron-Cohen Simon S Fisher Simon E SE Asher Julian E JE Ballard David D Freudenberg Jan J Li Wentian W

Human molecular genetics 20130212 10

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 methodolo ...[more]

PMID: 23406871

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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.

Project description:BackgroundAutism, a childhood behavioral disorder, belongs to a large suite of diseases, collectively referred to as autism spectrum disorders (ASD). Though multifactorial in etiology, approximately 10% of ASD are associated with atopic dermatitis (AD). Moreover, ASD prevalence increases further as AD severity worsens, though these disorders share no common causative mutations. We assessed here the link between these two disorders in the standard, valproic acid mouse model of ASD. In prior studies, there was no evidence of skin involvement, but we hypothesized that cutaneous involvement could be detected in experiments conducted in BALB/c mice. BALB/c is an albino, laboratory-bred strain of the house mouse and is among the most widely used inbred strains used in animal experimentation.MethodsWe performed our studies in valproic acid (VPA)-treated BALB/c hairless mice, a standard mouse model of ASD. Mid-trimester pregnant mice received a single intraperitoneal injection of either valproic acid sodium salt dissolved in saline or saline alone on embryonic day 12.5 and were housed individually until postnatal day 21. Only the brain and epidermis appeared to be affected, while other tissues remain unchanged. At various postnatal time points, brain, skin and blood samples were obtained for histology and for quantitation of tissue sphingolipid content and cytokine levels.ResultsAD-like changes in ceramide content occurred by day one postpartum in both VPA-treated mouse skin and brain. The temporal co-emergence of AD and ASD, and the AD phenotype-dependent increase in ASD prevalence correlated with early appearance of cytokine markers (i.e., interleukin [IL]-4, 5, and 13), as well as mast cells in skin and brain. The high levels of interferon (IFN)γ not only in skin, but also in brain likely account for a significant decline in esterified very-long-chain N-acyl fatty acids in brain ceramides, again mimicking known IFNγ-induced changes in AD.ConclusionBaseline involvement of both AD and ASD could reflect concurrent neuro- and epidermal toxicity, possibly because both epidermis and neural tissues originate from the embryonic neuroectoderm. These studies illuminate the shared susceptibility of the brain and epidermis to a known neurotoxin, suggesting that the atopic diathesis could be extended to include ASD.

Dataset Information

Absolute pitch exhibits phenotypic and genetic overlap with synesthesia.

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Absolute pitch exhibits phenotypic and genetic overlap with synesthesia.

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