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1.
Biochimie ; 2024 Oct 04.
Article in English | MEDLINE | ID: mdl-39369940

ABSTRACT

Obesity increases the risk and mortality of breast cancer through dysregulated secretion of proinflammatory cytokines and tumor adipokines that induce an inflammatory breast microenvironment. Resistin is an adipokine secreted by adipocytes, immune cells, and predominantly macrophages, which contributes to cancer progression, but its molecular mechanism in cancer is not completely described. In this study, we analyzed the relationship of resistin on breast cancer prognosis and tumor progression and the effect in vitro of resistin on p38 and ERK1/2 activation in breast cancer cell lines. By bioinformatic analysis, we found that resistin is overexpressed in the basal subtype triple-negative breast cancer and is related to poor prognosis. In addition, we demonstrated a positive correlation between RETN and MAPK3 expression in basal triple-negative breast cancer. Importantly, we found amplifications of the RETN gene in at least 20 % of metastatic samples from patients with breast cancer. Most samples with RETN amplifications metastasized to bone and showed high expression of IL-8 (CXCL8) and IL-6 (IL6). Finally, resistin could be considered a prognostic marker for basal triple-negative breast cancer, and we also proposed the possibility that resistin-induced cell migration involves the activation of MAPK in breast cancer cells.

2.
eNeuro ; 2024 Oct 14.
Article in English | MEDLINE | ID: mdl-39401929

ABSTRACT

In the presence of temporally organized stimuli, there is a tendency to entrain to the beat, even at the neurological level. Previous research has shown that when adults listen to rhythmic stimuli and are asked to imagine the beat, their neural responses are the same as when the beat is physically accented. The current study explores the neural processing of simple beat structures where the beat is physically accented or inferred from a previously presented physically accented beat structure in a passive listening context. We further explore the associations of these neural correlates with behavioral and self-reported measures of musicality. Fifty-seven participants completed a passive listening EEG paradigm, a behavioral rhythm discrimination task, and a self-reported musicality questionnaire. Our findings suggest that when the beat is physically accented individuals demonstrate distinct neural responses to the beat in the beta (13-23 Hz) and gamma (24-50Hz) frequency bands. We further find that the neural marker in the beta band is associated with individuals' self-reported musical perceptual abilities. Overall, this study provides insights into the neural correlates of spontaneous beat processing, and its connections with musicality.Significance statement Humans possess the remarkable ability to perceive the beat in musical pieces, with neural oscillations suggested to play a key role. While most previous research has focused on beat processing during active attention to stimuli, the mechanisms underlying spontaneous beat perception remain less understood. Furthermore, the link between neural markers of beat processing and both self-reported musicality and behavioral measures of beat perception has been scarcely investigated. Our study demonstrates that spontaneous beat processing shares similar neural correlates with active listening when the beat is acoustically marked. Moreover, our results indicate a connection between these neural markers and self-reported musicality, expanding our understanding of the neural bases of musical rhythm perception.

3.
Audit Percept Cogn ; 7(3): 179-202, 2024.
Article in English | MEDLINE | ID: mdl-39391629

ABSTRACT

Introduction: The speech-to-song illusion is a robust effect where repeated speech induces the perception of singing; this effect has been extended to repeated excerpts of environmental sounds (sound-to-music effect). Here we asked whether repetition could elicit musical percepts in cochlear implant (CI) users, who experience challenges with perceiving music due to both physiological and device limitations. Methods: Thirty adult CI users and thirty age-matched controls with normal hearing (NH) completed two repetition experiments for speech and nonspeech sounds (water droplets). We hypothesized that CI users would experience the sound-to-music effect from temporal/rhythmic cues alone, but to a lesser magnitude compared to NH controls, given the limited access to spectral information CI users receive from their implants. Results: We found that CI users did experience the sound-to-music effect but to a lesser degree compared to NH participants. Musicality ratings were not associated with musical training or frequency resolution, and among CI users, clinical variables like duration of hearing loss also did not influence ratings. Discussion: Cochlear implants provide a strong clinical model for disentangling the effects of spectral and temporal information in an acoustic signal; our results suggest that temporal cues are sufficient to perceive the sound-to-music effect when spectral resolution is limited. Additionally, incorporating short repetitions into music specially designed for CI users may provide a promising way for them to experience music.

4.
bioRxiv ; 2024 Sep 09.
Article in English | MEDLINE | ID: mdl-39314312

ABSTRACT

Early-life musical engagement is an understudied but developmentally important and heritable precursor of later (social) communication and language abilities. This study aims to uncover the aetiological mechanisms linking musical to communication abilities. We derived polygenic scores (PGS) for self-reported beat synchronisation abilities (PGSrhythmicity) in children (N≤6,737) from the Avon Longitudinal Study of Parents and Children and tested their association with preschool musical (0.5-5 years) and school-age (social) communication and cognition-related abilities (9-12 years). We further assessed whether relationships between preschool musicality and school-age communication are shared through PGSrhythmicity, using structural equation modelling techniques. PGSrhythmicity were associated with preschool musicality (Nagelkerke-R2=0.70-0.79%), and school-age communication and cognition-related abilities (R2=0.08-0.41%), but not social communication. We identified links between preschool musicality and school-age speech- and syntax-related communication abilities as captured by known genetic influences underlying rhythmicity (shared effect ß=0.0065(SE=0.0021), p=0.0016), above and beyond general cognition, strengthening support for early music intervention programmes.

5.
Curr Biol ; 34(6): R233-R234, 2024 03 25.
Article in English | MEDLINE | ID: mdl-38531312

ABSTRACT

Rapid advances over the last decade in DNA sequencing and statistical genetics enable us to investigate the genomic makeup of individuals throughout history. In a recent notable study, Begg et al.1 used Ludwig van Beethoven's hair strands for genome sequencing and explored genetic predispositions for some of his documented medical issues. Given that it was arguably Beethoven's skills as a musician and composer that made him an iconic figure in Western culture, we here extend the approach and apply it to musicality. We use this as an example to illustrate the broader challenges of individual-level genetic predictions.


Subject(s)
Deafness , Famous Persons , Music , Humans , Male , Genomics , Hair , Genetic Predisposition to Disease , Germany
6.
Animals (Basel) ; 14(6)2024 Mar 21.
Article in English | MEDLINE | ID: mdl-38540070

ABSTRACT

Exposure to heat stress (HS) detrimentally affects pig performance. This study explored whether a dietary phytogenic solution based on Capsicum spp. (PHY) could enhance the thermal tolerance of heat-stressed growing pigs. Forty-two individually housed pigs were randomly assigned to three treatments: thermoneutral pigs on a control diet (TN-C) and pigs subjected to HS fed the control diet either without (HS-C) or with supplemental PHY (HS-PHY). The TN-C group exhibited increased average daily gain (ADG) and feed intake (FI) compared to both HS-C (p < 0.01) and HS-PHY pigs (p < 0.05) and better feed efficiency compared to HS-C pigs only (p < 0.01). However, the HS-PHY pigs showed significantly higher FI (p < 0.01) and ADG (p < 0.05) compared to HS-C pigs. HS pigs displayed higher body temperatures (BTs) than TN pigs (p < 0.01), yet HS-PHY pigs experienced a lesser increase in BT compared to HS-C pigs (p < 0.05). Supplementation with PHY mitigated some effects of HS, increasing serum superoxide dismutase and catalase activity, reducing HSP90 expression in longissimus dorsi muscle, and elevating jejunal villus height compared to HS-C pigs (p < 0.05), reaching levels akin to TN-C pigs. Additionally, PHY supplementation resulted in lower serum urea levels than HS-C pigs (p < 0.01) and similar myosin gene expression to TN-C pigs (p > 0.1), suggesting enhanced amino acid post-absorptive utilization for lean tissue growth. In conclusion, dietary PHY supplementation partially offset the adverse effects of HS on pig performance by improving thermal tolerance.

7.
Food Res Int ; 176: 113822, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38163722

ABSTRACT

Tomato fruit is susceptible to chilling injury (CI) during its postharvest handling at low temperature. The symptoms caused by this physiological disorder have been commonly evaluated by visual inspection at a macro-observation scale on fruit surface; however, the structure at deeper scales is also affected by CI. This work aimed to propose a descriptive model of the CI development in tomato tissue under the micro-scale, micro-nano-scale and nano-scale approaches using fractal analysis. For that, quality and fractal parameters were determined. In this sense, light microscopy, Environmental Scanning Electron Microscopy (ESEM) and Atomic Force Microscopy (AFM) were applied to analyse micro-, micro-nano- and nano-scales, respectively. Results showed that the morphology of tomato tissue at the micro-scale level was properly described by the multifractal behaviour. Also, generalised fractal dimension (Dq=0) and texture fractal dimension (FD) of CI-damaged pericarp and cuticle were higher (1.659, 1.601 and 1.746, respectively) in comparison to non-chilled samples (1.606, 1.578 and 1.644, respectively); however, FD was unsuitable to detect morphological changes at the nano-scale. On the other hand, lacunarity represented an appropriate fractal parameter to detect CI symptoms at the nano-scale due to differences observed between damaged and regular ripe tissue (0.044 and 0.025, respectively). The proposed multi-scale approach could improve the understanding of CI as a complex disorder to the development of novel techniques to avoid this postharvest issue at different observation scales.


Subject(s)
Solanum lycopersicum , Fruit/chemistry , Cold Temperature
8.
bioRxiv ; 2023 Nov 02.
Article in English | MEDLINE | ID: mdl-37961248

ABSTRACT

Rhythm and language-related traits are phenotypically correlated, but their genetic overlap is largely unknown. Here, we leveraged two large-scale genome-wide association studies performed to shed light on the shared genetics of rhythm (N=606,825) and dyslexia (N=1,138,870). Our results reveal an intricate shared genetic and neurobiological architecture, and lay groundwork for resolving longstanding debates about the potential co-evolution of human language and musical traits.

9.
Brain Lang ; 246: 105345, 2023 11.
Article in English | MEDLINE | ID: mdl-37994830

ABSTRACT

Based on the idea that neural entrainment establishes regular attentional fluctuations that facilitate hierarchical processing in both music and language, we hypothesized that individual differences in syntactic (grammatical) skills will be partly explained by patterns of neural responses to musical rhythm. To test this hypothesis, we recorded neural activity using electroencephalography (EEG) while children (N = 25) listened passively to rhythmic patterns that induced different beat percepts. Analysis of evoked beta and gamma activity revealed that individual differences in the magnitude of neural responses to rhythm explained variance in six-year-olds' expressive grammar abilities, beyond and complementarily to their performance in a behavioral rhythm perception task. These results reinforce the idea that mechanisms of neural beat entrainment may be a shared neural resource supporting hierarchical processing across music and language and suggest a relevant marker of the relationship between rhythm processing and grammar abilities in elementary-school-age children, previously observed only behaviorally.


Subject(s)
Individuality , Music , Humans , Child , Auditory Perception/physiology , Linguistics , Electroencephalography , Language
10.
3 Biotech ; 13(11): 356, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37814639

ABSTRACT

This study aimed to determine the production parameters of five strains of Pleurotus spp. during their cultivation on agave Comiteco bagasse, as well as the feasibility of using cellulolytic extracts to produce reducing sugars in the same bagasse. After cultivation, the basidiome production parameters varied between 41.2 and 65.7% (biological efficiency), 0.17 and 0.30 (yield), 0.60 and 0.90% (production rate), 16.4 and 41.1% (Bioconversion) and 9.4 and 21.3 g (mean mushroom weight). At day 15 of growth, P. djamor showed the highest ß-glucosidase activity (43.95 ± 4.5 IU/g); on day 33. The same strain had the highest endoglucanase activity (21.12 ± 0.5 IU/ml). Both extracts were partially purified, and the kinetic parameters Vmax and Km were estimated (20.83 µmole/ml sec and 232.01 µmole/ml for ß-glucosidase and 685.01 µmole/ml sec and 1,240.34 µmole/ml for endoglucanase). In the enzymatic hydrolysis assay, the highest concentration of reducing sugars (43.13 ± 1.09 g/L; 0.21 g/g bagasse) was obtained by a mixture of the two partially purified extracts acting synergistically after 48 h and with a pH adjustment. The results suggest that the use of agave Comiteco bagasse for cultivating edible mushrooms while obtaining cellulolytic extracts is an alternative treatment for waste reduction and valorization of agro-industrial by-products.

11.
NPJ Sci Learn ; 8(1): 23, 2023 Jul 10.
Article in English | MEDLINE | ID: mdl-37429839

ABSTRACT

Recently reported links between rhythm and grammar processing have opened new perspectives for using rhythm in clinical interventions for children with developmental language disorder (DLD). Previous research using the rhythmic priming paradigm has shown improved performance on language tasks after regular rhythmic primes compared to control conditions. However, this research has been limited to effects of rhythmic priming on grammaticality judgments. The current study investigated whether regular rhythmic primes could also benefit sentence repetition, a task requiring proficiency in complex syntax-an area of difficultly for children with DLD. Regular rhythmic primes improved sentence repetition performance compared to irregular rhythmic primes in children with DLD and with typical development-an effect that did not occur with a non-linguistic control task. These findings suggest processing overlap for musical rhythm and linguistic syntax, with implications for the use of rhythmic stimulation for treatment of children with DLD in clinical research and practice.

12.
Neurobiol Lang (Camb) ; 4(1): 1-28, 2023.
Article in English | MEDLINE | ID: mdl-36875176

ABSTRACT

Children with developmental language disorder (DLD) show relative weaknesses on rhythm tasks beyond their characteristic linguistic impairments. The current study compares preferred tempo and the width of an entrainment region for 5- to 7-year-old typically developing (TD) children and children with DLD and considers the associations with rhythm aptitude and expressive grammar skills in the two populations. Preferred tempo was measured with a spontaneous motor tempo task (tapping tempo at a comfortable speed), and the width (range) of an entrainment region was measured by the difference between the upper (slow) and lower (fast) limits of tapping a rhythm normalized by an individual's spontaneous motor tempo. Data from N = 16 children with DLD and N = 114 TD children showed that whereas entrainment-region width did not differ across the two groups, slowest motor tempo, the determinant of the upper (slow) limit of the entrainment region, was at a faster tempo in children with DLD vs. TD. In other words, the DLD group could not pace their slow tapping as slowly as the TD group. Entrainment-region width was positively associated with rhythm aptitude and receptive grammar even after taking into account potential confounding factors, whereas expressive grammar did not show an association with any of the tapping measures. Preferred tempo was not associated with any study variables after including covariates in the analyses. These results motivate future neuroscientific studies of low-frequency neural oscillatory mechanisms as the potential neural correlates of entrainment-region width and their associations with musical rhythm and spoken language processing in children with typical and atypical language development.

13.
Sci Rep ; 13(1): 2201, 2023 02 07.
Article in English | MEDLINE | ID: mdl-36750727

ABSTRACT

A growing number of studies have shown a connection between rhythmic processing and language skill. It has been proposed that domain-general rhythm abilities might help children to tap into the rhythm of speech (prosody), cueing them to prosodic markers of grammatical (syntactic) information during language acquisition, thus underlying the observed correlations between rhythm and language. Working memory processes common to task demands for musical rhythm discrimination and spoken language paradigms are another possible source of individual variance observed in musical rhythm and language abilities. To investigate the nature of the relationship between musical rhythm and expressive grammar skills, we adopted an individual differences approach in N = 132 elementary school-aged children ages 5-7, with typical language development, and investigated prosodic perception and working memory skills as possible mediators. Aligning with the literature, musical rhythm was correlated with expressive grammar performance (r = 0.41, p < 0.001). Moreover, musical rhythm predicted mastery of complex syntax items (r = 0.26, p = 0.003), suggesting a privileged role of hierarchical processing shared between musical rhythm processing and children's acquisition of complex syntactic structures. These relationships between rhythm and grammatical skills were not mediated by prosodic perception, working memory, or non-verbal IQ; instead, we uncovered a robust direct effect of musical rhythm perception on grammatical task performance. Future work should focus on possible biological endophenotypes and genetic influences underlying this relationship.


Subject(s)
Music , Humans , Child , Child, Preschool , Individuality , Language , Linguistics , Memory, Short-Term
14.
Ann N Y Acad Sci ; 1522(1): 5-14, 2023 04.
Article in English | MEDLINE | ID: mdl-36851882

ABSTRACT

New interdisciplinary research into genetic influences on musicality raises a number of ethical and social issues for future avenues of research and public engagement. The historical intersection of music cognition and eugenics heightens the need to vigilantly weigh the potential risks and benefits of these studies and the use of their outcomes. Here, we bring together diverse disciplinary expertise (complex trait genetics, music cognition, musicology, bioethics, developmental psychology, and neuroscience) to interpret and guide the ethical use of findings from recent and future studies. We discuss a framework for incorporating principles of ethically and socially responsible conduct of musicality genetics research into each stage of the research lifecycle: study design, study implementation, potential applications, and communication.


Subject(s)
Bioethics , Cognition , Human Genetics , Music , Humans
15.
Behav Genet ; 53(3): 189-207, 2023 05.
Article in English | MEDLINE | ID: mdl-36757558

ABSTRACT

Music engagement is a powerful, influential experience that often begins early in life. Music engagement is moderately heritable in adults (~ 41-69%), but fewer studies have examined genetic influences on childhood music engagement, including their association with language and executive functions. Here we explored genetic and environmental influences on music listening and instrument playing (including singing) in the baseline assessment of the Adolescent Brain Cognitive Development study. Parents reported on their 9-10-year-old children's music experiences (N = 11,876 children; N = 1543 from twin pairs). Both music measures were explained primarily by shared environmental influences. Instrument exposure (but not frequency of instrument engagement) was associated with language skills (r = .27) and executive functions (r = .15-0.17), and these associations with instrument engagement were stronger than those for music listening, visual art, or soccer engagement. These findings highlight the role of shared environmental influences between early music experiences, language, and executive function, during a formative time in development.


Subject(s)
Executive Function , Music , Adolescent , Adult , Child , Humans , Brain , Cognition , Language , Music/psychology
16.
Ann N Y Acad Sci ; 1521(1): 140-154, 2023 03.
Article in English | MEDLINE | ID: mdl-36718543

ABSTRACT

Uncovering the genetic underpinnings of musical ability and engagement is a foundational step for exploring their wide-ranging associations with cognition, health, and neurodevelopment. Prior studies have focused on using twin and family designs, demonstrating moderate heritability of musical phenotypes. The current study used genome-wide complex trait analysis and polygenic score (PGS) approaches utilizing genotype data to examine genetic influences on two musicality traits (rhythmic perception and music engagement) in N = 1792 unrelated adults in the Vanderbilt Online Musicality Study. Meta-analyzed heritability estimates (including a replication sample of Swedish individuals) were 31% for rhythmic perception and 12% for self-reported music engagement. A PGS derived from a recent study on beat synchronization ability predicted both rhythmic perception (ß = 0.11) and music engagement (ß = 0.19) in our sample, suggesting that genetic influences underlying self-reported beat synchronization ability also influence individuals' rhythmic discrimination aptitude and the degree to which they engage in music. Cross-trait analyses revealed a modest contribution of PGSs from several nonmusical traits (from the cognitive, personality, and circadian chronotype domains) to individual differences in musicality (ß = -0.06 to 0.07). This work sheds light on the complex relationship between the genetic architecture of musical rhythm processing, beat synchronization, music engagement, and other nonmusical traits.


Subject(s)
Music , Cognition , Individuality , Phenotype , Perception , Auditory Perception
17.
J Anim Sci ; 1012023 Jan 03.
Article in English | MEDLINE | ID: mdl-36383458

ABSTRACT

The intestinal morphology and function can be compromised in pigs exposed to heat stress (HS), partly due to increased production of reactive-oxygen species. Because methionine (Met) functions as intracellular antioxidant, the requirement of Met may be increased in HS-pigs. The effect of dietary supplementation with dl-Met above requirement on performance, small intestine morphology, antioxidant enzymes activity, amino acid transporters expression, and serum concentration (SC) of free AA in HS-pigs was evaluated. A basal wheat-soybean meal diet was formulated to meet 100% Met requirement with the other indispensable AA exceeding at least 20% their requirement. Sixty individually housed pigs (23.0 ± 2.4 kg BW, 12 pigs per treatment) were randomly assigned to five treatments: TN100, thermal-neutral (22.7 °C) housed pigs fed the basal diet; HS100, HS120, HS140, HS160; HS-pigs (29.6 °C to 39.4 °C) fed the basal diet supplemented with dl-Met to contain 0%, 20%, 40%, and 60% dl-Met above the requirement, respectively. Pigs had free access to feed and water during the 21-d trial. Blood samples were collected on day 18 to analyze the absorptive AA-SC. The effect of ambient temperature (HS100 vs. TN100), as well as the linear and quadratic effects of increasing Met levels in the diets for HS-pigs were analyzed. The HS100 pigs gained less weight than TN100 and HS120 pigs (P < 0.01); gain:feed was also higher in HS120 pigs than in HS100 pigs (P ≤ 0.05). Feed intake of TN100 pigs was higher than that of HS-pigs fed the dl-Met supplemented diets (P < 0.05). Villi height reduced in pigs HS, but Met supplementation quadratically increased it (P < 0.05). Superoxide dismutase and catalase activities, reduced glutathione concentration, and relative expression of B0AT2 in ileum decreased (P < 0.05), but glutathione peroxidase activity increased in HS-pigs. dl-Met supplementation linearly affected catalase and glutathione peroxidase activities, as well as the relative expression of b0,+AT in jejunum (P < 0.05) of HS-pigs. The SC of Ile, Leu, Lys, Phe, and Val were higher in HS100 pigs than in TN100 pigs (P < 0.05). Graded levels of supplemental dl-Met in diets for HS-pigs linearly decreased SC of Ile, Leu, and Val (P < 0.05), tended to decrease His, Lys, and Thr (P < 0.10), and increased Met (P < 0.01). In conclusion, HS had negative effect on weight gain and intestinal morpho-physiology; however, it was ameliorated by adding 20% Met above the requirement in diets for growing pigs.


The exposure of pigs to ambient temperature above their comfort zone affects several functions of the small intestine, especially those related with digestion of feed and absorption of nutrients, which in turn reduces the availability of nutrients for growth. Amino acids such as methionine are involved in multiple functions of intestinal cells. Thus, methionine supplementation may help pigs to overcome the negative impact of their exposure to high ambient temperature. Indeed, methionine supplementation to the diet increased growth rate and feed efficiency of pigs housed under heat stress, which was presumably associated with an improvement in the utilization of the absorbed amino acids.


Subject(s)
Amino Acids , Antioxidants , Swine , Animals , Amino Acids/metabolism , Catalase , Diet/veterinary , Dietary Supplements , Sus scrofa/metabolism , Methionine/pharmacology , Heat-Shock Response , Racemethionine , Glutathione , Glutathione Peroxidase , Gene Expression , Animal Feed/analysis
18.
Psychol Aesthet Creat Arts ; 17(6): 675-681, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38269365

ABSTRACT

Musical aptitude and music training are associated with language-related cognitive outcomes, even when controlling for general intelligence. However, genetic and environmental influences on these associations have not been studied, and it remains unclear whether music training can causally increase verbal ability. In a sample of 1,336 male twins, we tested the associations between verbal ability measured at time of conscription at age 18 and two music related variables: overall musical aptitude and total amount of music training before the age of 18. We estimated the amount of specific genetic and environmental influences on the association between verbal ability and musical aptitude, over and above the factors shared with general intelligence, using classical twin modelling. Further, we tested whether music training could causally influence verbal ability using a co-twin-control analysis. Musical aptitude and music training were significantly associated with verbal ability. Controlling for general intelligence only slightly attenuated the correlations. The partial association between musical aptitude and verbal ability, corrected for general intelligence, was mostly explained by shared genetic factors (50%) and non-shared environmental influences (35%). The co-twin-control-analysis gave no support for causal effects of early music training on verbal ability at age 18. Overall, our findings in a sizeable population sample converge with known associations between the music and language domains, while results from twin modelling suggested that this reflected a shared underlying aetiology rather than causal transfer.

19.
JAMA Netw Open ; 5(12): e2248060, 2022 12 01.
Article in English | MEDLINE | ID: mdl-36580336

ABSTRACT

Importance: Developmental language disorder (DLD) is a common (with up to 7% prevalence) yet underdiagnosed childhood disorder whose underlying biological profile and comorbidities are not fully understood, especially at the population level. Objective: To identify clinically relevant conditions that co-occur with DLD at the population level. Design, Setting, and Participants: This case-control study used an electronic health record (EHR)-based population-level approach to compare the prevalence of comorbid health phenotypes between DLD cases and matched controls. These cases were identified using the Automated Phenotyping Tool for Identifying Developmental Language Disorder algorithm of the Vanderbilt University Medical Center EHR, and a phenome enrichment analysis was used to identify comorbidities. An independent sample was selected from the Geisinger Health System EHR to test the replication of the phenome enrichment using the same phenotyping and analysis pipeline. Data from the Vanderbilt EHR were accessed between March 2019 and October 2020, while data from the Geisinger EHR were accessed between January and March 2022. Main Outcomes and Measures: Common and rare comorbidities of DLD at the population level were identified using EHRs and a phecode-based enrichment analysis. Results: Comorbidity analysis was conducted for 5273 DLD cases (mean [SD] age, 16.8 [7.2] years; 3748 males [71.1%]) and 26 353 matched controls (mean [SD] age, 14.6 [5.5] years; 18 729 males [71.1%]). Relevant phenotypes associated with DLD were found, including learning disorder, delayed milestones, disorders of the acoustic nerve, conduct disorders, attention-deficit/hyperactivity disorder, lack of coordination, and other motor deficits. Several other health phenotypes not previously associated with DLD were identified, such as dermatitis, conjunctivitis, and weight and nutrition, representing a new window into the clinical complexity of DLD. Conclusions and Relevance: This study found both rare and common comorbidities of DLD. Comorbidity profiles may be leveraged to identify risk of additional health challenges, beyond language impairment, among children with DLD.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Language Development Disorders , Learning Disabilities , Male , Humans , Case-Control Studies , Attention Deficit Disorder with Hyperactivity/epidemiology , Comorbidity
20.
Sci Rep ; 12(1): 14658, 2022 08 29.
Article in English | MEDLINE | ID: mdl-36038631

ABSTRACT

To further our understanding of the genetics of musicality, we explored associations between a polygenic score for self-reported beat synchronization ability (PGSrhythm) and objectively measured rhythm discrimination, as well as other validated music skills and music-related traits. Using family data, we were able to further explore potential pathways of direct genetic, indirect genetic (through passive gene-environment correlation) and confounding effects (such as population structure and assortative mating). In 5648 Swedish twins, we found PGSrhythm to predict not only rhythm discrimination, but also melody and pitch discrimination (betas between 0.11 and 0.16, p < 0.001), as well as other music-related outcomes (p < 0.05). In contrast, PGSrhythm was not associated with control phenotypes not directly related to music. Associations did not deteriorate within families (N = 243), implying that indirect genetic or confounding effects did not inflate PGSrhythm effects. A correlation (r = 0.05, p < 0.001) between musical enrichment of the family childhood environment and individuals' PGSrhythm, suggests gene-environment correlation. We conclude that the PGSrhythm captures individuals' general genetic musical propensity, affecting musical behavior more likely direct than through indirect or confounding effects.


Subject(s)
Music , Pitch Discrimination , Humans , Multifactorial Inheritance/genetics , Sweden , Twins/genetics
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