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Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
Unlu G, Qi X, Gamazon ER, Melville DB, Patel N, Rushing AR, Hashem M, Al-Faifi A, Chen R, Li B, Cox NJ, Alkuraya FS, Knapik EW
(2020) Nat Med 26: 98-109
MeSH Terms: Abnormalities, Multiple, Animals, Behavior, Animal, Biological Specimen Banks, Chondrocytes, Disease Models, Animal, Extracellular Matrix, Fibroblasts, Guanine Nucleotide Exchange Factors, Humans, Models, Biological, Musculoskeletal System, Osteogenesis, Phenomics, Phenotype, Procollagen, Protein Transport, Secretory Pathway, Syndrome, Zebrafish, Zebrafish Proteins
Show Abstract · Added January 15, 2020
Discovery of genotype-phenotype relationships remains a major challenge in clinical medicine. Here, we combined three sources of phenotypic data to uncover a new mechanism for rare and common diseases resulting from collagen secretion deficits. Using a zebrafish genetic screen, we identified the ric1 gene as being essential for skeletal biology. Using a gene-based phenome-wide association study (PheWAS) in the EHR-linked BioVU biobank, we show that reduced genetically determined expression of RIC1 is associated with musculoskeletal and dental conditions. Whole-exome sequencing identified individuals homozygous-by-descent for a rare variant in RIC1 and, through a guided clinical re-evaluation, it was discovered that they share signs with the BioVU-associated phenome. We named this new Mendelian syndrome CATIFA (cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder) and revealed further disease mechanisms. This gene-based, PheWAS-guided approach can accelerate the discovery of clinically relevant disease phenome and associated biological mechanisms.
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21 MeSH Terms
Validity of Vocal Communication and Vocal Complexity in Young Children with Autism Spectrum Disorder.
McDaniel J, Yoder P, Estes A, Rogers SJ
(2020) J Autism Dev Disord 50: 224-237
MeSH Terms: Autism Spectrum Disorder, Behavior Rating Scale, Child, Preschool, Communication, Female, Humans, Infant, Language Development, Male
Show Abstract · Added March 30, 2020
To identify valid measures of vocal development in young children with autism spectrum disorder in the early stages of language learning, we evaluated the convergent validity, divergent validity, and sensitivity to change (across 12 months) of two measures of vocal communication and two measures of vocal complexity through conventional coding of communication samples. Participants included 87 children with autism spectrum disorder (M = 23.42 months at entry). All four vocal variables demonstrated consistent evidence of convergent validity, divergent validity, and sensitivity to change with large effect sizes for convergent validity and sensitivity to change. The results highlight the value of measuring vocal communication and vocal complexity in future studies.
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9 MeSH Terms
Women With Overactive Bladder Exhibit More Unhealthy Toileting Behaviors: A Cross-sectional Study.
Daily AM, Kowalik CG, Delpe SD, Kaufman MR, Dmochowski RR, Reynolds WS
(2019) Urology 134: 97-102
MeSH Terms: Adult, Bathroom Equipment, Behavioral Symptoms, Cross-Sectional Studies, Female, Humans, Middle Aged, Quality of Life, Risk Factors, Self Care, Surveys and Questionnaires, Symptom Assessment, United States, Urinary Bladder, Overactive, Urinary Incontinence, Urge, Urination
Show Abstract · Added September 16, 2019
OBJECTIVE - To determine whether women overactive bladder symptoms would report more frequent unhealthy toileting behaviors.
METHODS - A community-based sample of adult women was electronically recruited to complete the Toileting Behavior Scale and the International Consultation on Incontinence Questionnaire - Overactive Bladder module, as well as clinical and demographic questionnaires. The associations between overactive bladder and toileting behavior subscales were assessed as continuous variables using Spearman's rank correlation and as dichotomous variables with multivariable logistic regression.
RESULTS - Of the 6562 adult women included in the analytic sample, 1059 (16.1%) were classified as having overactive bladder. Of the toileting behavior subscales, convenience voiding had the highest, positive association with overactive bladder score (r = 0.301, P < .0001). On multivariable logistic regression, women with overactive bladder (OAB) were more likely to report behaviors of convenience voiding (odds ratio [OR] 1.13, confidence intervals [CI] 1.11-1.15), delayed voiding (OR 1.05, CI 1.02-1.08), straining to void (OR 1.05, CI 1.03-1.07), and position preference (OR 1.13, CI 1.08-1.18).
CONCLUSION - OAB symptoms were associated with specific toileting behaviors of convenience voiding, delayed voiding, straining to void, and position preference. Further investigation is needed to determine if toileting behaviors are a risk factor for OAB or a compensatory adaptation to mitigate symptoms.
Copyright © 2019 Elsevier Inc. All rights reserved.
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16 MeSH Terms
Sex-Dependent Modulation of Anxiety and Fear by 5-HT Receptors in the Bed Nucleus of the Stria Terminalis.
Marcinkiewcz CA, Bierlein-De La Rosa G, Dorrier CE, McKnight M, DiBerto JF, Pati D, Gianessi CA, Hon OJ, Tipton G, McElligott ZA, Delpire E, Kash TL
(2019) ACS Chem Neurosci 10: 3154-3166
MeSH Terms: Animals, Anxiety, Behavior, Animal, Fear, Feeding Behavior, Female, Gene Knockdown Techniques, Male, Mice, Mice, Transgenic, Motor Activity, Neurons, Receptor, Serotonin, 5-HT1A, Septal Nuclei, Sex Factors
Show Abstract · Added June 28, 2019
Serotonin (5-hydroxytryptamine; 5-HT) coordinates behavioral responses to stress through a variety of presynaptic and postsynaptic receptors distributed across functionally diverse neuronal networks in the central nervous system. Efferent 5-HT projections from the dorsal raphe nucleus (DRN) to the bed nucleus of the stria terminalis (BNST) are generally thought to enhance anxiety and aversive learning by activating 5-HT receptor (5-HTR) signaling in the BNST, although an opposing role for postsynaptic 5-HT receptors has recently been suggested. In the present study, we sought to delineate a role for postsynaptic 5-HT receptors in the BNST in aversive behaviors using a conditional knockdown of the 5-HT receptor. Both males and females were tested to dissect out sex-specific effects. We found that male mice have significantly reduced fear memory recall relative to female mice and inactivation of 5-HT receptor in the BNST increases contextual fear conditioning in male mice so that they resemble the females. This coincided with an increase in neuronal excitability in males, suggesting that 5-HT receptor deletion may enhance contextual fear recall by disinhibiting fear memory circuits in the BNST. Interestingly, 5-HT receptor knockdown did not significantly alter anxiety-like behavior in male or female mice, which is in agreement with previous findings that anxiety and fear are modulated by dissociable circuits in the BNST. Overall, these results suggest that BNST 5-HT receptors do not significantly alter behavior under basal conditions, but can act as a molecular brake that buffer against excessive activation of aversive circuits in more threatening contexts.
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15 MeSH Terms
The Relation Between Early Parent Verb Input and Later Expressive Verb Vocabulary in Children With Autism Spectrum Disorder.
Crandall MC, McDaniel J, Watson LR, Yoder PJ
(2019) J Speech Lang Hear Res 62: 1787-1797
MeSH Terms: Autism Spectrum Disorder, Child, Child Language, Child, Preschool, Female, Humans, Infant, Language Tests, Longitudinal Studies, Male, Parenting, Verbal Behavior, Verbal Learning, Vocabulary
Show Abstract · Added March 30, 2020
Purpose The purpose of this study was to evaluate if higher quantity, diversity, and grammatical informativeness of verb phrases in parent follow-in utterances (i.e., utterances that mapped onto child attentional leads) were significantly related to later expressive verb vocabulary in children with autism spectrum disorder (ASD). Method We examined these associations in a sample of 31 toddlers with ASD and their parents in a longitudinal correlational study. Key aspects of parents' verb input were measured in 2 video-recorded 15-min parent-child free-play sessions. Child expressive verb vocabulary was measured using parent report. Results An aggregate variable composed of the quantity, diversity, and grammatical informativeness of parent verb input in follow-in utterances across the 2 parent-child sessions strongly and positively predicted later child expressive verb vocabulary, total R = .25, even when early child expressive verb vocabulary was controlled, R change = .17. Parent follow-in utterances without verbs were not significantly related to later child expressive verb vocabulary, R = .001. Conclusions These correlational findings are initial steps toward developing a knowledge base for how strong verb vocabulary skills might be facilitated in children with ASD.
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14 MeSH Terms
A consensus guide to capturing the ability to inhibit actions and impulsive behaviors in the stop-signal task.
Verbruggen F, Aron AR, Band GP, Beste C, Bissett PG, Brockett AT, Brown JW, Chamberlain SR, Chambers CD, Colonius H, Colzato LS, Corneil BD, Coxon JP, Dupuis A, Eagle DM, Garavan H, Greenhouse I, Heathcote A, Huster RJ, Jahfari S, Kenemans JL, Leunissen I, Li CR, Logan GD, Matzke D, Morein-Zamir S, Murthy A, Paré M, Poldrack RA, Ridderinkhof KR, Robbins TW, Roesch M, Rubia K, Schachar RJ, Schall JD, Stock AK, Swann NC, Thakkar KN, van der Molen MW, Vermeylen L, Vink M, Wessel JR, Whelan R, Zandbelt BB, Boehler CN
(2019) Elife 8:
MeSH Terms: Animals, Consensus, Decision Making, Executive Function, Humans, Impulsive Behavior, Inhibition, Psychological, Models, Animal, Models, Psychological, Neuropsychological Tests, Psychomotor Performance, Reaction Time
Show Abstract · Added March 18, 2020
Response inhibition is essential for navigating everyday life. Its derailment is considered integral to numerous neurological and psychiatric disorders, and more generally, to a wide range of behavioral and health problems. Response-inhibition efficiency furthermore correlates with treatment outcome in some of these conditions. The stop-signal task is an essential tool to determine how quickly response inhibition is implemented. Despite its apparent simplicity, there are many features (ranging from task design to data analysis) that vary across studies in ways that can easily compromise the validity of the obtained results. Our goal is to facilitate a more accurate use of the stop-signal task. To this end, we provide 12 easy-to-implement consensus recommendations and point out the problems that can arise when they are not followed. Furthermore, we provide user-friendly open-source resources intended to inform statistical-power considerations, facilitate the correct implementation of the task, and assist in proper data analysis.
© 2019, Verbruggen et al.
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MeSH Terms
GLP-1: Molecular mechanisms and outcomes of a complex signaling system.
Smith NK, Hackett TA, Galli A, Flynn CR
(2019) Neurochem Int 128: 94-105
MeSH Terms: Animals, Brain, Diabetes Mellitus, Type 2, Feeding Behavior, Glucagon-Like Peptide 1, Humans, Obesity, Reward, Signal Transduction
Show Abstract · Added December 17, 2019
Meal ingestion provokes the release of hormones and transmitters, which in turn regulate energy homeostasis and feeding behavior. One such hormone, glucagon-like peptide-1 (GLP-1), has received significant attention in the treatment of obesity and diabetes due to its potent incretin effect. In addition to the peripheral actions of GLP-1, this hormone is able to alter behavior through the modulation of multiple neural circuits. Recent work that focused on elucidating the mechanisms and outcomes of GLP-1 neuromodulation led to the discovery of an impressive array of GLP-1 actions. Here, we summarize the many levels at which the GLP-1 signal adapts to different systems, with the goal being to provide a background against which to guide future research.
Copyright © 2019. Published by Elsevier Ltd.
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9 MeSH Terms
Childhood temperament is associated with distress, anxiety and reduced quality of life in schizophrenia spectrum disorders.
Feola B, Armstrong K, Woodward ND, Heckers S, Blackford JU
(2019) Psychiatry Res 275: 196-203
MeSH Terms: Adult, Anxiety, Child, Cognition, Comorbidity, Female, Humans, Male, Personality, Personality Disorders, Quality of Life, Schizophrenia, Schizophrenic Psychology, Social Behavior, Stress, Psychological, Substance-Related Disorders, Temperament
Show Abstract · Added January 31, 2020
Schizophrenia is conceptualized as a neurodevelopmental disorder and pre-morbid differences in social function and cognition have been well-established. Less is known about pre-morbid temperament and personality. Inhibited temperament-the predisposition to respond to novelty with wariness, fear, or caution-is a premorbid risk factor for anxiety, depression, and substance use but is understudied in schizophrenia. Participants were patients with schizophrenia spectrum disorders (n = 166) and healthy controls (n = 180). Patients completed measures of childhood inhibited temperament, clinical symptoms (anxiety, depression, PANSS factors), and quality of life. Patients had significantly higher levels of inhibited temperament relative to healthy controls. In patients with schizophrenia, higher inhibited temperament was significantly associated with co-morbid anxiety disorders, greater anxiety and depression symptoms, higher PANSS Distress scores, lower PANSS Excitement scores, and lower quality of life. The current findings replicate and extend previous research with a larger sample and are consistent with vulnerability in an affective path to psychosis. In schizophrenia, higher inhibited temperament was associated with a cluster of mood and anxiety symptoms. Inhibited temperament was not associated with psychosis symptoms. Patients with high inhibited temperament may especially benefit from treatments that specifically target anxiety and depression.
Copyright © 2019. Published by Elsevier B.V.
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The stability of joint engagement states in infant siblings of children with and without ASD: Implications for measurement practices.
Bottema-Beutel K, Kim SY, Crowley S, Augustine A, Kecili-Kaysili B, Feldman J, Woynaroski T
(2019) Autism Res 12: 495-504
MeSH Terms: Autism Spectrum Disorder, Child, Child, Preschool, Female, Humans, Infant, Interpersonal Relations, Longitudinal Studies, Male, Siblings, Social Behavior
Show Abstract · Added March 18, 2020
Obtaining stable estimates of caregiver-child joint engagement states is of interest for researchers who study development and early intervention in young children with autism spectrum disorder (ASD). However, studies to date have offered little guidance on the numbers of sessions and coders necessary to obtain sufficiently stable estimates of these constructs. We used procedures derived from G theory to carry out a generalizability study, in which we partitioned error variance between two facets of our system for measuring joint engagement states: session and coder. A decision study was then conducted to determine the number of sessions and coders required to obtain g coefficients of 0.80, an a priori threshold set for acceptable stability. This process was conducted separately for 10 infant siblings of children with ASD (Sibs-ASD) and 10 infants whose older sibling did not have ASD (Sibs-TD), and for two different joint engagement states; lower- and higher-order supported joint engagement (LSJE and HSJE, respectively). Results indicated that, in the Sibs-ASD group, four sessions and one coder was required to obtain acceptably stable estimates for HSJE; only one session and one coder were required for LSJE. In the Sibs-TD group, two sessions and one coder were required for HSJE; seven sessions and two coders were required for LSJE. Implications for measurement in future research are discussed. Autism Res 2019, 12: 495-504 © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study offers guidance for researchers who measure joint engagement between caregivers and infants who have an older sibling with ASD, and who have older siblings who are TD.
© 2019 International Society for Autism Research, Wiley Periodicals, Inc.
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11 MeSH Terms
Friendship and social functioning following early institutional rearing: The role of ADHD symptoms.
Humphreys KL, Gabard-Durnam L, Goff B, Telzer EH, Flannery J, Gee DG, Park V, Lee SS, Tottenham N
(2019) Dev Psychopathol 31: 1477-1487
MeSH Terms: Adolescent, Aggression, Attention Deficit Disorder with Hyperactivity, Child, Child, Institutionalized, Female, Friends, Humans, Male, Peer Group, Social Adjustment, Social Behavior
Show Abstract · Added March 3, 2020
Early institutional rearing is associated with increased risk for subsequent peer relationship difficulties, but the underlying mechanisms have not been identified. Friendship characteristics, social behaviors with peers, normed assessments of social problems, and social cue use were assessed in 142 children (mean age = 10.06, SD = 2.02; range 7-13 years), of whom 67 were previously institutionalized (PI), and 75 were raised by their biological families. Anxiety and attention-deficit/hyperactivity disorder (ADHD) symptoms, often elevated among PI children, were examined as potential mediators of PI status and baseline social functioning and longitudinal follow-ups (2 and 4 years later). Twenty-seven percent of PI children fell above the Child Behavior Checklist Social Problems cutoff. An examination of specific social behaviors with peers indicated that PI and comparison children did not differ in empathic concern or peer social approach, though parents were more likely to endorse aggression/overarousal as a reason that PI children might struggle with friendships. Comparison children outperformed PI children in computerized testing of social cue use learning. Finally, across these measures, social difficulties exhibited in the PI group were mediated by ADHD symptoms with predicted social problems assessed 4 years later. These findings show that, when PI children struggle with friendships, mechanisms involving attention and behavior regulation are likely contributors.
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