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The Study of Biobehavioral Rhythms in a Psychology Laboratory Course.
ERIC Educational Resources Information Center
Rowland, David L.; Wesselhoft, Theresa
1998-01-01
Reports on a laboratory experiment where students measured their heart rate, blood pressure, mood, alertness, and cognitive performance. Measures showed significant circadian heart rhythm variations. They were strongly correlated and peaked at different times. Discusses the implications of this and students' reactions to the experiment. (MJP)
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Improving Service Management in Campus IT Operations
ERIC Educational Resources Information Center
Wan, Stewart H. C.; Chan, Yuk-Hee
2008-01-01
Purpose: This paper aims at presenting the benefits from implementing IT service management (ITSM) in an organization for managing campus-wide IT operations. In order to improve the fault correlation from business perspectives, we proposed a framework to automate network and system alerts with respect to its business service impact for proactive…
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Level of agreement between physical activity levels measured by ActiHeart and the International Physical Activity Questionnaire in persons with intellectual disability.
PubMed
Moss, Sarah J; Czyz, Stanislaw H
2018-02-01
The purpose of this study was to determine the level of agreement between objective physical activity (PA) (ActiHeart ® ) and subjective proxy-respondent International Physical Activity Questionnaire-short version (IPAQ-S) data in adults with intellectual disabilities (IDs). Fifty-eight participants wore ActiHeart ® monitors for seven consecutive days. Caregivers of each participant completed the IPAQ-S on behalf of the participant. Total PA, time spent in light, moderate, and vigorous activity as well as time spent being sedentary were assessed by the IPAQ-S and the ActiHeart ® . Results were compared by means of correlation analyses. The level of agreement was presented with Bland-Altman plots. Objective PA (ActiHeart ® ) was higher (225.57 ± 91.96 min/week) than IPAQ-S PA reported by care-givers (177.06 ± 309.17 min/week). Weak significant correlations were observed between the ActiHeart ® and IPAQ-S instruments for sedentary behavior (r = 0.31; p = 0.04); no significant correlations for light (r= -0.04; p = 0.8), moderate (r= -0.07; p = 0.63), or vigorous PA (r= -0.2; p = 0.18) were found. Limited agreement between objectively determine PA (ActiHeart ® ) and IPAQ-S was found. IPAQ-S is inaccurate when determining PA in persons with ID as it significantly underestimates the true levels of PA in this cohort. Implications for Rehabilitation Persons with intellectual disability (ID) report insufficient physical activity for health benefits. Physical activity is often determined by means of subjective proxy reporting. Objective physical activity measurements by means of combined heart rate and accelerometer are necessary to determine accurate levels of physical activity in persons with ID. Exercise interventions should be based on objective physical activity measurements.
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Motivational Correlates of Physical Activity in Persons with an Intellectual Disability: A Systematic Literature Review
ERIC Educational Resources Information Center
Hutzler, Y.; Korsensky, O.
2010-01-01
Background: The purpose of this study is to systematically retrieve, examine and discuss scientific studies focusing on motivational correlates that both contribute to, and can be assumed to be effects of, participation in sport, recreation, or health-related physical activities in persons with intellectual disability (ID). Methods: A systematic…
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Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).
PubMed
Haverkamp, Margje H; Marciano, Beatriz E; Frucht, David M; Jain, Ashish; van de Vosse, Esther; Holland, Steven M
2014-05-01
Patients with hypomorphic mutations in Nuclear Factor-κB Essential Modulator (NEMO) are immunodeficient (ID) and most display ectodermal dysplasia and anhidrosis (EDA). We compared cytokine production by NEMO-ID patients with and without EDA. PBMCs of NEMO-ID patients, four with EDA carrying E315A, C417R, D311N and Q403X, and three without EDA carrying E315A, E311_L333del and R254G, were cultured with PHA, PHA plus IL-12p70, LPS, LPS plus IFN-γ, TNF and IL-1β. The production of various cytokines was measured in the supernatants. Fifty-nine healthy individuals served as controls. PBMCs of NEMO-ID patients without EDA produce subnormal amounts of IFN-γ after stimulation with PHA, but normal amounts of IFN-γ after PHA plus IL-12p70. In contrast, IFN-γ production by patients with EDA was low in both cases. Patients with EDA also generate lower PHA-stimulated IL-10 and IL-1β than controls, whereas the production of these cytokines by patients without EDA was normal. Responses of PBMCs in NEMO-ID patients with EDA to PHA with and without IL-12p70 appear less robust than in NEMO-ID patients without EDA. This possibly indicates a better preserved NEMO function in our patients without EDA.
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Diagnostic accuracy for major depression in multiple sclerosis using self-report questionnaires.
PubMed
Fischer, Anja; Fischer, Marcus; Nicholls, Robert A; Lau, Stephanie; Poettgen, Jana; Patas, Kostas; Heesen, Christoph; Gold, Stefan M
2015-09-01
Multiple sclerosis and major depressive disorder frequently co-occur but depression often remains undiagnosed in this population. Self-rated depression questionnaires are a good option where clinician-based standardized diagnostics are not feasible. However, there is a paucity of data on diagnostic accuracy of self-report measures for depression in multiple sclerosis (MS). Moreover, head-to-head comparisons of common questionnaires are largely lacking. This could be particularly relevant for high-risk patients with depressive symptoms. Here, we compare the diagnostic accuracy of the Beck Depression Inventory (BDI) and 30-item version of the Inventory of Depressive Symptomatology Self-Rated (IDS-SR30) for major depressive disorder (MSS) against diagnosis by a structured clinical interview. Patients reporting depressive symptoms completed the BDI, the IDS-SR30 and underwent diagnostic assessment (Mini International Neuropsychiatric Interview, M.I.N.I.). Receiver-Operating Characteristic analyses were performed, providing error estimates and false-positive/negative rates of suggested thresholds. Data from n = 31 MS patients were available. BDI and IDS-SR30 total score were significantly correlated (r = 0.82). The IDS-SR30total score, cognitive subscore, and BDI showed excellent to good accuracy (area under the curve (AUC) 0.86, 0.91, and 0.85, respectively). Both the IDS-SR30 and the BDI are useful to quantify depressive symptoms showing good sensitivity and specificity. The IDS-SR30 cognitive subscale may be useful as a screening tool and to quantify affective/cognitive depressive symptomatology.
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A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family
PubMed Central
Sheereen, Atia; Alaamery, Manal; Bawazeer, Shahad; Al Yafee, Yusra; Massadeh, Salam; Eyaid, Wafaa
2017-01-01
Background Autosomal-recessive non-syndromic intellectual disability (ARNS-ID) is an aetiologically heterogeneous disorder. Although little is known about the function of human cereblon (CRBN), its relationship to mild cognitive deficits suggests that it is involved in the basic processes of human memory and learning. Objectives We aim to identify the genetic cause of intellectual disability and self-mutilation in a consanguineous Saudi family with five affected members. Methods Clinical whole-exome sequencing was performed on the proband patient, and Sanger sequencing was done to validate and confirm segregation in other family members. Results A missense variant (c. 1171T>C) in the CRBN gene was identified in five individuals with severe intellectual disability (ID) in a consanguineous Saudi family. The homozygous variant was co-segregating in the family with the phenotype of severe ID, seizures and self-mutilating behaviour. The missense mutation (p.C391R) reported here results in the replacement of a conserved cysteine residue by an arginine in the CULT (cereblon domain of unknown activity, binding cellular ligands and thalidomide) domain of CRBN, which contains a zinc-binding site. Conclusions These findings thus contribute to a growing list of ID disorders caused by CRBN mutations, broaden the spectrum of phenotypes attributable to ARNS-ID and provide new insight into genotype–phenotype correlations between CRBN mutations and the aetiology of ARNS-ID. PMID:28143899
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Reliability and validity of the test of incremental respiratory endurance measures of inspiratory muscle performance in COPD.
PubMed
Formiga, Magno F; Roach, Kathryn E; Vital, Isabel; Urdaneta, Gisel; Balestrini, Kira; Calderon-Candelario, Rafael A; Campos, Michael A; Cahalin, Lawrence P
2018-01-01
The Test of Incremental Respiratory Endurance (TIRE) provides a comprehensive assessment of inspiratory muscle performance by measuring maximal inspiratory pressure (MIP) over time. The integration of MIP over inspiratory duration (ID) provides the sustained maximal inspiratory pressure (SMIP). Evidence on the reliability and validity of these measurements in COPD is not currently available. Therefore, we assessed the reliability, responsiveness and construct validity of the TIRE measures of inspiratory muscle performance in subjects with COPD. Test-retest reliability, known-groups and convergent validity assessments were implemented simultaneously in 81 male subjects with mild to very severe COPD. TIRE measures were obtained using the portable PrO2 device, following standard guidelines. All TIRE measures were found to be highly reliable, with SMIP demonstrating the strongest test-retest reliability with a nearly perfect intraclass correlation coefficient (ICC) of 0.99, while MIP and ID clustered closely together behind SMIP with ICC values of about 0.97. Our findings also demonstrated known-groups validity of all TIRE measures, with SMIP and ID yielding larger effect sizes when compared to MIP in distinguishing between subjects of different COPD status. Finally, our analyses confirmed convergent validity for both SMIP and ID, but not MIP. The TIRE measures of MIP, SMIP and ID have excellent test-retest reliability and demonstrated known-groups validity in subjects with COPD. SMIP and ID also demonstrated evidence of moderate convergent validity and appear to be more stable measures in this patient population than the traditional MIP.
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Effects of an 8-Week Structured Physical Activity Program on Psychosocial Behaviors of Children With Intellectual Disabilities.
PubMed
Choi, Peggy H; Cheung, Siu Yin
2016-01-01
The study aimed to investigate the impact of an 8-wk structured physical activity program on selected psychosocial behaviors of children with intellectual disabilities (ID) and to estimate whether generalization occurred. Thirty children (22 boys, 8 girls) with mild ID took part in the study. The ANCOVA results showed a significant difference between the training group and the control group in emotional self-control mean scores, F(1, 25) = 7.61, p = .011, with the posttest mean score of the training group being better than that of the control group. The correlation analysis showed a medium, positive correlation between the gain scores of emotional self-control in the training context and classroom context of the training group (r = .41, n = 16, p = .12). Hence, generalization appeared to have occurred.
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Alert dwell time: introduction of a measure to evaluate interruptive clinical decision support alerts.
PubMed
McDaniel, Robert B; Burlison, Jonathan D; Baker, Donald K; Hasan, Murad; Robertson, Jennifer; Hartford, Christine; Howard, Scott C; Sablauer, Andras; Hoffman, James M
2016-04-01
Metrics for evaluating interruptive prescribing alerts have many limitations. Additional methods are needed to identify opportunities to improve alerting systems and prevent alert fatigue. In this study, the authors determined whether alert dwell time-the time elapsed from when an interruptive alert is generated to when it is dismissed-could be calculated by using historical alert data from log files. Drug-drug interaction (DDI) alerts from 3 years of electronic health record data were queried. Alert dwell time was calculated for 25,965 alerts, including 777 unique DDIs. The median alert dwell time was 8 s (range, 1-4913 s). Resident physicians had longer median alert dwell times than other prescribers (P < 001). The 10 most frequent DDI alerts (n = 8759 alerts) had shorter median dwell times than alerts that only occurred once (P < 001). This metric can be used in future research to evaluate the effectiveness and efficiency of interruptive prescribing alerts. © The Author 2015. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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Machine Learning Techniques for Prediction of Early Childhood Obesity.
PubMed
Dugan, T M; Mukhopadhyay, S; Carroll, A; Downs, S
2015-01-01
This paper aims to predict childhood obesity after age two, using only data collected prior to the second birthday by a clinical decision support system called CHICA. Analyses of six different machine learning methods: RandomTree, RandomForest, J48, ID3, Naïve Bayes, and Bayes trained on CHICA data show that an accurate, sensitive model can be created. Of the methods analyzed, the ID3 model trained on the CHICA dataset proved the best overall performance with accuracy of 85% and sensitivity of 89%. Additionally, the ID3 model had a positive predictive value of 84% and a negative predictive value of 88%. The structure of the tree also gives insight into the strongest predictors of future obesity in children. Many of the strongest predictors seen in the ID3 modeling of the CHICA dataset have been independently validated in the literature as correlated with obesity, thereby supporting the validity of the model. This study demonstrated that data from a production clinical decision support system can be used to build an accurate machine learning model to predict obesity in children after age two.
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Prediction of protein subcellular localization by weighted gene ontology terms.
PubMed
Chi, Sang-Mun
2010-08-27
We develop a new weighting approach of gene ontology (GO) terms for predicting protein subcellular localization. The weights of individual GO terms, corresponding to their contribution to the prediction algorithm, are determined by the term-weighting methods used in text categorization. We evaluate several term-weighting methods, which are based on inverse document frequency, information gain, gain ratio, odds ratio, and chi-square and its variants. Additionally, we propose a new term-weighting method based on the logarithmic transformation of chi-square. The proposed term-weighting method performs better than other term-weighting methods, and also outperforms state-of-the-art subcellular prediction methods. Our proposed method achieves 98.1%, 99.3%, 98.1%, 98.1%, and 95.9% overall accuracies for the animal BaCelLo independent dataset (IDS), fungal BaCelLo IDS, animal Höglund IDS, fungal Höglund IDS, and PLOC dataset, respectively. Furthermore, the close correlation between high-weighted GO terms and subcellular localizations suggests that our proposed method appropriately weights GO terms according to their relevance to the localizations. Copyright 2010 Elsevier Inc. All rights reserved.
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Optical and X-ray early follow-up of ANTARES neutrino alerts
NASA Astrophysics Data System (ADS)
Adrián-Martínez, S.; Ageron, M.; Albert, A.; Samarai, I. Al; André, M.; Anton, G.; Ardid, M.; Aubert, J.-J.; Baret, B.; Barrios-Martí, J.; Basa, S.; Bertin, V.; Biagi, S.; Bogazzi, C.; Bormuth, R.; Bou-Cabo, M.; Bouwhuis, M. C.; Bruijn, R.; Brunner, J.; Busto, J.; Capone, A.; Caramete, L.; Carr, J.; Chiarusi, T.; Circella, M.; Coniglione, R.; Costantini, H.; Coyle, P.; Creusot, A.; Dekeyser, I.; Deschamps, A.; De Bonis, G.; Distefano, C.; Donzaud, C.; Dornic, D.; Drouhin, D.; Dumas, A.; Eberl, T.; Elsässer, D.; Enzenhöfer, A.; Fehn, K.; Felis, I.; Fermani, P.; Folger, F.; Fusco, L. A.; Galatà, S.; Gay, P.; Geißelsöder, S.; Geyer, K.; Giordano, V.; Gleixner, A.; Gracia-Ruiz, R.; Graf, K.; van Haren, H.; Heijboer, A. J.; Hello, Y.; Hernández-Rey, J. J.; Herrero, A.; Hößl, J.; Hofestädt, J.; Hugon, C.; James, C. W.; de Jong, M.; Kadler, M.; Kalekin, O.; Katz, U.; Kießling, D.; Kooijman, P.; Kouchner, A.; Kreykenbohm, I.; Kulikovskiy, V.; Lahmann, R.; Lambard, G.; Lattuada, D.; Lefèvre, D.; Leonora, E.; Loucatos, S.; Mangano, S.; Marcelin, M.; Margiotta, A.; Martínez-Mora, J. A.; Martini, S.; Mathieu, A.; Michael, T.; Migliozzi, P.; Moussa, A.; Mueller, C.; Neff, M.; Nezri, E.; Păvălaš, G. E.; Pellegrino, C.; Perrina, C.; Piattelli, P.; Popa, V.; Pradier, T.; Racca, C.; Riccobene, G.; Richter, R.; Roensch, K.; Rostovtsev, A.; Saldaña, M.; Samtleben, D. F. E.; Sanguineti, M.; Sapienza, P.; Schmid, J.; Schnabel, J.; Schulte, S.; Schüssler, F.; Seitz, T.; Sieger, C.; Spurio, M.; Steijger, J. J. M.; Stolarczyk, Th.; Sánchez-Losa, A.; Taiuti, M.; Tamburini, C.; Trovato, A.; Tselengidou, M.; Tönnis, C.; Turpin, D.; Vallage, B.; Vallée, C.; Van Elewyck, V.; Vecchi, M.; Visser, E.; Vivolo, D.; Wagner, S.; Wilms, J.; Zornoza, J. D.; Zúñiga, J.; Klotz, A.; Boer, M.; Le Van Suu, A.; Akerlof, C.; Zheng, W.; Evans, P.; Gehrels, N.; Kennea, J.; Osborne, J. P.; Coward, D. M.
2016-02-01
High-energy neutrinos could be produced in the interaction of charged cosmic rays with matter or radiation surrounding astrophysical sources. Even with the recent detection of extraterrestrial high-energy neutrinos by the IceCube experiment, no astrophysical neutrino source has yet been discovered. Transient sources, such as gamma-ray bursts, core-collapse supernovae, or active galactic nuclei are promising candidates. Multi-messenger programs offer a unique opportunity to detect these transient sources. By combining the information provided by the ANTARES neutrino telescope with information coming from other observatories, the probability of detecting a source is enhanced, allowing the possibility of identifying a neutrino progenitor from a single detected event. A method based on optical and X-ray follow-ups of high-energy neutrino alerts has been developed within the ANTARES collaboration. This method does not require any assumptions on the relation between neutrino and photon spectra other than time-correlation. This program, denoted as TAToO, triggers a network of robotic optical telescopes (TAROT and ROTSE) and the Swift-XRT with a delay of only a few seconds after a neutrino detection, and is therefore well-suited to search for fast transient sources. To identify an optical or X-ray counterpart to a neutrino signal, the images provided by the follow-up observations are analysed with dedicated pipelines. A total of 42 alerts with optical and 7 alerts with X-ray images taken with a maximum delay of 24 hours after the neutrino trigger have been analysed. No optical or X-ray counterparts associated to the neutrino triggers have been found, and upper limits on transient source magnitudes have been derived. The probability to reject the gamma-ray burst origin hypothesis has been computed for each alert.
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Optical and X-ray early follow-up of ANTARES neutrino alerts
DOE Office of Scientific and Technical Information (OSTI.GOV)
Adrián-Martínez, S.; Ardid, M.; Ageron, M.
High-energy neutrinos could be produced in the interaction of charged cosmic rays with matter or radiation surrounding astrophysical sources. Even with the recent detection of extraterrestrial high-energy neutrinos by the IceCube experiment, no astrophysical neutrino source has yet been discovered. Transient sources, such as gamma-ray bursts, core-collapse supernovae, or active galactic nuclei are promising candidates. Multi-messenger programs offer a unique opportunity to detect these transient sources. By combining the information provided by the ANTARES neutrino telescope with information coming from other observatories, the probability of detecting a source is enhanced, allowing the possibility of identifying a neutrino progenitor from amore » single detected event. A method based on optical and X-ray follow-ups of high-energy neutrino alerts has been developed within the ANTARES collaboration. This method does not require any assumptions on the relation between neutrino and photon spectra other than time-correlation. This program, denoted as TAToO, triggers a network of robotic optical telescopes (TAROT and ROTSE) and the Swift-XRT with a delay of only a few seconds after a neutrino detection, and is therefore well-suited to search for fast transient sources. To identify an optical or X-ray counterpart to a neutrino signal, the images provided by the follow-up observations are analysed with dedicated pipelines. A total of 42 alerts with optical and 7 alerts with X-ray images taken with a maximum delay of 24 hours after the neutrino trigger have been analysed. No optical or X-ray counterparts associated to the neutrino triggers have been found, and upper limits on transient source magnitudes have been derived. The probability to reject the gamma-ray burst origin hypothesis has been computed for each alert.« less
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The effects of spectral tuning of evening ambient light on melatonin suppression, alertness and sleep.
PubMed
Rahman, Shadab A; St Hilaire, Melissa A; Lockley, Steven W
2017-08-01
We compared the effects of bedroom-intensity light from a standard fluorescent and a blue- (i.e., short-wavelength) depleted LED source on melatonin suppression, alertness, and sleep. Sixteen healthy participants (8 females) completed a 4-day inpatient study. Participants were exposed to blue-depleted circadian-sensitive (C-LED) light and a standard fluorescent light (FL, 4100K) of equal illuminance (50lx) for 8h prior to a fixed bedtime on two separate days in a within-subject, randomized, cross-over design. Each light exposure day was preceded by a dim light (<3lx) control at the same time 24h earlier. Compared to the FL condition, control-adjusted melatonin suppression was significantly reduced. Although subjective sleepiness was not different between the two light conditions, auditory reaction times were significantly slower under C-LED conditions compared to FL 30min prior to bedtime. EEG-based correlates of alertness corroborated the reduced alertness under C-LED conditions as shown by significantly increased EEG spectral power in the delta-theta (0.5-8.0Hz) bands under C-LED as compared to FL exposure. There was no significant difference in total sleep time (TST), sleep efficiency (SE%), and slow-wave activity (SWA) between the two conditions. Unlike melatonin suppression and alertness, a significant order effect was observed on all three sleep variables, however. Individuals who received C-LED first and then FL had increased TST, SE% and SWA averaged across both nights compared to individuals who received FL first and then C-LED. These data show that the spectral characteristics of light can be fine-tuned to attenuate non-visual responses to light in humans. Copyright © 2017 Elsevier Inc. All rights reserved.
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Design and implementation of low complexity wake-up receiver for underwater acoustic sensor networks
NASA Astrophysics Data System (ADS)
Yue, Ming
This thesis designs a low-complexity dual Pseudorandom Noise (PN) scheme for identity (ID) detection and coarse frame synchronization. The two PN sequences for a node are identical and are separated by a specified length of gap which serves as the ID of different sensor nodes. The dual PN sequences are short in length but are capable of combating severe underwater acoustic (UWA) multipath fading channels that exhibit time varying impulse responses up to 100 taps. The receiver ID detection is implemented on a microcontroller MSP430F5529 by calculating the correlation between the two segments of the PN sequence with the specified separation gap. When the gap length is matched, the correlator outputs a peak which triggers the wake-up enable. The time index of the correlator peak is used as the coarse synchronization of the data frame. The correlator is implemented by an iterative algorithm that uses only one multiplication and two additions for each sample input regardless of the length of the PN sequence, thus achieving low computational complexity. The real-time processing requirement is also met via direct memory access (DMA) and two circular buffers to accelerate data transfer between the peripherals and the memory. The proposed dual PN detection scheme has been successfully tested by simulated fading channels and real-world measured channels. The results show that, in long multipath channels with more than 60 taps, the proposed scheme achieves high detection rate and low false alarm rate using maximal-length sequences as short as 31 bits to 127 bits, therefore it is suitable as a low-power wake-up receiver. The future research will integrate the wake-up receiver with Digital Signal Processors (DSP) for payload detection.
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
PubMed Central
Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; DDD study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana
2018-01-01
Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. Methods Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. Results We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. Conclusion We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and disease severity. PMID:29097605
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Characteristics of napping in community-dwelling insomnia patients.
PubMed
Jang, Kwang Ho; Lee, Jung Hie; Kim, Seong Jae; Kwon, Hyo Jeong
2018-05-01
We aimed to determine napping characteristics of community-dwelling patients with insomnia disorder (ID) compared to characteristics of normal controls (NC), and to examine the effect of napping on nocturnal sleep. Adult volunteers who were more than 18 years old were recruited from three rural public health centers in Korea. Data from actigraphy recording and a sleep diary filled out for seven days were obtained. Finally, 115 ID patients and 80 NC subjects were included in this study. Parameters and timing of nocturnal sleep and nap were compared between the ID and NC groups. Two-way analysis of covariance (ANCOVA) was performed to determine the effect of ID diagnosis and napping on sleep parameters. Sleep efficiency (SE) in the ID group was significantly lower (p = 0.010), and wake time after sleep onset (WASO) was significantly greater (p = 0.023), compared to the NC group. There was no significant difference in nocturnal sleep or nap timing between the two groups. Nap frequency in the ID group was significantly higher than that in the NC group (p = 0.025). Although ID diagnosis and napping had no independent effect on fragmentation index, their interaction had a significant effect on fragmentation index (p = 0.021). Nap frequency was positively correlated with PSQI score (r = 0.166, p = 0.033). Insomnia patients showed no significant difference in nap timing or nap duration compared to NC subjects. However, insomnia patients showed higher nap frequency. Frequent napping was associated with poorer subjective sleep quality. Therefore, although napping might not have a negative impact on nocturnal sleep maintenance in NC subjects, it did have an effect on nocturnal sleep in insomnia patients. Copyright © 2018 Elsevier B.V. All rights reserved.
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Development and validation of the Learning Disabilities Needs Assessment Tool (LDNAT), a HoNOS-based needs assessment tool for use with people with intellectual disability.
PubMed
Painter, J; Trevithick, L; Hastings, R P; Ingham, B; Roy, A
2016-12-01
In meeting the needs of individuals with intellectual disabilities (ID) who access health services, a brief, holistic assessment of need is useful. This study outlines the development and testing of the Learning Disabilities Needs Assessment Tool (LDNAT), a tool intended for this purpose. An existing mental health (MH) tool was extended by a multidisciplinary group of ID practitioners. Additional scales were drafted to capture needs across six ID treatment domains that the group identified. LDNAT ratings were analysed for the following: item redundancy, relevance, construct validity and internal consistency (n = 1692); test-retest reliability (n = 27); and concurrent validity (n = 160). All LDNAT scales were deemed clinically relevant with little redundancy apparent. Principal component analysis indicated three components (developmental needs, challenging behaviour, MH and well-being). Internal consistency was good (Cronbach alpha 0.80). Individual item test-retest reliability was substantial-near perfect for 20 scales and slight-fair for three scales. Overall reliability was near perfect (intra-class correlation = 0.91). There were significant associations with five of six condition-specific measures, i.e. the Waisman Activities of Daily Living Scale (general ability/disability), Threshold Assessment Grid (risk), Behaviour Problems Inventory for Individuals with Intellectual Disabilities-Short Form (challenging behaviour) Social Communication Questionnaire (autism) and a bespoke physical health questionnaire. Additionally, the statistically significant correlations between these tools and the LDNAT components made sense clinically. There were no statistically significant correlations with the Psychiatric Assessment Schedules for Adults with Developmental Disabilities (a measure of MH symptoms in people with ID). The LDNAT had clinically utility when rating the needs of people with ID prior to condition-specific assessment(s). Analyses of internal and external validity were promising. Further evaluation of its sensitivity to changes in needs is now required. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.
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Randomised controlled trial of the efficacy of a blue-enriched light intervention to improve alertness and performance in night shift workers.
PubMed
Sletten, Tracey L; Ftouni, Suzanne; Nicholas, Christian L; Magee, Michelle; Grunstein, Ronald R; Ferguson, Sally; Kennaway, David J; O'Brien, Darren; Lockley, Steven W; Rajaratnam, Shantha M W
2017-11-01
Night workers often experience high levels of sleepiness due to misalignment of the sleep-wake cycle from the circadian pacemaker, in addition to acute and chronic sleep loss. Exposure to light, in particular short wavelength light, can improve alertness and neurobehavioural performance. This randomised controlled trial examined the efficacy of blue-enriched polychromatic light to improve alertness and neurobehavioural performance in night workers. Participants were 71 night shift workers (42 males; 32.8±10.5 years) who worked at least 6 hours between 22:00 and 08:00 hours. Sleep-wake logs and wrist actigraphy were collected for 1-3 weeks, followed by 48-hour urine collection to measure the circadian 6-sulphatoxymelatonin (aMT6s) rhythm. On the night following at least two consecutive night shifts, workers attended a simulated night shift in the laboratory which included subjective and objective assessments of sleepiness and performance. Workers were randomly assigned for exposure to one of two treatment conditions from 23:00 hours to 07:00 hours: blue-enriched white light (17 000 K, 89 lux; n=36) or standard white light (4000 K, 84 lux; n=35). Subjective and objective sleepiness increased during the night shift in both light conditions (p<0.05, η p 2 =0.06-0.31), but no significant effects of light condition were observed. The 17 000 K light, however, did improve subjective sleepiness relative to the 4000 K condition when light exposure coincided with the time of the aMT6s peak (p<0.05, d=0.41-0.60). This study suggests that, while blue-enriched light has potential to improve subjective sleepiness in night shift workers, further research is needed in the selection of light properties to maximise the benefits. The Australian New Zealand Clinical Trials Registry ACTRN12610000097044 (https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=320845&isReview=true). © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.