Try a new search

Format these results:

Searched for:

school:SOM

Department/Unit:Child and Adolescent Psychiatry

Total Results:

11202


Psychometric properties of the Persian version of preschool age psychiatric assessment (PAPA) for attention-deficit/hyperactivity disorder: Based on DSM-5

Hassanzadeh, Mohammadbagher; Malek, Ayyoub; Norouzi, Sanaz; Amiri, Shahrokh; Sadeghi-Bazargani, Homayoun; Shahriari, Farshid; Egger, Helen Link; Small, Brian
Childhood and adolescence psychiatric disorders affect subsequent stages; early diagnosis of these disorders, such as attention-deficit/hyperactivity disorder (ADHD), is necessary. There is no reliable and valid diagnostic interview for ADHD in Asian Persian or Farsi speaking countries. The DSM 5-based version of the interview was sent to the 14 child and adolescent and general psychiatrists to ensure the validity of the ADHD section of the PAPA interview through an online website. Out of 59 health centers, 15 centers were selected via systematic random sampling. Three hundred children participated in the study. ADHD questions of the PAPA had the power to differentiate, with a sensitivity of 0.92, a specificity of 0.01. It had positive diagnostic value = 95.83 %, negative diagnostic value = 98.91 %, negative correlation ratio = 0.12, overall diagnostic accuracy = 98.67 % and diagnostic chance ratio = 2085.35. ADHD questions of the PAPA diagnostic interview can diagnose ADHD in preschool as a reliable tool based on DSM-5.
PMID: 33652288
ISSN: 1876-2026
CID: 4801402

Developmental Assets of Adolescents and Young Adults With Chronic Illness and Comorbid Depression: Qualitative Study Using YouTube

Zheng, Katherine; George, Maureen; Roehlkepartain, Eugene; Santelli, John; Bruzzese, Jean-Marie; Smaldone, Arlene
BACKGROUND:Developmental assets provide a framework for optimizing development among adolescents but have not been studied in adolescents with chronic illness and comorbid depression, which is a group at risk for poor health outcomes. YouTube postings provide valuable insights to understand this understudied population. OBJECTIVE:This study aims to explore asset development from the perspectives of adolescents and young adults (AYAs) with chronic illness and comorbid depression. METHODS:YouTube was searched using 12 chronic illnesses (eg, diabetes) coupled with "depression" as keywords. Videos were included if they were uploaded by AYAs aged between 11 and 29 years and discussed living with chronic illness and depression during adolescence. Video transcripts were coded deductively for 40 internal and external assets that constitute the Developmental Assets Framework. Categories not captured by deductive coding were identified using conventional content analysis. Categories and their respective assets were labeled as being discussed either negatively or positively. RESULTS:In total, 31 videos from 16 AYAs met the inclusion criteria. A total of 7 asset categories, support, constructive use of time, boundaries and expectations (external assets), identity, commitment to learning, positive values, and social competence (internal assets), reflecting 25 (13 internal; 12 external) assets, were discussed. Internal assets, particularly relating to identity, were commonly discussed by AYAs either in a negative way or fluctuated between positive and negative perspectives. CONCLUSIONS:In this sample of AYAs with chronic illness and comorbid depression, internal assets were commonly discussed in a negative way. Future research is needed to better understand how assets develop and if the Developmental Assets Framework adequately represents the experiences of this population.
PMID: 33591288
ISSN: 2368-7959
CID: 4786632

The Utility of the Repeatable Battery of Neuropsychological Status in Patients with Temporal and Non-temporal Lobe Epilepsy

Maiman, Moshe; Del Bene, Victor A; Farrell, Eileen; MacAllister, William S; Sheldon, Sloane; Rentería, Miguel Arce; Slugh, Mitchell; Gazzola, Deana M; Barr, William B
OBJECTIVE:The Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) is a brief neuropsychological battery that has been validated in the assessment of dementia and other clinical populations. The current study examines the utility of the RBANS in patients with epilepsy. METHODS:Ninety-eight patients with epilepsy completed the RBANS as part of a more comprehensive neuropsychological evaluation. Performance on the RBANS was evaluated for patients with a diagnosis of temporal lobe epilepsy (TLE; n = 51) and other epilepsy patients (non-TLE, n = 47) in comparison to published norms. Multivariate analysis of variance compared group performances on RBANS indices. Rates of impairment were also compared across groups using cutoff scores of ≤1.0 and ≤1.5 standard deviations below the normative mean. Exploratory hierarchical regressions were used to examine the relations between epilepsy severity factors (i.e., age of onset, disease duration, and number of antiepileptic drugs [AEDs]) and RBANS performance. RESULTS:TLE and non-TLE patients performed below the normative sample across all RBANS indices. Those with TLE performed worse than non-TLE patients on the Immediate and Delayed Memory indices and exhibited higher rates of general cognitive impairment. Number of AEDs was the only epilepsy severity factor that significantly predicted RBANS total performance, accounting for 14% of the variance. CONCLUSIONS:These findings suggest that the RBANS has utility in evaluating cognition in patients with epilepsy and can differentiate TLE and non-TLE patients. Additionally, number of AEDs appears to be associated with global cognitive performance in adults with epilepsy.
PMID: 31761928
ISSN: 1873-5843
CID: 4215572

Acceptability, Validity, and Engagement With a Mobile App for Frequent, Continuous Multiyear Assessment of Youth Health Behaviors (mNCANDA): Mixed Methods Study

Cummins, Kevin M; Brumback, Ty; Chung, Tammy; Moore, Raeanne C; Henthorn, Trevor; Eberson, Sonja; Lopez, Alyssa; Sarkissyan, Tatev; Nooner, Kate B; Brown, Sandra A; Tapert, Susan F
BACKGROUND:Longitudinal studies of many health behaviors often rely on infrequent self-report assessments. The measurement of psychoactive substance use among youth is expected to improve with more frequent mobile assessments, which can reduce recall bias. Researchers have used mobile devices for longitudinal research, but studies that last years and assess youth continuously at a fine-grained, temporal level (eg, weekly) are rare. A tailored mobile app (mNCANDA [mobile National Consortium on Alcohol and Neurodevelopment in Adolescence]) and a brief assessment protocol were designed specifically to provide a feasible platform to elicit responses to health behavior assessments in longitudinal studies, including NCANDA (National Consortium on Alcohol and Neurodevelopment in Adolescence). OBJECTIVE:This study aimed to determine whether an acceptable mobile app system could provide repeatable and valid assessment of youth's health behaviors in different developmental stages over extended follow-up. METHODS:Participants were recruited (n=534; aged 17-28 years) from a larger longitudinal study of neurodevelopment. Participants used mNCANDA to register reports of their behaviors for up to 18 months. Response rates as a function of time measured using mNCANDA and participant age were modeled using generalized estimating equations to evaluate response rate stability and age effects. Substance use reports captured using mNCANDA were compared with responses from standardized interviews to assess concurrent validity. Reactivity was assessed by evaluating patterns of change in substance use after participants initiated weekly reports via mNCANDA. Quantitative feedback about the app was obtained from the participants. Qualitative interviews were conducted with a subset of participants who used the app for at least one month to obtain feedback on user experience, user-derived explanations of some quantitative results, and suggestions for system improvements. RESULTS:The mNCANDA protocol adherence was high (mean response rate 82%, SD 27%) and stable over time across all age groups. The median time to complete each assessment was 51 s (mean response time 1.14, SD 1.03 min). Comparisons between mNCANDA and interview self-reports on recent (previous 30 days) alcohol and cannabis use days demonstrate close agreement (eg, within 1 day of reported use) for most observations. Models used to identify reactivity failed to detect changes in substance use patterns subsequent to enrolling in mNCANDA app assessments (P>.39). Most participants (64/76, 84%) across the age range reported finding the mNCANDA system acceptable. Participants provided recommendations for improving the system (eg, tailoring signaling times). CONCLUSIONS:mNCANDA provides a feasible, multi-year, continuous, fine-grained (eg, weekly) assessment of health behaviors designed to minimize respondent burden and provides acceptable regimes for long-term self-reporting of health behaviors. Fine-grained characterization of variability in behaviors over relatively long periods (eg, up to 18 months) may, through the use of mNCANDA, improve our understanding of the relationship between substance use exposure and neurocognitive development.
PMCID:7904399
PMID: 33565988
ISSN: 2291-5222
CID: 4802222

Associations between childhood maltreatment, poor sleep, and prenatal distress in pregnant adolescents

Foss, Sophie; Gustafsson, Hanna C; Berry, Obianuju O; Hipwell, Alison E; Werner, Elizabeth A; Peterson, Bradley S; Monk, Catherine
Childhood maltreatment (CM) is a known risk factor for adolescent pregnancy. Sleep disturbances and psychological distress, both common negative sequelae of CM, often co-occur during pregnancy, although directionality remains unclear. Furthermore, little is known about how CM affects sleep-distress associations during pregnancy. In pregnant adolescents, we examined: (a) whether there are significant predictive associations from CM to sleep quality and distress and (b) bidirectional influences of distress and sleep quality. Healthy pregnant adolescents (n = 204) were recruited before or during the 2nd trimester. CM was assessed at enrollment; sleep quality and distress were assessed in the 2nd and 3rd trimesters. Hypotheses were tested using path analysis. Findings revealed that CM was associated with worse 2nd trimester sleep quality and distress (β = .19, p < .05 for sleep; β = .30, p < .001 for distress). Higher levels of 2nd trimester distress were associated with lower 3rd trimester sleep quality (β = .19, p < .05). Findings provide novel information about (a) associations from CM to prenatal mood and sleep in pregnant adolescents, and (b) sleep-distress directionality over the course of pregnancy. These results have implications for better understanding the ways in which CM potentially exerts influences later in life, and for targeting interventions to address physical and mental health during pregnancy.
PMCID:8349382
PMID: 33551015
ISSN: 1469-2198
CID: 5173552

Oxytocin Modulates the Intrinsic Dynamics Between Attention-Related Large-Scale Networks

Xin, Fei; Zhou, Feng; Zhou, Xinqi; Ma, Xiaole; Geng, Yayuan; Zhao, Weihua; Yao, Shuxia; Dong, Debo; Biswal, Bharat B; Kendrick, Keith M; Becker, Benjamin
Attention and salience processing have been linked to the intrinsic between- and within-network dynamics of large-scale networks engaged in internal (default network [DN]) and external attention allocation (dorsal attention network [DAN] and salience network [SN]). The central oxytocin (OXT) system appears ideally organized to modulate widely distributed neural systems and to regulate the switch between internal attention and salient stimuli in the environment. The current randomized placebo (PLC)-controlled between-subject pharmacological resting-state fMRI study in N = 187 (OXT, n = 94; PLC, n = 93; single-dose intranasal administration) healthy male and female participants employed an independent component analysis approach to determine the modulatory effects of OXT on the within- and between-network dynamics of the DAN–SN–DN triple network system. OXT increased the functional integration between subsystems within SN and DN and increased functional segregation of the DN with both attentional control networks (SN and DAN). Whereas no sex differences were observed, OXT effects on the DN–SN interaction were modulated by autistic traits. Together, the findings suggest that OXT may facilitate efficient attention allocation by modulating the intrinsic functional dynamics between DN components and large-scale networks involved in external attentional demands (SN and DAN)./UNASSIGNED/:
PMID: 30535355
ISSN: 1460-2199
CID: 3678922

Mapping Progressive Gray Matter Alterations in Early Childhood Autistic Brain

Guo, Xiaonan; Duan, Xujun; Suckling, John; Wang, Jia; Kang, Xiaodong; Chen, Heng; Biswal, Bharat B; Cao, Jing; He, Changchun; Xiao, Jinming; Huang, Xinyue; Wang, Runshi; Han, Shaoqiang; Fan, Yun-Shuang; Guo, Jing; Zhao, Jingping; Wu, Lijie; Chen, Huafu
Autism spectrum disorder is an early-onset neurodevelopmental condition. This study aimed to investigate the progressive structural alterations in the autistic brain during early childhood. Structural magnetic resonance imaging scans were examined in a cross-sectional sample of 67 autistic children and 63 demographically matched typically developing (TD) children, aged 2-7 years. Voxel-based morphometry and a general linear model were used to ascertain the effects of diagnosis, age, and a diagnosis-by-age interaction on the gray matter volume. Causal structural covariance network analysis was performed to map the interregional influences of brain structural alterations with increasing age. The autism group showed spatially distributed increases in gray matter volume when controlling for age-related effects, compared with TD children. A significant diagnosis-by-age interaction effect was observed in the fusiform face area (FFA, Fpeak = 13.57) and cerebellum/vermis (Fpeak = 12.73). Compared with TD children, the gray matter development of the FFA in autism displayed altered influences on that of the social brain network regions (false discovery rate corrected, P < 0.05). Our findings indicate the atypical neurodevelopment of the FFA in the autistic brain during early childhood and highlight altered developmental effects of this region on the social brain network.
PMID: 33123725
ISSN: 1460-2199
CID: 4646902

Cannabinoid treatment for autism: a proof-of-concept randomized trial

Aran, Adi; Harel, Moria; Cassuto, Hanoch; Polyansky, Lola; Schnapp, Aviad; Wattad, Nadia; Shmueli, Dorit; Golan, Daphna; Castellanos, F Xavier
BACKGROUND:Endocannabinoid dysfunction in animal models of autism spectrum disorder (ASD) and accumulating, albeit anecdotal, evidence for efficacy in humans motivated this placebo-controlled double-blind comparison of two oral cannabinoid solutions in 150 participants (age 5-21 years) with ASD. METHODS:We tested (1) BOL-DP-O-01-W, a whole-plant cannabis extract containing cannabidiol and Δ9-tetrahydrocannabinol at a 20:1 ratio and (2) BOL-DP-O-01, purified cannabidiol and Δ9-tetrahydrocannabinol at the same ratio. Participants (N = 150) received either placebo or cannabinoids for 12-weeks (testing efficacy) followed by a 4-week washout and predetermined cross-over for another 12 weeks to further assess tolerability. Registered primary efficacy outcome measures were improvement in behavioral problems (differences between whole-plant extract and placebo) on the Home Situation Questionnaire-ASD (HSQ-ASD) and the Clinical Global Impression-Improvement scale with disruptive behavior anchor points (CGI-I). Secondary measures were Social Responsiveness Scale (SRS-2) and Autism Parenting Stress Index (APSI). RESULTS:Changes in Total Scores of HSQ-ASD (primary-outcome) and APSI (secondary-outcome) did not differ among groups. Disruptive behavior on the CGI-I (co-primary outcome) was either much or very much improved in 49% on whole-plant extract (n = 45) versus 21% on placebo (n = 47; p = 0.005). Median SRS Total Score (secondary-outcome) improved by 14.9 on whole-plant extract (n = 34) versus 3.6 points after placebo (n = 36); p = 0.009). There were no treatment-related serious adverse events. Common adverse events included somnolence and decreased appetite, reported for 28% and 25% on whole-plant extract, respectively (n = 95); 23% and 21% on pure-cannabinoids (n = 93), and 8% and 15% on placebo (n = 94). Limitations Lack of pharmacokinetic data and a wide range of ages and functional levels among participants warrant caution when interpreting the results. CONCLUSIONS:This interventional study provides evidence that BOL-DP-O-01-W and BOL-DP-O-01, administrated for 3 months, are well tolerated. Evidence for efficacy of these interventions are mixed and insufficient. Further testing of cannabinoids in ASD is recommended. Trial registration ClinicalTrials.gov: NCT02956226. Registered 06 November 2016, https://clinicaltrials.gov/ct2/show/NCT02956226.
PMCID:7860205
PMID: 33536055
ISSN: 2040-2392
CID: 4798992

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Dewan, Ramita; Chia, Ruth; Ding, Jinhui; Hickman, Richard A; Stein, Thor D; Abramzon, Yevgeniya; Ahmed, Sarah; Sabir, Marya S; Portley, Makayla K; Tucci, Arianna; Ibáñez, Kristina; Shankaracharya, F N U; Keagle, Pamela; Rossi, Giacomina; Caroppo, Paola; Tagliavini, Fabrizio; Waldo, Maria L; Johansson, Per M; Nilsson, Christer F; Rowe, James B; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Jabbari, Edwin; Viollet, Coralie; Glass, Jonathan D; Singleton, Andrew B; Silani, Vincenzo; Ross, Owen A; Ryten, Mina; Torkamani, Ali; Tanaka, Toshiko; Ferrucci, Luigi; Resnick, Susan M; Pickering-Brown, Stuart; Brady, Christopher B; Kowal, Neil; Hardy, John A; Van Deerlin, Vivianna; Vonsattel, Jean Paul; Harms, Matthew B; Morris, Huw R; Ferrari, Raffaele; Landers, John E; Chiò, Adriano; Gibbs, J Raphael; Dalgard, Clifton L; Scholz, Sonja W; Traynor, Bryan J; Adeleye, Adelani; Alba, Camille; Bacikova, Dagmar; Hupalo, Daniel N; Martinez, Elisa McGrath; Pollard, Harvey B; Sukumar, Gauthaman; Soltis, Anthony R; Tuck, Meila; Zhang, Xijun; Wilkerson, Matthew D; Smith, Bradley N; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon D; Kost, Jason; Scotter, Emma L; Kenna, Kevin P; Miller, Jack W; Tiloca, Cinzia; Vance, Caroline; Danielson, Eric W; Troakes, Claire; Colombrita, Claudia; Al-Sarraj, Safa; Lewis, Elizabeth A; King, Andrew; Calini, Daniela; Pensato, Viviana; Castellotti, Barbara; de Belleroche, Jacqueline; Baas, Frank; Ten Asbroek, Anneloor L M A; Sapp, Peter C; McKenna-Yasek, Diane; McLaughlin, Russell L; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Muñoz-Blanco, José Luis; Stevic, Zorica; D'Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; van Rheenen, Wouter; Diekstra, Frank P; Rademakers, Rosa; van Blitterswijk, Marka; Boylan, Kevin B; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Williams, Kelly L; Nicholson, Garth A; Blair, Ian P; Leblond-Manry, Claire; Rouleau, Guy A; Hardiman, Orla; Morrison, Karen E; Veldink, Jan H; van den Berg, Leonard H; Al-Chalabi, Ammar; Pall, Hardev; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Taroni, Franco; García-Redondo, Alberto; Wu, Zheyang; Gellera, Cinzia; Ratti, Antonia; Brown, Robert H Jr; Shaw, Christopher E; Ambrose, John C; Arumugam, Prabhu; Baple, Emma L; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M; Boustred, Christopher R; Brittain, H; Caulfield, Mark J; Chan, Georgia C; Craig, Clare E H; Daugherty, Louise C; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E; Fowler, Tom; Furió-Tarí, Pedro; Hackett, Joanne M; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James E; Hubbard, Tim J P; Jackson, Rob; Jones, Louise J; Kasperaviciute, Dalia; Kayikci, Melis; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E A; Leong, Ivonne U S; Lopez, Javier F; Maleady-Crowe, Fiona; Mason, Joanne; McDonagh, Ellen M; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C; Odhams, Chris A; Patch, Christine; Perez-Gil, Daniel; Polychronopoulos, Dimitris; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Riesgo-Ferreiro, Pablo; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Smith, Katherine R; Sosinsky, Alona; Spooner, William; Stevens, Helen E; Stuckey, Alexander; Sultana, Razvan; Thomas, Ellen R A; Thompson, Simon R; Tregidgo, Carolyn; Walsh, Emma; Watters, Sarah A; Welland, Matthew J; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M; Zarowiecki, Magdalena; Arepalli, Sampath; Auluck, Pavan; Baloh, Robert H; Bowser, Robert; Brice, Alexis; Broach, James; Camu, William; Chiò, Adriano; Cooper-Knock, John; Corcia, Philippe; Drepper, Carsten; Drory, Vivian E; Dunckley, Travis L; Faghri, Faraz; Farren, Jennifer; Feldman, Eva; Floeter, Mary Kay; Fratta, Pietro; Gerhard, Glenn; Gibson, Summer B; Goutman, Stephen A; Heiman-Patterson, Terry D; Hernandez, Dena G; Hoover, Ben; Jansson, Lilja; Kamel, Freya; Kirby, Janine; Kowall, Neil W; Laaksovirta, Hannu; Landi, Francesco; Le Ber, Isabelle; Lumbroso, Serge; MacGowan, Daniel Jl; Maragakis, Nicholas J; Mora, Gabriele; Mouzat, Kevin; Myllykangas, Liisa; Nalls, Mike A; Orrell, Richard W; Ostrow, Lyle W; Pamphlett, Roger; Pioro, Erik; Pulst, Stefan M; Ravits, John M; Renton, Alan E; Robberecht, Wim; Robey, Ian; Rogaeva, Ekaterina; Rothstein, Jeffrey D; Sendtner, Michael; Shaw, Pamela J; Sidle, Katie C; Simmons, Zachary; Stone, David J; Tienari, Pentti J; Trojanowski, John Q; Troncoso, Juan C; Valori, Miko; Van Damme, Philip; Van Den Bosch, Ludo; Zinman, Lorne; Albani, Diego; Borroni, Barbara; Padovani, Alessandro; Bruni, Amalia; Clarimon, Jordi; Dols-Icardo, Oriol; Illán-Gala, Ignacio; Lleó, Alberto; Danek, Adrian; Galimberti, Daniela; Scarpini, Elio; Serpente, Maria; Graff, Caroline; Chiang, Huei-Hsin; Khoshnood, Behzad; Öijerstedt, Linn; Morris, Christopher M; Nacmias, Benedetta; Sorbi, Sandro; Nielsen, Jorgen E; Hjermind, Lynne E; Novelli, Valeria; Puca, Annibale A; Pastor, Pau; Alvarez, Ignacio; Diez-Fairen, Monica; Aguilar, Miquel; Perneczky, Robert; Diehl-Schimd, Janine; Rogaeva, Ekaterina; Rossi, Mina; Ruiz, Agustin; Boada, Mercè; Hernández, Isabel; Moreno-Grau, Sonia; Schlachetzki, Johannes C; Aarsland, Dag; Alba, Camille; Albert, Marilyn S; Al-Sarraj, Safa; Attems, Johannes; Bacikova, Dagmar; Barrett, Matthew J; Beach, Thomas G; Bekris, Lynn M; Bennett, David A; Besser, Lilah M; Bigio, Eileen H; Black, Sandra E; Boeve, Bradley F; Bohannan, Ryan C; Brett, Francesca; Brice, Alexis; Brunetti, Maura; Caraway, Chad A; Palma, Jose-Alberto; Calvo, Andrea; Canosa, Antonio; Clarimon, Jordi; Dickson, Dennis; Diez-Fairen, Monica; Duyckaerts, Charles; Faber, Kelley; Ferman, Tanis; Flanagan, Margaret E; Floris, Gianluca; Foroud, Tatiana M; Fortea, Juan; Gan-Or, Ziv; Gentleman, Steve; Ghetti, Bernardino; Gibbs, Jesse Raphael; Goate, Alison; Goldstein, David; González-Aramburu, Isabel; Graff-Radford, Neill R; Hodges, Angela K; Hu, Heng-Chen; Hupalo, Daniel; Infante, Jon; Iranzo, Alex; Kaiser, Scott M; Kaufmann, Horacio; Keith, Julia; Kim, Ronald C; Klein, Gregory; Krüger, Rejko; Kukull, Walter; Kuzma, Amanda; Lage, Carmen; Lesage, Suzanne; Lleó, Alberto; Leverenz, James B; Logroscino, Giancarlo; Lopez, Grisel; Love, Seth; Mao, Qinwen; Marti, Maria Jose; Martinez-McGrath, Elisa; Masellis, Mario; Masliah, Eliezer; May, Patrick; McKeith, Ian; Mesulam, Marek-Marsel; Monuki, Edwin S; Morris, Christopher M; Newell, Kathy L; Norcliffe-Kaufmann, Lucy; Palmer, Laura; Pastor, Pau; Perkins, Matthew; Pletnikova, Olga; Molina-Porcel, Laura; Renton, Alan E; Reynolds, Regina H; Rodríguez-Rodríguez, Eloy; Rogaeva, Ekaterina; Rohrer, Jonathan D; Sanchez-Juan, Pascual; Scherzer, Clemens R; Serrano, Geidy E; Shakkottai, Vikram; Sidransky, Ellen; Tayebi, Nahid; Thomas, Alan J; Tilley, Bension S; Troakes, Claire; Troncoso, Juan C; Walton, Ronald L; Woltjer, Randy; Wszolek, Zbigniew K; Xiromerisiou, Georgia; Zecca, Chiara; Phatnani, Hemali; Kwan, Justin; Sareen, Dhruv; Broach, James R; Simmons, Zachary; Arcila-Londono, Ximena; Lee, Edward B; Shneider, Neil A; Fraenkel, Ernest; Ostrow, Lyle W; Baas, Frank; Zaitlen, Noah; Berry, James D; Malaspina, Andrea; Fratta, Pietro; Cox, Gregory A; Thompson, Leslie M; Finkbeiner, Steve; Dardiotis, Efthimios; Miller, Timothy M; Chandran, Siddharthan; Pal, Suvankar; Hornstein, Eran; MacGowan, Daniel J; Heiman-Patterson, Terry; Hammell, Molly G; Patsopoulos, Nikolaos A; Butovsky, Oleg; Dubnau, Joshua; Nath, Avindra; Bowser, Robert; Harms, Matt; Aronica, Eleonora; Poss, Mary; Phillips-Cremins, Jennifer; Crary, John; Atassi, Nazem; Lange, Dale J; Adams, Darius J; Stefanis, Leonidas; Gotkine, Marc; Baloh, Robert H; Babu, Suma; Raj, Towfique; Paganoni, Sabrina; Shalem, Ophir; Smith, Colin; Zhang, Bin; Harris, Brent; Broce, Iris; Drory, Vivian; Ravits, John; McMillan, Corey; Menon, Vilas; Wu, Lani; Altschuler, Steven; Amar, Khaled; Archibald, Neil; Bandmann, Oliver; Capps, Erica; Church, Alistair; Coebergh, Jan; Costantini, Alyssa; Critchley, Peter; Ghosh, Boyd Cp; Hu, Michele T M; Kobylecki, Christopher; Leigh, P Nigel; Mann, Carl; Massey, Luke A; Morris, Huw R; Nath, Uma; Pavese, Nicola; Paviour, Dominic; Sharma, Jagdish; Vaughan, Jenny
We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.
PMID: 33242422
ISSN: 1097-4199
CID: 5429222

Do ADHD Symptoms, Executive Function, and Study Strategies Predict Temporal Reward Discounting in College Students with Varying Levels of ADHD Symptoms? A Pilot Study

Scheres, Anouk; Solanto, Mary V
The purpose of this study was to examine the relationship between temporal reward discounting and attention deficit hyperactivity disorder (ADHD) symptoms in college students. Additionally, we examined whether temporal reward discounting was associated with executive functioning in daily life and with learning and study strategies in this group. Thirty-nine college students (19 with ADHD and 20 controls) participated after meeting criteria for ADHD or non-ADHD based on standardized assessment. Strong preferences for small immediate rewards were specifically associated with the ADHD symptom domain hyperactivity-impulsivity. Additionally, these preferences were associated with daily life executive function problems and with weak learning and study strategies. This suggests that steep temporal discounting may be a key mechanism playing a role in the daily life challenges that college students with ADHD symptoms face. If these findings are replicated in larger samples, then intervention strategies may profitably be developed to counteract this strong preference for small immediate rewards in college students with ADHD symptoms.
PMID: 33540665
ISSN: 2076-3425
CID: 4776632