Results 21 to 30 of about 522,524 (341)

Impact of Hoarding and Obsessive–Compulsive Disorder Symptomatology on Quality of Life and Their Interaction With Depression Symptomatology

Frontiers in Psychology, 2022
Hoarding disorder (HD) is a psychiatric condition characterized by difficulty discarding items and accumulation of clutter. Although studies have established the negative impact of HD and compulsive hoarding behavior, fewer have examined the impact on ...
Binh K. Nguyen, Binh K. Nguyen, Jessica J. Zakrzewski, Jessica J. Zakrzewski, Luis Sordo Vieira, Luis Sordo Vieira, Luis Sordo Vieira, Carol A. Mathews, Carol A. Mathews   +8 more
doaj   +1 more source

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

Circulating PACAP levels are associated with altered imaging measures of entorhinal cortex neurite density in posttraumatic stress disorder

European Journal of Psychotraumatology
Introduction: Pituitary adenylate cyclase-activating polypeptide (PACAP) regulates plasticity in brain systems underlying arousal and memory and is associated with posttraumatic stress disorder (PTSD).
Steven J. Granger, Victor May, Sayamwong E. Hammack, Eylül Akman, Sydney A. Jobson, Elizabeth A. Olson, Cameron D. Pernia, Nikos P. Daskalakis, Caitlin Ravichandran, William A. Carlezon, Kerry J. Ressler, Scott L. Rauch, Isabelle M. Rosso   +12 more
doaj   +1 more source

Teaching perspectives on the communication of difficult news of genetic conditions to medical students

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023
Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse, Tracey Weiler, Elizabeth A. Roth, Sharmila Upadhya, Helga V. Toriello, Ariel J. VanLeuven, John R. Norris, John C. Carey, Andrew K. Sobering   +8 more
wiley   +1 more source

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia   +8 more
wiley   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

Specific symptom change associated with ecological momentary assessments of intrusive trauma memories

NPP-Digital Psychiatry and Neuroscience
As the global prevalence of exposure to traumatic events rises, there is a growing need for accessible and scalable treatments for trauma-related disorders like posttraumatic stress disorder (PTSD).
Yara Pollmann, Kevin J. Clancy, Quentin Devignes, Boyu Ren, Milissa L. Kaufman, Isabelle M. Rosso   +5 more
doaj   +1 more source

Individual-level Anxiety Detection and Prediction from Longitudinal YouTube and Google Search Engagement Logs [PDF]

arXiv, 2020
Anxiety disorder is one of the world's most prevalent mental health conditions, arising from complex interactions of biological and environmental factors and severely interfering one's ability to lead normal life activities. Current methods for detecting anxiety heavily rely on in-person interviews, which can be expensive, time-consuming, and blocked ...
arxiv  

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023
Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, Giovanni Michelini, Francesca Dall'Ara, Claudia Rigamonti, Federico Monti, Paola Giovanna Vizziello, Angelo Selicorni, Donatella Milani, Simona Scaini, Antonella Costantino   +11 more
wiley   +1 more source