Results 111 to 120 of about 759,666 (309)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Perspective matters in recovery: the views of persons with severe mental illness, family and mental health professionals on collaboration during recovery, a qualitative study

BMC Psychiatry
Background Recovery from severe mental illness, including psychosis has been described as a personal and unique process, but it rarely is a journey undertaken without profound influences of significant others (family, mental health professionals ...
Thijs J. Burger, Robin M. van Eck, Marjolein Lachmeijer, Kimriek R. G. de Wilde-Schutten, Mette Lansen, Carola van Alphen, Niek van Haasteren, Karin Groen, Frederike Schirmbeck, Astrid Vellinga, Martijn J. Kikkert, Jack Dekker, Lieuwe de Haan, Mariken B. de Koning   +13 more
doaj   +1 more source

Positive Religious Coping and Associated Factors Among Participants with Severe Mental Illness Attending Felege Hiwot Comprehensive Specialized Hospital, Bahir Dar, Ethiopia, 2021

Psychology Research and Behavior Management, 2023
Belete Birhan,1 Netsanet Eristu2 1Department of Psychiatry, Wolaita Sodo University, College of Health Science and Medicine, Wolaita Sodo, Ethiopia; 2Department of Psychiatry, Dire Dawa University, College of Medicine and Health Science, Dire Dawa ...
Birhan B, Eristu N
doaj  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Prediction of cardiovascular disease risk among people with severe mental illness: A cohort study.

PLoS ONE, 2019
ObjectiveTo determine whether contemporary sex-specific cardiovascular disease (CVD) risk prediction equations underestimate CVD risk in people with severe mental illness from the cohort in which the equations were derived.MethodsWe identified people ...
Ruth Cunningham, Katrina Poppe, Debbie Peterson, Susanna Every-Palmer, Ian Soosay, Rod Jackson   +5 more
doaj   +1 more source

The impact of poverty on mental health and well-being and the necessity for integrated social policies in Romania [PDF]

On almost every account people with mental health problems are among the most excluded groups in society and they consistently identify stigmatisation, discrimination and exclusion as major barriers to health, welfare and quality of life.
Carmen Beatrice Pauna, Marioara Iordan, Raluca Sfetcu   +2 more
core  

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source