Results 181 to 190 of about 2,586,239 (298)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen, Elleke Tissink, Reeteka Sud, Mandy Johnstone, Richard Josiassen, Andrea Lahti, Laura Huckins, Ariana Page, Stigma Reduction Interest Group of the ISPG, Jordan W. Smoller, Jehannine Austin, Janneke Zinkstok, Sarah E. Medland, Rada Veeneman, Anna R. Docherty   +14 more
wiley   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

A next generation of the schema therapy model of personality pathology: A cross-cultural and international study protocol. [PDF]

PLoS One
Mamali FC, Rijkeboer M, Molenaar D, Rameckers SA, Panzeri M, Arntz A, Lee CW, Brockman R, Ho Tan D, Mozumder MK, Gayen TK, Dyakov D, Stabrouskaya Y, Gatam A, Lobanovich V, Kanavina S, Romanovich V, Andreevich OA, Tkhoryk N, Shabaikovich A, Dierckx E, Pauwels E, Eggermont K, Matos FR, Puléo Barela R, Frossard LQ, Lazarova IS, Peneva K, Katrandjieva A, St Lazarova A, Zhu Y, Lyu B, Liu Y, Li L, Qin H, Guo X, Hu X, Zhang S, Ma OYT, Tang ALY, Moeller SB, Arendt ITP, Bach B, Meline J, Tapia G, M'bailara K, Abdushelishvili K, Begiashvili A, Badrishvili N, Gvinianidze A, Akopashvili L, Khabazi I, Kopf-Beck J, Leithne C, Renner F, Egli S, Quaatz SM, Malogiannis IA, Giannoulis E, Simos G, Unoka Z, Simon L, Simon V, Munivenkatappa M, Sudhir PM, Kohli TK, Shrivastava A, Misra AA, Khanna A, Louis JP, Santoso NM, Shanti TI, Witarso LS, Hedayati M, Samimi A, Malekasgar S, Basile B, Krone I, Orupe A, Gecaite-Stonciene J, Pociunaite J, Renee Tan HJ, Chan E, Heimkumar V, Kadri N, Karroumi S, Chentaf FZ, Ezzahiri N, Rachidi H, Bouchebti S, Bouidar H, Hikmat W, Chroukate F, Ennaciri Z, Thimm JC, Lorentzen V, Michałowski JM, Popiel AE, Mącik D, Browarczyk WM, Céu Salvador MD, Păduraru AE, Semeniuc SE, Stroian PI, Șubredu I, Yaltonskaya A, Maryasova D, Titova O, Gegel N, Gorodentseva N, Skryabina M, Plichko A, Pavlova O, Prokaeva S, Malashchanka V, Michelle Neo HL, Stein DJ, Hawa W, Hartmann JP, Lee E, Song Y, Gómez-Juanes R, Calvete E, Cid J, Schmidt RE, Homan S, Sakulsriprasert C, Phukao D, Thawornwutichat R, Mamoon W, Chandraungs A, Supreeyaporn N, Bachrach N, Keulen-de Vos M, Lobbestael J, Dorrestijn E, Krans J, Yakin D, Baştak D, Taşlioğlu Sayiner AC, İnce B, Tasilaridis S, Ergelen M, Kennedy FC, Taylor CDJ, First MB, Lockwood G, Appenzeller Z, Norton AR, Seeley-Wait E, Abbott MJ, Allen KL, Hasan S, Morales Hernández SA, Sharaf AM, Ruths FA.   +155 more
europepmc   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Associations Among Interparental Violence, Maternal Depression and Behavioural Difficulties in Preschool-Aged Children in Jamaica. [PDF]

Int J Psychol
Kelly-Williams S, Roopnarine JL, Krishnakumar A, Ong'ayi DMM.   +3 more
europepmc   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Social Determinants of Health and Health‐Related Quality of Life: The Potential Mediating Role of Social Activities, Access to Medical Services, and Access to Social Services

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study explored the mediating influences of access to social activities, social services, and health and medical services on the relationship between social determinants of health and health‐related quality of life. A survey of 602 adults was conducted in a regional area of Australia.
Candice Oster, Ashleigh Powell, Claire Hutchinson, Richard Leibbrandt, Svetlana Bogomolova   +4 more
wiley   +1 more source

Biobehavioral synchrony between three to four months old infants and psychologically healthy mothers during the face-to-face still-face paradigm. [PDF]

Sci Rep
Woelflein L, Brenner I, Koenig J, Böhm I, Eckstein M, Ditzen B, Nonnenmacher N, Woll-Weber CFJ, Müller M, Christiansen H, Schwenck C, Steinmayr R, Wirthwein L, Kieser M, Otto K, Reck C, Zietlow AL.   +16 more
europepmc   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source