Results 101 to 110 of about 39,351 (290)

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Genome‐Wide Association Study of Symptom Change Following Cognitive Behavioral Therapy for Common Mental Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Cognitive behavioral therapy (CBT) is a well‐established, evidence‐based treatment for common mental disorders such as depression, anxiety disorders, and obsessive‐compulsive disorder (OCD). However, treatment outcomes vary widely, and a substantial proportion of patients do not achieve sufficient improvement.
Julia Bäckman, Olly Kravchenko, Matthew Halvorsen, Elles de Schipper, Ekaterina Ivanova, Viktor Kaldo, Nils Hentati Isacsson, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, David Mataix‐Cols, James J. Crowley, John Wallert, Christian Rück, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long‐Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert   +41 more
wiley   +1 more source

Are autistic traits measured equivalently in individuals with and without an Autism Spectrum Disorder?:An invariance analysis of the Autism Spectrum Quotient Short Form [PDF]

, 2014
It is common to administer measures of autistic traits to those without autism spectrum disorders (ASDs) with, for example, the aim of understanding autistic personality characteristics in non-autistic individuals. Little research has examined the extent
Aja L. Murray, C Allison, D Borsboom, EJ Austin, ES Kim, FF Chen, FF Chen, G Rajendran, JL Matson, JN Constantino, K Schermelleh-Engel, Karen McKenzie, LK Muthén, LT Hu, M Rhemtulla, Michael O’Donnell, ML Matson, RA Hoekstra, Renate Kuenssberg, RJ Vandenberg, RP McDonald, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Lundström, S Stark, S Wheelwright, SA Johnson, SJ Rogers, Tom Booth, TT Rivet, TW Frazier, TW Frazier, W Meredith, Y Kunihira, YJ Sung   +35 more
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach

Case Reports in Psychiatry, 2019
Introduction. Cognitive and behavioural problems associated with Neurofibromatosis type 1 (NF1) are common sources of distress and the reasons behind seeking help.
Ana Moscoso, Aurélie Julien, Antoine Tanet, Angèle Consoli, Martine Pagnard, France Trevisan, Isabelle Kemlin, Diana Rodriguez, David Cohen   +8 more
doaj   +1 more source

A 1.37-Mb 12p11.22–p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22–p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior ...
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Wayseen Wang   +6 more
doaj   +1 more source

Neurocognitive phenomics: examining the genetic basis of cognitive abilities [PDF]

, 2013
Cognitive deficits are core to the disability associated with many psychiatric disorders. Both variation in cognition and psychiatric risk show substantial heritability, with overlapping genetic variants contributing to both.
A. K. Malhotra, D. C. Glahn, Donohoe, Fowler, G. Donohoe, I. J. Deary, K. E. Burdick, Rose, Vernon   +8 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Sexuality and the Autism Spectrum: Implications for Individuals with the Broad Autism Phenotype

, 2017
Many people who are not diagnosed with Autism Spectrum Disorder (ASD) nevertheless have some symptoms of the disorder. These people are classified as having the Broad Autism Phenotype (BAP) and have some of the same difficulties as people with ASD.
Qualls, Lydia, Hartmann, Kathrin, Paulson, James F.   +2 more
openaire   +3 more sources

A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome

G3: Genes, Genomes, Genetics, 2019
AUTS2 was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder, intellectual disability, and epilepsy. Since that initial finding, AUTS2-linked mutations and variants have been associated with a very
P. Anne Weisner, Chih-Ying Chen, Younguk Sun, Jennifer Yoo, Wei-Chun Kao, Huimin Zhang, Emily T. Baltz, Joseph M. Troy, Lisa Stubbs   +8 more
doaj   +1 more source