Results 81 to 90 of about 24,165 (274)

The impact of early synchronized gestures by parents with more pronounced broader autism phenotype traits on language skills of children with autism spectrum disorder

Xin yixue
Objective To investigate the impact of broad autism phenotype (BAP) characteristics in early parent-child interactions on gesture use and the language abilities of children with Autism Spectrum Disorder (ASD) within families affected by ASD. Methods From
Shaoli LÜ, Yixiang XIE, Linru LIU, Qianying YE, Hongzhu DENG   +4 more
doaj   +1 more source

Decreased grey matter volumes in unaffected mothers of individuals with autism spectrum disorder reflect the broader autism endophenotype

Scientific Reports, 2021
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with an early onset and a strong genetic origin. Unaffected relatives may present similar but subthreshold characteristics of ASD.
Kyung-min An, Takashi Ikeda, Tetsu Hirosawa, Ken Yaoi, Yuko Yoshimura, Chiaki Hasegawa, Sanae Tanaka, Daisuke N. Saito, Mitsuru Kikuchi   +8 more
doaj   +1 more source

Neurobiological abnormalities in the first few years of life in individuals later diagnosed with Autistic Spectrum Disorder : A review of recent data [PDF]

, 2014
Peer reviewedPublisher ...
Allely, C.S., Gillberg , C, Wilson, P.
core   +6 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

The genetics of colored sequence synesthesia: Evidence of linkage to chromosome 16q and genetic heterogeneity for the condition [PDF]

, 2009
Synesthesia is a perceptual condition in which normal sensory stimulation can trigger anomalous sensory experiences. For example, synesthetes may experience colors in response to sounds, tastes in response to words, or smells in response to touch.
Anand K. Sarma, David M. Eagleman, Dianna M. Milewicz, Kwanghyuk Lee, Molly Bray, Nili Avidan, Rejnal Tushe, Stephanie S. Nelson, Suzanne M. Leal   +8 more
core   +2 more sources

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Subthreshold Autism Spectrum in a Patient with Anorexia Nervosa and Behçet’s Syndrome

Case Reports in Psychiatry, 2020
Recently, increasing research stressed the presence of subthreshold autistic traits in patients with other psychiatric conditions. In this framework, a significant relationship between anorexia nervosa (AN) and the autism spectrum has been frequently ...
L. Dell’Osso, B. Carpita, I. M. Cremone, F. Mucci, A. Salerni, D. Marazziti, C. Carmassi, C. Gesi   +7 more
doaj   +1 more source

Identification of subgroups of children in the Australian Autism Biobank using latent class analysis

Child and Adolescent Psychiatry and Mental Health, 2023
Background The identification of reproducible subtypes within autistic populations is a priority research area in the context of neurodevelopment, to pave the way for identification of biomarkers and targeted treatment recommendations.
Alicia Montgomery, Anne Masi, Andrew Whitehouse, Jeremy Veenstra-VanderWeele, Lauren Shuffrey, Mark D. Shen, Lisa Karlov, Mirko Uljarevic, Gail Alvares, Sue Woolfenden, Natalie Silove, Valsamma Eapen   +11 more
doaj   +1 more source

The Autism-Spectrum Quotient—Italian Version: A Cross-Cultural Confirmation of the Broader Autism Phenotype [PDF]

Journal of Autism and Developmental Disorders, 2011
The Autism Spectrum Quotient (AQ) has been used to define the 'broader' (BAP), 'medium' (MAP) and 'narrow' autism phenotypes (NAP). We used a new Italian version of the AQ to test if difference on AQ scores and the distribution of BAP, MAP and NAP in autism parents (n = 245) versus control parents (n = 300) were replicated in a Sicilian sample. Parents
Ruta L., Mazzone D., Mazzone L., Wheelwright S., Baron-Cohen S.   +4 more
openaire   +4 more sources

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source