Results 111 to 120 of about 594,426 (300)

Integrated genetic and methylomic analyses identify shared biology between autism and autistic traits

Molecular Autism, 2019
Previous studies have identified differences in DNA methylation in autistic individuals compared to neurotypical individuals. Yet, it is unclear if this extends to autistic traits—subclinical manifestation of autism features in the general population ...
Aicha Massrali, Helena Brunel, Eilis Hannon, Chloe Wong, iPSYCH-MINERvA Epigenetics Group, Simon Baron-Cohen, Varun Warrier   +6 more
doaj   +1 more source

Increasing the Ability of Children with Autism in Performing Oral Hygiene Through Photographs: a Single Subject Study in Indonesia [PDF]

, 2015
Autism is a developmental disorder in children that now affects 1 : 88 children in the world. As many as 50% of school-age children with autism face difficulty in independently performing oral hygiene.
Allenidekania, A. (Allenidekania), Kusumasari, A. P. (Alfani), Syahreni, E. (Elfi)   +2 more
core  

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

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Mapping brain growth and sex differences across prenatal to postnatal development

Scientific Reports
The perinatal period, encompassing both prenatal and early postnatal stages, is a highly dynamic and foundational phase of brain development. Despite its significance, limited work has tracked brain growth continuously across prenatal to postnatal ...
Yumnah T. Khan, Alex Tsompanidis, Marcin A. Radecki, Carrie Allison, Meng-Chuan Lai, Richard A. I. Bethlehem, Simon Baron-Cohen   +6 more
doaj   +1 more source

Does baseline language ability predict response to early intervention for toddlers with early signs of autism? Evidence from a caregiver-mediated program

Frontiers in Human Neuroscience
BackgroundCaregiver-mediated interventions (CMIs) for young autistic children are supported by mounting evidence of efficacy. Attempts to identify child-level factors that predict treatment response have yielded inconsistent findings, with very few such ...
Jessica Ann Brian, Jessica Ann Brian, Ian Roth, Lonnie Zwaigenbaum, Isabel Smith, Lori-Ann Rosalind Sacrey, Kate Bernardi, Stacey MacWilliam, Sara Daoud, Erin Dowds, Sanne Jilderda, Samara Osten, Anna Michelis, Abbie Solish   +13 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

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

THE TEACHING MEDIA USED BY THE TEACHERS FOR \ud VERBAL INTERMEDIATE AUTISM STUDENTS IN \ud “LABORATORIUM SEKOLAH AUTIS” STATE UNIVERSITY OF MALANG [PDF]

, 2007
Teaching media is very important for autism to compensate the lack of interest in other people \ud that sometimes appear to be an actual version contact with human being. Media used in teaching \ud learning process are varied.
NOVARIA, YULI
core  

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