Results 201 to 210 of about 128,632 (290)

Linking Brain Morphometry to Psychometric Measures and Energy‐Metabolic Biomarkers in Adults With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is associated with differences in neurodevelopment and altered metabolism, yet the interplay between brain morphometry, mitochondrial and energy metabolism biomarkers, and autistic traits in adults remains poorly understood. This study investigates the link between brain structure, psychometric measures, and both
Eleonora Esposto, Kathrin Nickel, Dominique Endres, Kimon Runge, Katharina Domschke, Thomas Lange, Marco Reisert, Anke Schumann, Cinzia Niolu, Ludger Tebartz van Elst, Simon Maier   +10 more
wiley   +1 more source

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum. [PDF]

Hum Mol Genet
Lee E, Sim S, Choi HJ, Liang EY, Le C, Bina R, Cohen R, George E, Kim SY, Bhat G, Falsey E, Sidlow R, Clinard K, Ben-Shachar S, England E, Menendez B, Herman I, Nielsen S, Punetha J, Bhola P, Hamm JA, Keeney MA, Sitzman N, Berger S, Mehta L, Conn AJ, Downie L, Ashfaq M, Northrup H, Bruel AL, Odent S, Szot JO, Martinez NN, Park S, Refkin J, Good JM, Maurer F, Le Caignec C, Coman DJ, Anderson E, Richards LJ, Dean RJ, Yang C, Choi C, Hwang BJ, Lee JS, Dobyns WB, Choi M, Sherr EH, Chae JH, Kee Y, Argilli E.   +51 more
europepmc   +1 more source

Motor Disorders in Autism: From Comorbidity to Core Criterion

Autism Research, EarlyView.
ABSTRACT While repetitive movements are recognized as a diagnostic hallmark of Autism Spectrum Disorder (ASD) in frameworks such as the DSM and ICD, other motor disturbances, including gait atypicalities and postural control difficulties, have historically been overlooked or framed as secondary comorbidities.
Mohamed Jaber
wiley   +1 more source

The Unique Roles of Executive Function in Co‐Occurring Psychopathologies in Autism

Autism Research, EarlyView.
ABSTRACT Children with autism spectrum disorder (ASD) often experience co‐occurring psychiatric conditions, such as anxiety and attention‐deficit/hyperactivity disorder (ADHD), which significantly impair daily functioning. However, the underlying mechanisms linking these conditions to core ASD features remain poorly understood.
Shing‐Him Ng, Jet Leung, Keith Chun Lok Lee, Angela Man Wai Lam, Isaac Ho Wai Wong, Sze‐Mai Ng, Maciej Gabrysiak, Petrina Yau Pok Lau, Sandra Sau Man Chan, Tyler M. Moore, Kosha Ruparel, Raquel E. Gur, Ruben C. Gur, Oscar Wing Ho Wong   +13 more
wiley   +1 more source

A Rare CTBP1-Related Neurodevelopmental Disorder Is Associated with Impaired Mitochondrial Bioenergetics: A Functional Case Report. [PDF]

Int J Mol Sci
Ivanov Z, Gevezova M, Pacheva I, Ketev K, Chochkova-Bukova L, Sarafian V, Ivanov I.   +6 more
europepmc   +1 more source

Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model

Autism Research, EarlyView.
ABSTRACT Estimating the prevalence of genetic disorders is complicated by many factors including sampling bias and differing methods of estimation. However, establishing the true prevalence of these disorders is critical for understanding disease burden, pharmacoeconomic modeling, and resource allocation for testing and care.
Tess Levy, David Lapidus, Kate Friedman, Paige Siper, Larry Glass, Liza Squires, Mary Hames, Joseph D. Buxbaum, Genetic Testing Consortium, Brooklynn Gasser, Meghan Towne, Behrang Mahjani, Seulgi Jung, Stuart Schwartz, Kai Lee Yap, Mindy Li, Avinash V. Dharmadhikari, Gordana Raca, Dolores B. Estrine, Stefanie Biller, Amanda Singleton, Sarah Poll, Alexander Kolevzon   +22 more
wiley   +1 more source

Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes. [PDF]

Mol Genet Genomic Med
Sedláčková L, Brožková DŠ, Havlovicová M, Laššuthová P.   +3 more
europepmc   +1 more source

Irony Comprehension in Monolingual and Bilingual Children With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT This study examined verbal irony comprehension in monolingual and bilingual autistic children, focusing on irony recognition, intention understanding, cue use while deciphering ironic meanings, and error patterns. A low‐verbal, multimodal task was used to minimize linguistic and metalinguistic demands.
Maria Andreou, Stella Lampri, Eleni Peristeri   +2 more
wiley   +1 more source

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder. [PDF]

Nat Genet
Greene D, Mendez R, Lees J, Barbosa M, Bruselles A, Chiriatti L, Ferraro F, Mancini C, Schot R, Sleutels F, Bertini E, Bonner DE, Bouman A, Brooks AS, Cassini TA, Ezell KM, Gomez-Ospina N, Kleefstra T, O'Donoghue M, Rives L, Shashi V, Spillmann RC, Wafik M, Undiagnosed Diseases Network, Freson K, Barakat TS, Tartaglia M, Bernstein JA, Mumford AD, Wheeler MT, Turro E.   +30 more
europepmc   +1 more source