Results 51 to 60 of about 691,001 (359)

Regional gray matter volumetric changes in autism associated with social and repetitive behavior symptoms. [PDF]

, 2006
BackgroundAlthough differences in brain anatomy in autism have been difficult to replicate using manual tracing methods, automated whole brain analyses have begun to find consistent differences in regions of the brain associated with the social cognitive
Peterson, Eric, Reite, Martin L, Rogers, Sally J, Rojas, Donald C, Tregellas, Jason R, Winterrowd, Erin   +5 more
core   +2 more sources

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno, Giovanni Ermanis, Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, Enrico Belgrado, Elena Betto, Gian Luigi Gigli, David De Monte, Marco Domenico Scanni, Marco Mucchiut, Giuseppe Damante, Mariarosaria Valente, Francesco Janes   +13 more
wiley   +1 more source

A novel method for assessing the development of speech motor function in toddlers with autism spectrum disorders

Frontiers in Integrative Neuroscience, 2013
There is increasing evidence to show that indicators other than socio-cognitive abilities might predict communicative function in Autism Spectrum Disorders (ASD).
Katherine eSullivan, Megha eSharda, Jessica eGreenson, Geraldine eDawson, Nandini C Singh   +4 more
doaj   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Prospective and detailed behavioral phenotyping in DDX3X syndrome

Molecular Autism, 2021
Background DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum ...
Lara Tang, Tess Levy, Sylvia Guillory, Danielle Halpern, Jessica Zweifach, Ivy Giserman-Kiss, Jennifer H. Foss-Feig, Yitzchak Frank, Reymundo Lozano, Puneet Belani, Christina Layton, Bonnie Lerman, Emanuel Frowner, Michael S. Breen, Silvia De Rubeis, Ana Kostic, Alexander Kolevzon, Joseph D. Buxbaum, Paige M. Siper, Dorothy E. Grice   +19 more
doaj   +1 more source

Health‐Related Quality of Life in Rare Forms of Childhood‐Onset Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms.
Henri J. D. Schmidt, Nicole Battaglia, Joshua Rong, Amy Tam, Siofra Carty, Vicente Quiroz, Kathryn Yang, Zainab Zaman, Luca Schierbaum, Katerina Bernardi, Julian E. Alecu, Darius Ebrahimi‐Fakhari   +11 more
wiley   +1 more source

MED13L-related disorder characterized by severe motor speech impairment

Journal of Neurodevelopmental Disorders
Background MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses and ...
Marissa W. Mitchel, Stefanie Turner, Lauren K. Walsh, Rebecca I. Torene, Scott M. Myers, Cora M. Taylor   +5 more
doaj   +1 more source

Intellectual Development in Autism Spectrum Disorders: New Insights from Longitudinal Studies

Frontiers in Human Neuroscience, 2013
The presence/absence of Intellectual Disability (ID) is considered to be the most critical factor affecting outcomes in individuals with Autism Spectrum Disorders (ASD).
Giacomo eVivanti, Josephine eBarbaro, Kristelle eHudry, Cheryl eDissanayake, Margot ePrior   +4 more
doaj   +1 more source

Autism-associated SNPs in the clock genes _npas2_, _per1_ and the homeobox gene _en2_ alter DNA sequences that show characteristics of microRNA genes. [PDF]

, 2008
Intronic single nucleotide polymorphisms (SNPs) in the clock genes _npas2_ and _per1_ and the homeobox gene _en2_ are reported to be associated with autism.
Brad Nicholas, Dawn C. Wimpory, Michael J. Owen, Thomas Caspari   +3 more
core   +1 more source

Autistic trait interactions underlie sex-dependent facial recognition abilities in the normal population [PDF]

, 2013
Autistic face processing difficulties are either uniquely social or due to a piecemeal cognitive "style". Co-morbidity of social deficits and piecemeal cognition in autism makes teasing apart these accounts difficult.
Barsky, AR, Belmonte, MK, Ganzel, BL, Maendel, JW, Valla, JM   +4 more
core   +2 more sources