Results 41 to 50 of about 1,118,223 (234)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Assortative Mating and Increase in Prevalence and Severity of Autistic Spectrum Disorder in Children—A Systematic Review

Children
Background/objectives: The prevalence of autistic spectrum disorder has been increasing rapidly in the world population and the cause of this increase is unknown.
Michael Eisenhut, Anjana Jeevan
doaj   +1 more source

Factors Associated With the Rising Trend in Self‐Reported Cognitive Disability Among U.S. Adults Aged 18–39 From 2013–2024

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon, Ka‐Ho Wong, Mirriam Mananah, Christopher D. Anderson, Ada Fenick, Amy Arnsten, Arman Fesharaki‐Zadeh, James C. McPartland, Mary L. Adams, Kevin N. Sheth   +9 more
wiley   +1 more source

DETECTION OF AUTISITC LIKE TRAITS IN PATIENTS WITH SCHIZOPHRENIA AND BIPOLAR DISORDERS [PDF]

Zagazig University Medical Journal, 2019
Background: Autism spectrum disorder often co-occurs with other psychiatric disorders. Although a high prevalence of autistic-like traits/symptoms has been identified in the pediatric psychiatric population of normal intelligence, there are no reports ...
Abdullah Ibrahim, Amira Yossef, Yasser Raya, Khadija Dawoud   +3 more
doaj   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Intervention for autistic spectrum disorders [PDF]

NeuroRX, 2006
A comprehensive approach to the assessment of any child with autism must be matched specifically to each individual child and family. This premise holds for medical therapies and special education services as well as psychopharmacologic interventions.
Pauline A, Filipek, Robin, Steinberg-Epstein, Teri M, Book   +2 more
openaire   +2 more sources

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

‘Not just right experience’ (NJRE) in obsessive-compulsive disorder: Is NJRE a manifestation of autistic traits? [PDF]

, 2014
Aims: Harm avoidance (HA) and ‘not just right experience’ (NJRE) have been proposed to be two core motivational processes underlying obsessive-compulsive disorder (OCD).
Hellriegel, J
core  

Overlapping and distinct intrinsic connectivity of hippocampal and triple networks in autistic individuals with and without a comorbid condition of ADHD

Frontiers in Psychiatry
Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) are conventionally thought to be very distinct neurodevelopmental disorders, but many autistic individuals also exhibit symptoms of ADHD. Extensive research has focused on
Lang Chen, Lang Chen, Anna Riggs, Nickolas Luckenbach   +3 more
doaj   +1 more source