Results 31 to 40 of about 7,634 (165)

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial

Trials, 2020
Background Ketogenic and low-glycemic-index diets are effective in treating drug-resistant seizures in children with Angelman syndrome. Cognition, mobility, sleep, and gastrointestinal health are intrinsically linked to seizure activity and overall ...
Donna L. Herber, Edwin J. Weeber, Dominic P. D’Agostino, Jessica Duis   +3 more
doaj   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired communication, abnormal social interactions, and restricted, repetitive behaviors. Pathogenic mutations in UBE3B result in neurodevelopmental disease, including intellectual disability, lack of speech, and ASD.
Shayal Vashisth, Aleya Shedd, Ariel Aiken, Solmi Cheon, Josh Bandopadhay, Kiran Kaur, Kimberly M. Huber, Maria H. Chahrour   +7 more
wiley   +1 more source

Differential diagnosis of Rett and Angelman syndromes: final diagnosis of a case using genetic analysis

Psychiatry and Clinical Psychopharmacology, 2021
The purpose of this article is to review the diagnostic procedures and genetic analysis in making differential diagnosis of a case having similar symptoms of Rett and Angelman syndromes.
Tümer Türkbay, Davut Gül, Teoman Söhmen   +2 more
doaj  

Craniofacial disorders in the course of Angelman syndrome - a review of the literature

Journal of Education, Health and Sport, 2020
Angelman syndrome is a neurogenetic disorder with an estimated prevalence of 1 in 10.000 to 1 in 40.000 cases. Clinical presentation is based on characteristic neurobehavioral and emotional disorders, a function of the nervous and pulmonary system as ...
Katarzyna Brukiewicz, Oskar Komisarek
doaj   +1 more source

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

Epilepsia, EarlyView.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk, Mary Anne Meskis, Galia Wilson, Bobby Jacob, Christoph Helmstaedter, Jane von Gaudecker, Veronica Hood, Ceri Hughes, Michael Scott Perry   +8 more
wiley   +1 more source

Serum NfL, GFAP, and p‐tau217 in adults with drug‐resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

Epilepsia, EarlyView.
Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie, Inge M. W. Verberk, Jans S. van Ool, Anneke J. J. Rampen, Rebecca Z. Rousset, Nicole I. Wolf, Dederieke A. M. Maes‐Festen, Clara D. M. van Karnebeek, Charlotte E. Teunissen, Erik Boot, Agnies M. van Eeghen   +10 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source