Results 21 to 30 of about 1,509,615 (258)

Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome

Molecular Autism, 2020
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by the loss of functional ubiquitin protein ligase E3A (UBE3A). In neurons, UBE3A expression is tightly regulated by a mechanism of imprinting which suppresses the expression ...
Monica Sonzogni, Peipei Zhai, Edwin J. Mientjes, Geeske M. van Woerden, Ype Elgersma   +4 more
doaj   +1 more source

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

Journal of Neurodevelopmental Disorders, 2019
Background Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its ...
Alice Watkins, Stacey Bissell, Jo Moss, Chris Oliver, Jill Clayton-Smith, Lorraine Haye, Mary Heald, Alice Welham   +7 more
doaj   +1 more source

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison

Journal of Neurodevelopmental Disorders, 2018
Background Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion.
Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss, Chris Oliver   +4 more
doaj   +1 more source

The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review [PDF]

, 2022
BACKGROUND: Speech is the most common modality through which language is communicated, and delayed, disordered, or absent speech production is a hallmark of many neurodevelopmental and genetic disorders.
Tager-Flusberg, Helen, Chenausky, Karen Virginia, Chenausky, Karen V., Helen Tager-Flusberg, Karen V. Chenausky   +4 more
core   +1 more source

An experimental study of executive function and social impairment in Cornelia de Lange syndrome

Journal of Neurodevelopmental Disorders, 2017
Background Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented.
Lisa Nelson, Hayley Crawford, Donna Reid, Joanna Moss, Chris Oliver   +4 more
doaj   +1 more source

Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups

Frontiers in Behavioral Neuroscience, 2021
Angelman syndrome (AS) is caused by loss of information from the 15q11.2-13 region on the maternal chromosome with striking phenotypic difference from Prader–Willi syndrome in which information is lost from the same region on the paternal chromosome ...
Mary Heald, Dawn Adams, Emily Walls, Christopher Oliver   +3 more
doaj   +1 more source

Advances in Neurodevelopmental Disorders

, 2021
Neurodevelopmental disorders are a group of disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory.
Martin Becker, Raquel Vaz, S Mezinska, Peter B. Marschik, GJM Martens, Elena Cravedi1   +5 more
core   +1 more source

Emerging Verbal Functions in Early Infancy: Lessons from Observational and Computational Approaches on Typical Development and Neurodevelopmental Disorders

, 2022
Objectives. Research on typically developing (TD) children and those with neurodevelopmental disorders and genetic syndromes was targeted. Specifcally, studies on autism spectrum disorder, Down syndrome, Rett syndrome, fragile X syndrome, cerebral palsy,
Widmann, Claudius A. A., Kulvicius, Tomas, Poustka, Luise, Zhang, Dajie, Woergoetter, Florentin, Bölte, Sven, Lang, Sigrun, Boelte, Sven, Boterberg, Sofie, Nielsen-Saines, Karin, Einspieler, Christa, Nordahl-Hansen, Anders, Esposito, Gianluca, Wörgötter, Florentin, Roeyers, Herbert, Marschik, Peter B., Nordahl-Hansen, A, Nielsen-Saines, K, Boelte, S, Lang, S, Roeyers, H, Esposito, G, Widmann, CAA, Boterberg, S, Marschik, PB, Kulvicius, T   +25 more
core   +1 more source

New Research in Children with Neurodevelopmental Disorders [PDF]

, 2022
This book collects recent research in the field of care for neurodevelopmental disorders, emphasizing transdisciplinary work in clinical, educational and family contexts.

core   +2 more sources

Neurodevelopmental disorders

, 2013
The invention provides pharmaceutical compositions, medicaments and methods for use in preventing, ameliorating o or treating neurodevelopmental disorders.
Simon Edward Ward (16060376), Lewis Elliot Pennicott (16221365), Pennicott, Lewis Elliot, Ward, Simon, Ayana Alice Gibbs (16221362), Gibbs, Ayana Alice   +5 more
core   +3 more sources