Results 1 to 10 of about 140,629 (120)

Heart rate monitoring to detect acute pain in non-verbal patients: a study protocol for a randomized controlled clinical trial

BMC Psychiatry, 2023
Background Autism entails reduced communicative abilities. Approximately 30% of individuals with autism have intellectual disability (ID). Some people with autism and ID are virtually non-communicative and unable to notify their caregivers when they are ...
Emilie S. M. Kildal, Daniel S. Quintana, Attila Szabo, Christian Tronstad, Ole Andreassen, Terje Nærland, Bjørnar Hassel   +6 more
doaj   +1 more source

Tophaceous gout of the nose in a male FMR1 premutation carrier

Clinical Case Reports, 2022
Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement including a rare ...
Si Jie Tang, Shanthi Giri, Nima Pahlavan, Sophia H. Han, Ellery R. Santos, Glenda Espinal, Ramkumar Aishworiya, Andrea Schneider, David Hessl, Susan M. Rivera, Randi J. Hagerman   +10 more
doaj   +1 more source

Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance

Journal of Neurodevelopmental Disorders, 2017
Background The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver   +4 more
doaj   +1 more source

Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis

Journal of Neurodevelopmental Disorders, 2019
Background Depressive symptomology and low affect are comparatively common in individuals with genetic disorders such as Cornelia de Lange syndrome. However, lifespan trajectories and associated person characteristics have not been examined.
Laura Groves, Joanna Moss, Hayley Crawford, Lisa Nelson, Chris Stinton, Gursharan Singla, Chris Oliver   +6 more
doaj   +1 more source

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

A conserved role for the ALS-linked splicing factor SFPQ in repression of pathogenic cryptic last exons

Nature Communications, 2021
SFPQ is a splicing factor and its mutations are associated to amyotrophic lateral sclerosis (ALS) patients. Here, the authors show that SFPQ represses the use of pathogenic cryptic last exons in zebrafish, mouse and human cells.
Patricia M. Gordon, Fursham Hamid, Eugene V. Makeyev, Corinne Houart   +3 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

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