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Neurodevelopmental disorders [PDF]

WIREs Cognitive Science, 2016
Recent technological advances allow us to measure how the infant brain functions in ways that were not possible just a decade ago. Although methodological advances are exciting, we must also consider how theories guide research: what we look for and how we explain what we find.
D'Souza, Hana, Karmiloff-Smith, Annette
core   +6 more sources

Neurodevelopmental disorders [PDF]

The Lancet Psychiatry, 2017
Neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder, although most commonly considered in childhood, can be lifelong conditions. In this Personal View that is shaped by clinical experience and research, we adopt a conceptual approach.
Thapar, Anita, Cooper, Miriam, Rutter, Michael   +2 more
  +10 more sources

Neurodevelopmental Disorders [PDF]

, 2020
How do we know when a child is developing normally? In terms of physical development, we have numerous indicators, ranging from height and weight to dexterity and strength. But what about the development of intellect, emotional stability, or the ability to create and maintain social relationships? How do we know what is normal in the first place?
McClure, Iain, Smith, Matthew
  +6 more sources

Genetics and Phenotypes of Late-Onset Neurodegeneration in Neurodevelopmental Disorders. [PDF]

Cureus
Pitton Rissardo J, Rashidi F, Rashidi M, Bahar M, Kheirandishdoolabi K, Fornari Caprara AL, Khademhamzeh F, Ranjbar S, Prathiraja O, Jayasinghe M.   +9 more
europepmc   +3 more sources

SETD1B-associated neurodevelopmental disorder [PDF]

Journal of Medical Genetics, 2020
Background Dysfunction of histone methyltransferases and chromatin modifiers has been implicated in complex neurodevelopmental syndromes and cancers. SETD1B encodes a lysine-specific methyltransferase that assists in transcriptional activation of genes by depositing H3K4 methyl marks.
Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson   +13 more
openaire   +3 more sources

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

Allergic fetal priming leads to developmental, behavioral and neurobiological changes in mice. [PDF]

, 2015
The state of the mother's immune system during pregnancy has an important role in fetal development and disruptions in the balance of this system are associated with a range of neurologic, neuropsychiatric and neurodevelopmental disorders ...
Ashwood, P, Careaga, M, Chang, C, Onore, CE, Schwartzer, JJ   +4 more
core   +2 more sources

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