Results 61 to 70 of about 1,349,658 (342)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Association of Borderline Intellectual Functioning and Adverse Childhood Experience with adult psychiatric morbidity. Findings from a British birth cohort

BMC Psychiatry, 2019
Background To examine whether Borderline Intellectual Functioning (BIF) and Adverse Childhood Experiences independently predict adult psychiatric morbidity.
Angela Hassiotis, Emma Brown, James Harris, David Helm, Kerim Munir, Luis Salvador-Carulla, Marco Bertelli, Amaria Baghdadli, Jannelien Wieland, Ramon Novell-Alsina, Jordi Cid, Laura Vergés, Rafael Martínez-Leal, Tuba Mutluer, Fuad Ismayilov, Eric Emerson   +15 more
doaj   +1 more source

Understanding EEG signals for subject-wise Definition of Armoni Activities [PDF]

arXiv, 2023
In a growing world of technology, psychological disorders became a challenge to be solved. The methods used for cognitive stimulation are very conventional and based on one-way communication, which only relies on the material or method used for training of an individual. It doesn't use any kind of feedback from the individual to analyze the progress of
arxiv  

Longitudinal Trajectories of Digital Cognitive Biomarkers for Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is one of the most common and debilitating symptoms of relapsing–remitting multiple sclerosis (RRMS). Digital cognitive biomarkers require less time and resources and are rapidly gaining popularity in clinical settings.
Yi Chao Foong, Daniel Merlo, Melissa Gresle, Chao Zhu, Katherine Buzzard, Jeannette Lechner‐Scott, Michael Barnett, Chenyu Wang, Bruce V. Taylor, Tomas Kalincik, Trevor Kilpatrick, David Darby, Pamela Dobay, Johan van Beek, Robert Hyde, Steve Simpson‐Yap, Helmut Butzkueven, Anneke van der Walt   +17 more
wiley   +1 more source

Spared cognitive and behavioral functions prior to epilepsy onset in a rat model of 2 subcortical band heteropia [PDF]

Brain Research, Elsevier, 2019, 1711, pp.146-155, 2019
13 Subcortical band heterotopia (SBH), also known as doublecortex syndrome, is a 14 malformation of cortical development resulting from mutations in the doublecortin gene 15 (DCX). It is characterized by a lack of migration of cortical neurons that accumulate in the 16 white matter forming a heterotopic band.
arxiv   +1 more source

Home‐Based Tele‐tDCS in Amyotrophic Lateral Sclerosis: Feasibility, Safety, and Preliminary Efficacy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with limited treatment options. Transcranial direct current stimulation (tDCS) shows promise as a neuromodulatory intervention in various neurological disorders, but its application in ALS, particularly in a remote, home‐based format, remains underexplored.
Sangeetha Madhavan, Shravni Deshmukh, Mark Cummings, Aditi Doshi, Kourosh Rezania, Sally Freels, Gina Sawa   +6 more
wiley   +1 more source

Sleep disorders in Intellectual Disability; a brief narrative review

Advances in Clinical Neuroscience & Rehabilitation, 2023
Adults with intellectual disability are more likely to experience sleep disorders and disordered sleep, which not only adversely affects their mental and physical health, but also the health and wellbeing of their carers.
Vera Barbosa, Samaneh Moghaddacy, David O’Regan   +2 more
doaj   +1 more source

Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Spinal cord lesions and atrophy in the cervical region are common in adult multiple sclerosis (MS) and correlate with disability. Whether similar abnormalities occur in pediatric MS patients is largely unknown. Clinical and MRI evaluations were performed in 38 pediatric MS patients and 13 healthy controls (HC).
Monica Margoni, Paola Valsasina, Paolo Preziosa, Martina Rubin, Mor Gueye, Lucia Moiola, Maria Assunta Rocca, Massimo Filippi   +7 more
wiley   +1 more source

Children with PIMD/SMID expressive behaviors: Development and testing of ChildSIDE app, the first step for independent communication and mobility [PDF]

arXiv, 2020
Children with profound intellectual and multiple disabilities or severe motor and intellectual disabilities only communicate through movements, vocalizations, body postures, muscle tensions, or facial expressions on a pre- or protosymbolic level. Yet, to the best of our knowledge, hardly any system has been developed to interpret their expressive ...
arxiv  

X‐linked intellectual disability update 2017

American Journal of Medical Genetics. Part A, 2018
The X‐chromosome comprises only about 5% of the human genome but accounts for about 15% of the genes currently known to be associated with intellectual disability.
G. Neri, C. Schwartz, H. Lubs, R. Stevenson   +3 more
semanticscholar   +1 more source