Results 71 to 80 of about 475,058 (385)

Examination of parental and special education teachers' attitudes towards sports activities of students with intellectual disability [PDF]

, 2018
The purpose of this study was to examine the attitudes of parents of students with intellectual disability and special education teachers working in special education schools to the sports activities of students with intellectual disability (ID).The ...
Aslan, Şehmus
core   +1 more source

Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients

, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, Caterina Lo Rizzo, Sara Resciniti, Mirella Bruttini, Lista Mirjam, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani   +11 more
wiley   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

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

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

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

Occurrence, Risk Factors, and Prognosis of Acute Cerebral Microinfarcts in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cerebral small vessel disease in adults. This study investigates the occurrence, risk factors, and prognosis of acute cerebral microinfarcts (ACMIs) in patients with CADASIL.
Xuejiao Men, Hui Li, Zhuoxin Guo, Bin Qin, Hengfang Ruan, Ruipeng Cai, Bingjun Zhang, Aimin Wu, Lei Wei, Yongqiang Dai, Haiyan Li, Zhengqi Lu   +11 more
wiley   +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  

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

The effectiveness of a weight maintenance intervention for adults with intellectual disabilities and obesity: a single stranded study [PDF]

, 2015
Background: The evidence base for weight management programmes incorporating a weight loss and a weight maintenance phase for adults with intellectual disabilities (ID) is limited.
Hankey, Catherine, Melville, Craig, Spanos, Dimitrios   +2 more
core   +1 more source