Results 51 to 60 of about 92,072 (315)

The use of IQ and descriptions of people with intellectual disabilities in the scientific literature [PDF]

, 2011
A necessary though not sufficient part of most internationally recognised definitions of Intellectual Disability (ID) is having a measured intellectual quotient (IQ) less than a critical figure, usually 70, for example the American Association on ...
Whitaker, Simon, Laird, C.
core  

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Mastery motivation in children with intellectual disability : Is there evidence for a Down syndrome behavioural phenotype?

, 2015
The main purpose of the current study was to provide empirical evidence to support or refute assumptions of phenotypic deficits in motivation for children with Down syndrome. Children with moderate intellectual disability associated with etiologies other
Browning, Melissa, Cuskelly, Monica, Gilmore, Linda   +2 more
core   +1 more source

Living with stigma and the self-perceptions of people with mild intellectual disabilities [PDF]

, 2010
There is now overwhelming evidence concerning the awareness people with moderate to mild intellectual disabilities' have about the stigma they experience in their lives.
Kirsten Stalker, Cairney, A., Wilson, A., Alastair Wilson, Jahoda, A., Wilson, Alastair, Stalker, K., Andrew Jahoda, Anja Cairney   +8 more
core   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Classification and intellectual disabilities: an investigation of the factors that predict the performance of athletes with intellectual disability [PDF]

, 2018
It has been shown that having intellectual disabilities impacts to reduce performance compared to athletes without this impairment. However, it has also been demonstrated that there is a not a direct link between intelligence and athletic performance. To
Jan Burns, Gilderthorp, R., Rosanna Gilderthorp, Jones, F., Fergal Jones, Burns, J.   +5 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line

Stem Cell Research, 2021
Mental retardation autosomal dominant 7 (MRD7), or DYRK1A Related Intellectual Disability Syndrome (OMIM 614104) is a developmental syndrome with microcephaly, intellectual disability, language delay and epileptic seizures.
Ling Ma, Ziyan Wu, Qingyuan Tang, Xiaoli Ji, Yuting Mei, Ting Peng, Qiong Xu, Wenhao Zhou, Man Xiong   +8 more
doaj   +1 more source

Walk well : a randomised controlled trial of a walking intervention for adults with intellectual disabilities: study protocol [PDF]

, 2013
Walking interventions have been shown to have a positive impact on physical activity (PA) levels, health and wellbeing for adult and older adult populations.
Alex McConnachie, Mitchell, Fiona, Kirsten Stalker, Stalker, Kirsten, Melville, Craig, Fiona Mitchell, Craig Melville, Heather Murray, McConnachie, Alex, Murray, Heather, Walker, Andrew, Mutrie, Nanette, Lynsay Matthews, Matthews, Lynsay, Nanette Mutrie, Andrew Walker   +15 more
core   +1 more source