Results 31 to 40 of about 43,167 (288)

Estimating the severity of intellectual disability in adults: A Mokken scaling analysis of the Learning Disability Screening Questionnaire. [PDF]

, 2013
A Mokken scaling analysis of the learning disability screening questionnaire (LDSQ) suggested that, with the exception of 1 item, the scale conforms to the properties of a Mokken scale.
Murray, Aja Louise, McKenzie, Karen
core   +1 more source

Screening with young offenders with an intellectual disability [PDF]

, 2012
The research suggests that young offenders with an intellectual disability (ID) may not always be identified within youth justice services. This pilot study assessed some aspects of the validity of a screening tool, the Child and Adolescent Intellectual ...
Curtis, Julie, Michie, Amanda, Murray, Aja Louise, McKenzie, Karen, Murray, George, Paxton, Donna   +5 more
core   +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

Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

Brain Sciences, 2021
Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal abnormalities are diagnostic features.
Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso, Josef Vuch, Rita Selvatici, Sheila Ulivi, Pio Adamo d’Adamo   +6 more
doaj   +1 more source

Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case report

Frontiers in Psychiatry
X-linked intellectual disability (XLID) is a well-recognized group of neurodevelopmental disorders, with pathogenic variants in X-chromosomal genes accounting for approximately 16% of intellectual disability cases in males. Clinical expression in females
Katerina Gaberova, Iliyana Hristova Pacheva, Ralitsa Yordanova, Tihomir Todorov, Albena Todorova, Liliyana Grozdanova, Margarita Panova, Mariyana Georgieva, Ivan Stefanov Ivanov   +8 more
doaj   +1 more source

A Novel Hemizygous Variant in the AFF2 Gene Causing Fragile XE (FRAXE) Syndrome: First Report from Pakistan

Pakistan Journal of Medical Research, 2021
Background: Fragile XE (FRAXE) is an X-linked recessive condition that affects 1 in 50,000 of new born males with intellectual disability (ID). It is characterized by mild Intellectual disability (ID), speech delay cognitive impairment, and in some ...
Iftikhar Ahmed, Muhammad Ilyas, Gaurav V Harlalka, Asif Mir   +3 more
doaj   +2 more sources

Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings

Neurology International
Background/Objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated
Michele Minerva, Lorenzo Perilli, Samanta Carbone, Margherita Maria Rossi, Federica Lotti, Luisa Lonoce, Maria Rosaria Curcio, Salvatore Grosso   +7 more
doaj   +1 more source

MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID and Fragile X syndrome

Frontiers in Cellular Neuroscience, 2013
Intellectual disability (ID) is one of the many features manifested in various genetic syndromes leading to deficits in cognitive function among affected individuals. ID is a feature affected by polygenes and multiple environmental factors. It leads to a
Wei-Hong eSiew, Wei-Hong eSiew, Kai-Leng eTan, Kai-Leng eTan, Maryam eAbbaspour Babaei, Maryam eAbbaspour Babaei, Pike-See eCheah, Pike-See eCheah, King-Hwa eLing, King-Hwa eLing   +9 more
doaj   +1 more source

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

Life Science Alliance, 2023
This study adds insights into FTSJ1 tRNA 2′-O-methylation–associated pathologies in humans and Drosophila by identification of novel FTSJ1 targets and neuron morphology defects.
Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Yuri Motorin, Clément Carré   +20 more
doaj   +1 more source

Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders

Cells, 2022
The Connector Enhancer of Kinase Suppressor of Ras-2 (CNKSR2), also known as CNK2 or MAGUIN, is a scaffolding molecule that contains functional protein binding domains: Sterile Alpha Motif (SAM) domain, Conserved Region in CNK (CRIC) domain, PSD-95/Dlg-A/
Hidenori Ito, Koh-ichi Nagata
doaj   +1 more source