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Vocabulary comprehension in adults with fragile X syndrome (FXS)
Springer Science and Business Media LLC - Tập 11 - Trang 1-9 - 2019
Anne Hoffmann, Sue Ellen Krause, Joanne Wuu, Sue Leurgans, Stephen J. Guter, Sandra S. Block, Jeff Salt, Edwin Cook, Dominick M. Maino, Elizabeth Berry-Kravis
Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in in... hiện toàn bộ
Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation
Springer Science and Business Media LLC - Tập 14 Số 1 - 2022
Jessica Klusek, Amanda J. Fairchild, Carly Moser, Marsha R. Mailick, Angela John Thurman, Leonard Abbeduto
Abstract Background Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early d... hiện toàn bộ
Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats
Springer Science and Business Media LLC - Tập 8 - Trang 1-12 - 2016
Yang Wu, Weiwei Zhong, Ningren Cui, Christopher M. Johnson, Hao Xing, Shuang Zhang, Chun Jiang
Rett Syndrome (RTT) is a neurodevelopmental disease caused by the disruption of the MECP2 gene. Several mouse models of RTT have been developed with Mecp2 disruptions. Although the mouse models are widely used in RTT research, results obtained need to be validated in other species. Therefore, we performed these studies to characterize phenotypes of a novel Mecp2 −/Y rat model and compared them wit... hiện toàn bộ
Phân tích kiểu hình sâu của các đặc điểm tâm thần trong các nhóm xác định gen: ứng dụng cho hội chứng XYY Dịch bởi AI
Springer Science and Business Media LLC - Tập 15 - Trang 1-16 - 2023
Armin Raznahan, Srishti Rau, Luke Schaffer, Siyuan Liu, Ari M. Fish, Catherine Mankiw, Anastasia Xenophontos, Liv S. Clasen, Lisa Joseph, Audrey Thurm, Jonathan D. Blumenthal, Dani S. Bassett, Erin N. Torres
Các rối loạn về số lượng gen lặp lại mang lại nguy cơ đáng kể cho tâm thần học. Tuy nhiên, việc hiểu rõ nguy cơ này bị hạn chế bởi các biểu hiện phức tạp mà thách thức các hệ thống chẩn đoán cổ điển. Trong nghiên cứu này, chúng tôi trình bày một loạt phương pháp phân tích tổng quát để giải mã sự phức tạp lâm sàng này, được minh họa thông qua ứng dụng cho hội chứng XYY. Chúng tôi thu thập các số li... hiện toàn bộ
#hội chứng XYY #tâm thần học #rối loạn di truyền #mô hình mạng #phân tích kiểu hình sâu
The feasibility of using actigraphy to characterize sleep in Rett syndrome
Springer Science and Business Media LLC - Tập 10 Số 1 - 2018
Alyssa M. Merbler, Breanne J. Byiers, John Garcia, Tim Feyma, Frank J. Symons
An experimental study of executive function and social impairment in Cornelia de Lange syndrome
Springer Science and Business Media LLC - Tập 9 - Trang 1-15 - 2017
Lisa Nelson, Hayley Crawford, Donna Reid, Joanna Moss, Chris Oliver
Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they a... hiện toàn bộ
Prospective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder
Springer Science and Business Media LLC - - 2017
Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson, Christopher Oliver
The limited behavioural phenotype literature on Phelan–McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behavi... hiện toàn bộ
Effects of early-life exposure to THIP on phenotype development in a mouse model of Rett syndrome
Springer Science and Business Media LLC - Tập 8 - Trang 1-13 - 2016
Weiwei Zhong, Christopher Mychal Johnson, Yang Wu, Ningren Cui, Hao Xing, Shuang Zhang, Chun Jiang
Rett syndrome (RTT) is a neurodevelopmental disorder caused mostly by disruptions in the MECP2 gene. MECP2-null mice show imbalances in neuronal excitability and synaptic communications. Several previous studies indicate that augmenting synaptic GABA receptors (GABAARs) can alleviate RTT-like symptoms in mice. In addition to the synaptic GABAARs, there is a group of GABAARs found outside the synap... hiện toàn bộ
Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study
Springer Science and Business Media LLC - Tập 10 Số 1 - Trang 1-10 - 2018
Silva, Gilberto, Duarte, Isabel Catarina, Bernardino, Inês, Marques, Tânia, Violante, Inês R., Castelo-Branco, Miguel
Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is involved in the control of frequency and stability of motor rhythms. Therefore, we aimed to explore the link between behavioural motor control, brain rhythms and brain activity, as assessed b... hiện toàn bộ
RCAN1 knockout and overexpression recapitulate an ensemble of rest-activity and circadian disruptions characteristic of Down syndrome, Alzheimer’s disease, and normative aging
Springer Science and Business Media LLC - Tập 14 Số 1 - 2022
Helen Wong, Jordan M. Buck, Curtis Borski, Jessica Pafford, Bailey N. Keller, Ryan Milstead, Jessica L. Hanson, Jerry A. Stitzel, Charles A. Hoeffer
Abstract Background Regulator of calcineurin 1 (RCAN1) is overexpressed in Down syndrome (DS), but RCAN1 levels are also increased in Alzheimer’s disease (AD) and normal aging. AD is highly comorbid among individuals with DS and is characterized in part by progressive neurodegeneration that resembles accelerated aging. Importantly, abnormal RCAN1 levels have been demonstrated to promote memory def... hiện toàn bộ
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