Results 51 to 60 of about 2,601,816 (350)

Assessing the accuracy of the WISC-IV seven-subtest short form and the child and adolescent intellectual disability screening questionnaire in identifying intellectual disability in children [PDF]

, 2014
Little research has been conducted into the accuracy of abbreviated assessments in identifying children and young people with an intellectual disability (ID).
Murray, Kara, Murray, Aja Louise, McKenzie, Karen, Murray, George   +3 more
core   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Mania in Cornelia de Lange Syndrome: Diagnostic Challenges and the Role of Multidisciplinary Care – A Case Report [PDF]

Eurasian Journal of Family Medicine
Cornelia de Lange syndrome is a rare cohesinopathy characterized by multisystem involvement, intellectual disability, and a distinct behavioural phenotype. Psychiatric comorbidities remain underrecognised.
Alvin J Joseph, John Abraham
doaj   +1 more source

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism [PDF]

, 2014
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features.
Aldridge, Roland, Green, Andrew J, Lampe, A., McKee, Shane A., Kingston, Helen, Kayserili, H., Bitner-Glindzicz, M, Chan, Cheng Yee, Kayserili, Hülya, Cooper, Nicola S, Mansour, S, Chandler, K, Ross, Alison, Bitner-Glindzicz, Maria, Ansari, M., Aldridge, R., Bennett, CP, Donnelly, D. E., Davidson, R, Chan, C. Y., Girisha, KM, Poke, G., Cook, J., Lampe, Anne K., Pilz, Daniela T, Chan, C., Poke, Gemma, Park, Soo-Mi, Ferry, Q., Lam, Wayne K, Cook, JA, Splitt, M., Johnson, Diana S., Wee, Jamie S., Deshpande, C, Falkenberg Smeland, Marie, Chan, CY, Avci, Şahin, Hurst, Jane A, Lam, W. K., Deshpande, C., Meynert, A., Bennett, C. P., Green, A. J., Donnai, D., Bengani, Hemant, Pilz, D. T., McEntagart, M, Thompson, Elizabeth M., Mansour, Sahar, Deshpande, Charu, McConnell, Vivienne, Davidson, Rosemarie, FitzPatrick, D. R., McEntagart, Meriel, Cooper, Nicola S., Thompson, E. M., Josifova, D., Holder, S. E., Green, Andrew J., Taylor, M. S., Homfray, Tessa, Kingston, H, FitzPatrick, DR, Tatton-Brown, Katrina, Hurst, J. A., Taylor, MS, Barnicoat, Angela, Magee, A. C., Parker, M. J., Wilson, L, Clayton-Smith, Jill, Flinter, F., Tolmie, J., Wee, J. S., Donnelly, Deirdre E., Lampe, Anne K, Fisher, Richard B, Green, AJ, Redeker, Egbert, Mehta, Sarju G, Hennekam, R. C. M., Prescott, K., Sisodiya, S., Mohammed, S., Wilson, Louise, Cox, H., Johnson, D. S., Mercer, C, Mohammed, S, Tatton-Brown, K, Redeker, E, Tolmie, John, Parker, Michael J., Meynert, Alison M, McEntagart, M., Vogt, Julie, Vogt, J, Chandler, K., Williamson, K., Fisher, R. B., Parker, M., et al., Magee, Alex C., Cox, H, Taylor, Martin S., Fryer, A, McKee, S. A., Ansari, M, Fryer, Alan, Firth, Helen V, Donnai, Dian, Firth, H. V., Hurst, JA, Lynch, Sally-Ann, Brady, A. F., Behnam, Mahdiyeh, Cooper, N. S., Parker, MJ, Pilz, Daniela T., Harrison, V, Parker, Michael J, Wakeling, Emma, Behnam, M, Cooper, NS, Lampe, AK, Johnson, Diana S, Clayton-Smith, J., McKee, SA, McConnell, V, Homfray, T, Tolmie, J, McConnell, V., Lam, Wayne K., Barnicoat, A., Davidson, R., Firth, HV, Bennett, Christopher P, Ross, A, Donnelly, Deirdre E, Pilz, DT, Cilliers, D., Hennekam, Raoul C M, Taylor, Martin S; id_orcid, Falkenberg Smeland, M, Harrison, V., Holder, Susan E., Mercer, C., Brady, Angela F., Thompson, EM, Josifova, D, Stewart, Fiona, Harrison, Victoria, Lynch, SA, Smeland, Marie Falkenberg, Mehta, Sarju G., Wilkie, A, Wakeling, E., Firth, Helen V., Cilliers, Deirdre, Flinter, F, Girisha, Katta M., Splitt, Miranda, Meynert, A. M., Mehta, SG, Lam, WK, Homfray, T., Kayserili, H, Wee, Jamie S, Mohammed, Shehla, Cox, Helen, Bengani, H, Brady, Angela F, Donnelly, DE, Hennekam, RC, Barnicoat, A, Sisodiya, Sanjay, Ferry, Q, Kinning, Esther, Kinning, E., Fisher, Richard B., Wee, JS, Meynert, Alison M., Magee, Alex C, Brady, AF, Nellaker, C., Bitner-Glindzicz, M., Mansour, S., Holder, SE, Prescott, Katrina, Cook, Jacqueline A, Williamson, Kathleen, Ruddy, D, Avci, S, Johnson, DS, Falkenberg Smeland, M., Stewart, F, Clayton-Smith, J, Lampe, A. K., Nellåker, C, Fryer, A., Smeland, M., Redeker, E., Girisha, K. M., Hurst, Jane A., Chandler, Kate, Avci, ahin, Nellåker, Christoffer, Lynch, S.-A., Ansari, Morad, FitzPatrick, David R, Wilson, L., Hennekam, Raoul C. M., Poke, G, Cilliers, D, Rosser, E., Ruddy, Deborah, Park, S.-M., Donnai, D, Wilkie, Andrew, Holden, Simon, Meynert, AM, Tatton-Brown, K., McKee, Shane A, Hennekam, R., Vogt, J., Magee, AC, Holder, Susan E, Ruddy, D., Aldridge, R, Williamson, K, Flinter, Frances, Mehta, S. G., Fisher, RB, Kinning, E, Park, SM, Prescott, K, Splitt, M, Josifova, Dragana, Girisha, Katta M, Holden, S., Rosser, E, Wakeling, E, Wilkie, A., Mercer, Catherine, Bengani, H., Ross, A., Kingston, H., Avci, Ş., Thompson, Elizabeth M, Rosser, Elisabeth, Cook, Jacqueline A., Ferry, Quentin, Sisodiya, S, Stewart, F., Behnam, M., Holden, S, Cook, J. A., Bennett, Christopher P., FitzPatrick, David R.   +259 more
core   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy

BMC Medical Genomics, 2020
Background Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial dysmorphism, growth retardation, developmental delay, intellectual disability and ...
Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong, Yiping Shen   +10 more
doaj   +1 more source

Individuals with Down Syndrome: Editorial

Brain Sciences, 2022
Down syndrome (DS) is the most common syndromic cause of intellectual disability, so it has long been of interest to researchers [...]
Silvia Lanfranchi, Chiara Meneghetti, Enrico Toffalini, Barbara Carretti   +3 more
doaj   +1 more source

The relationship of dementia prevalence in older adults with intellectual disability (ID) to age and severity of ID [PDF]

, 2009
Background: Previous research has shown that adults with intellectual disability (ID) may be more at risk of developing dementia in old age than expected. However, the effect of age and ID severity on dementia prevalence rates has never been reported. We
Hassiotis, A., Livingston, G., King, M., Strydom, A.   +3 more
core  

Quality Care for People with Intellectual Disability and Advanced Dementia: Guidance on Service Provision [PDF]

, 2018
Purpose of Report: The International Summit on Intellectual Disability and Dementia (Glasgow, Scotland; October 2016) noted that advanced dementia can be categorized as that stage of dementia progression characterized by significant losses in cognitive ...
Fortea, Juan, McCarron, Mary, Watchman, Karen, Hogan, Mary, Reilly, Evelyn, McCallion, Philip, Stemp, Sandy, Service, Kathy, Janicki, Matthew P, Coppus, Antonia   +9 more
core   +1 more source