Results 111 to 120 of about 2,296,312 (307)

What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Improving care and research for individuals with genetic intellectual disabilities (GID) requires the identification and measurement of relevant patient reported outcomes (PROs). PROs represent the patient perspective on their health status.
Nadia Y. van Silfhout, Maud M. van Muilekom, Leonie A. Menke, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen   +5 more
wiley   +1 more source

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]

, 2015
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J, Bui, Quang M, Francis, David, Godler, David E, Hagerman, Randi J, Herlihy, Amy S, Hopper, John L, Inaba, Yoshimi, Li, Xin, Metcalfe, Sylvia A, Schwartz, Charles E, Shi, Elva Z, Skinner, Cindy, Slater, Howard R   +13 more
core   +2 more sources

Assessment of Posttraumatic Stress Disorder in Adults With Severe or Moderate Intellectual Disability Using the Diagnostic Interview Trauma and Stressors–Severe Intellectual Disability

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Introduction Until recently, no diagnostic instrument was available to classify posttraumatic stress disorder (PTSD) in individuals with severe or moderate intellectual disability (SID). This study investigates the Diagnostic Interview Trauma and Stressors–Severe Intellectual Disability (DITS‐SID), a caregiver‐administered interview ...
Annemieke Hoogstad, Samantha Bouwmeester, Liesbeth Mevissen, Robert Didden   +3 more
wiley   +1 more source

Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome

International Journal of Molecular Sciences, 2019
Rett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder typically affecting females, resulting in a range of symptoms including autistic features, intellectual impairment, motor deterioration, and autonomic abnormalities.
Uri Kahanovitch, Kelsey C. Patterson, Raymundo Hernandez, M. Olsen   +3 more
semanticscholar   +1 more source

Autism as a disorder of neural information processing: directions for research and targets for therapy [PDF]

, 2004
The broad variation in phenotypes and severities within autism spectrum disorders suggests the involvement of multiple predisposing factors, interacting in complex ways with normal developmental courses and gradients. Identification of these factors, and
A Klin, A Klin, A Peters, A Pickles, A Shah, A Shah, AL Beaudet, AM Comi, AM Connolly, AY Hardan, BF Sparks, BK Lipska, C Hughes, C Hughes, C Kemner, C Kemner, C Lord, C Park, CF Hohmann, CJ Machado, Cohen, CT Ashley Jr, D Tantam, D Whitehouse, DB Bailey Jr, DH Geschwind, DJ Laurie, DJ Posey, DL Braff, DR Denney, DW Smith, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Fombonne, E Fransen, E Perry, E Tierney, EF Chang, EH Aylward, EH Aylward, EH Cook Jr, EH Cook Jr, EM Ornitz, EM Powell, F Castelli, F Graham, F Happ, F Kimura, G Raymond, GE Homanics, GJ Blatt, GM Anderson, GM McAlonan, GS Huh, GS Tint, GT Baranek, H Kamiguchi, H van Engeland, HA Ring, HD Critchley, I Cohen, I Krause, I Lucki, IJ Weiler, IM Smith, J Boucher, J Caston, J DeFelipe, J Piven, J Piven, J Piven, J Russell, J Townsend, J Townsend, J Townsend, J Veenstra-VanderWeele, J.L. McCauley, JA Burack, JA Court, JA Lamb, JE Long, JK Pritchard, JL Ingram, JLR Rubenstein, JM Silverman, JP Wisor, K Ballaban-Gil, K Hugdahl, K Pierce, K Pierce, K Rubia, KC Plaisted, KG Plaisted, KY Miyashiro, L Jorde, L Mottron, L Shi, LH Rolf, LJ Miller, LM Boulanger, LM Marubio, LR Cardon, M Alkondon, M Hallett, M Kuwamura, M Lauritsen, M Lee, M Pieretti, M Toichi, MA Geyer, MA Geyer, MA O'Riordan, Martha R. Herbert, MF Casanova, MH Johnson, MK Belmonte, MK Belmonte, MK Belmonte, ML Bauman, MR Picciotto, MR Young, MV Pletnikov, N Akshoomoff, N Risch, NL Ward, NR Mirza, NR Swerdlow, NR Swerdlow, O Marin, P Dalton, P Tueting, PH Patterson, PI Yakovlev, PK Todd, PM Whitaker-Azmitia, R DeLong, R Galvez, R Lalonde, R-A Müller, RA Carper, RA Corriveau, RC Belser, RE Amir, RI Kelley, RJ Schain, RM Carney, RN Leaton, RP Hobson, RP Warren, RP Warren, RP Warren, RT Schultz, S Alcantara, S Anderson, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Bobee, S Chakrabarti, S Gupta, S Jamain, S Ozonoff, S Stevens, S Tordjman, S Tordjman, SA Irwin, SA Irwin, SB Powell, SD Ugarte, SE Folstein, SE Folstein, SH Fatemi, SJ Kim, SJ Rogers, T Hashimoto, T Rogers, T Stühmer, T Stühmer, TA Comery, TH Wassink, TK Hensch, TM DeLorey, U Frith, U Frith, W Hirstein, W Reik, WT Greenough, Y Yu, YH Jiang, YH Jiang   +197 more
core   +1 more source

Full‐Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) Improves Symptoms of Rett Syndrome: An Open‐Label Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim The aim of this Phase I/II open‐label study was to assess the safety and efficacy of NTI164, a novel full‐spectrum medicinal cannabis plant extract 0.08% Δ‐9‐tetrahydrocannabinol (THC), in Rett syndrome (RTT). Methods Eleven female participants (5–16 years) with a pathogenic variant in the MECP2 gene were recruited to this study, receiving
B. A. Keating, Y. Ogru, T. G. Duthy, L. Douglas, K. Lichkus, E. Isikgel, M. C. Fahey, C. Ellaway   +7 more
wiley   +1 more source

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

International Journal of Molecular Sciences, 2019
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitive and physical disabilities, and is one of the most prevalent causes of intellectual disability in females.
S. Vidal, Clara Xiol, Ainhoa Pascual-Alonso, M. O’Callaghan, M. Pineda, J. Armstrong   +5 more
semanticscholar   +1 more source

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation [PDF]

, 2006
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental ...
Badaracco G., Bertani I., Bolognese F., Conca B., De Monte L., Forlani G., Kilstrup-Nielsen C., Landsberger N., Rusconi L.   +8 more
core   +1 more source

Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years' Experience From an Australian Multidisciplinary Management Clinic

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim This study reviewed the nutritional status, feeding skills, safety, and management of patients with Rett syndrome during childhood and adolescence. Method Retrospective chart review of 103 females with classical Rett syndrome, aged ≤ 18 years, attending a Rett syndrome Multidisciplinary Management clinic in a tertiary hospital from 2000 to
Susan Thompson, Toni Bird, Gloria Tzannes, Carolyn Ellaway   +3 more
wiley   +1 more source

Transposable Elements, Inflammation, and Neurological Disease. [PDF]

, 2019
Transposable Elements (TE) are mobile DNA elements that can replicate and insert themselves into different locations within the host genome. Their propensity to self-propagate has a myriad of consequences and yet their biological significance is not well-
Macia, Angela, Muotri, Alysson R, Saleh, Aurian   +2 more
core