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Journal of Autism and Developmental Disorders

Gepubliceerd in:

01-10-2008 | Original Paper

Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome

Auteurs: Elizabeth Berry-Kravis, Allison Sumis, Ok-Kyung Kim, Rebecca Lara, Joanne Wuu

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 9/2008

Abstract

Clinical trials targeting recently elucidated synaptic defects in fragile X syndrome (FXS) will require outcome measures capable of assessing short-term changes in cognitive functioning. Potentially useful measures for FXS were evaluated here in a test–retest setting in males and females with FXS (N = 46). Good reproducibility, determined by an interclass correlation (ICC) or weighted kappa (κ) of 0.7–0.9 was seen for RBANS List and Story Memory, NEPSY Tower, Woodcock–Johnson Spatial Relations and the commissions score from the Carolina Fragile X Project Continuous Performance Test (CPT). This study demonstrates the feasibility of generating test profiles containing reliability data, ability levels required for test performance, and refusal rates to assist with choice of outcome measures in FXS and other cohorts with cognitive disability.

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Antar, L. N., Afroz, R., Dictenberg, J. B., Carroll, R. C., & Bassell, G. J. (2004). Metabotropic glutamate receptor activation regulates fragile X mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses. Journal of Neuroscience, 24, 2648–2655.PubMedCrossRef

Aschrafi, A., Cunningham, B. A., Edelman, G. M., & Vanderklish, P. W. (2005). The fragile X mental retardation protein and group I metabotropic glutamate receptors regulate levels of mRNA granules in brain. Proceedings of the National Academy of Science USA, 102, 2180–2185.CrossRef

Bagni, C., & Greenough, W. T. (2005). From mRNP trafficking to spine dysmorphogenesis: The roots of fragile X syndrome. Nature Reviews Neuroscience, 6, 376–387.PubMedCrossRef

Bear, M. F. (2005). Therapeutic implications of the mGluR theory of fragile X mental retardation. Genes Brain and Behavior, 4, 393–398.CrossRef

Bear, M. F., Huber, K. M., & Warren, S. T., (2004). The mGluR theory of fragile X mental retardation. Trends in Neuroscience, 27, 370–377.CrossRef

Berry-Kravis, E., Grossman, A. W., Crnic, L. S., & Greenough W. T., (2002). Fragile X syndrome. Current Pediatrics, 2, 316–324.CrossRef

Berry-Kravis, E., Krause, S. E., Block, S., Guter, S., Wuu, J., Leurgans, S., et al. (2006). Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: A controlled trial. Journal of Child and Adolescent Psychopharmacology, 16, 525–540.PubMedCrossRef

Boutet, I. (2005a). Novel behavioral tests to evaluate treatment outcome in fragile X syndrome. Presented at: Translational Approaches to Fragile X Syndrome: Turning Basic Research Findngs into Therapeutic Targets. Banbury Center, Cold Spring Harbor, NY.

Boutet, I., Ryan, M., Kulaga, V., McShane, C., Christie, L. A., Freedman, M., et al. (2005b). Age-associated cognitive deficits in humans and dogs: A comparative neuropsychological approach. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 29, 433–441.PubMedCrossRef

Chuang, S.-C., Zhao, W., Bauschwitz, R., Yan, Q., Bianchi, R., & Wong, R. K. S. (2005). Prolonged epileptiform discharged induced by altered group I metabotropic glutamate receptor-mediated synaptic responses in hippocampal slices of a fragile X mouse model. Journal of Neuroscience, 25(35), 8048–8055.PubMedCrossRef

Devys, D., Lutz, Y., Rouyer, N., Belloc, J.-P., & Mandel, J.-L. (1993). The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genetics, 4, 335–340.PubMedCrossRef

Gabel, L. A., Won, S., Kawai, H., McKinney, M., Tartakoff, A. M., & Fallon, J. R. (2004). Visual experience regulates transient expression and dendritic localization of fragile X mental retardation protein. Journal of Neuroscience, 24, 10578–10583.CrossRef

Grossman, A. W., Aldridge, G. M., Weiler, I. J., & Greenough, W. T. (2006). Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond. Journal of Neuroscience, 26, 7151–7155.PubMedCrossRef

Huber, K. M., Gallagher. S. M., Warren, S. T., & Bear, M. F. (2002). Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proceedings of the National Academy of Science USA, 99, 7746–50.CrossRef

Irwin, S. A., Christmon, C. A., Grossman, A. W., Galvez, R., Kimm H. S., DeGrush, B. J., et al. (2005). Fragile X mental retardation protein levels increase following complex environment exposure in rat brain regions undergoing active synaptogenesis. Neurobiolgy of Learning and Memory, 83, 180–187.CrossRef

Irwin, S. A., Idupulapati, M., Gilbert, M. E., Harris, J. B., Chakravarti, A. B., Rogers, E. J., et al. (2002). Dendritic spine and dendritic field characteristics of later V pyramidal neurons in the visual cortex of fragile X-knockout mice. American Journal of Medical Genetics, 111, 140–146.PubMedCrossRef

Johnson-Glenberg, M. C. (2004). Patterns of memory in males with fragile X syndrome. 3rd Annual NICHD Fragile X Investigators’ Meeting. Washington, DC.

Korkman, M., Kirk, U., & Kemp, S. (1998). NEPSY: A developmental neuropsychological assessment. San Antonio, TX: The Psychological Corporation, Harcourt Brace and Company.

Li, J., Pelletier, M. R., Velazquez, J.-L. P., & Carlen, P. L. (2002). Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency. Molecular and Cellular Neuroscience, 19, 138–151.PubMedCrossRef

McBride, S., Choi, C. H., Wang, Y., Leibelt, D., Braunstein, E., Ferreiro, D., et al. (2005). Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a model of fragile X syndrome. Neuron, 45, 753–764.PubMedCrossRef

McCracken, J. T., McGough, J., Shah, B., Cronin, P., Hang, D., Aman, M. G., et al. (2002). Risperidone in children with autism and serious behavioral problems. New England Journal of Medicine, 347, 314–321.PubMedCrossRef

Randolph, C. (1998). Repeatable battery for the assessment of neuropsychological status (RBANS). San Antonio, TX: The Psychological Corporation, Harcourt Brace and Company.

Sullivan, K., Hatton, D. D., Hammer, J., Sideris, J., Hooper, S., Ornstein, P. A., et al. (2007). Sustained attention and response inhibition in boys with fragile X syndrome: Measures of continuous performance. American Journal of Medical Genetics, 144, 517–532.

Turner, G., Webb, T., Wake, S., & Robinson, H. (1996). Prevalence of fragile X syndrome. American Journal of Medical Genetics, 64, 196–197.PubMedCrossRef

Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905–914.PubMedCrossRef

Wechsler, D. (2003). Wechsler intelligence scale for children (4th ed.). San Antonio, TX: Harcourt Assessment.

Weiler, I. J., Spangler, C. C., Klintsova, A. Y., Grossman, A. W., Kim, S. H., Bertaina-Anglade, V., et al. (2004). Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses. Proceedings of the National Academy of Science USA, 101, 17329–17330.CrossRef

Woodcock, R. W., & Johnson, M. B. (1990). Woodcock–Johnson psycho-educational battery—revised. Allen, TX: DLM Teaching Resources.

Yan, Q. J., Rammal, M., Tranfaglia, M., & Baucgwitz, R. P. (2005). Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP. Neuropharmacology, 49, 1053–1066.PubMedCrossRef

Titel: Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome
Auteurs: Elizabeth Berry-Kravis
Allison Sumis
Ok-Kyung Kim
Rebecca Lara
Joanne Wuu
Publicatiedatum: 01-10-2008
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 9/2008
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-008-0564-8

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