Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-8448b6f56d-t5pn6 Total loading time: 0 Render date: 2024-04-24T23:35:50.020Z Has data issue: false hasContentIssue false

3 - Advances in clinical endpoints for neurocognitive rehabilitation in Down syndrome

Published online by Cambridge University Press:  05 July 2011

By
Jamie Edgin ,
Goffredina Spanō  and
Lynn Nadel
Edited by
Jean-Adolphe Rondal ,
Juan Perera  and
Donna Spiker
Jamie Edgin
Affiliation:
University of Arizona
Goffredina Spanō
Affiliation:
University of Arizona
Lynn Nadel
Affiliation:
University of Arizona
Jean-Adolphe Rondal
Affiliation:
Université de Liège, Belgium
Juan Perera
Affiliation:
Universitat de les Illes Balears, Palma de Mallorca
Donna Spiker
Affiliation:
Stanford Research Institute International
Get access

Summary

Considerable progress in our understanding of the cognitive profile of Down syndrome (DS) has occurred in the last decade. Complementing this progress has been a series of landmark studies highlighting promise for pharmacological intervention for cognitive deficits in this population (Fernandez et al., 2007; Salehi et al., 2009). Movement forward has also been demonstrated by the development of behavioral cognitive interventions targeting specific aspects of the cognitive profile (e.g. Fidler et al., Chapter 15 of this book). With pharmacological and behavioral clinical trials coming to fruition in the next few years, there is an immediate need for valid and reliable clinical endpoints in DS. These trials will only be meaningful if they include a battery of measurements that are well suited for this population and sensitive enough to detect change. Our group has been involved in the development of such a battery, the Arizona Cognitive Test Battery (ACTB) (Figure 3.1), which serves as a foundation for assessing characteristics of the phenotype of DS.

The history of pharmacological and dietary interventions for the cognitive deficits in humans with DS is largely one of disappointment (Salman, 2002). A number of drugs [e.g. drugs used in Alzheimer's disease, such as donepezil (Prasher et al., 2002)] or dietary supplements currently on the market have been tested for use in individuals with DS, with little effect on the whole.

Type
Chapter
Information
Neurocognitive Rehabilitation of Down Syndrome
Early Years
 , pp. 36 - 51
Publisher: Cambridge University Press
Print publication year: 2011

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Abbeduto, L., Murphy, M. M., Cawthon, S. W., et al. (2003). Receptive language skills of adolescents and young adults with Down syndrome or fragile X syndrome. American Journal on Mental Retardation, 108, 149–160.2.0.CO;2>CrossRefGoogle ScholarPubMed
Alloway, T. P., Gathercole, S. E., Pickering, S. J. (2004). The Automated Working Memory Assessment. Test battery available from authors.
Aman, M. G., Tassé, M. J., Rojahn, J., Hammer, D. (1996). The Nisonger CBRF: a child behavior rating form for children with developmental disabilities. Research in Developmental Disabilities, 17(1), 41–57.CrossRefGoogle ScholarPubMed
Arnold, L. E., Aman, M.G., Martin, A., et al. (2000). Assessment in multisite randomized clinical trials of patients with autistic disorder: the Autism RUPP Network. Journal of Autism and Developmental Disorders, 30, 99–111.CrossRefGoogle ScholarPubMed
Bishop, D. V. M. (1989). Test for Reception of Grammar (2nd edn.). Manchester: Chapel Press.Google Scholar
Bruininks, R. K., Woodcock, R. W., Weatherman, R. F., Hill, B. K. (1997). Scales of Independent Behavior–Revised (SIB-R). The Rolling Meadows: Riverside.Google Scholar
Burt, D. & Aylward, E. (2000). Test battery for the diagnosis of dementia in individuals with intellectual disability. Journal of Intellectual Disability Research, 44, 262–270.Google Scholar
Capone, G., Goyal, P., Ares, W., Lannigan, E. (2006). Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 142C, 158–172.CrossRefGoogle Scholar
Carlesimo, G. A., Marotta, L., Vicari, S. (1997). Long-term memory in mental retardation: evidence for a specific impairment in subjects with Down's syndrome. Neuropsychologia, 35, 71–79.CrossRefGoogle ScholarPubMed
Casey, B. J., Giedd, J. N., Thomas, K. M. (2000). Structural and functional brain development and its relation to cognitive development. Biological Psychology, 54, 241–257.CrossRefGoogle ScholarPubMed
Chapman, R. S. (1995). Language development in children and adolescents with Down Syndrome. In P. Fletcher & B. MacWhinney (eds.), The Handbook of Child Language, pp. 664–689. Oxford: Blackwell.Google Scholar
Chapman, R. S., Hesketh, L. J., Kistler, D. (2002). Predicting longitudinal change in language production and comprehension in individuals with Down syndrome: hierarchical linear modeling. Journal of Speech, Language, and Hearing Research, 45, 902–915.CrossRefGoogle ScholarPubMed
Crosby, R. D., Kolotkin, R. L., Williams, G. R. (2003). Defining clinically meaningful change in health-related quality of life. Journal of Clinical Epidemiology, 56, 395–407.CrossRefGoogle ScholarPubMed
Davidson, M. C., Amso, D., Anderson, L. C., Diamond, A. (2006). Development of cognitive control and executive functions from 4 to 13 years: evidence from manipulations of memory, inhibition, and task switching. Neuropsychologia, 44, 2037–2078.CrossRefGoogle ScholarPubMed
Diamond, A. & Goldman-Rakic, P. S. (1989). Comparison of human infants and rhesus monkeys on Piaget's A-not-B task: evidence for dependence on dorsolateral prefrontal cortex. Experimental Brain Research, 74, 24–40.CrossRefGoogle ScholarPubMed
DiGuiseppi, C., Hepburn, S., Davis, J. M., et al. (2010). Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics. Journal of Developmental & Behavioral Pediatrics, 31(3), 181–191.CrossRefGoogle ScholarPubMed
Dunn, L. M. & Dunn, D. M. (2007). Peabody Picture Vocabulary Test (4th edn.). Minneapolis: Pearson Assessments.Google Scholar
Dykens, E.M., Hodapp, R.M., Evans, D.W. (2006). Profiles and development of adaptive behavior in children with Down syndrome. Down Syndrome Research and Practice, 9(3), 45–50.CrossRefGoogle ScholarPubMed
Edgin, J. O. (2003). A neuropsychological model for the development of the cognitive profiles in mental retardation syndromes: evidence from Down syndrome and Williams syndrome [doctoral dissertation]. Denver: University of Denver.Google Scholar
Edgin, J. O., Mason, G., Allman, M. J., et al. (2010a). Development and validation of the Arizona Cognitive Test Battery for Down syndrome. Journal of Neurodevelopmental Disorders, 2, 149–164.CrossRefGoogle ScholarPubMed
Edgin, J. O., Pennington, B. F., Mervis, C. B. (2010b). Neuropsychological components of intellectual disability: the contributions of immediate, working, and associative memory. Journal of Intellectual Disability Research, 54, 406–417.CrossRefGoogle ScholarPubMed
Elliott, C. D. (2007). Differential Ability Scales (2nd edn): Introductory and Technical Handbook. San Antonio: The Psychological Corporation.Google Scholar
Fernandez, F., Morishita, W., Zuniga, E., et al. (2007). Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nature Neuroscience, 10, 411–413.CrossRefGoogle Scholar
Fidler, D. J. & Nadel, L. (2007). Education and children with Down Syndrome: neuroscience, development, and intervention. Mental Retardation and Developmental Disabilities Research Reviews, 13, 262–271.CrossRefGoogle Scholar
Frith, U. & Frith, C. D. (1974). Specific motor disabilities in Down's syndrome. Journal of Child Psychology and Psychiatry, 15, 293–301.CrossRefGoogle ScholarPubMed
Gioia, G. A., Isquith, P. K., Guy, S. C., Kenworthy, L. (2000). Behavior Rating Inventory of Executive Function. Odessa: Psychological Assessment Resources.Google Scholar
Hageman, W. L. & Arrindell, W. A. (1993). A further refinement of the reliable change index by improving the pre–post difference score: introducing the RCID. Behaviour Research and Therapy, 51, 693–700.CrossRefGoogle Scholar
Haxby, J. V. (1989). Neuropsychological evaluation of adults with Down's syndrome: patterns of selective impairment in non-demented old adults. Journal of Mental Deficiency Research, 33, 193–210.Google ScholarPubMed
Heaton, R. K., Chelune, G. J., Talley, J. L., Kay, G. G., Curtiss, G. (1993). Wisconsin Card Sorting Test Manual: Revised and Expanded. Odessa: Psychological Assessment Resources.Google Scholar
Heller, J. H., Spiridigliozzi, G. A., Crissman, B. G., et al. (2006). Clinical trials in children with Down syndrome: issues from a cognitive research perspective. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 142C, 187–195.CrossRefGoogle ScholarPubMed
Heller, J. H., Spiridigliozzi, G. A., Doraiswamy, P. M., et al. (2004). Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial. American Journal of Medical Genetics. Part A, Seminars in Medical Genetics, 130A, 325–326.CrossRefGoogle ScholarPubMed
Hessl, D., Danh, V., Nguyen, C. G., et al. (2009). A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome. Journal of Neurodevelopmental Disorders, 1, 33–45.CrossRefGoogle ScholarPubMed
Hodapp, R. M. & Zigler, E. F. (1990). Applying the developmental perspective to individuals with Down syndrome. In D. Cicchetti & M. Beeghly (eds.), Children with Down Syndrome: A Developmental Perspective, pp. 1–28. New York: Cambridge University Press.Google Scholar
Hyde, L. A, Frisone, D. F., Crnic, L. S. (2001). Ts65Dn mice, a model for Down syndrome, have deficits in context discrimination learning suggesting impaired hippocampal function. Behavioural Brain Research, 118, 53–60.CrossRefGoogle ScholarPubMed
Jarrold, C., Baddeley, A., Phillips, C. E. (2002). Verbal short-term memory in Down syndrome: a problem of memory, audition or speech? Journal of Speech, Language and Hearing Research, 45, 531–544.CrossRefGoogle ScholarPubMed
Kaufman, A. S. & Kaufman, N. L. (2004). Kaufman Brief Intelligence Test (2nd edn.). Bloomington: Pearson.Google Scholar
Kim, N. D., Yoon, J., Kim, J. H., et al. (2006). Putative therapeutic agents for the learning and memory deficits of people with Down syndrome. Bioorganic & Medicinal Chemistry Letters, 16, 3772–3776.CrossRefGoogle ScholarPubMed
Kleschevnikov, A. M., Belichenko, P. V., Villar, A. J., et al. (2004). Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome. Journal of Neuroscience, 24, 8153–8160.CrossRefGoogle ScholarPubMed
Korkman, M., Kirk, U., Kemp, S. (1998). NEPSY: A Developmental Neuropsychological Assessment. San Antonio: The Psychological Corporation.Google Scholar
Loewenstein, D. & Acevedo, A. (2010). The relationship between instrumental activities of daily living and neuropsychological performance. In T. D. Marcotte & I. Grant (eds.), Neuropsychology of Everyday Functioning, pp. 93–112. New York: Guilford.Google Scholar
Lowe, C. & Rabbitt, P. (1998). Test/re-test reliability of the CANTAB and ISPOCD neuropsychological batteries: theoretical and practical issues. Cambridge Neuropsychological Test Automated Battery. International Study of Post-operative Cognitive Function. Neuropsychologia, 36, 915–923.CrossRefGoogle Scholar
Luciana, M. & Nelson, C. (2002). Assessment of neuropsychological function through use of the Cambridge Neuropsychological Testing Automated Battery: performance in 4- to 12-year-old children. Developmental Neuropsychology, 22, 595–624.CrossRefGoogle ScholarPubMed
Martin, R. C. (2005). Components of short-term memory and their relation to language processing: evidence from neuropsychology and neuroimaging. Current Directions in Psychological Science, 14, 204–208.CrossRefGoogle Scholar
Mervis, C. B. & Morris, C. A. (2007). Williams syndrome. In M. M. M. Mazzocco & J. L. Ross (eds.), Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood, pp. 199–262. Cambridge: MIT Press.Google Scholar
Mervis, C.B. & Robinson, B.F. (2005). Designing measures for profiling and genotype/phenotype studies of individuals with genetic syndromes or developmental language disorders. Applied Psycholinguistics, 26, 41–64.CrossRefGoogle Scholar
Meyer-Lindenberg, A., Mervis, C.B., Sarpal, D., et al. (2005). Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. Journal of Clinical Investigation, 115, 1888–1895.CrossRefGoogle ScholarPubMed
Miller, J. F. (1992). Development of speech and language in children with Down Syndrome. In I. T. Lott & E. E. McCoy (eds.), Down Syndrome: Advances in Medical Care, pp. 39–50. New York: Wiley-Liss.Google Scholar
Mostofsky, S. H., Powell, S. K., Simmonds, D. J., et al. (2009). Decreased connectivity and cerebellar activity in autism during motor task performance. Brain, 132, 2413–2425.CrossRefGoogle ScholarPubMed
Murray, E. A. & Richmond, B. J. (2001). Role of perirhinal cortex in object perception, memory, and associations. Current Opinion in Neuro Biology, 11, 188–193.CrossRefGoogle ScholarPubMed
Nadel, L. (2003). Down's syndrome: a genetic disorder in biobehavioral perspective. Genes, Brain and Behavior, 2(3), 156–166.CrossRefGoogle ScholarPubMed
Olson, L. E., Roper, R. J., Baxter, L. L., et al. (2004). Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes. Developmental Dynamics, 230, 581–589.CrossRefGoogle ScholarPubMed
Pennington, B. F., Moon, J., Edgin, J., Stedron, J., Nadel, L. (2003). The neuropsychology of Down syndrome: evidence for hippocampal dysfunction. Child Development, 74, 75–93.CrossRefGoogle ScholarPubMed
Pinter, J. D., Eliez, S., Schmitt, J. E., Capone, G. T., Reiss, A. L. (2001). Neuroanatomy of Down's syndrome: a high-resolution MRI study. The American Journal of Psychiatry, 158, 1659–1665.CrossRefGoogle ScholarPubMed
Prasher, V. P., Huxley, A., Haque, M. S. (2002). The Down syndrome ageing study group, a 24-week, double-blind, placebo-controlled trial of donepezil in patients with Down syndrome and Alzheimer's disease – pilot study. International Journal of Geriatric Psychiatry, 17, 270–278.CrossRefGoogle Scholar
Roid, G. H. (2003). Stanford–Binet Intelligence Scale Manual (5th edn.). Itasca, IL: Riverside.Google Scholar
Rondal, J. A. & Comblain, A. (2002). Language in ageing persons with Down syndrome. Down Syndrome Research and Practice, 8(1), 1–9.CrossRefGoogle ScholarPubMed
Roper, R. J., Baxter, L. L., Saran, N. G., et al. (2006). Defective cerebellar response to mitogenic Hedgehog signaling in Down syndrome mice. Proceedings of the National Academy of Sciences of the United States of America, 103, 1452–1456.CrossRefGoogle ScholarPubMed
Rowe, J., Lavender, A., Turk, V. (2006). Cognitive executive function in Down's syndrome. British Journal of Clinical Psychology, 45, 5–17.CrossRefGoogle ScholarPubMed
Rueda, N., Florez, J., Martinez-Cue, C. (2008). Chronic pentylenetetrazole but not donepezil treatment rescues spatial cognition in Ts65Dn mice, a model for Down syndrome. Neuroscience Letters, 433, 22–27.CrossRefGoogle Scholar
Salehi, A., Faizi, M., Colas, D., et al. (2009). Restoration of norepinephrine modulated contextual memory in a mouse model of Down syndrome. Science Translational Medicine, 1(7), 7–17.CrossRefGoogle Scholar
Salman, M. S. (2002). Systematic review of the effect of therapeutic dietary supplements and drugs on cognitive function in subjects with Down syndrome. European Journal of Paediatric Neurology, 6, 213–219.CrossRefGoogle ScholarPubMed
Semel, E., Wiig, E., Secord, W. (1980). CELF: Clinical Evaluation of Language Fundamentals. San Antonio: Psychological Corporation.Google Scholar
Seung, H. K. & Chapman, R. (2000). Digit span in individuals with Down syndrome and in typically developing children: temporal aspects. Journal of Speech, Language, and Hearing Research, 43, 609–620.CrossRefGoogle ScholarPubMed
Shamloo, M., Belichenko, P. V., Mobley, W. C. (2010). Comprehensive behavioral assays to enhance phenotype to genotype linkages and therapeutic screening in mouse models of Down syndrome. Future Neurology, 5, 467–471.CrossRefGoogle Scholar
Silva, A. J. & Ehninger, D. (2009). Adult reversal of cognitive phenotypes in neurodevelopmental disorders. Journal of Neurodevelopmental Disorders, 1, 150–157.CrossRefGoogle ScholarPubMed
Stedron, J. (2004). Cerebellar function in Down syndrome. (doctoral dissertation). Denver: University of Denver.Google Scholar
Tandyasraya, P. & Mason, G. (2010). Parental stress and child characteristics of children with Down syndrome. Poster presented at the annual meeting of The American Association for the Advancement of Science (AAAS), San Diego, CA.Google Scholar
Thomas, K. G. F., Hsu, M., Laurance, H. E., Nadel, L., Jacobs, W. W. (2001). Place learning in virtual space III: investigation of spatial navigation training procedures and their application to fMRI and clinical neuropsychology. Behavior Research Methods, Instruments, & Computers, 33(1), 21–37.CrossRefGoogle ScholarPubMed
Vicari, S. & Carlesimo, G. A. (2006). Short-term memory deficits are not uniform in Down and Williams syndromes. Neuropsychology Review, 16, 87–94.CrossRefGoogle Scholar
Villers-Sidani, E., Alzghoul, L., Zhou, X., et al. (2010). Recovery of functional and structural age-related changes in the rat primary auditory cortex with operant training. Proceedings of the National Academy of Sciences of the United States of America, 107(31), 13900–13905.CrossRefGoogle ScholarPubMed
Visu-Petra, L., Benga, O., Tincas, I., Miclea, M. (2007). Visual-spatial processing in children and adolescents with Down's syndrome: a computerized assessment of memory skills. Journal of Intellectual Disability Research, 51, 942–952.CrossRefGoogle ScholarPubMed
Wang, P. P. & Bellugi, U. (1994). Evidence from two genetic syndromes for a dissociation between verbal and visual-spatial short-term memory. Journal of Clinical and Experimental Neuropsychology, 16, 317–322.CrossRefGoogle ScholarPubMed
Williams, K. T. (2007). Expressive Vocabulary Test (2nd edn.). Minneapolis: Pearson Assessments.Google Scholar
Woodruff-Pak, D. S., Papka, M., Simon, E. (1994). Eyeblink classical conditioning in Down's Syndrome, Fragile X syndrome and normal adults over and under age 35. Neuropsychology, 8, 14–24.CrossRefGoogle Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×