Neurological phenotypes for Down syndrome across the life span

Progress in Brain Research

Volumn 197, Issue , 2012, Pages 101-121

  Lott, Ira T ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Brain development; Clinical trials; Dementia; Down syndrome; Hypotonia; Seizures

Indexed keywords

AMYLOID BETA PROTEIN; DONEPEZIL; GALANTAMINE; RIVASTIGMINE;

AGING; ALZHEIMER DISEASE; ANEUPLOIDY; ARTICLE; BEHAVIOR DISORDER; BRAIN DEVELOPMENT; BRAIN REGION; CHROMOSOME 21; COGNITION; COGNITIVE DEFECT; COMORBIDITY; DEMENTIA; DOWN SYNDROME; ELECTROENCEPHALOGRAPHY; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GAIT; GENE OVEREXPRESSION; GENETIC VARIABILITY; GLUCOSE METABOLISM; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; JOINT LAXITY; LIFESPAN; MENTAL PERFORMANCE; MUSCLE HYPOTONIA; NERVE CELL PLASTICITY; NERVE DEGENERATION; NEUROANATOMY; NEUROCHEMISTRY; NEUROPATHOLOGY; NONHUMAN; OXIDATIVE STRESS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SEIZURE; SLEEP APNEA SYNDROME;

EID: 84860330689     PISSN: 00796123     EISSN: 18757855     Source Type: Book Series    
DOI: 10.1016/B978-0-444-54299-1.00006-6     Document Type: Chapter

References (159)

1. Agiovlasitis S., McCubbin J.A., Yun J., Pavol M.J., Widrick J.J. Economy and preferred speed of walking in adults with and without Down syndrome. Adapted Physical Activity Quarterly 2009, 26:118-130.
2. Amaral D.G., Schumann C.M., Nordahl C.W. Neuroanatomy of autism. Trends in Neurosciences 2008, 31:137-145.
3. Andrade D.M. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Human Genetics 2009, 126:173-193.
4. Andreou G., Galanopoulou C., Gourgoulianis K., Karapetsas A., Molyvdas P. Cognitive status in Down syndrome individuals with sleep disordered breathing deficits (SDB). Brain and Cognition 2002, 50:145-149.
5. Andriolo R.B., El Dib R.P., Ramos L., Atallah A.N., da Silva E.M. Aerobic exercise training programmes for improving physical and psychosocial health in adults with Down syndrome. Cochrane Database of Systematic Reviews 2010, CD005176.
6. Arya R., Kabra M., Gulati S. Epilepsy in children with Down syndrome. Epileptic Disorders 2011, 13:1-7.
7. Azizeh B.Y., Head E., Ibrahim M.A., Torp R., Tenner A.J., Kim R.C., et al. Molecular dating of senile plaques in the brains of individuals with Down syndrome and in aged dogs. Experimental Neurology 2000, 163:111-122.
8. Baek K.H., Zaslavsky A., Lynch R.C., Britt C., Okada Y., Siarey R.J., et al. Down's syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1. Nature 2009, 459:1126-1130.
9. Baroncelli L., Braschi C., Spolidoro M., Begenisic T., Maffei L., Sale A. Brain plasticity and disease: A matter of inhibition. Neural Plasticity 2011, 2011:286073.
10. Bass J.L., Corwin M., Gozal D., Moore C., Nishida H., Parker S., et al. The effect of chronic or intermittent hypoxia on cognition in childhood: A review of the evidence. Pediatrics 2004, 114:805-816.
11. Becker L., Mito T., Takashima S., Onodera K. Growth and development of the brain in Down syndrome. Progress in Clinical and Biological Research 1991, 373:133-152.
12. Braak H., del Tredici K. The pathological process underlying Alzheimer's disease in individuals under thirty. Acta Neuropathologica 2011, 121:171-181.
13. Braudeau J., Dauphinot L., Duchon A., Loistron A., Dodd R.H., Herault Y., et al. Chronic treatment with a promnesiant GABA-A alpha5-selective inverse agonist increases immediate early genes expression during memory processing in mice and rectifies their expression levels in a Down syndrome mouse model. Advances in Pharmacological Sciences 2011, 2011:153218.
14. Braudeau J., Delatour B., Duchon A., Pereira P.L., Dauphinot L., de Chaumont F., et al. Specific targeting of the GABA-A receptor alpha5 subtype by a selective inverse agonist restores cognitive deficits in Down syndrome mice. Journal of Psychopharmacology 2011, 25:1030-1042.
15. Brodtmann A. Hashimoto encephalopathy and Down syndrome. Archives of Neurology 2009, 66:663-666.
16. Buschert V., Bokde A.L., Hampel H. Cognitive intervention in Alzheimer disease. Nature Reviews Neurology 2010, 6:508-517.
17. Campos C., Guzman R., Lopez-Fernandez E., Casado A. Urinary uric acid and antioxidant capacity in children and adults with Down syndrome. Clinical Biochemistry 2010, 43:228-233.
18. Carr J. Mental and motor development in young Mongol children. Journal of Mental Deficiency Research 1970, 14:205-220.
19. Cetiner S., Demirhan O., Inal T.C., Tastemir D., Sertdemir Y. Analysis of peripheral blood T-cell subsets, natural killer cells and serum levels of cytokines in children with Down syndrome. International Journal of Immunogenetics 2010, 37:233-237.
20. Chang Q., Gold P.E. Age-related changes in memory and in acetylcholine functions in the hippocampus in the Ts65Dn mouse, a model of Down syndrome. Neurobiology of Learning and Memory 2008, 89:167-177.
21. Charlot L., Abend S., Ravin P., Mastis K., Hunt A., Deutsch C. Non-psychiatric health problems among psychiatric inpatients with intellectual disabilities. Journal of Intellectual Disability Research 2011, 55:199-209.
22. Cleland J., Wood S., Hardcastle W., Wishart J., Timmins C. Relationship between speech, oromotor, language and cognitive abilities in children with Down's syndrome. International Journal of Language & Communication Disorders 2010, 45:83-95.
23. Conners F.A., Moore M.S., Loveall S.J., Merrill E.C. Memory profiles of Down, Williams, and fragile X syndromes: Implications for reading development. Journal of Developmental and Behavioral Pediatrics 2011, 32:405-417.
24. Contestabile A., Fila T., Ceccarelli C., Bonasoni P., Bonapace L., Santini D., et al. Cell cycle alteration and decreased cell proliferation in the hippocampal dentate gyrus and in the neocortical germinal matrix of fetuses with Down syndrome and in Ts65Dn mice. Hippocampus 2007, 17:665-678.
25. Cooper J.D., Salehi A., Delcroix J.D., Howe C.L., Belichenko P.V., Chua-Couzens J., et al. Failed retrograde transport of NGF in a mouse model of Down's syndrome: reversal of cholinergic neurodegenerative phenotypes following NGF infusion. Proceedings of the National Academy of Sciences of the United States of America 2001, 98:10439-10444.
26. Correia N., Mullally S., Cooke G., Tun T.K., Phelan N., Feeney J., et al. Evidence for a specific defect in hippocampal memory in overt and subclinical hypothyroidism. The Journal of Clinical Endocrinology and Metabolism 2009, 94:3789-3797.
27. Coskun P.E., Wyrembak J., Derbereva O., Melkonian G., Doran E., Lott I.T., et al. Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and Down syndrome dementia. Journal of Alzheimer's Disease 2010, 20(Suppl. 2):S293-S310.
28. Costa A.C. On the promise of pharmacotherapies targeted at cognitive and neurodegenerative components of Down syndrome. Developmental Neuroscience 2011, 33:414-427.
29. Couzens D., Cuskelly M., Haynes M. Cognitive development and Down syndrome: Age-related change on the Stanford-Binet test (fourth edition). American Journal on Intellectual and Developmental Disabilities 2011, 116:181-204.
30. Coyle J.T., Oster-Granite M.L., Gearhart J.D. The neurobiologic consequences of Down syndrome. Brain Research Bulletin 1986, 16:773-787.
31. Das I., Reeves R.H. The use of mouse models to understand and improve cognitive deficits in Down syndrome. Disease Models & Mechanisms 2011, 4:596-606.
32. de Simone R., Puig X.S., Gélisse P., Crespel A., Genton P. Senile myoclonic epilepsy: Delineation of a common condition associated with Alzheimer's disease in Down syndrome. Seizure 2010, 19:383-389.
33. Dierssen M., de Lagran M.M. DYRK1A (dual-specificity tyrosine-phosphorylated and -regulated kinase 1A): A gene with dosage effect during development and neurogenesis. TheScientificWorldJOURNAL 2006, 6:1911-1922.
34. Diguiseppi C., Hepburn S., Davis J.M., Fidler D.J., Hartway S., Lee N.R., et al. Screening for autism spectrum disorders in children with Down syndrome: Population prevalence and screening test characteristics. Journal of Developmental and Behavioral Pediatrics 2010, 31:181-191.
35. Dogliotti G., Galliera E., Dozio E., Vianello E., Villa R.E., Licastro F., et al. Okadaic acid induces apoptosis in Down syndrome fibroblasts. Toxicology In Vitro 2010, 24:815-821.
36. Dressler A., Perelli V., Feucht M., Bargagna S. Adaptive behaviour in Down syndrome: A cross-sectional study from childhood to adulthood. Wiener Klinische Wochenschrift 2010, 122:673-680.
37. Dykens E.M. Psychiatric and behavioral disorders in persons with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews 2007, 13:272-278.
38. Dykens E.M., Hodapp R.M., Evans D.W. Profiles and development of adaptive behavior in children with Down syndrome. Down's Syndrome, Research and Practice 2006, 9:45-50.
39. Dykens E.M., Kasari C. Maladaptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation. American Journal of Mental Retardation 1997, 102:228-237.
40. Edgin J.O., Mason G.M., Allman M.J., Capone G.T., Deleon I., Maslen C., et al. Development and validation of the Arizona Cognitive Test Battery for Down syndrome. Journal of Neurodevelopmental Disorders 2010, 2:149-164.
41. Edgin J.O., Pennington B.F., Mervis C.B. Neuropsychological components of intellectual disability: The contributions of immediate, working, and associative memory. Journal of Intellectual Disability Research 2010, 54:406-417.
42. Engidawork E., Lubec G. Molecular changes in fetal Down syndrome brain. Journal of Neurochemistry 2003, 84:895-904.
43. Esbensen A.J. Health conditions associated with aging and end of life of adults with Down syndrome. International Review of Research in Mental Retardation 2010, 39:107-126.
44. Ferlazzo E., Adjien C.K., Guerrini R., Calarese T., Crespel A., Elia M., et al. Lennox-Gastaut syndrome with late-onset and prominent reflex seizures in trisomy 21 patients. Epilepsia 2009, 50:1587-1595.
45. Ferris S.H. Evaluation of memantine for the treatment of Alzheimer's disease. Expert Opinion on Pharmacotherapy 2003, 4:2305-2313.
46. Fidler D.J., Most D.E., Guiberson M.M. Neuropsychological correlates of word identification in Down syndrome. Research in Developmental Disabilities 2005, 26:487-501.
47. Frautschy S.A., Cole G.M. Why pleiotropic interventions are needed for Alzheimer's disease. Molecular Neurobiology 2010, 41:392-409.
48. Galli M., Cimolin V., Patti P., Ferrario D., Heaney G., Albertini G., et al. Quantifying established clinical assessment measures using 3D-movement analysis in individuals with Down syndrome. Disability and Rehabilitation 2010, 32:1768-1774.
49. Gates G.A., Gibbons L.E., McCurry S.M., Crane P.K., Feeney M.P., Larson E.B. Executive dysfunction and presbycusis in older persons with and without memory loss and dementia. Cognitive and Behavioral Neurology 2010, 23:218-223.
50. Glenn S., Dayus B., Cunningham C., Horgan M. Mastery motivation in children with Down syndrome. Down's Syndrome, Research and Practice 2001, 7:52-59.
51. Gonzalez-Aguero A., Vicente-Rodriguez G., Moreno L.A., Guerra-Balic M., Ara I., Casajus J.A. Health-related physical fitness in children and adolescents with Down syndrome and response to training. Scandinavian Journal of Medicine & Science in Sports 2010, 20:716-724.
52. Guedj F., Sebrie C., Rivals I., Ledru A., Paly E., Bizot J.C., et al. Green tea polyphenols rescue of brain defects induced by overexpression of DYRK1A. PLoS One 2009, 4:e4606.
53. Guidi S., Bonasoni P., Ceccarelli C., Santini D., Gualtieri F., Ciani E., et al. Neurogenesis impairment and increased cell death reduce total neuron number in the hippocampal region of fetuses with Down syndrome. Brain Pathology 2008, 18:180-197.
54. Guidi S., Ciani E., Bonasoni P., Santini D., Bartesaghi R. Widespread proliferation impairment and hypocellularity in the cerebellum of fetuses with Down syndrome. Brain Pathology 2011, 21:361-373.
55. Guihard-Costa A.M., Khung S., Delbecque K., Menez F., Delezoide A.L. Biometry of face and brain in fetuses with trisomy 21. Pediatric Research 2006, 59:33-38.
56. Haier R.J., Alkire M.T., White N.S., Uncapher M.R., Head E., Lott I.T., et al. Temporal cortex hypermetabolism in Down syndrome prior to the onset of dementia. Neurology 2003, 61:1673-1679.
57. Hawli Y., Nasrallah M., El-Hajj Fuleihan G. Endocrine and musculoskeletal abnormalities in patients with Down syndrome. Nature Reviews Endocrinology 2009, 5:327-334.
58. Head E., Doran E., Nistor M., Hill M., Schmitt F.A., Haier R.J., et al. Plasma amyloid-beta as a function of age, level of intellectual disability, and presence of dementia in Down syndrome. Journal of Alzheimer's Disease 2011, 23:399-409.
59. Head E., Lott I.T. Down syndrome and beta-amyloid deposition. Current Opinion in Neurology 2004, 17:95-100.
60. Head E., Lott I.T., Cribbs D.H., Cotman C.W., Rohn T.T. Beta-amyloid deposition and neurofibrillary tangle association with caspase activation in Down syndrome. Neuroscience Letters 2002, 330:99-103.
61. Head E., Lott I.T., Patterson D., Doran E., Haier R.J. Possible compensatory events in adult Down syndrome brain prior to the development of Alzheimer disease neuropathology: Targets for nonpharmacological intervention. Journal of Alzheimer's Disease 2007, 11:61-76.
62. Holtzman D.M., Santucci D., Kilbridge J., Chua-Couzens J., Fontana D.J., Daniels S.E., et al. Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome. Proceedings of the National Academy of Sciences of the United States of America 1996, 93:13333-13338.
63. Infantino V., Castegna A., Iacobazzi F., Spera I., Scala I., Andria G., et al. Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome. Molecular Genetics and Metabolism 2011, 102:378-382.
64. Jackson M.L., Howard M.E., Barnes M. Cognition and daytime functioning in sleep-related breathing disorders. Progress in Brain Research 2011, 190:53-68.
65. Jahromi L.B., Gulsrud A., Kasari C. Emotional competence in children with Down syndrome: Negativity and regulation. American Journal of Mental Retardation 2008, 113:32-43.
66. Ji L., Chauhan V., Mehta P., Wegiel J., Mehta S., Chauhan A. Relationship between proteolytically cleaved gelsolin and levels of amyloid-beta protein in the brains of Down syndrome subjects. Journal of Alzheimer's Disease 2010, 22:609-617.
67. Jones E.L., Hanney M., Francis P.T., Ballard C.G. Amyloid beta concentrations in older people with Down syndrome and dementia. Neuroscience Letters 2009, 451:162-164.
68. Jover M., Ayoun C., Berton C., Carlier M. Specific grasp characteristics of children with trisomy 21. Developmental Psychobiology 2010, 52:782-793.
69. Kasari C., Freeman S.F. Task-related social behavior in children with Down syndrome. American Journal of Mental Retardation 2001, 106:253-264.
70. Kemper T.L. Down syndrome. Cerebral cortex 1991, Plenum Press Kluwer Academic. A. Peters, E.J. Jones (Eds.).
71. Kesslak J.P., Nagata S.F., Lott I., Nalcioglu O. Magnetic resonance imaging analysis of age-related changes in the brains of individuals with Down's syndrome. Neurology 1994, 44:1039-1045.
72. Kim S.J., Lee J.H., Lee D.Y., Jhoo J.H., Woo J.I. Neurocognitive dysfunction associated with sleep quality and sleep apnea in patients with mild cognitive impairment. The American Journal of Geriatric Psychiatry 2011, 19:374-381.
73. Kishnani P.S., Heller J.H., Spiridigliozzi G.A., Lott I., Escobar L., Richardson S., et al. Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17. American Journal of Medical Genetics. Part A 2010, 152A:3028-3035.
74. Kramer C.K., von Muhlen D., Kritz-Silverstein D., Barrett-Connor E. Treated hypothyroidism, cognitive function, and depressed mood in old age: The Rancho Bernardo study. European Journal of Endocrinology 2009, 161:917-921.
75. Kusters M.A., Verstegen R.H., Gemen E.F., de Vries E. Intrinsic defect of the immune system in children with Down syndrome: A review. Clinical and Experimental Immunology 2009, 156:189-193.
76. Landt J., D'Abrera J.C., Holland A.J., Aigbirhio F.I., Fryer T.D., Canales R., et al. Using positron emission tomography and Carbon 11-labeled Pittsburgh Compound B to image Brain Fibrillar beta-amyloid in adults with Down syndrome: Safety, acceptability, and feasibility. Archives of Neurology 2011, 68:890-896.
77. Leventer R.J., Guerrini R., Dobyns W.B. Malformations of cortical development and epilepsy. Dialogues in Clinical Neuroscience 2008, 10:47-62.
78. Leverenz J.B., Raskind M.A. Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: A regional quantitative analysis. Experimental Neurology 1998, 150:296-304.
79. Lewis J.D., Elman J.L. Growth-related neural reorganization and the autism phenotype: A test of the hypothesis that altered brain growth leads to altered connectivity. Developmental Science 2008, 11:135-155.
80. Lin F.R., Ferrucci L., Metter E.J., An Y., Zonderman A.B., Resnick S.M. Hearing loss and cognition in the Baltimore Longitudinal Study of Aging. Neuropsychology 2011, 25:763-770.
81. Littbrand H., Stenvall M., Rosendahl E. Applicability and effects of physical exercise on physical and cognitive functions and activities of daily living among people with dementia: A systematic review. American Journal of Physical Medicine & Rehabilitation 2011, 90:495-518.
82. Lloret A., Badia M.C., Giraldo E., Ermak G., Alonso M.D., Pallardo F.V., et al. Amyloid-beta toxicity and tau hyperphosphorylation are linked via RCAN1 in Alzheimer's disease. Journal of Alzheimer's Disease 2011, 27:701-709.
83. Lockstone H.E., Harris L.W., Swatton J.E., Wayland M.T., Holland A.J., Bahn S. Gene expression profiling in the adult Down syndrome brain. Genomics 2007, 90:647-660.
84. Lott I.T., Dierssen M. Cognitive deficits and associated neurological complications in individuals with Down's syndrome. Lancet Neurology 2010, 9:623-633.
85. Lott I., Doran E., Nguyen V.Q., Tournay A., Movsesyan N., Gillen D.L. Down syndrome and dementia: Seizures and cognitive decline. Journal of Alzheimer's Disease 2011, [Epub ahead of print].
86. Lowenthal R., Paula C.S., Schwartzman J.S., Brunoni D., Mercadante M.T. Prevalence of pervasive developmental disorder in Down's syndrome. Journal of Autism and Developmental Disorders 2007, 37:1394-1395.
87. Lu J., Esposito G., Scuderi C., Steardo L., Delli-Bovi L.C., Hecht J.L., et al. S100B and APP promote a gliocentric shift and impaired neurogenesis in Down syndrome neural progenitors. PLoS One 2011, 6:e22126.
88. Lujic L., Bosnjak V.M., Delin S., Duranovic V., Krakar G. Infantile spasms in children with Down syndrome. Collegium Antropologicum 2011, 35(Suppl. 1):213-218.
89. Mann D.M., Esiri M.M. The pattern of acquisition of plaques and tangles in the brains of patients under 50 years of age with Down's syndrome. Journal of Neurological Sciences 1989, 89:169-179.
90. Martin L.J. DNA damage and repair: Relevance to mechanisms of neurodegeneration. Journal of Neuropathology and Experimental Neurology 2008, 67:377-387.
91. Marvanova M., Lakso M., Pirhonen J., Nawa H., Wong G., Castren E. The neuroprotective agent memantine induces brain-derived neurotrophic factor and trkB receptor expression in rat brain. Molecular and Cellular Neurosciences 2001, 18:247-258.
92. Megarbane A., Ravel A., Mircher C., Sturtz F., Grattau Y., Rethore M.O., et al. The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome. Genetics in Medicine 2009, 11:611-616.
93. Melendres M.C., Lutz J.M., Rubin E.D., Marcus C.L. Daytime sleepiness and hyperactivity in children with suspected sleep-disordered breathing. Pediatrics 2004, 114:768-775.
94. Melyn M.A., White D.T. Mental and developmental milestones of noninstitutionalized Down's syndrome children. Pediatrics 1973, 52:542-545.
95. Menendez M. Down syndrome, Alzheimer's disease and seizures. Brain & Development 2005, 27:246-252.
96. Merrick J., Ezra E., Josef B., Hendel D., Steinberg D.M., Wientroub S. Musculoskeletal problems in Down Syndrome European Paediatric Orthopaedic Society Survey: The Israeli sample. Journal of Pediatric Orthopaedics. Part B 2000, 9:185-192.
97. Mittwoch U., Wilkie D. The effect of chlorimipramine on DNA synthesis and mitosis in cultured human cells. British Journal of Experimental Pathology 1971, 52:186-191.
98. Mohan M., Bennett C., Carpenter P.K. Galantamine for dementia in people with Down syndrome. Cochrane Database of Systematic Reviews 2009, CD007656.
99. Mohan M., Bennett C., Carpenter P.K. Memantine for dementia in people with Down syndrome. Cochrane Database of Systematic Reviews 2009, CD007657.
100. Mohan M., Bennett C., Carpenter P.K. Rivastigmine for dementia in people with Down syndrome. Cochrane Database of Systematic Reviews 2009, CD007658.
101. Mohan M., Carpenter P.K., Bennett C. Donepezil for dementia in people with Down syndrome. Cochrane Database of Systematic Reviews 2009, CD007178.
102. Mori C., Spooner E.T., Wisniewsk K.E., Wisniewski T.M., Yamaguch H., Saido T.C., et al. Intraneuronal Abeta42 accumulation in Down syndrome brain. Amyloid 2002, 9:88-102.
103. Nelson L.D., Siddarth P., Kepe V., Scheibel K.E., Huang S.C., Barrio J.R., et al. Positron emission tomography of brain beta-amyloid and tau levels in adults with Down syndrome. Archives of Neurology 2011, 68:768-774.
104. Noebels J. A perfect storm: Converging paths of epilepsy and Alzheimer's dementia intersect in the hippocampal formation. Epilepsia 2011, 52:39-46.
105. Patel A., Rees S.D., Kelly M.A., Bain S.C., Barnett A.H., Thalitaya D., et al. Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome. Neuroscience Letters 2011, 487:144-148.
106. Patterson D. Molecular genetic analysis of Down syndrome. Human Genetics 2009, 126:195-214.
107. Pinter J.D., Brown W.E., Eliez S., Schmitt J.E., Capone G.T., Reiss A.L. Amygdala and hippocampal volumes in children with Down syndrome: A high-resolution MRI study. Neurology 2001, 56:972-974.
108. Pinter J.D., Eliez S., Schmitt J.E., Capone G.T., Reiss A.L. Neuroanatomy of Down's syndrome: A high-resolution MRI study. The American Journal of Psychiatry 2001, 158:1659-1665.
109. Popova G., Paterson W.F., Brown A., Donaldson M.D. Hashimoto's thyroiditis in Down's syndrome: Clinical presentation and evolution. Hormone Research 2008, 70:278-284.
110. Pritchard M.A., Kola I. The "gene dosage effect" hypothesis versus the "amplified developmental instability" hypothesis in Down syndrome. Journal of Neural Transmission. Supplementum 1999, 57:293-303.
111. Pueschel S.M., Louis S., McKnight P. Seizure disorders in Down syndrome. Archives of Neurology 1991, 48:318-320.
112. Rammes G., Rupprecht R., Ferrari U., Zieglgansberger W., Parsons C.G. The N-methyl-D-aspartate receptor channel blockers memantine, MRZ 2/579 and other amino-alkyl-cyclohexanes antagonise 5-HT(3) receptor currents in cultured HEK-293 and N1E-115 cell systems in a non-competitive manner. Neuroscience Letters 2001, 306:81-84.
113. Raz N., Torres I.J., Briggs S.D., Spencer W.D., Thornton A.E., Loken W.J., et al. Selective neuroanatomic abnormalities in Down's syndrome and their cognitive correlates: Evidence from MRI morphometry. Neurology 1995, 45:356-366.
114. Ricketts J. Research review: Reading comprehension in developmental disorders of language and communication. Journal of Child Psychology and Psychiatry 2011, 52:1111-1123.
115. Rigoldi C., Galli M., Mainardi L., Crivellini M., Albertini G. Postural control in children, teenagers and adults with Down syndrome. Research in Developmental Disabilities 2011, 32:170-175.
116. Rondal J.A., Elbouz M., Ylieff M., Docquier L. Francoise, a fifteen-year follow up. Down's Syndrome, Research and Practice 2003, 8:89-99.
117. Rueda N., Florez J., Martinez-Cue C. Effects of chronic administration of SGS-111 during adulthood and during the pre- and post-natal periods on the cognitive deficits of Ts65Dn mice, a model of Down syndrome. Behavioural Brain Research 2008, 188:355-367.
118. Rumble B., Retallack R., Hilbich C., Simms G., Multhaup G., Martins R., et al. Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease. The New England Journal of Medicine 1989, 320:1446-1452.
119. Rusted J., Graupner L., O'Connell N., Nicholls C. Does nicotine improve cognitive function?. Psychopharmacology 1994, 115:547-549.
120. Ryoo S.R., Jeong H.K., Radnaabazar C., Yoo J.J., Cho H.J., Lee H.W., et al. DYRK1A-mediated hyperphosphorylation of Tau. A functional link between Down syndrome and Alzheimer disease. The Journal of Biological Chemistry 2007, 282:34850-34857.
121. Salehi A., Delcroix J.D., Belichenko P.V., Zhan K., Wu C., Valletta J.S., et al. Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration. Neuron 2006, 51:29-42.
122. Salehi A., Faizi M., Belichenko P.V., Mobley W.C. Using mouse models to explore genotype-phenotype relationship in Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews 2007, 13:207-214.
123. Schmahmann J.D. Disorders of the cerebellum: Ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. The Journal of Neuropsychiatry and Clinical Neurosciences 2004, 16:367-378.
124. Schmidt-Sidor B., Wisniewski K.E., Shepard T.H., Sersen E.A. Brain growth in Down syndrome subjects 15 to 22 weeks of gestational age and birth to 60 months. Clinical Neuropathology 1990, 9:181-190.
125. Schupf N., Zigman W.B., Tang M.X., Pang D., Mayeux R., Mehta P., et al. Change in plasma Aß peptides and onset of dementia in adults with Down syndrome. Neurology 2010, 75:1639-1644.
126. Shields N., Taylor N.F. A student-led progressive resistance training program increases lower limb muscle strength in adolescents with Down syndrome: A randomised controlled trial. Journal of Physiotherapy 2010, 56:187-193.
127. Shott S.R., Amin R., Chini B., Heubi C., Hotze S., Akers R. Obstructive sleep apnea: Should all children with Down syndrome be tested?. Archives of Otolaryngology-Head & Neck Surgery 2006, 132:432-436.
128. Simms M.L., Kemper T.L., Timbie C.M., Bauman M.L., Blatt G.J. The anterior cingulate cortex in autism: Heterogeneity of qualitative and quantitative cytoarchitectonic features suggests possible subgroups. Acta Neuropathologica 2009, 118:673-684.
129. Sisodiya S.M., Fauser S., Cross J.H., Thom M. Focal cortical dysplasia type II: Biological features and clinical perspectives. Lancet Neurology 2009, 8:830-843.
130. Smigielska-Kuzia J., Sobaniec W., Kulak W., Bockowski L. Clinical and EEG features of epilepsy in children and adolescents in Down syndrome. Journal of Child Neurology 2009, 24:416-420.
131. Sokol D.K., Maloney B., Long J.M., Ray B., Lahiri D.K. Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular links. Neurology 2011, 76:1344-1352.
132. Stores R., Stores G., Fellows B., Buckley S. Daytime behaviour problems and maternal stress in children with Down's syndrome, their siblings, and non-intellectually disabled and other intellectually disabled peers. Journal of Intellectual Disability Research 1998, 42(Pt. 3):228-237.
133. Strick P.L., Dum R.P., Fiez J.A. Cerebellum and nonmotor function. Annual Review of Neuroscience 2009, 32:413-434.
134. Strydom A., Dickinson M.J., Shende S., Pratico D., Walker Z. Oxidative stress and cognitive ability in adults with Down syndrome. Progress in Neuro-Psychopharmacology & Biological Psychiatry 2009, 33:76-80.
135. Teipel S.J., Alexander G.E., Schapiro M.B., Moller H.J., Rapoport S.I., Hampel H. Age-related cortical grey matter reductions in non-demented Down's syndrome adults determined by MRI with voxel-based morphometry. Brain 2004, 127:811-824.
136. Teipel S.J., Schapiro M.B., Alexander G.E., Krasuski J.S., Horwitz B., Hoehne C., et al. Relation of corpus callosum and hippocampal size to age in nondemented adults with Down's syndrome. The American Journal of Psychiatry 2003, 160:1870-1878.
137. Tejedor F.H., Hammerle B. MNB/DRYK1A as a multiple regulator of neuronal development. FEBS 2011, 278(2):225-235.
138. Toiber D., Azkona G., Ben-Ari S., Toran N., Soreq H., Dierssen M. Engineering DYRK1A overdosage yields Down syndrome-characteristic cortical splicing aberrations. Neurobiology of Disease 2010, 40:348-359.
139. Torelli F., Moscufo N., Garreffa G., Placidi F., Romigi A., Zannino S., et al. Cognitive profile and brain morphological changes in obstructive sleep apnea. NeuroImage 2011, 54:787-793.
140. Tsao R., Kindelberger C. Variability of cognitive development in children with Down syndrome: Relevance of good reasons for using the cluster procedure. Research in Developmental Disabilities 2009, 30:426-432.
141. Uberos J., Romero J., Molina-Carballo A., Munoz-Hoyos A. Melatonin and elimination of kynurenines in children with Down's syndrome. Journal of Pediatric Endocrinology & Metabolism 2010, 23:277-282.
142. Valenti D., Manente G.A., Moro L., Marra E., Vacca R.A. Deficit of complex I activity in human skin fibroblasts with chromosome 21 trisomy and overproduction of reactive oxygen species by mitochondria: Involvement of the cAMP/PKA signalling pathway. The Biochemical Journal 2011, 435:679-688.
143. van Allen M.I., Fung J., Jurenka S.B. Health care concerns and guidelines for adults with Down syndrome. American Journal of Medical Genetics 1999, 89:100-110.
144. van Reekum R., Black S.E., Conn D., Clarke D. Cognition-enhancing drugs in dementia: A guide to the near future. Canadian Journal of Psychiatry 1997, 42(Suppl. 1):35S-50S.
145. Vasudevaraju P., Bharathi, Garruto R.M., Sambamurti K., Rao K.S. Role of DNA dynamics in Alzheimer's disease. Brain Research Reviews 2008, 58:136-148.
146. Vignoli A., Zambrelli E., Chiesa V., Savini M., la Briola F., Gardella E., et al. Epilepsy in adult patients with Down syndrome: A clinical-video EEG study. Epileptic Disorders 2011, 13:125-132.
147. Vincent A., Crino P.B. Systemic and neurologic autoimmune disorders associated with seizures or epilepsy. Epilepsia 2011, 52(Suppl. 3):12-17.
148. Virji-Babul N., Eichmann A., Kisly D., Down J., Haslam R.H. Use of health care guidelines in patients with Down syndrome by family physicians across Canada. Paediatrics & Child Health 2007, 12:179-183.
149. Walker J.C., Dosen A., Buitelaar J.K., Janzing J.G. Depression in Down syndrome: A review of the literature. Research in Developmental Disabilities 2011, 32:1432-1440.
150. Wallace T.L., Ballard T.M., Pouzet B., Riedel W.J., Wettstein J.G. Drug targets for cognitive enhancement in neuropsychiatric disorders. Pharmacology, Biochemistry, and Behavior 2011, 99:130-145.
151. Westmark C.J., Westmark P.R., Malter J.S. MPEP reduces seizure severity in Fmr-1 KO mice over expressing human Abeta. International Journal of Clinical and Experimental Pathology 2009, 3:56-68.
152. Westmark C.J., Westmark P.R., Malter J.S. Alzheimer's disease and Down syndrome rodent models exhibit audiogenic seizures. Journal of Alzheimer's Disease 2010, 20:1009-1013.
153. White N.S., Alkire M.T. Impaired thalamocortical connectivity in humans during general-anesthetic-induced unconsciousness. NeuroImage 2003, 19:402-411.
154. White K.G., Ruske A.C. Memory deficits in Alzheimer's disease: The encoding hypothesis and cholinergic function. Psychonomic Bulletin and Review 2002, 9:426-437.
155. Wishart J.G. The development of learning difficulties in children with Down's syndrome. Journal of Intellectual Disability Research 1993, 37(Pt. 4):389-403.
156. Wishart J.G., Manning G. Trainee teachers' attitudes to inclusive education for children with Down's syndrome. Journal of Intellectual Disability Research 1996, 40(Pt. 1):56-65.
157. Wisniewski K.E. Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis. American Journal of Medical Genetics. Supplement 1990, 7:274-281.
158. Wisniewski K.E., Wisniewski H.M., Wen G.Y. Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Annals of Neurology 1985, 17:278-282.
159. Zigman W.B., Lott I.T. Alzheimer's disease in Down syndrome: Neurobiology and risk. Mental Retardation and Developmental Disabilities Research Reviews 2007, 13:237-246.