Down Syndrome: Genetic Insights and Thoughts on Early Intervention

Infants and Young Children

Volumn 17, Issue 1, 2004, Pages 45-58

  Capone, George T ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Brain development; Chromosome 21; Down syndrome; Early intervention; Gene expression; Intelligence; Language; Neurobiology

Indexed keywords

AMYLOID; CHOLINESTERASE INHIBITOR; DONEPEZIL; NEUROTROPIN;

AGE DISTRIBUTION; BEHAVIOR DISORDER; BRAIN CORTEX; BRAIN FUNCTION; BRAIN MATURATION; CHILD; CHILD DEVELOPMENT; COGNITIVE DEFECT; DOWN SYNDROME; DRUG EFFECT; FAMILY HEALTH; GENETIC ASSOCIATION; HEALTH EDUCATION; HEALTH PROGRAM; HUMAN; NEUROBIOLOGY; NEUROPROTECTION; NEUROPSYCHOLOGY; NUTRITION; PHARMACOLOGY; REVIEW;

EID: 1642555610     PISSN: 08963746     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001163-200401000-00007     Document Type: Review

References (107)

1. Becker, L. E., Armstrong, D. L., & Chan, F. (1986). Dendritic atrophy in children with Down's syndrome. Annals of Neurology, 20, 520-526.
2. Boomsma, D., van Baal, G., & Caroline, M. (1998). Genetic influences on childhood IQ in 5-and 7-year-old Dutch twins. Developmental Neuropsychology, 14, 115-126.
3. Bouchard, T., Lykken, D., McGue, M., Seagle, N., & Tellegen, A. (1990). Sources of human psychological differences: The Minnesota study of twins reared apart. Science, 250, 223-250.
4. Brown, F., Greer, M., Aylward, E., & Hunt, H. (1990). Intellectual and adaptive function in individuals with Down syndrome in relation to age and environmental placement. Pediatrics, 85, 450-452.
5. Bruni, M. (1998). Fine motor skills for children with Down syndrome. Bethesda, MD: Woodbine House.
6. Buckley, S. (1995). Teaching children with Down syndrome to read and write. In L. Nadel & D. Rosenthal (Eds.). Down syndrome: Living and learning in the community (pp. 158-169). New York: Wiley-Liss.
7. Capone, G. (1996). Human brain development. In: A. Capute & P. Accardo (Eds.) in, Developmental disabilities in infancy and childhood (pp. 25-75). Baltimore: Paul H. Brookes.
8. Capone, G. (1998). Drugs that increase intelligence?: Application for childhood cognitive impairment. Mental Retardation and Developmental Disabilities Research Reviews, 4(1), 36-49.
9. Capone, G. (2001). Down syndrome: Advances in molecular biology and the neurosciences. Developmental and Behavioral Pediatrics, 22(1), 40-59.
10. Capone, G. (2002). Down syndrome and autistic spectrum disorders. In W. Cohen & M. Madnick (Eds.), Down syndrome: Visions of the 21st century. New York: John Wiley & Sons Inc.
11. Carr, J. (1988). Six weeks to twenty-one years old: A longitudinal study of children with Down's syndrome and their families. Journal of Child Psychology and Psychiatry, 29(4), 407-431.
12. Chapman, R. (1997). Language development in children and adolescents with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 3, 307-312.
13. Connolly, B., Morgan, S., & Russell, F. (1984). Evaluation of children with Down syndrome who participated in an early intervention program. Physical Therapy, 64, 1515-1518.
14. Connolly, B., Morgan, S., & Russell, F. (1993). A longitudinal study of children with Down syndrome who participated in an early intervention program. Physical Therapy, 73, 107-181.
15. Cooper, J., Salehi, A., Delcroix, J., Howe, P., Belichenko, J., Chua-Couzens, J., et al. (2001). Failed retrograde transport of NGF in mouse model of Down's syndrome: Reversal of cholinergic neurodegeneration phenotypes following NGF infusion. Proceedings of the National Academy of Science, 98(18), 10439-10444.
16. Coyle, J., Oster-Granite, M., & Gearhart, J. (1986). The neurobiologie consequences of Down syndrome. Brain Research Bulletin, 16, 773-787.
17. Crome, L., Cowie, V., & Slater, E. (1966). A statistical note on cerebellar and brain-stem weight in mongolism. Journal of Mental Deficiency Research, 10, 69-72.
18. Cummings, J. (2000). Cholinesterase inhibitors: A new class of psychotropic compounds. American Journal of Psychiatry, 757(1), 4-15.
19. Davisson, M., Schmidt, C., Reeves, R., Irving, N., Akeson, E., Harris, B., et al. (1993). Segmental trisomy as a mouse model for Down syndrome. In C. Epstein (Ed.) The phenotypic mapping of Down syndrome and other aneuploid conditions (pp. 117-133). New York: Wiley-Liss.
20. Devlin, B., Daniels, M., & Roeder, K. (1997). The heritability of IQ. Nature, 388, 468-471.
21. Elliott, D., & Weeks, D. J. (1993). Cerebral specialization for speech perception and movement organization in adults with Down's syndrome. Cortex, 29, 103-113.
22. Elliott, D., Weeks, D. J., & Gray, S. (1990). Manual and oral praxis in adults with Down's syndrome. Neuropsychologia, 28(12), 1307-1315.
23. Epstein, C. J. (1990). The consequences of chromosome imbalance. American Journal of Medical Genetic, 7, 31-37.
24. Fishler, K., & Koch, R. (1991). Mental development in Down syndrome mosaicism. American Journal of Mental Retardation, 96(3), 345-351.
25. Ghaziuddin, M., Tsai, L., & Ghaziuddin, N. (1992). Autism in Down's syndrome: Presentation and diagnosis. Journal of Intellectual Disability Research, 36, 449-456.
26. Gibson, D. (1991). Down syndrome and cognitive enhancement: Not like the others. In K. Marfo (Ed.), Early intervention in transition: Current perspectives on programs for handicapped children (pp. 61-90). New York: Praeger.
27. Gibson, D., & Harris, A. (1988). Aggregated early intervention effects for Down's syndrome persons: Patterning and longevity of benefits. Journal of Mental Deficiency Research, 32, 1-17.
28. Golden, J., & Hyman, B. (1994). Development of the superior temporal neocortex is anomalous in trisomy 21. Journal of Neuropathology and Experimental Neurology, 53(5), 513-520.
29. Hardy, J. (1997). Amyloid, the presenilins and Alzheimer's disease. Trends in Neuroscience, 20, 154-159.
30. Hartley, X. (1981). Lateralisation of speech stimuli in young Down's syndrome children. Cortex, 17, 241-248.
31. Harum, K., & Johnston, M. (1998). Developmental neurobiology: New concepts in learning, memory, and neuronal development. Mental Retardation and Developmental Disabilities Research Reviews, 4(1), 20-25.
32. Hattori, M., Fujiyama, A., Taylor, T., Watanabe, H., Yada, T., & Park, H.-S. (2000). The DNA sequence of human chromosome 21. Nature, 405, 311-319.
33. Heath, M., & Elliott, D. (1999). Cerebral specialization for speech production in persons with Down syndrome. Brain and Language, 69, 193-211.
34. Hines, S., & Bennett, F. (1996). Effectiveness of early intervention for children with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 2(2), 96-101.
35. Holtzman, D., Li, Y., Chen, P., Gage, F., Epstein, E., & Mobley, W. (1993). Nerve Growth Factor reverses neuronal atrophy in a Down syndrome model of age-related neurodegeneration. Neurology, 43, 2668-2673.
36. Huttenlocher, P. R. (1991). Dendritic and synaptic pathology in mental retardation. Pediatric Neurology, 7, 79-85.
37. Jernigan, T., & Bellugi, U. (1990). Anomalous brain morphology on magnetic resonance images in Williams syndrome and Downs syndrome. Archives of Neurology, 47, 529-533.
38. Jernigan, T., Bellugi, U., Sowell, E., Doherty, S., & Hesselink, J. (1993). Cerebral morphologic distictions between Willams and Down syndromes. Archives of Neurology, 50, 186-191.
39. Katz, L., & Shatz, C. (1996). Synaptic activity and the construction of cortical circuits. Science, 274, 1133-1138.
40. Kishnani, P., Sullivan, J., Walter, B., Spiridigliozzi, G., Doraiswamy, P., & Krishnan, K. (1999). Cholinergic therapy for Down's syndrome. The Lancet, 353, 1064-1065.
41. Kumin, L. (1994). Communication skills in children with Down syndrome. Bethesda, MD: Woodbine House.
42. Kumin, L., & Adams, J. (2000). Developmental apraxia of speech and intelligibility in children with Down syndrome. Down Syndrome Quarterly, 5(3), 1-7.
43. Kumin, L., Goodman, M., & Councill, C. (1996). Comprehensive speech and language intervention for school-aged children with Down syndrome. Down Syndrome Quarterly, 1(1), 1-8.
44. LaVeck, B., & Brehm, S. (1978). Individual variability among children with Down syndrome. Mental Retardation, 2, 135-137.
45. Ludlow, J., & Allen, L. (1979). The effect of early intervention and preschool stimulus on the development of Down syndrome children. Journal of Mental Deficiency Research, 23, 29.
46. Malther, J. (2001). Regulation of mRNA stability in the nervous system and beyond. Journal of Neuroscience Research, 66, 311-316.
47. Marcell, M. M., & Armstrong, V. (1982). Auditory and visual sequential memory of Down syndrome and non-retarded children. American Journal of Mental Deficiency, 87(1), 86-95.
48. Marin-Padilla, M. (1972). Structural abnormalities of the cerebral cortex in human chromosomal aberrations: A golgi study. Brain Research, 44, 625-629.
49. Marin-Padilla, M. (1976). Pyramidal cell abnormalities in the motor cortex of a child with Downs syndrome. Journal of Comparative Neurology, 167, 63-82.
50. Martin, J. (1993). Molecular genetics in neurology. Annals of Neurology, 34, 757-773.
51. Marx, J. (1996). Searching for drugs that combat Alzheimer's. Science, 273, 50-53.
52. McCracken, J., McGough, J., Shah, B., & f. t. R. U. o. P. P. A. Network. (2002). Resperidone in children with autism and serious behavioral problems. New England Journal of Medicine, 347, 314-321.
53. Meldrum, B. (1998). The glutamate synapse as a therapuetic target: Perspectives for the future. Progress in Brain Research, 116, 441-458.
54. Miezejeski, C. M., Heaney, G., Belser, R., & Sersen, E. A. (1994). Aberrant lateralization of brainstem auditory evoked responses by individuals with Down syndrome. American Journal on Mental Retardation, 98(4), 481-489.
55. Miller, J., Leddy, M., & Leavitt, L. (1999). Improving the communication of people with Down syndrome. Baltimore: Paul Brookes.
56. Miller, J. F. (1988). The developmental asynchrony of language development in children with Down syndrome. In L. Nadel (Ed.), The psychobiology of Down syndrome. Cambridge: The MIT Press.
57. National Center for Biotechnology Information. (2002). Chromosome 21 human genome map. Bethesda, MD: NCBI.
58. O'Brien, G., & Yule, W. (1995). Behavioral phenotypes. Clinics in developmental medicine. Vol. 138. London: Cambridge University Press.
59. Oelwein, P. (1995). Teaching reading to children with Down syndrome. Bethesda, MD: Woodbine House.
60. Online Mendelian Inheritance in Man (OMIM). (2002). Baltimore, MD: Center for Medical Genetics, Johns Hopkins University and Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine.
61. Pal, S., Shyam, R., & Singh, R. (1997). Genetic analysis of general intelligence 'g ' : A twin study. Personality and Individual Differences, 22, 779-780.
62. Palmer, C., Cronk, C., Pueschel, S., Wisniewski, K., Laxova, R., Crocker, A., et al. (1992). Head circumference of children with Down syndrome (0-36 months). American Journal of Medical Genetics, 42, 61-67.
63. Pennisi, E. (1999). Enzymes point the way to potential Alzheimer's therapies. Science, 286, 650-651.
64. Pinter, J., Eliez, S., Schmitt, E., Capone, G., & Reiss, A. (2001). Neuroanatomy of Down's syndrome: A high-resolution MRI study. American Journal of Psychiatry, 158(10), 1659-1665.
65. Piper, M. C., & Pless, I. B. (1980). Early intervention for infants with Down syndrome: A controlled trial. Pediatrics, 65(3), 463-468.
66. Pollack, M. A., Golden, G. S., Schmidt, R., Davis, J. A., & Leeds, N. (1978). Infantile spasms in Down syndrome: A report of 5 cases and review of the literature. Annals of Neurology, 3, 406-408.
67. Pulsifer, M. (1996). The neuropsychology of mental retardation. Journal of the International Psychological Society, 2, 159-176.
68. Reed, R. B., Pueschel, S. M., Schnell, R. R., & Cronk, C. E. (1984). Interrelationships of biological, environmental and competency variables. In S. M. Pueschel (Ed.). The young child with Down syndrome (pp. 285-297). New York: Human Sciences Press.
69. Reeves, R., Gearhart, J., & Littlefield, J. (1986). Genetic basis for a mouse model of Down syndrome. Brain Research Bulletin, 16, 803-814.
70. Rohr, A., & Burr, D. (1978). Etiologic differences in patterns of psycholiguistic development in children of IQ 30 to 60. American Journal of Mental Deficiency, 82, 549-543.
71. Rosenberg, R. (1997). Molecular neurogenetics: The genome is settling the issue. Journal of the American Medical Association, 278(15), 1282-1283.
72. Ross, M., Galaburda, A., & Kemper, T. (1984). Down's syndrome: Is there a decreased population of neurons? Neurology, 34, 909-916.
73. Rynders, J., Abery, B., Spiker, D., Olive, M., Sheran, C., & Zajac, R. (1997). Improving educational programming for individuals with Down syndrome: Engaging the fuller competence. Down Syndrome Quarterly, 2(1), 1-11.
74. Sano, M., Ernesto, C., Thomas, R., Klauber, M., Schafer, K., Grundman, M., et al. (1997). A controlled trial of selegiline, alpha-tocopherol, or both as treatment for Alzheimer's disease. New England Journal of Medicine, 336, 1216-1222.
75. Scarr, S., & Weinberg, R. (1983). The Minnesota adoption studies: Genetic differences and malleability. Child Development, 54, 260-267.
76. Schehr, R. (1994). Therapeutic approaches to Alzheimer's disease. Biotechnology, 12, 140-144.
77. Schenk, D., Barbour, R., Dunn, W., Gordon, G., Grajeda, J., & Guido, T. (1999). Immunization with amyloid-B attenuates Alzheimer-disease-like pathology in the PDAPP mouse. Nature, 400, 173-177.
78. Schmidt-Sidor, B., Wisniewski, K. E., Shepard, T. H., Sersen, E. A. (1990). Brain growth in Down syndrome subjects 15 to 22 weeks of gestational age and birth to 60 months. Clinical Neuropathology, 9(4), 181-190.
79. Schnell, R. (1984). Psychomotor development. In S. Pueschel (Ed.), The young child with Down syndrome (pp. 207-225). New York: Human Sciences Press.
80. Schrader, L., & Friedlander, M. (1999). Developmental regulation of synaptic mechanisms that contribute to learning and memory. Mental Retardation and Developmental Disabilites Research Reviews, 5(1), 60-71.
81. Share, J., Koch, R., Webb, A., Graliker, B. (1964). The longitudinal development of infants and young children with Down's syndrome (mongolism). American Journal of Mental Deficiency, 68, 685-692.
82. Sigman, M., & Ruskin, E. (1999). Continuity and change in the social competence of children with autism, Down syndrome and developmental delays. Monographs of the Society for Research in Child Development, 64(1), 1-113.
83. Singer, W. (1995). Development and plasticity of cortical processing architectures. Science, 270, 758-764.
84. Smith, D., Roberts, J., Gage, F., & Tuszynski, M. (1999). Age-associated neuronal atrophy occurs in the primate brain and is reversible by growth factor gene therapy. Proceedings of the National Academy of Science, 96(19), 10893-10898.
85. Sommers, R., & Starkey, K. (1977). Dichotic verbal processing in Down's syndrome children having qualitatively different speech and language skills. American Journal of Mental Deficiency, 82, 44-53.
86. Spiker, D., & Hopmann, M. (1997). The effectiveness of early intervention for children with Down syndrome. In M. Guralnick (Ed.), The effectiveness of early intervention, (pp. 271-305) Baltimore, MD: Paul H. Brookes.
87. Stafstrom, C., & Konkol, R. (1994). Infantile spasms in children with Down syndrome. Developmental Medicine and Child Neurology, 36, 576-585.
88. Stephanny, F., Freeman, N., & Hodnap, R. (2000). Educating children with Down syndrome: Linking behavioral characteristics to promising intervention strategies. Down Syndrome Quarterly, 5(1), 1-9.
89. Stewart, W., Kawas, C., Corrada, M., & Metter J. (1997). Risk of Alzheimer's disease and duration of NSAID use. Neurology, 48, 626-632.
90. Strominger, A., Winkler, M., & Cohen, L. (1984). Speech and language evaluation. In S. M. Peuschel (Ed.), The young child with Down syndrome (pp. 253-261). New York: Human Sciences Press.
91. Suetsugu, M., & Mehraein, P. (1980). Spine distribution along the apical dendrites of the pyramidal neurons in Down's syndrome. Acta Neuropathologica, 50, 207-210.
92. Takashima, S., Iida, K., Mito, T., & Arima, M. (1994). Dendritic and histochemical development and ageing in patients with Down syndrome. Journal of Intellectual Disability Research, 38, 265-273.
93. Tang, M., Jacobs, D., & Stern, Y. (1996). Effect of oesterogen during menopause on risk and age at onset of Alzheimer's disease. Lancet, 348, 429-432.
94. Thoenen, H. (1995). Neurotropins and neuronal plasticity. Science, 270, 593-598.
95. Thompson, P., Cannon, T., Narr, K., Erp, T. van, & Poutanen, V. (2001). Genetic influences on brain structure. Nature Neuroscience, 4(12), 1253-1258.
96. Varnhagen, C., Das, J., & Varnhagen, S. (1987). Auditory and visual memory span: Cognitive processing by TMR individuals with Down syndrome or other etiologies. American Journal of Mental Deficiency, 91, 398-405.
97. Wang, P., Koherty, S., Hesselink, J., & Bellugi, U. (1992). Callosal morphology concurs with neurobehavioral and neuropathological findings in two neurodevelopmental disorders. Archives of Neurology, 49, 407-411.
98. 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(2), 317-322.
99. Weeks, D. J., & Elliott, D. (1992). Atypical cerebral dominance in Down's syndrome. Bulletin of the Psychonomic Society, 30(1), 23-25.
100. Weis, S., Weber, G., Neuhold, A., & Rhett, A. (1991). Down syndrome: MR quantification of brain structures and comparion with normal control subjects. American Journal of Neuroradiology, 12, 1207-1211.
101. Winders, P. (1997). Gross motor skills in children with Down syndrome. Bethesda, MD: Woodbine House.
102. Winders, P. (2001). The goal and opportunity of physical therapy for children with Down syndrome. Down Syndrome Quarterly, 6(2), 1-5.
103. Wisniewski, K. (1990). Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis. American Journal of Medical Genetics, 7(suppl), 274-281.
104. Wisniewski, K., Miezejeski, C., & Hill, A. (1988). Neurological and psychological status of individuals with Down syndrome. In L. Nadel (Ed.). Thepsychobiology of Down syndrome (pp. 315-343). Cambridge: MIT Press.
105. Wisniewski, K. E., Laure-Kamionowska, M., Connell, F., & Wen, G. Y. (1986). Neuronal density and synaptogenesis in the postnatal stage of brain maturation in Down syndrome. In C. J. Epstein (Ed.), The neurobiology of Down syndrome (pp. 29-45). New York: Raven Press.
106. Wisniewski, K. E., & Schmidt-Sidor, B. (1989). Postnatal delay of myelin formation in brains from Down syndrome infants and children. Clinical Neuropathology, 8(2), 55-62.
107. Zekulin-Hartley, X. (1981). Hemispheric asymmetry in Down's syndrome children. Canadian Journal of Behavioral Science, 13, 210-217.