Down's syndrome: a genetic disorder in biobehavioral perspective

Genes, Brain and Behavior - Tập 2 Số 3 - Trang 156-166 - 2003
Lynn Nadel1
1Department of Psychology and ARL Neural Systems, Memory and Ageing Division, Univeristy of Arizona, Tuscon, Arizona, USA

Tóm tắt

Down's syndrome is a genetic disorder that can lead to mental retardation of varying degrees. How this chromosomal abnormality causes mental retardation remains an open question. This paper reviews what is currently known about the neural and cognitive features of Down's syndrome, noting the growing evidence of disproportionate impairment of specific systems such as the hippocampal formation, the prefrontal cortex and the cerebellum. The development of animal models of these defects offers a way of ultimately connecting the genetic disorder to its cognitive consequences.

Từ khóa


Tài liệu tham khảo

10.1111/j.1365-2990.1981.tb00228.x

Ball M.J., 1986, The Neurobiology of Down Syndrome, 45

10.1016/0304-3940(91)90558-B

10.1002/ana.410200413

10.1017/CBO9780511581786.011

Benda C.E., 1971, Pathology of the Nervous System, 1867

10.1016/0278-2626(89)90003-1

Blackwood W., 1976, Greenfield's Neuropathology

10.1016/0378-3782(89)90019-4

10.1016/S0028-3932(96)00055-3

10.1007/BF00230495

10.1002/ajmg.1320370756

10.1007/BF02361154

Crome L., 1966, A statistical note on cerebellar and brain‐stem weight in Mongolism, J Mental Deficiency, 10, 69

Davisson M.T., 1993, The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions., 117

10.1023/A:1010751404865

10.1111/j.1600-0447.1992.tb03277.x

10.1001/archneur.1990.00530010072022

10.1046/j.1471-4159.2003.01614.x

10.1016/0304-3940(95)12052-6

10.1007/BF00294247

Flórez J., 1992, Biomedical Concerns in Down Syndrome., 159

10.1002/ajmg.1320370759

Fowler A., 1988, The Psychobiology of Down Syndrome, 215

10.1097/00005072-199409000-00011

Greenwald C.A., 1979, Communicative and sensorimotor development of Down's syndrome children, Am J Mental Deficiency, 84, 296

10.1016/0160-2896(95)90032-2

Hepper P.G., 1992, Habituation in Normal and Down's syndrome fetuses, Q J Exp Psychol, 44, 305

10.1016/S0167-8760(98)00015-4

Holtzman D.M., 1995, Etiology and Pathogenesis of Down Syndrome., 227

Hopmann M.R.&Nothnagle M.B.(1994)A longitudinal study of early vocabulary of infants with Down syndrome and infants who are developing normally. Poster presented at International Down syndrome Research Conference. Charleston South Carolina. April 1994.

10.1016/0166-4328(94)90101-5

Horwitz B., 1990, Cerebral metabolic pattern in young adult Down's syndrome subjects: altered intercorrelations between regional rates of glucose utilization, J Mental Deficiency Res, 34, 237

10.1016/S0166-4328(02)00275-9

10.1037/0735-7044.115.6.1239

Hyman B.T., 1992, Down Syndrome and Alzheimer Disease., 123

10.1111/1469-7610.00604

Jarrold C., 2002, Verbal short‐term memory in Down syndrome: a problem of memory, audition, or speech?, J Speech, Language Hearing Res, 45, 531, 10.1044/1092-4388(2002/042)

10.1001/archneur.1990.00530050049011

10.1001/archneur.1993.00540020062019

10.1016/0378-3782(90)90127-5

10.1046/j.1365-2788.2002.00438.x

10.1002/jemt.10068

10.1212/WNL.44.6.1039

10.1177/088307389200700417

10.1111/1469-7610.00416

10.1111/1469-7610.00026

10.1111/j.1365-2788.1993.tb00316.x

Lynch M., 1990, Symposium for Research on Child Language Disorders

Mangan P.A., 1992, Unpublished doctoral Dissertation

Mangan P.A., 1990, Development of spatial memory in human infants, Bull Psychonomic Soc, 28, 513

10.1016/0022-510X(89)90019-1

10.1016/0022-510X(90)90152-D

Marcell M.M., 1988, Short‐term memory difficulties and Down's syndrome, J Mental Deficiency Res, 32, 153

10.1002/cne.901670105

10.1016/S0166-4328(02)00026-8

10.3109/00207459209003296

10.2307/1130406

10.1016/0006-3223(91)90075-W

Murphy G.M., 1992, Progress in Brain Research, Vol. 94., 475

Nadel L., 1986, The Neurobiology of Down Syndrome., 239

10.1162/jocn.1992.4.3.179

Nadel L., 1994, Memory Systems 1994., 39

Nadel L., 1999, Neurodevelopmental Disorders., 197

Nadel L., 1974, Essays on the Nervous System. A Festschrift for J.Z. Young, 367

Nadel L., 1989, The Hippocampus: New Vistas, 17

10.1007/978-1-4615-9364-5_7

O'Keefe J., 1978, The Hippocampus as a Cognitive Map

Ohr P.S., 1991, Conditioning and long‐term memory in three‐month‐old infants with Down syndrome, Am J Mental Retardation, 96, 151

10.1016/0193-3973(93)90031-P

Ohr P.S., 1994, Contingency learning in 9‐month‐old infants with Down syndrome, Am J Mental Retardation, 99, 74

Oller K., 1988, Babbling in prelinguistic retarded children, Am J Mental Retardation, 92, 369

Pazos A. Del Olmo E. Diaz A. Del Arco C. Rodriguez‐Puertas R. Pascual J. Palacios J.M.&Florez J.(1994)Serotonergic (5‐HT1Aand 5‐HT1D) and muscarinic cholinergic receptors in DS brains: An autoradiographic analysis.Poster presented at International Down syndrome Research Conference. Charleston South Carolina. April 1994.

10.1111/1467-8624.00522

10.1212/WNL.56.7.972

10.1176/appi.ajp.158.10.1659

Poulson C.L., 1988, Operant conditioning of vocalization rate of infants with Down syndrome, Am J Mental Retardation, 93, 57

10.1017/S0954579400006593

10.1212/WNL.45.2.356

Rondal J.A., 1994, Constraints on Language Acquisition: Studies of Atypical Children., 155

10.1016/0197-4580(92)90096-G

Schmidt‐Sidor B., 1990, Brain growth in Down syndrome subjects 15–22 weeks of gestational age and birth to 60 months, Clin Neuropathol, 9, 181

Sigman M., 1999, Neurodevelopmental Disorders., 179

10.1016/0022-510X(92)90108-W

Steffens M.L., 1992, Vocal development in infants with Down syndrome and infants who are developing normally, Am J Mental Retardation, 97, 235

Sylvester P.E., 1983, The hippocampus in Down's syndrome, J Mental Dificiency Res, 27, 227

Tager‐Flusberg H., 1999, The Development of Language, 311

Tager‐Flusberg H., 1999, Neurodevelopmental Disorders, 10.7551/mitpress/4945.001.0001

10.1017/S0142716402002011

Varnhagen C.K., 1987, Auditory and visual memory span: cognitive processing by TMR individuals with Down syndrome or other etiologies, Am J Mental Deficiency, 91, 398

10.1016/S0028-3932(02)00083-0

10.1002/ar.1092310421

10.1111/j.1365-2788.1993.tb00882.x

10.1002/ajmg.1320370755

Wisniewski K.E., 1994, Abnormal neurogenesis and synaptogenesis in Down syndrome, Dev Brain Dysfunction, 7, 289

Wisniewski K.E., 1986, The Neurobiology of Down Syndrome., 29

Wisniewski K., 1989, Postnatal delay of myelin formation in brains from Down syndrome infants and children, Clin Neuropathol, 8, 55