Neuroimaging of developmental and genetic disorders

Child and Adolescent Psychiatric Clinics of North America

Volumn 6, Issue 2, 1997, Pages 283-303

  Kates, W R ^a   Kaufmann, W E ^a   Reiss, A L ^a  

^a KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; BEHAVIOR DISORDER; BRAIN BLOOD FLOW; BRAIN DEVELOPMENT; CHILD; DEVELOPMENTAL DISORDER; DOWN SYNDROME; FRAGILE X SYNDROME; GENETIC DISORDER; HUMAN; INFANT; NEUROPATHOLOGY; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITRON EMISSION TOMOGRAPHY; PREVALENCE; PRIORITY JOURNAL; RETT SYNDROME; REVIEW; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; TURNER SYNDROME; WILLIAMS BEUREN SYNDROME;

EID: 0030887683     PISSN: 10564993     EISSN: None     Source Type: Journal    
DOI: 10.1016/s1056-4993(18)30305-5     Document Type: Review

References (114)

1. Adams M.M. Erickson J.D. Layde P.M. Down syndrome: Recent trends in the United States JAMA 246 1981 758 760
2. Anvret M. Wahlstrom J. Genetics of the Rett syndrome Brain Dev 14 suppl 1992 104 108
3. Armstrong D.D. The neuropathology of Rett syndrome—overview 1994 Neuropediatrics 26 1995 100 104
4. Azari N. Horwitz B. Pettigrew K. Abnormal pattern of cerebral glucose metabolic rates involving language areas in young adults with Down syndrome Brain Lang 46 1994 1 20
5. Balazs R. Brooksband B. Certain neurochemical aspects of the pathogenesis of Down syndrome Epstein C. The Neurobiology of Down Syndrome 1986 Raven Press New York 59 72
6. Bauman M.L. Kemper T.L. Arin D.M. Microscopic observations of the brain in Rett syndrome Neuropediatrics 26 1995 105 108
7. Baumgardner T. Reiss A.L. Freund L. Specification of the neurobehavioral phenotype in males with fragile X syndrome Pediatrics 95 1995 744 752
8. Becker I. Mito T. Takashima S. Growth and development of the brain in Down syndrome Prog Clin Biol Res 373 1991 133 152
9. Belichenko P. Oldfors A. Hagberg B. Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents Neuroreport 5 1994 1509 1513
10. Bellugi U. Bihrle A. Jernigan T. Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome Am J Med Genet 6 suppl 1990 115 125
11. Benda C. Mongolism Minckler J. Pathology of the Nervous System 1972 McGraw-Hill New York 1361 1371
12. Bender B.G. Linden M.G. Robinson A. Neurocognitive and psychosocial phenotypes associated with Turner’s syndrome Broman S.H. Grafman J. Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function 1994 Lawrence Erlbaum Associates, Publishers Hillsdale, New Jersey 197 216
13. Casanova M.F. Naidu S. Goldberg T.E. Quantitative magnetic resonance imaging in Rett syndrome J Neuropsychiatry Clin Neurosci 3 1991 66 72
14. Chiron C. Bulteau C. Loc‘h C. Dopaminergic D2 receptor SPECT imaging in Rett syndrome: Increase of specific binding in striatum J Nucl Med 34 1993 1717 1721
15. Christensen A. Nielsen J. Neuropsychological investigation in 17 women with Turner’s syndrome Schmid W. Nielson J. Human Behaviour and Genetics 1981 Elsevier/North Holland Biomedical Press Amsterdam
16. Chugani H. Phelps M. Mazziotta J. Positron emission tomography study of human brain functional development Ann Neurol 22 1987 487 497
17. Clark C. Klonoff H. Hayden M. Regional cerebral glucose metabolism in Turner’s syndrome Can J Neurol Sei 17 1990 140 144
18. Cohen I.L. Fisch G.S. Sudhalter V. Social gaze, social avoidance, and repetitive behavior in fragile X males: A controlled study Am J Ment Retard 92 1988 436 446
19. Comery T. Irwin S. Brazelton A. Possible expression of fragile-X mental retardation protein in rat central nervous system [abstract] Society for Neuroscience Abstracts 21 1995 734
20. Corsi P. Coyle J. Nerve growth factor corrects developmental impairments of basal forebrain cholinergic neurons in the trisomy 16 mouse Proc Natl Acad Sei USA 88 1991 1793 1797
21. Cote L. Crutcher M.D. The basal ganglia Kandel E.R. Schwartz J.H. Principles of Neural Science, ed 3 1991 Appleton and Lange Norwalk, CT 647 659
22. Courchesne E. Townsend J. Akshoomoff N.A. Impairment in shifting attention in autistic and cerebellar patients Behav Neurosci 108 1994 848 865
23. Coyle J. Oster-Granite M. Reeves R. Down syndrome, Alzheimer’s disease, and the trisomy 16 mouse Trend Neurosci 11 1988 390 394
24. Crome L. Stern J. Down syndrome Crome L. Stern J. Pathology of mental retardation 1972 Churchill Livingstone Edinburgh 200 224
25. Crowe S.F. Hay D.A. Neuropsychological dimensions of the fragile X syndrome: Support for a nondominant hemisphere dysfunction hypothesis Neuropsychologia 28 1990 9 16
26. Cummings J.L. Frontal-subcortical circuits and human behavior Arch Neurol 50 1993 873 880
27. Cutler N. Cerebral metabolism as measured with positron emission tomography (PET) and [18F]2-deoxy-D-glucose: Healthy aging, Alzheimer’s disease and Down syndrome Prog Neuropsychopharmacol Biol Psychiatry 10 1986 309 321
28. Davisson M. Schmidt C. Reeves R. Segmental trisomy as a mouse model for Down Syndrome Epstein C.J. The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions 1993 Wiley-Liss New York 117 133
29. Deisenhammer E. Reisecker F. Leblhuber F. Single-photon emission computed tomography in the differential diagnosis of dementia Dtsch Med Wochenschr 114 1989 1639 1644
30. Della Giustina E. Forabosco A. Botticelli A.R. Neuropathology of the Turner syndrome Pediatr Med Chir 7 1985 49 55
31. Devys D. Lutz Y. Rouyer N. The FMR-1 protein is cytoplasmic, most abundant in neurons, and appears normal in carriers of a fragile X premutation Nat Genet 4 1993 335 340
32. Dicks-Mireaux M.J. Mental development of infants with Down syndrome Am J Ment Defic 77 1972 26 32
33. Ewart A. Morris C. Atkinson D. Hemizygosity at the elastin locus in a developmental disorder. Williams syndrome Nat Genet 5 1993 11 16
34. Freund LS, Baumgardner T, Mazzocco MM et al: The influence of X chromosome genes on neurobehavioral function in females: Fragile X and Turner syndromes. In press
35. Freund LS, Reiss AL: A neurocognitive phenotype of young males and females with fragile X. Developmental Neuropsychology, in press
36. Galaburda A. Wang P. Bellugi U. Cytoarchitectonic anomalies in a genetically based disorder: Williams syndrome Neuroreport 5 1994 753 757
37. Golden J. Hyman B. Development of the superior temporal neocortex is anomalous in trisomy 21 J Neuropathol Exp Neurol 53 1994 513 520
38. Hagberg B. Skjeldal O. Rett variants: A suggested model for inclusion criteria Pediatr Neurol 11 1994 5 11
39. Hagberg B. Witt-Engerstrom I. Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence Am J Med Genet l suppl 1986 47 59
40. Hagerman R.J. Jackson A. Levitas A. An analysis of autism in 50 males with the fragile X syndrome Am J Med Genet 23 1986 359 374
41. Hagerman R.J. Schreiner R.A. Kemper M.B. Longitudinal IQ changes in fragile X males Am J Med Genet 33 1989 513 518
42. Horwitz B. Schapiro M. Grady C.L. Cerebral metabolic pattern in young adult Down’s syndrome subjects: Altered intercorrelations between regional rates of glucose utilization Journal of Mental Deficiency Research 34 1990 237 252
43. Jellinger K. Armstrong D. Zoghbi H.Y. Neuropathology of Rett syndrome Acta Neuropathol 76 1988 142 158
44. Jernigan T.L. Bellugi U. Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome Arch Neurol 47 1990 529 533
45. Jernigan T.L. Bellugi U. Sowell E. Cerebral morphologic distinctions between Williams and Down syndromes Arch Neurol 50 1993 186 191
46. Johnston M.V. Hohmann C. Blue M.E. Neurobiology of Rett Syndrome Neuropediatrics 26 1995 119 122
47. Kao C. Wang P. Wang S. Regional cerebral blood flow of Alzheimer’s diseaselike pattern in young patients with Down syndrome detected by “Tcm-HMPAO brain SPECT Nucl Med Commun 14 1993 47 51
48. Kaufmann W. Mental retardation and learning disorders: A neuropathologic differentiation Capute A. Accardo P. Developmental Disabilities in Infancy and Childhood, ed 2, vol 2 1996 Paul H. Brookes Baltimore 49 70
49. Kemper M.B. Hagerman R.J. Altshul S.D. Cognitive profiles of boys with the fragile X syndrome Am J Med Genet 30 1988 191 200
50. Kemper T.L. Neuropathology of Down Syndrome Nadel L. The Psychobiology of Down Syndrome 1988 The MIT Press Cambridge, Massachusetts 269 289
51. Kerr A. Early clinical signs in the Rett disorder Neuropediatr 26 1995 67 71
52. Kesslak J.P. Nagata S.F. Lott I. Magnetic resonance imaging analysis of age-related changes in the brains of individuals with Down’s syndrome Neurology 44 1994 1039 1045
53. Khandjian E. Fortin A. Thibodeau A. A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture Hum Mol Genet 4 1995 783 789
54. Kimura M. Nakajima M. Yoshino K. Ullrich-Turner syndrome with agenesis of the corpus callosum Am J Med Genet 37 1990 227 228
55. Lachiewicz A.M. Abnormal behaviors of young girls with fragile X syndrome Am J Med Genet 43 1992 72 77
56. Lachiewicz A.M. Dawson D.V. Behavior problems of young girls with fragile X syndrome: Factor scores on the Conners’ Parent’s Questionnaire Am J Med Genet 51 1994 364 369
57. Lachiewicz A.M. Gullion C.M. Spiridigliozzi G.A. Declining IQs of young males with the fragile X syndrome Am J Ment Retard 92 1987 272 278
58. Lassen N.A. Christensen S. Hoedy-Rasmussen K. Cerebral oxygen consumption in Down’s syndrome Arch Neurol 15 1966 595 602
59. Lott I.T. The neurology of Down syndrome Epstein C.J. Neurobiology of Down Syndrome 1986 Raven Press New York 17 28
60. Mazzocco M, Kates W, Freund L et al: Autistic behaviors among girls with fragile X syndrome. J Autism Dev Disord, in press
61. McCauley E. Kay T. Ito J. The Turner syndrome: Cognitive deficits, affective discrimination, and behavior problems Child Dev 58 1987 464 473
62. Mega M.S. Cummings J.L. Frontal-subcortical circuits and neuropsychiatric disorders J Neuropsychiatry Clin Neurosci 6 1994 358 370
63. Migeon B.R. Dunn M.A. Thomas G. Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome Am J Hum Genet 56 1995 647 653
64. Molland E.A. Purcell M. Biliary atresia and the Dandy-Walker anomaly in a neonate with 45,X Turner’s Syndrome J Pathol 115 1975 227 230
65. Murakami J.M. Courchesne E. Haas R.H. Cerebellar and cerebral abnormalities in Rett syndrome Am J Roentgenol 159 1992 177 183
66. Murphy D.G. DeCarli C. Daly E. X-chromosome effects on female brain: A magnetic resonance imaging study of Turner’s syndrome [see comments] Lancet 342 1993 1197 2000
67. Nadel L. Learning, memory, and neural function in Down syndrome Perera J. Rondal J. Nadel L. Down’s syndrome. Psychological, Psychobiological, and Socio-Educational Perspectives 1996 Whurr Publishers Limited London 21 42
68. Nakayasu H. Araga S. Takahashi K. Two cases of adult Down’s syndrome presenting parietal low uptake in 123I-IMP-SPECT Rinsho Shinkeigaku 5 1991 557 560
69. Netley C. Rovet J. Atypical hemispheric lateralization in Turner syndrome subjects Cortex 18 1982 377 385
70. Oldfors A. Sourander P. Armstrong D.L. Rett syndrome: Cerebellar pathology Pediatr Neurol 6 1990 310 314
71. Pennington B.F. Heaton R.K. Karzmar P. The neuropsychological phenotype in Turner syndrome Cortex 21 1985 391 404
72. Pober B. Williams syndrome Capute A. Accardo P. Developmental Disabilities in Infancy and Childhood, ed 2, vol 2 1996 Paul H. Brookes Baltimore 271 279
73. Pober B. Filiano J. Association of Chiari malformation and Williams syndrome Pediatr Neurol 12 1995 84 88
74. Pueschel S. Gallagher P. Zartler A. Cognitive and learning processes in children with Down syndrome Res Dev Disabil 21 1987 21 37
75. Raz N. Torres I.J. Briggs S.D. Selective neuroanatomic abnormalities in Down syndrome and their cognitive correlates: Evidence from MRI morphometry Neurology 45 1995 356 366
76. Reiss A.L. Abrams M.T. Greenlaw R. Neurodevelopmental effects of the FMR-1 full mutation in humans Nature Med 1 1995 159 167
77. Reiss A.L. Aylward E. Freund L.S. Neuroanatomy of fragile X syndrome: The posterior fossa Ann Neurol 29 1991 26 32
78. Reiss A.L. Faruque F. Naidu S. Neuroanatomy of Rett syndrome: A volumetric imaging study Ann Neurol 34 1993 227 234
79. Reiss A.L. Freund L. Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children Am J Med Genet 43 1992 35 46
80. Reiss A.L. Freund L. Fragile X syndrome, DSM-III-R and autism J Am Acad Child Adolesc Psychiatry 29 1990 885 891
81. Reiss A.L. Freund L. Plotnick L. The effects of X monosomy on brain development: Monozygotic twins discordant for Turner’s syndrome Ann Neurol 34 1993 95 107
82. Reiss A.L. Freund L. Tseng J.E. Neuroanatomy in fragile X females: The posterior fossa Am J Hum Genet 49 1991 279 288
83. Reiss A.L. Lee J. Freund L. Neuroanatomy of fragile X syndrome: The temporal lobe Neurology 44 1994 1317 1324
84. Reiss A.L. Mazzocco M.M. Greenlaw R. Neurodevelopmental effects of X monosomy: A volumetric imaging study Ann Neurol 38 1995 731 738
85. Reske-Nielsen E. Christensen A.-L. Nielsen J. A neuropathological and neuropsychological study of Turner’s syndrome Cortex 18 1982 181 190
86. Riederer P. Brucke T. Sofie E. Neurochemical aspects of Rett syndrome Brain Dev 7 1985 351 360
87. Risberg J. Regional cerebral blood flow measurements by 133 Xe-inhalation: Methodology and applications in neuropsychology and psychiatry Brain Lang 9 1980 9 34
88. Ross J: Perspectives on Turner Syndrome: I. Presented at Cognitive Neuroscience and Neurodevelopmental Disorders: Conceptual and Methodological Challenges. Bethesda, Maryland, March 21-22, 1996
89. Ross M. Galaburda A. Kemper T. Down syndrome: Is there a decreased population of neurons? Neurology 34 1984 909 916
90. Rousseau F. Heitz D. Tarleton J. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases Am J Hum Genet 55 1994 225 237
91. Rovet J: Perspectives on Turner Syndrome: II. Presented at Cognitive Neuroscience and Neurodevelopmental Disorders: Conceptual and Methodological Challenges. Bethesda, Maryland, March 21-22, 1996
92. Schapiro M. Azari N. Grady C. Down syndrome: Differentiating mental retardation and dementia with brain imaging techniques Prog Clin Biol Res 379 1992 103 122
93. Schapiro M.B. MR quantification of brain structures [letter; comment] AJNR Am J Neuroradiol 14 1993 507 509
94. Schapiro M.B. Murphy D.G.M. Hagerman R.J. Adult fragile X syndrome: Neuropsychology, brain anatomy, and metabolism Am J Med Genet 60 1995 480 493
95. Siomi H. Siomi M.C. Nussbaum R.L. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein Cell 74 1993 291 298
96. Subramaniam B, Naidu S, Reiss AL, Neuroanatomy in Rett syndrome: A quantitative MRI study. Neurology, in press
97. Sudhalter V. Scarborough H.S. Cohen I.L. Syntactic delay and pragmatic deviance in the language of fragile X males Am J Med Genet 38 1991 493 497
98. Tassabehji M. Metcalfe K. Fergusson W.D. LIM-kinase deleted in Williams syndrome Nat Genet 13 1996 272 273
99. Tommerup N. Vissing H. Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders Genomics 27 1995 259 264
100. Udwin O. Yule W. A cognitive and behavioural phenotype in Williams syndrome J Clin Exp Neuropsychol 13 1991 232 244
101. Waber D. Neuropsychological aspects of Turner’s syndrome Dev Med Child Neurol 21 1979 58 70
102. Wang P.P. Bellugi U. Williams syndrome, Down syndrome, and cognitive neuroscience Am J Dis Child 147 1993 1246 1251
103. Wang P.P. Doherty S. Hesselink J.R. Callosal morphology concurs with neurobehavioral and neuropathological findings in two neurodevelopmental disorders Arch Neurol 49 1992 407 411
104. Wang P.P. Hesselink J.R. Jernigan T.L. Specific neurobehavioral profile of Williams syndrome is associated with neocerebellar hemispheric preservation Neurology 42 1992 1999 2002
105. Wenk G.L. Alternations in dopaminergic function in Rett syndrome Neuropediatrics 26 1995 123 125
106. Whalley L. The dementia of Down syndrome and its relevance to aetiological studies of Alzheimer’s disease Ann NY Acad Sei 396 1982 39 54
107. White B.J. The Turner syndrome: Origin, cytogenetic variants, and factors influencing the phenotype Broman S.H. Grafman J. Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function 1994 Lawrence Erlbaum Associates, Publishers Hillsdale, New Jersey 183 196
108. Williams J. Richman L. Yarbrough D. A comparison of memory and attention in Turner syndrome and learning disability J Pediatr Psychol 16 1991 585 593
109. Williams R. Matthyse S. Age-related changes in Down syndrome brain and the cellular pathology of Alzheimer disease Prog Brain Res 70 1986 49 67
110. Wisniewski K. Dalton A. Crapper McLachlan D. Alzheimer’s disease in Down syndrome: Clinicopathologic studies Neurology 35 1985 957 961
111. Wong D. Harris J. Naidu S. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vitro Proc Natl Acad Sei USA 93 1996 5539 5543
112. Wong D. Harris J. Singer H. Dopamine receptor transporter imaging in neuropsychiatric developmental disorders J Cereb Blood Flow Metab 15 suppl 1995 S97
113. Wong D, Naidu S, Yokoi F et al: In vivo imaging of pre-and postsynaptic dopamine receptors in Rett syndrome. Society of Neuroscience Abstracts 22, in press
114. Yoshikawa H. Fueki N. Suzuki H. Cerebral blood flow and oxygen metabolism in Rett syndrome J Child Neurol 6 1991 237 242