Cascading Genetic and Environmental Effects on Development: Implications for Intervention

The Genetics of Neurodevelopmental Disorders

Volumn , Issue , 2015, Pages 275-288

  Massand, Esha ^a   Karmiloff Smith, Annette ^a  

^a UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Autism Spectrum Disorder; Brain development; Child's environment; Down syndrome; Genetic origin; Neurodevelopmental disorder; Nonmedical intervention; Specific Language Impairment; Williams syndrome

Indexed keywords

EID: 85015892741     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781118524947.ch12     Document Type: Chapter

References (83)

1. Alcock, K.J., Passingham, R.E., Watkins, K., and Vargha-Khademm, F. (2000). Pitch and timing abilities in inherited speech and language impairment. Brain Lang 75, 34-46.
2. Annaz, D., Karmiloff-Smith, A., and Thomas, M.C. (2008). The importance of tracing developmental trajectories for clinical child neuropsychology. In: J. Reed, and J. Warner Rogers, eds. Child Neuropsychology: Concepts, Theory and Practice (pp. 7-18), Hoboken, US: Wiley Blackwell.
3. Ansari, D., Donlan, C., Thomas, M., Ewing, S., Peen, T., and Karmiloff-Smith, A. (2003). What makes counting count? Verbal and visuo-spatial contributions to typical and atypical number development. J Exp Child Psychol 85, 50-62.
4. Bahn, S., Mimmack, M., Ryan, M., Caldwell, M.A., Jauniaux, E., Starkey, M., Svendsen, C.N., Emson, P. (2002). Neuronal target genes of the neuron-restrictive silencer factor in neurospheres derived from fetuses with Down's syndrome: a gene expression study. Lancet 359, 310-315.
5. Baron-Cohen, S. (1998). Does the study of autism justify minimalist innate modularity? Learn Individ Differ 10, 179-191
6. Bellugi, U., Wang, P.P., and Jernigan, T.L. (1994). Williams syndrome: an unusual neuropsychological profile. In: S.H. Broman, and J. Grafman, eds. Atypical cognitive deficits in developmental disorders: implications for brain function (pp. 23-56). Hillsdale, NJ: Lawrence Erlbaum Associates.
7. Bolhuis, J.J., Zijlstra, G.G.O., den Boer-Visser, A.M., and van der Zee, E.A. (2000). Localized neuronal activation in the zebra finch brain is related to the strength of song learning. Proc Natl Acad Sci U S A. 97(5), 2282-2285.
8. Brown, J., Johnson, M.H., Paterson, S., Gilmore, R., Gsödl, M., Longhi, E., and Karmiloff-Smith, A. (2003). Spatial representation and attention in toddlers with Williams syndrome and Down syndrome. Neuropsychologia 41, 1037-1046.
9. Bowler, D.M., Gardiner, J.M., and Grice, S.J. (2000). Episodic Memory and Remembering in Adults with Asperger Syndrome. J Autism Dev Disord 30 (4), 295-304.
10. Busciglio, B.A., and Yankner, J. (1995). Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro. Nature 378, 776-779.
11. Casey, B.J., (2002). Neuroscience -Windows into the human brain. Science 296, 1408-1409.
12. Clayton-Smith, J., (2006). 15q11-13 phenotypes: Angelman and Prader-Willi syndromes. J Med Genet 43 (1), S41.
13. Cohen-Kadosh, K., and Johnson, M.H. (2007). Developing a cortex specialized for face perception. Trends Cogn Sci 11, 367-369.
14. Comery, T. A., Harris, J. B., Willems, P. J., Oostra, B. A., Irwin, S. A., Weiler, I. J. & Greenough, W. T. (1997). Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proceedings of the National Academy of Sciences, 94, 5401-5404.
15. Cornish, K.M., Li, L., Kogan, C.S., Jacquemont, S., Turk, J., Dalton, A., Hagerman, R.J., and Hagerman, P.J. (2008). Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex 44 (6), 628-636.
16. Cornish, K., Scerif, G., and Karmiloff-Smith, A. (2007). Tracing syndrome-specific trajectories of attention across the lifespan. Cortex 43, 672-685.
17. De Haan,M., Pascalis, O., and Johnson, M.H. (2002). Specialization of neural mechanisms underlying face recognition in human infants. J. Cognitive Neurosci. 14(2), 199-209.
18. Dekker, T.M., and Karmiloff-Smith, A. (2011). The dynamics of ontogeny: a neuroconstructivist perspective on genes, brains, cognition and behavior. Prog Brain Res 189, 22-33. DOI: 10.1016/B978-0-444-53884-0.00016-6.
19. Diamond, A. (2007). Consequences of variations in genes that affect dopamine in prefrontal cortex. Cereb Cortex 17, 161-170.
20. Elman, J.L., Bates, E., Johnson, M.H., Karmiloff-Smith, A., Parisi, D., and Plunkett, K. (1996). Rethinking innateness: A connectionist perspective on development. Cambridge, MA: MIT Press.
21. Elsabbagh, M., and Johnson, M.H. (2010). Getting answers from babies about autism. Trends Cogn Sci 14, 81-87
22. Enard, W., Przeworski, M., Fisher, S.E., Lai, S.L., Wiebe, V., Kitano, T., et al. (2002).Molecular evolution of FOXP2, a gene involved in speech and language. Nature 418, 869-872
23. Farran, E.K., and Karmiloff-Smith, A., eds (2012). Neurodevelopmental Disorders Across the Lifespan: A Neuroconstructivist Approach. Oxford: Oxford University Press.
24. Fonteneau, C., and van der Lely, H.J.K. (2007). Electrical brain responses in language-impaired children reveal grammar-specific deficits. PLoS One, 3(3), e1832. DOI: 10.1371/journal.pone.0001832
25. Frith, U. (1991). Autism and Asperger Syndrome. London: Cambridge University Press.
26. Gai, X., Xie, H.M., Perin, J.C., Takahashi, N., Murphy, K., Wenocur, A.S., D'arcy, M., O'Hara, R.J., Goldmuntz, E., Grice, D.E., Shaikh, T.H., Hakonarson, H., Buxbaum, J.D., Elia, J., and White, P.S. (2011).Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry 17, 402-411.
27. Geschwind, D.H. (2011). Genetics of autism spectrum disorders. Trends Cogn Sci 15(9), 409-416.
28. Gopnik, M., and Crago, M.B. (1991). Familial aggregation of a developmental language disorder. Cognition 39 (1), 1-50.
29. Gottlieb, G. (2007). Probabilistic epigenesis. Dev Sci 10, 1-11.
30. Gray, V., Karmiloff-Smith, A., Funnell, E., and Tassabehji, M. (2006). In-depth analysis of spatial cognition inWilliams Syndrome: a critical assessment of the role of the LIMK1 gene. Neuropsychologia 44(5), 679-685.
31. Grice, S.J., de Haan, M., Halit, H., Johnson, M.H., Csibra, G., Grant, J., and Karmiloff-Smith, A. (2003). ERP abnormalities of visual perception in Williams syndrome. Neuroreport 14, 1773-1777
32. Grice, S., Spratling, M.W., Karmiloff-Smith, A., Halit, H., Csibra, G., de Haan, M., et al. (2001). Disordered visual processing and oscillatory brain activity in autism and Williams syndrome. Neuroreport 12, 2697-2700.
33. Groszer, M., Keays, D.A., Deacon, R.M.J., de Bono, J.P., Prasad-Mulcare, S., Gaub, S., et al. (2008). Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits. Curr Biol 18, 354-362.
34. Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., Miller, J., Fedele, A., Collins, J., Smith, K., Lotspeich, L., Croen, L.A., Ozonoff, S., Lajonchere, C., Grether, J.K., Risch, N. (2011). Arch Gen Psychiatry 68 (11), 1095-1102. PMID: 21727249
35. Haesler, S., Wada, K., Nshdejan, A., Morrisey, E.E., Lints, T., Jarvis, E.D., and Scharff, C. (2004). FoxP2 expression in avian vocal learners and nonlearners. J Neurosci 24(13), 3164-3175. DOI: 10.1523/JNEUROSCI.4369-03.2004
36. Happé, F., and Ronald, A. (2008). 'Fractionable Autism Triad': A Review of Evidence from Behavioural, Genetic, Cognitive and Neural Research. Neuropsychol Rev 18, 287-304.
37. Huttenlocher, P.R., and Dabholkar, A.S. (1997). Regional differences in synaptogenesis in human cerebral cortex. J Comp Neurol 387, 167-178.
38. Johnson, M.H. (2001). Functional brain development in humans. Nat Rev Neurosci 2, 475-483.
39. John, A.E., and Mervis, C.B. (2010). Comprehension of the communicative intent behind pointing and gazing gestures by young children with Williams syndrome or Down syndrome. J Speech Lang Hear Res 53, 950-960.
40. Kaffman, A., and Meaney, M.J. (2007). Neurodevelopmental sequelae of postnatal maternal care in rodents: Clinical and research implications of molecular insights. J Child Psychol Psychiatry 48(3-4), 224-244.
41. Karmiloff-Smith, A. (1998). Development itself is the key to understanding developmental disorders. Trends Cogn Sci 2(10), 389-398.
42. Karmiloff-Smith, A. (2009). Nativism vs neuroconstructivism: Rethinking developmental disorders. Dev Psychol 45, 56-63.
43. Karmiloff-Smith, A. (2010). Neuroimaging of the developing brain: taking "developing" seriously. Hum Brain Mapp 31 (6), 934-941.
44. Karmiloff-Smith, A., (2013). Challenging the use of adult neuropsychological models for explaining neurodevelopmental disorders: Developed versus developing brains. Q J Exp Psychol 66 (1), 1-14.
45. Karmiloff-Smith, A., Aschersleben, G., de Schonen, T., Elsabbagh, M., Hohenberger, A., and Serres, J. (2010). Constraints on the timing of infant cognitive change: Domain-specific or domain-general? Eur J Dev Sci 4(1), 31-45.
46. Karmiloff-Smith, A., Broadbent, H. Farran, E.K., Longhi, E., D'Souza, D.,Metcalfe, K., Tassabehji, M.,Wu, R., Senju,A., Happé, F., Turnpenny, P. and Sansbury, F. (2012). Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients. Front Psychol 3, 168. DOI: 10.3389/fpsyg.2012.00168
47. Karmiloff-Smith, A., Grant, J., Ewing, S., Carette,M.J., Metcalfe,K., Donnai, D.,Read,A.P., Tassabehji, M. (2003). Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. J Med Genet 40(2), 136-140.
48. Karmiloff-Smith, A., Thomas, M.S.C., Annaz, D., Humphreys, K., Ewing, S., Brace, N., van Duuren, M., Pike, G., Grice, S., and Campbell, R. (2004). Exploring the Williams Syndrome Face Processing Debate: The importance of building developmental trajectories. J Child Psychol Psyc 45 (7), 1258-1274.
49. Korbel, J.O., Tirosh-Wagner, T., Urban, A.E., Chen, X.N., Kasowsk, M., Dai, L., Grubert, F., Erdman, C., Gao, M.C., Lange, K., Sobel, E.M., Barlow, G.M., Aylsworth, A.S., Carpenter, N.J., Clark, R.D., Cohen, M.Y., Doran, E., Falik-Zaccai, T., Lewin, S.O., Lott, I.T., McGillivray, B.C., Moeschler, J.B., Pettenati, M.J., Pueschel, S.M., Rao, K.W., Shaffer, L.G., Shohat, M., Van Riper, A.J.,Warburton, D.,Weissman, S., Gerstein, M.B., Snyder, M., and Korenberg, J.R. (2009). The Genetic Architecture of Down Syndrome Phenotypes Revealed by High Resolution Analysis of Human Segmental Trisomies. Proc Natl Acad Sci U S A, 106(29), 12031-12036.
50. Lai, C.S., Fisher, S.E., Hurst, J.A., Vargha-Khadem, F., Monaco, A.P. (2001). A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413, 519-523.
51. Lott, I.T., and Dierssen, M. (2010). Cognitive deficits and associated neurological complications in individuals with Down's syndrome. Lancet Neurol 9, 623-633.
52. Lai, C.S., Gerrelli, D., Monaco, A.P., Fisher, S.E., and Copp, A.J. (2003). FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain 126, 2455-2462.
53. Lott, I.T., Head, E., Doran, E., Busciglio, J. (2006). Beta-amyloid, oxidative stress and down syndrome. Curr Alzheimer Res 3, 521-528.
54. Maglione,M.A., Gans, D., Das, L., Timbie, J., Kasari, C., (2012). Nonmedical interventions for children with ASD: recommended guidelines and further research needs. Pediatrics 130(Suppl 2) S169-S178. [PMID: 23118248]
55. Mareschal, D., Johnson, M.H., Sirois, S., Spratling, M., Thomas, M., andWestermann, G. (2007). Neuroconstructivism, Vol. I: How the brain constructs cognition. Oxford, UK: Oxford University Press.
56. Martens, M.A., Wilson, S.J., and Reutens, D.C. (2008). Research review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psyc 49, 576-608.
57. Massand, E., Jemel, B., Mottron, L., and Bowler, D.M. (2013). ERP correlates of recognition memory in autism spectrum disorder. JAutismDev Disord. Online First.
58. Meyer-Lindenberg, A., Hariri, A.R., Munoz, K.E., et al. (2005). Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci 8, 991-993.
59. Mills, D.L., Alvarez, T.D., St. George, M., Appelbaum, L.G., Bellugi, U., and Neville, H. (2000). Electrophysiological studies of face processing in Williams syndrome. J Cogn Neurosci 12, 47-64.
60. Nadel, L. (2003). Down's syndrome: a genetic disorder in biobehavioral perspective. Genes Brain Behav 2,156-166.
61. Neville, H.J. (2006). Different profiles of plasticity within human cognition. In: Y. Munakata, and M. Johnson eds. Processes of change in brain and cognitive development: Attention and Performance XXI (pp. 287-314) London: Oxford University Press.
62. Neville, H.J., and Mills, D.L., (1997). Epigenesis of Language. Ment Retard Dev Disabil Res Rev 3, 282-292.
63. Oliver, A., Johnson, M.H., Karmiloff-Smith, A., and Pennington, B. (2000). Deviations in the emergence of representations: A neuroconstructivist framework for analyzing developmental disorders. Dev Sci 3, 1-23.
64. Osborne L.R. (2012). Genes: the gene expression approach. In: E.K. Farran, and A. Karmiloff-Smith eds. Neurodevelopmental Disorders Across the Lifespan: A Neuroconstructivist Approach (pp. 59-81). Oxford: Oxford University Press.
65. Ozonoff, S., Young, G., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., Bryson, S., Carver, L.J., Constantino, J.N., Dobkins, K., Hutman, T., Iverson, J.M., Landa, R., Rogers, S.J., Sigman, M., and Stone,W.L. (2011). Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics 128, 488-495.
66. Pembrey, M., Fennell, S.J., Van Den Berghe, J., Fitchett, M., Summers, D., Btler, L. Clarke, C., Griffiths, M., Thompsn, E., Super, M., and Baraitser, M. (1989). The association of Angelman's syndrome with deletions within 15q11-13. J Med Genet 26, 73-77.
67. Piaget, J. (1971). Genetic epistemology. New York: W.W. Norton.
68. Pinker, S. (2001).Words and rules: The ingredients of language. New York, NY: Basic Books.
69. Robinson E.B., Koenen, K.C., McCormick, M.C., Munir, K., Hallett, V., Happe, F., Plomin, R., and Ronald, A. (2012). A multivariate twin study of autistic traits in 12-year-olds: Testing the fractionable autism triad hypothesis. Behav Genet 42 (2), 245-255
70. Rossen, M.L., Jones, W., Wang, P.P., and Klima, E.S. (1996). Face processing: remarkable sparing in Williams syndrome. Special Issue, Genet Counsel 6 (1), 138-140.
71. Rosenberg, R., Law, J., Yenokyan, G., McGready, J., Kaufmann, W., and Law, P. (2009). Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs. Arch Pediat Adolesc Med 163 (10), 907-914. DOI: 10.1001/archpediatrics.2009.98
72. Rugg, M.D., and Curran, T. (2007). Event-related potentials and recognition memory. Trends Cogn Sci 11, 251-257.
73. Semel, E., and Rosner, S. (2003). Understanding Williams Syndrome. Mahwah NJ: Lawrence Erlbaum Associates.
74. Smith, T. (2001) Discrete Trial Training in the Treatment of Autism. Focus on Autism and Other Developmental Disabilities, 16 (2), 86-92.
75. Smith, A.D., Gilchrist, I.D., Hood, B. Tassabehji, M., and Karmiloff-Smith, A. (2009). Inefficient search of large-scale space in Williams Syndrome: Further insights on the role of LIMK1 deletion in deficits of spatial cognition. Perception 38 (5), 694-701.
76. Tassabehji, M., Metcalfe, K., Karmiloff-Smith, A., Carette, M.J., Grant, J., Dennis, N., Reardon, W., Splitt, M., Read, A.P., and Donnai D. (1999). Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 64, 118-125.
77. Thomas, M.S.,Knowland,V.C., and Karmiloff-Smith, A. (2011). Mechanisms of developmental regression in autism and the broader phenotype: A neural network modeling approach. Psychol Rev 118(4), 637-654.
78. Tomalski, P., Moore, D.G., Ribeiro, H., Axelsson, E.L., Murphy, E., Karmiloff-Smith, A., et al. (2013). Socio-economic status and functional brain development: Associations in early infancy. Dev Sci 16(5), 676-687.
79. Udwin, O., and Yule, W. (1991). A cognitive and behavioural phenotype in Williams syndrome. J Clin Exp Neuropsyc 13 (2), 232-244.
80. van der Lely, H.K.J. (2005). Domain-specific cognitive systems: Insight from grammatical specific language impairment. Trends Cogn Sci 9, 53-59.
81. Van Herwegen, J., Ansari, D., Xu, F., and Karmiloff-Smith, A. (2008). Small and large number processing in infants and toddlers with Williams syndrome. Dev Sci 11, 637-643.
82. Watson, J.B. (1913). Psychology as the Behaviorist Views it. Psychol Rev 20, 158-177.
83. Wass, S., Porayska-Pomsta, K., and Johnson, M.H. (2011). Training Attentional Control in Infancy. Curr Biol 21 (18), 1543-1547.