In this paper, I contrast approaches from adult neuropsychology that seek selective, domain-specific deficits with approaches aimed at understanding the dynamics of developmental trajectories in children with genetic disorders. I stress the crucial difference between developed brains damaged in their mature state, and atypically developing brains. I also challenge the search for single genes to explain selective cognitive-level outcomes. Throughout, the paper argues that it is critical to trace cognitive-level deficits back to their basic-level processes in infancy, where genes are likely to exert their early influences, if we are to understand both the impairments and proficiencies displayed in children with neurodevelopmental disorders.
Alcock, K. J., Passingham, R. E., Watkins, K., & Vargha-Khademm, F. (2000). Pitch and timing abilities in inherited speech and language impairment. Brain and Language, 75, 34–46.
2.
BatesE.Origins of language disorders: A comparative approach.Developmental Neuropsychology,199713, 3447–476.
3.
BoddaertN.MochelF.MeresseI.SeidenwurmD.CachiaA.BrunelleF.Parieto-occipital grey matter abnormalities in children with Williams syndrome.NeuroImage,200630, 721–725.
4.
BolhuisJ.J.ZijlstraG.G. O.den Boer-VisserA.M.van der ZeeE.A.Localized neuronal activation in the zebra finch brain is related to the strength of song learning.Proceedings of the National Academy of Sciences of the United States of America,200097, 52282–2285.
5.
BrannonE.M.The representation of numerical magnitude.Current Opinion in Neurobiology,200616, 222–229.
6.
BrannonE.M.AbbottS.LutzD.Number bias for the discrimination of large visual sets in infancy.Cognition,200493, B59–B68.
7.
BrownJ.JohnsonM.H.PatersonS.GilmoreR.GsödlM.LonghiE.Karmiloff-SmithA.Spatial representation and attention in toddlers with Williams syndrome and Down syndrome.Neuropsychologia,200341, 1037–1046.
8.
ButterworthB.Foundational numerical capacities and the origins of dyscalculia.Trends in Cognitive Sciences,201014, 12534–541.
9.
CampbellL.E.DalyE.ToalF.StevensA.AzumaR.Karmiloff-SmithA.Brain structural differences associated with the behavioural phenotype in children with Williams syndrome.Brain Research,20091258, 96–107.
10.
CaseyB.J.GieddJ.N.ThomasK.M.Structural and functional brain development and its relation to cognitive development.Biological Psychology,200054, 241–257.
11.
CaseyB.J.RiddleM.Typical and atypical development of attention.Cognitive neuroscience of attention 2,PosnerM.I.Guilford PressNew York, NY2012345–356.
12.
ChiangM.-C.ReissA.L.LeeA.BellugiU.GalaburdaA.KroenbergJ.3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry.NeuroImage,200736, 1096–1109.
13.
ChoudhuryN.BenaischA.A.Maturation of auditory evoked potentials from 6 to 48 months: Prediction to 3 and 4 year language and cognitive abilities.Clinical Neurophysiology,2011122, 320–338.
14.
CicchettiD.TuckerD.Development and self-regulatory structures of the mind.Development and Psychopathology,19946, 533–549.
15.
ClahsenH.TempleC.M.Words and rules in children with William's syndrome.Language competence across populations: Toward a definition of specific language impairment,LevyY.SchaefferJ.Lawrence Erlbaum AssociatesHillsdale, NJ2003323–352.
16.
De HaanM.PascalisO.JohnsonM.H.Specialization of neural mechanisms underlying face recognition in human infants.Journal of Cognitive Neuroscience,200214, 2199–209.
17.
DehaeneS.The number sense: How the mind creates mathematics,Oxford University PressOxford, UK1997.
18.
DemeyereN.LesterV.HumphreysG.Neuropsychological evidence for a dissociation in counting and subitizing.Neurocase,201016, 219–237.
19.
DonnaiD.Karmiloff-SmithA.Williams syndrome: From genotype through to the cognitive phenotype.American Journal of Medical Genetics,200097, 164–171.
20.
DuchaineB.Developmental prosopagnosia with normal configural processing.Neuroreport,200011, 179–83.
21.
DuchaineB.CosmidesL.ToobyJ.Evolutionary psychology and the brain.Current Opinion in Neurobiology,200111, 225–230.
22.
DuchaineB.NakayamaK.Developmental prosopagnosia: A window to content-specific face processing.Current Opinion in Neurobiology,200616, 2166–173.
23.
DurstonS.DavidsonM.C.TottenhamN.GalvanA.SpicerJ.FosellaJ.A.A shift from diffuse to focal cortical activity with development.Developmental Science,20069, 11–8.
24.
EckertM.A.GalaburdaA.M.MillsD.L.BellugiU.KorenbergJ.R.ReissA.L.The neurobiology of Williams syndrome: Cascading influences of visual system impairment?.Cellular and Molecular Life Sciences,200663, 1867–1875.
25.
EisenbergD.P.JabbiM.BermanK.F.Bridging the gene behaviour divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes.NeuroImage,201053, 857–869.
26.
ElmanJ.L.BatesE.JohnsonM.H.Karmiloff-SmithA.ParisiD.PlunkettK.Rethinking innateness: A connectionist perspective on development,MIT PressCambridge, MA1996.
27.
EnardW.PrzeworskiM.FisherS.E.LaiS.L.WiebeV.KitanoT.Molecular evolution of FOXP2, a gene involved in speech and language.Nature,2002418, 869–872.
28.
GallaburdaA.HolingerD.BellugiU.ShermanmG.Williams syndrome: Neuronal size and neuronal-packing density in primary visual cortex.Archives of Neurology,200259, 1461–1467.
29.
GermineL.CashdollarN.DuzelE.DuchaineB.A new selective developmental deficit: Impaired object recognition with normal face recognition.Cortex,201147, 598–607.
30.
GolaraiG.HongS.HaasB.GalaburdaA.MillsD.BellugiU.The fusiform face area is enlarged in Williams syndrome.Journal of Neuroscience,201030, 6700–6712.
31.
GopnikM.CragoM.B.Familial aggregation of a developmental language disorder.Cognition,199139, 1–50.
32.
GrayV.Karmiloff-SmithA.FunnellE.TassabehjiM.In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene.Neuropsychologia,200644, 5679–685.
33.
GriceS.J.de HaanM.HalitH.JohnsonM.H.CsibraG.GrantJ.ERP abnormalities of visual perception in Williams syndrome.Neuroreport,200314, 1773–1777.
34.
GriceS.SpratlingM.W.Karmiloff-SmithA.HalitH.CsibraG.de HaanM.Disordered visual processing and oscillatory brain activity in autism and Williams syndrome.Neuroreport,200112, 2697–2700.
35.
GrosznerM.KeaysD.A.DeaconR.M. J.de BonoJ.P.Prasad-MulcareS.GaubS.Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits.Current Biology,200818, 354–362.
36.
Haesler, S., Wada, K., Nshdejan, A., Morrisey, E. E., Lints, T., Jarvis, E. D., & Scharff, C. (2004). FoxP2 expression in avian vocal learners and non-learners. Journal of Neuroscience, 24(13), 3164–3175. doi:10.1523/JNEUROSCI.4369-03.2004.
37.
HoeftF.Barnea-GoralyN.HassB.W.GolaraiG.NgD.MillsD.More is not always better: Increased fasciculus associated with poor visuospatial abilities in Williams syndrome.Journal of Neuroscience,200727, 11960–11965.
38.
HolingerD.P.BellugiU.MillsD.L.KorenbergJ.R.ReissA.L.ShermanG.F.Relative sparing of primary auditory cortex in Williams syndrome.Brain Research,20051037, 35–42.
39.
HuttenlocherP.R.DabholkarA.S.Regional differences in synaptogenesis in human cerebral cortex.The Journal of Comparative Neurology,1997387, 167–178.
40.
IzardV.Dehaene-LambertzG.DehaeneS.Distinct cerebral pathways for object identity and number in human infants.PLoS Biology,20086, 2e11.
41.
JerniganT.L.BellugiU.Neuroanatomical distinctions between Williams and Down syndromes.Atypical cognitive deficits in developmental disorders: Implications in brain function,BromanS.GrafnabJ.Lawrence Erlbaum AssociatesHillsdale, NJ199457–66.
42.
JohnA.E.MervisC.B.Comprehension of the communicative intent behind pointing and gazing gestures by young children with Williams syndrome or Down syndrome.Journal of Speech, Language, and Hearing Research,201053, 950–960.
43.
JohnsonM.H.Functional brain development in humans.Nature Reviews. Neuroscience,20012, 475–483.
44.
Karmiloff-SmithA.Beyond modularity: A developmental approach to cognitive science,MIT PressCambridge, MA1992.
45.
Karmiloff-SmithA.Development itself is the key to understanding developmental disorders.Trends in Cognitive Sciences,19982, 10389–398.
Karmiloff-SmithA.Nativism vs neuroconstructivism: Rethinking developmental disorders.Developmental Psychology,200945, 56–63.
48.
Karmiloff-SmithA.Neuroimaging of the developing brain: Taking “developing” seriously.Human Brain Mapping,201031, 6934–941.
49.
Karmiloff-SmithA.Perspectives on the dynamic development of cognitive capacities: Insights from Williams syndrome.Current Opinion in Neurology,201225, 106–111.
50.
Karmiloff-SmithA.AscherslebenG.de SchonenT.ElsabbaghM.HohenbergerA.SerresJ.Constraints on the timing of infant cognitive change: Domain-specific or domain-general?.European Journal of Developmental Science,20104, 131–45.
51.
Karmiloff-SmithA.BroadbentH.FarranE.K.LonghiE.D'SouzaD.MetcalfeK.Social cognition in Williams syndrome: Genotype/phenotype insights from partial deletion patients.Frontiers in Developmental Psychology,20123, 168.
52.
Karmiloff-SmithA.D'SouzaD.DekkerT.M.Van HerwegenJ.XuF.RodicM.AnsariD.Genetic and environmental vulnerabilities in children with neurodevelopmental disorders.PNAS,2012109, Supp. 217261–17265.
53.
Karmiloff-SmithA.GrantJ.EwingS.CaretteM.J.MetcalfeK.DonnaiD.Using case study comparisons to explore genotype–phenotype correlations in Williams–Beuren syndrome.Journal of Medical Genetics,200340, 2136–140.
54.
Karmiloff-SmithA.ScerifG.AnsariD.Double dissociations in developmental disorders? Theoretically misconceived, empirically dubious.Cortex,200339, 161–163.
55.
Karmiloff-SmithA.ThomasM.S. C.What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome.Development and Psychopathology,200315, 969–990.
56.
Karmiloff-SmithA.ThomasM.AnnazD.HumphreysK.EwingS.BraceN.CampbellR.Exploring the Williams syndrome face processing debate: The importance of building developmental trajectories.Journal of Child Psychology and Psychiatry, and Allied Disciplines,200445, 71258–1274.
57.
KingsburyM.A.FinlayB.L.The cortex in multidimensional space: Where do cortical areas come from?.Developmental Science,20014, 2125–142.
58.
KrakowJ.B.KoppC.B.Sustained attention in young Down syndrome children.Topics in Early Childhood Special Education,19822, 32–42.
59.
LaiC.S. L.FisherS.E.HurstJ.A.Vargha-KhademF.MonacoA.P.A forkhead-domain gene is mutated in a severe speech and language disorder.Nature,2001413, 519–523.
60.
LaiC.S. L.GerrelliD.MonacoA.P.FisherS.E.CoppA.J.FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.Brain,2003126, 2455–2462.
61.
LandauB.HoffmanJ.E.KurzN.Object definition with severe spatial deficits in Williams syndrome: Sparing and breakdown.Cognition,2005100, 483–510.
62.
LiptonJ.S.SpelkeE.S.Origins of number sense: Large-number discrimination in human infants.Psychological Science,200314, 396–401.
63.
ListonC.McEwenB.S.CaseyB.J.Psychosocial stress reversibly disrupts prefrontal processing and attentional control.Proceedings of the National Academy of Sciences of the United States of America,2009106, 3912–917.
64.
LudersE.NarrK.L.BilderR.M.ThompsonP.M.SzeszkoP.R.HamiltonL.Positive correlations between corpus callosum thickness and intelligence.NeuroImage,200737, 1457–1464.
65.
MarencoS.SiutaM.KippenhanJ.GrodofskyS.ChangW.-L.KohnP.Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome.Proceedings of the National Academy of Sciences of the United States of America,2007104, 155117–155122.
66.
MeaneyM.J.SzyfM.Environmental programming of stress responses through DNA methylation: Life at the interface between a dynamic environment and a fixed genome.Dialogues in Clinical Neuroscience,20057, 103–123.
67.
MenghiniD.Di PaolaM.FedericoF.VicariS.PetrosiniL.CaltagironeC.Relationship between brain abnormalities and cognitive profile in Williams syndrome.Behavioural Genetics,201141, 394–402.
68.
Meyer-LindenbergA.MervisC.B.BermanK.F.Neural mechanisms in Williams syndrome: A unique window to genetic influences on cognition and behaviour.Nature Reviews. Neuroscience,20067, 380–393.
69.
Meyer-LindenbergA.MervisC.B.SarpalD.KochP.SteeleS.KohnP.Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome.Journal of Clinical Investigation,2005115, 1888–1895.
70.
MillsD.L.AlvarezT.D.St. GeorgeM.AppelbaumL.G.BellugiU.NevilleH.Electrophysiological studies of face processing in Williams syndrome.Journal of Cognitive Neuroscience,200012, 47–64.
71.
MillsD.L.Coffy-CorinsS.NevilleH.Language comprehension and cerebral specialisation from 13–20 months.Developmental Science,199713, 397–445.
72.
Minagawa-KawaiY.MoriK.NaoiN.KojimaS.Neural attunement processes in infants during the acquisition of a language-specific phonemic contrast.Journal of Neuroscience,200727, 315–321.
73.
MobbsD.EckertM.A.MillsD.KorenbergJ.BellugiU.GalaburdaA.M.Frontostriatal dysfunction during response inhibition in Williams syndrome.Biological Psychiatry,200762, 256–261.
74.
NevilleH.J.MillsD.L.BellugiU.Effects of altered auditory sensitivity and age of language acquisition on the development of language-relevant neural systems: Preliminary studies of Williams syndrome.Atypical cognitive deficits in developmental disorders: Implications for brain function,BromanS.GrafmanJ.Lawrence Erlbaum AssociatesHillsdale, NJ199467–83.
75.
OsborneL.R.Genes: The gene expression approach.Neurodevelopmental disorders across the lifespan: A neuroconstructivist approach,FarranE.K.Karmiloff-SmithA.Oxford University PressOxford, UK201259–81.
76.
PatersonS.J.BrownJ.H.GsödlM.K.JohnsonM.H.Karmiloff-SmithA.Cognitive modularity and genetic disorders.Science,1999286, 2355–2358.
77.
PinkerS.Words and rules: The ingredients of language,Basic BooksNew York, NY2001.
78.
PoberB.R.Williams–Beuren syndrome.New England Journal of Medicine,2010362, 239–252.
79.
QuartzS.R.SejnowskiT.J.The neural basis of cognitive development: A constructivist manifesto.Behavioral and Brain Sciences,199720, 4537–596.
80.
RaeC.Karmiloff-SmithA.LeeM.A.DixonR.M.BlamireA.M.ThompsonC.H.Brain biochemistry in Williams syndrome. Evidence for a role of the cerebellum in cognition?.Neurology,199851, 33–40.
81.
ReissA.L.EckertM.A.RoseF.E.KarcheminskiyA.KeslerS.ReynoldsM.F.An experiment of nature: Brain anatomy parallels cognition and behaviour in Williams syndrome.Journal of Neuroscience,200424, 5009–5015.
82.
Rice, M. L., & Wexler, K. (1996). Toward tense as a clinical marker of specific language impairment in English-speaking children. Journal of Speech and Hearing Research, 39, 1239–1257.
83.
SadatoN.OkadaT.HondaM.YonekuraY.Critical period for cross-modal plasticity in blind humans: A functional MRI study.NeuroImage,200216, 389–400.
84.
SampaioA.BouixS.SousaN.PrietoM.VasconcelosC.Morphometry and connectivity of corpus callosum: Indices of neural development in Williams syndrome.International Journal of Developmental Neuroscience,201028, 716.
85.
SarpalD.BuchsbaumB.R.KohnP.D.KippenhanJ.S.MervisC.B.MorrisC.AA genetic model for understanding higher order visual processing: Functional interactions of the ventral visual stream in Williams syndrome.Cerebral Cortex,200818, 2402–2409.
86.
SchmittJ.E.EliezS.WarsofskyI.S.BellugiU.ReissA.Corpus callosum morphology of Williams syndrome: Relation to genetics and behaviour.Developmental Medicine Child Neurology,2001a 43, 155–159.
87.
SchmittJ.E.EliezS.WarsofskyI.S.BellugiU.ReissA.L.Enlarged cerebellar vermis in Williams syndrome.Journal of Psychiatric Research,2001b 35, 225–229.
88.
SimonT.J.Reconceptualizing the origins of number knowledge: A “non numerical” account.Cognitive Development,199712, 349–372.
89.
SmithA.D.GilchristI.D.HoodB.TassabehjiM.Karmiloff-SmithA.Inefficient search of large-scale space in Williams syndrome: Further insights on the role of LIMK1 deletion in deficits of spatial cognition.Perception,200938, 5694–701.
90.
TassabehjiM.HammondP.Karmiloff-SmithA.MetcalfeK.ThompsonP.DurkinM.GTF2IRD1 in craniofacial development of humans and mice.Science,2005310, 57511184–1187.
91.
TassabehjiM.MetcalfeK.Karmiloff-SmithA.CaretteM.J.GrantJ.DennisN.Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.American Journal of Human Genetics,199964, 118–125.
92.
TempleC.M.Cognitive neuropsychology and its application to children.Journal of Child Psychology and Psychiatry,199738, 127–52.
93.
Teramitsu, I., & White, S. A. (2008). Motor learning: The FoxP2 puzzle piece. Current Biology, 18(8), R335–R337. doi:10.1016/j.cub.2008.02.048.
94.
ThomasM.S. C.AnnazD.AnsariD.ScerifG.JarroldC.Karmiloff-SmithA.Using developmental trajectories to understand developmental disorders.Journal of Speech, Language, and Hearing Research,200952, 2336–358.
95.
ThomasM.S.KnowlandV.C.Karmiloff-SmithA.Mechanisms of developmental regression in autism and the broader phenotype: A neural network modeling approach.Psychological Review,2011118, 4637–654.
96.
ThompsonP.M.LeeA.D.DuttonR.A.GeagaJ.A.HayashiK.M.EckertM.A.Abnormal cortical complexity and thickness profiles mapped in Williams syndrome.Journal of Neuroscience,200525, 4146–4158.
97.
TobiiTobii user manual 2,AuthorStockholm, Sweden2003.
98.
TomaiuoloF.Di PaolaM.CaravaleB.VicariS.PetridesM.CaltagironeC.Morphology and morphometry of the corpus callosum in Williams syndrome: A T1-weighted MRI study.Neuroreport,200213, 2281–2284.
99.
TomalskiP.MooreD.G.RibeiroH.AxelssonE.L.MurphyE.Karmiloff-SmithA.Socio-economic status and functional brain development: Associations in early infancy.Developmental Science, in press.
100.
TottenhamN.HareT.A.QuinnB.T.McCarryT.W.NurseM.GilhoolyT.CaseyB.J.Prolonged institutional rearing is associated with atypically larger amygdala volume and difficulties in emotion regulation.Developmental Science,201013, 146–61.
101.
TottenhamN.HareT.A.MillnerA.GilhoolyT.ZevinJ.CaseyB.J.Elevated amygdala response to faces following early deprivation.Developmental Science,201114, 2190–204.
102.
Van HerwegenJ.AnsariD.XuF.Karmiloff-SmithA.Small and large number processing in infants and toddlers with Williams syndrome.Developmental Science,200811, 637–643.
103.
XuF.Numerosity discrimination in infants: Evidence for two systems of representations.Cognition,200389, B15–B25.
104.
XuF.ArriagaR.I.Number discrimination in 10-month-old infants.The British Journal of Developmental Psychology,200725, 103–108.
