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01-04-2012

Het fragiele-X-syndroom: cognitieve vaardigheden en onderliggende problemen in de informatieverwerking

Auteur: Dr. M. J. W. Molen

Gepubliceerd in: Neuropraxis | Uitgave 2/2012

Samenvatting

Het fragiele-X-syndroom (FXS) is een erfelijke ontwikkelingsstoornis die zowel voor bij mannen (1:4000) als bij vrouwen (1:8000) voorkomt. FXS wordt veroorzaakt door functieverlies van het fragiele- X-mentaleretardatiegen (FMR1), gelegen op het X-chromosoom, waarbij het genetische product van het FMR1-gen (FMRP) niet of te weinig wordt aangemaakt. FMRP speelt een belangrijke rol tijdens de vroege hersenontwikkeling en wordt gezien als de belangrijkste oorzaak voor de beperking in verstandelijk vermogens en gedrag bij personen met FXS (Verkerk et al., 1991). Vanwege een actief FMR1- gen op het tweede X-chromosoom zijn de beperkingen bij vrouwen vaak van mildere aard, waarbij leerproblemen en moeilijkheden in de regulatie van sociaal-emotionele vaardigheden het meest voorkomen. Bij mannen heeft de afwezigheid van FMRP grotere consequenties voor het verstandelijk functioneren en het gedrag. Het intellectuele niveau van mannen met FXS komt overeen met een matige tot ernstige verstandelijke beperking (IQ tussen de 30 en 50) en een karakteristiek gedragspatroon, waaronder hypersensitiviteit, stereotype gedragingen (handbijten en/of flapperen met de handen), sociale angst en vermijding van oogcontact (Hagerman & Hagerman, 2002).

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Abitbol, M., Menini, C., Delezoide, A.L., Rhyner, T., Vekemans, M. & Mallet, J. (1993). Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.Nature Genetics, 4, 147–153.PubMedCrossRef

Backes, M., Genc, B., Schreck, J., Doerfler, W., Lehmkuhl, G. & von Gontard, A. (2000). Cognitive and behavioral profile of fragile X boys: correlations to molecular data.American Journal of Medical Genetics, 95, 150–156.PubMedCrossRef

Baker, S., Hooper, S., Skinner, M., Hatton, D., Schaaf, J., Ornstein, P., et al. (2011). Working memory subsystems and task complexity in young boys with Fragile X syndrome.Journal of Intellectual Disability Research, 55, 19–29.PubMedCrossRef

Barry, R.J., Johnstone, S.J. & Clarke, A.R. (2003). A review of electrophysiology in attention-deficit/hyperactivity disorder: II. Event-related potentials.Clinical Neurophysiology, 114, 184–198.

Bertone, A., Hanck, J., Kogan, C., Chaudhuri, A. & Cornish, K. (2010a). Associating neural alterations and genotype in autism and fragile x syndrome: incorporating perceptual phenotypes in causal modeling.Journal of Autism and Developmental Disorders, 40, 1541–1548.CrossRef

Bertone, A., Hanck, J., Kogan, C., Chaudhuri, A. & Cornish, K. (2010b). Using perceptual signatures to define and dissociate conditionspecific neural etiology: autism and fragile X syndrome as model conditions.Journal of Autism and Developmental Disorders, 40, 1531– 1540.CrossRef

Bruneau, N., Roux, S., Adrien, J.L. & Barthelemy, C. (1999). Auditory associative cortex dysfunction in children with autism: evidence from late auditory evoked potentials (N1 wave-T complex).Clinical Neurophysiology, 110, 1927–1934.PubMedCrossRef

Castrén, M., Paakkonen, A., Tarkka, I.M., Ryynanen, M. & Partanen, J. (2003). Augmentation of auditory N1 in children with fragile X syndrome.Brain Topography, 15, 165–171.PubMedCrossRef

Cornish, K. & Munir, F. (2000). Profile of memory and attention problems in adults with fragile-X syndrome: Clinical and educational implications.Journal of Intellectual Disability Research, 44, 247–247.

Cornish, K., Munir, F. & Cross, G. (1999). Spatial cognition in males with Fragile-X syndrome: evidence for a neuropsychological phenotype.Cortex, 35, 263–271.PubMedCrossRef

Cornish, K.M., Turk, J., Wilding, J., Sudhalter, V., Munir, F., Kooy, F., et al. (2004). Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach.Journal of Child Psychology and Psychiatry, 45, 1042–1053.PubMedCrossRef

Dykens, E.M., Hodapp, R.M. & Leckman, J.F. (1987). Strengths and weaknesses in the intellectual functioning of males with fragile X syndrome.American Journal of Mental Deficiency, 92, 234–236.PubMed

Gothelf, D., Furfaro, J.A., Hoeft, F., Eckert, M.A., Hall, S.S., O’Hara, R., et al. (2008). Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP).Annual Neurology, 63, 40–51.CrossRef

Hagerman, R.J. & Hagerman, P.J. (2002).Fragile X syndrome: Diagnosis, treatment, and research (3rd ed.). Baltimore: Johns Hopkins University Press.

Hallahan, B.P., Craig, M.C., Toal, F., Daly, E.M., Moore, C.J., Ambikapathy, A., et al. (2011). In vivo brain anatomy of adult males with Fragile X syndrome: an MRI study.Neuroimage, 54, 16–24.PubMedCrossRef

Hooper, S.R., Hatton, D., Sideris, J., Sullivan, K., Hammer, J., Schaaf, J., et al. (2008). Executive functions in young males with fragile X syndrome in comparison to mental age-matched controls: baseline findings from a longitudinal study.Neuropsychology, 22, 36–47.PubMedCrossRef

Johnson, M.H. (2011). Interactive specialization: a domain-general framework for human functional brain development.Developmental Cognitive Neuroscience, 1, 7–21.PubMedCrossRef

Johnson, M.H., Halit, H., Grice, S. J. & Karmiloff-Smith, A. (2002). Neuroimaging of typical and atypical development: a perspective from multiple levels of analysis.Developmental Psychopathology, 14, 521–536.CrossRef

Kogan, C., Cornish, K., Zangenehpour, S., Bertone, A., Faubert, J. & Chaudhuri, A. (2005). Cortical visual processing impairments in Fragile X Syndrome.Journal of Cognitive Neuroscience, 251–251.

Kogan, C.S., Boutet, I., Cornish, K., Zangenehpour, S., Mullen, K.T., Holden, J.J.A., et al. (2004). Differential impact of the FMR1 gene on visual processing in fragile X syndrome.Brain, 127, 591–601.PubMedCrossRef

Maes, B., Fryns, J.P., Walleghem, M. van & Berghe, H. van den (1994). Cognitive functioning and information processing of adult mentally retarded men with fragile-X syndrome.American Journal of Medical Genetics, 50, 190–200.PubMedCrossRef

Miller, E.K. (2000). The prefrontal cortex and cognitive control.Nature Reviews Neuroscience, 1, 59–65.PubMedCrossRef

Miller, E.K., & Cohen, J.D. (2001). An integrative theory of prefrontal cortex function.Annual Review of Neuroscience, 24, 167–202.PubMedCrossRef

Miller, L.J., McIntosh, D.N., McGrath, J., Shyu, V., Lampe, M., Taylor, A.K., et al. (1999). Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report.American Journal of Human Genetics, 83, 268–279.

Milne, E., Scope, A., Pascalis, O., Buckley, D. & Makeig, S. (2009). Independent component analysis reveals atypical electroencephalographic activity during visual perception in individuals with autism.Biological Psychiatry, 65, 22–30.PubMedCrossRef

Molen, M.J.W van der., Molen, M.W. van der, Ridderinkhof, K.R., Hamel, B.C.J., Curfs, L.M.G. & Ramakers, G.J.A. (in druk-a). Auditory and visual cortical activity during selective attention in fragile X syndrome: A cascade of processing deficiencies.Clinical Neurophysiology.

Molen, M.J.W van der., Molen, M.W. van der, Ridderinkhof, K.R., Hamel, B.C.J., Curfs, L.M.G. & Ramakers, G.J.A. (in druk-b). Auditory change detection in fragile X syndrome males: A brain potential study.Clinical Neurophysiology.

Molen, M.J.W. van der, Huizinga, M., Huizenga, H.M., Ridderinkhof, K.R.,Molen, M. W. van der , Hamel, B.J.C., et al. (2010). Profiling Fragile X Syndrome in males: strengths and weaknesses in cognitive abilities.Research in Developmental Disabilities, 31, 426–439.PubMedCrossRef

Munir, F., Cornish, K.M. & Wilding, J. (2000). A neuropsychological profile of attention deficits in young males with fragile X syndrome.Neuropsychologia, 38, 1261–1270.PubMedCrossRef

Oostra, B.A., & Chiurazzi, P. (2001). The fragile X gene and its function.Clinical Genetics, 60, 399–408.PubMedCrossRef

Pekkonen, E., Osipova, D., Sauna-Aho, O. & Arvio, M. (2007). Delayed auditory processing underlying stimulus detection in Down syndrome.Neuroimage, 35, 1547–1550.PubMedCrossRef

Pfeiffer, B.E. & Huber, K.M. (2009). The state of synapses in fragile X syndrome.Neuroscientist, 15, 549–567.PubMedCrossRef

Scerif, G., Longhi, E., Cole, V., Karmiloff-Smith, A. & Cornish, K. (2011). Attention across modalities as a longitudinal predictor of early outcomes: the case of fragile X syndrome.Journal of Child Psychology and Psychiatry.

Stauder, J.E., Brinkman, M.J., & Curfs, L. M. (2002). Multi-modal P3 deflation of event-related brain activity in Prader-Willi syndrome.Neuroscience Letters, 327, 99–102.PubMedCrossRef

Stauder, J.E., Smeets, E.E., Mil, S.G. van & Curfs, L.G. (2006). The development of visual- and auditory processing in Rett syndrome: an ERP study.Brain and Development, 28, 487–494.PubMedCrossRef

Verkerk, A.J., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P., Pizzuti, A., et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.Cell, 65, 905–914.PubMedCrossRef

Wassenhove, V. Vvn , Grant, K.W. & Poeppel, D. (2005). Visual speech speeds up the neural processing of auditory speech.Proceedings of the National Academy of Sciences of the United States of America, 102, 1181–1186.PubMedCrossRef

Zangenehpour, S., Cornish, K M. & Chaudhuri, A. (2009). Whole-brain expression analysis of FMRP in adult monkey and its relationship to cognitive deficits in fragile X syndrome.Brain Research, 1264, 76–84.PubMedCrossRef

Titel: Het fragiele-X-syndroom: cognitieve vaardigheden en onderliggende problemen in de informatieverwerking
Auteur: Dr. M. J. W. Molen
Publicatiedatum: 01-04-2012
Uitgeverij: Bohn Stafleu van Loghum
Gepubliceerd in: Neuropraxis / Uitgave 2/2012
Print ISSN: 1387-5817
Elektronisch ISSN: 1876-5785
DOI: https://doi.org/10.1007/s12474-012-0009-1

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