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Mind and brain in Rett disorder

      Abstract

      Development and retention of speech is reported in 265 people with Rett syndrome: 30% (80) never gained real words, 55% (145) gained real words and lost them, 15%(40) retained some words and 6% of the total (16/265) continued to use phrases appropriately. Morphological studies of the cytoarchitecture of the speech areas in 14 cases indicate the existence of interhemispheric differences which form part of the infrastructure for speech processing. Ten adults with Rett syndrome and with meaningful speech are compared to age matched adults without speech. The profile of mind and strategies for coping with its problems are described by a family. Although the range in severity is wide the mental profile is remarkably consistent across the severity range with regard to both positive and negative aspects.

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      References

        • Rett A.
        Uber ein eigenartiges hirnatrophisches Syndrome bei hyperammonamie im Kindsalter.
        Wiener Medizinische Wochenschrift. 1966; 116: 723-726
        • Ishikawa A.
        • Goto T.
        • Narasaki M.
        • Yokochi K.
        • Kitahara H.
        • Fukuyama Y.
        A new syndrome (?) of progressive psychomotor deterioration with peculiar stereotyped movement and autistic tendency: a report of three cases.
        Brain Dev. 1978; 3: 258
        • Hagberg B.
        • Aicardi J.
        • Dias K.
        • Ramos O.
        A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.
        Ann Neurol. 1983; 14: 471-4479
        • Nomura Y.
        • Segawa M.
        • Hasegawa M.
        Rett syndrome – clinical studies and pathophysiological considerations.
        Brain Dev. 1984; 6: 475-486
        • Percy A.
        • Zoghbi H.
        • Riccardi V.
        Rett syndrome; initial experience with an emerging clinical entity.
        Brain Dev. 1985; 7: 300-304
        • Diagnostic Criteria Working Group
        Diagnostic criteria for Rett syndrome.
        Ann Neurol. 1988; 23: 425-428
        • Naidu S.
        • Hyman S.
        • Harris E.L.
        • Narayanan V.
        • Johns D.
        • Castora K.
        Rett syndrome studies of natural history and search for a genetic marker.
        Neuropediatrics. 1995; 26: 63-66
        • Kerr A.M.
        Rett syndrome British longitudinal study (1982–1990) and 1990 survey (1992b).
        in: Roosendaal J.J. Mental retardation and medical care, April 21–24, 1991. Uitgeverij Kerckbosch. Zeis, Den Haag1992: 143-145 (ISBN 9067201219)
        • Ogawa A.
        • Mitsudome A.
        • Yasumoto S.
        • Matsumoto T.
        Japanese monozygotic twins with Rett syndrome.
        Brain Dev. 1997; 19: 568-570
        • Armstrong D.D.
        The neuropathology of the Rett syndrome.
        Brain Dev. 1992; 14: 89-98
        • Armstrong D.D.
        The neuropathology of Rett syndrome – overview 1994.
        Neuropediatrics. 1995; 26: 100-104
        • Armstrong D.
        • Dunn J.K.
        • Antalffy B.
        • Trivedi R.
        Selective dendritic alterations in the cortex of Rett syndrome.
        J Neuropathol Exp Neurol. 1995; 54: 195-201
        • Kaufmann W.E.
        • Taylor C.V.
        • Hohmann C.F.
        • Sanwal I.B.
        • Naidu S.
        Abnormalities in neuronal maturation in Rett syndrome neocortex: preliminary molecular correlates.
        Eur Child Adolesc Psychiatry. 1997; 6: 75-77
        • Amir R.E.
        • Van den Veyver I.
        • Wan M.
        • Tran C.Q.
        • Franke U.
        • Zoghbi H.
        Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl CpG binding protein 2.
        Nat Genet. 1999; 23: 670-679
        • Wan M.
        • Lee S.S.J.L.
        • Zhang X.
        • Houwink-Manville I.
        • Song H-R.
        • Amir R.E.
        • et al.
        Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
        Am J Hum Genet. 1999; 65: 1520-1529
        • Cheadle J.P.
        • Gill H.
        • Fleming N.
        • Maynard J.
        • Kerr A.
        • Leonard H.
        • et al.
        Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
        Hum Mol Genet. 2000; 9: 1119-1129
        • Vacca M.
        • Filippini F.
        • Budillon A.
        • Rossi V.
        • Mercadante G.
        • Manzati E.
        • et al.
        Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
        J Mol Med. 2001; 78: 648-655
        • Von Tetzchner S.
        • Jacobsen K.H.
        • Smith L.
        • Skjeldal O.H.
        • Heiberg A.
        • Fagan J.F.
        Vision, cognition and developmental characteristics of girls and women with Rett syndrome.
        Dev Med Child Neurol. 1996; 38: 212-225
        • Woodyatt G.C.
        • Ozanne A.
        Communication abilities and Rett syndrome.
        J Autism. 1992; 22: 155-173
        • Skjeldal O.H.
        • von Tetzchner S.
        • Jacobsen K.
        • Smith L.
        • Heiberg A.
        Rett syndrome – distribution of phenotypes with special attention to the preserved speech variant.
        Neuropediatrics. 1995; 26: 87
        • Zappella M.
        The preserved speech variant of the Rett complex: a report of 8 cases.
        Eur Child Adolesc Psychiatry. 1997; 6: 23-25
        • Von Tetzchner S.
        Communication skills among females with Rett syndrome.
        Eur Child Adolesc Psychiatry. 1997; 6: 33-37
        • Zappella M.
        The Rett girls with preserved speech.
        Brain Dev. 1992; 14: 98-101
        • Kerr A.M.
        Early clinical signs in the Rett disorder.
        Neuropediatrics. 1995; 26: 67-71
        • Schlaug G.
        • Knorr U.
        • Seitz R.
        Inter-subject variability of cerebral activations in acquiring a motor skill: a study with positron emission tomography.
        Exp Brain Res. 1994; 98: 523-534
        • Bonda E.
        • Frey S.
        • Petrides M.
        Evidence for a dorso-medial parietal system involved in mental transformations of the body.
        J Neurophysiol. 1996; 76: 2042-2048
        • Mildner V.
        Is the hand to speech what speech is to the hand?.
        Brain Cogn. 2000; 43: 345-349
        • Perry D.W.
        • Zatorre R.J.
        • Petrides M.
        • Alivisatos B.
        • Meyer E.
        • Evans A.C.
        Localization of cerebral activity during simple singing.
        Neuroreport. 1999; 10: 3979-3984
        • Johnson M.D.
        • Ojemann G.A.
        The role of the human thalamus in language and memory: evidence from electrophysiological studies.
        Brain Cogn. 2000; 42: 218-230
        • Leontovich T.A.
        • Mukhina J.K.
        • Fedorov A.A.
        • Belichenko P.V.
        Morphological study of the entorhinal cortex, hippocampal formation and basal ganglia in Rett syndrome.
        Neurobiol Dis. 1999; 6: 77-91
        • Belichenko P.V.
        • Khrenov A.I.
        • Selin S.V.
        • Mukhina Y.K.
        • Berezhnaya L.A.
        • Leontovich T.A.
        Rett syndrome: morphological study of the neocortex, entorhinal cortex, hippocampal formation, basal ganglia, thalamus and brain stem.
        Abstract Soc Neurosci. 1999; 25: 488
        • Belichenko P.V.
        The morphological substrate for communication.
        in: Kerr A.M. Witt Engerstrom I. Rett disorder and the developing brain. Oxford University Press, Oxford2001
        • Belichenko P.V.
        • Fedorov A.A.
        • Dahlstrom A.
        Quantitative analysis of immunofluorescence and lipofuscin distribution in human cortical areas by dual- channel confocal laser scanning microscopy.
        J Neurosci Methods. 1996; 69: 155-161
        • Leonard H.
        • Bower C.
        Is the girl with Rett syndrome normal at birth?.
        Dev Med Child Neurol. 1998; 40: 115-121
        • Witt Engerstrom I.
        Rett syndrome: a retrospective pilot study of potential early predictive symptomatology.
        Brain Dev. 1987; 9: 481-486
        • Kerr A.
        • Montague J.
        • Stephenson J.B.P.
        The hands, and the mind, pre-and post-regression in Rett syndrome.
        Brain Dev. 1987; 9: 487-490
        • Kerr A.M.
        • Armstrong D.D.
        • Prescott R.J.
        • Doyle D.
        • Kearney D.L.
        Analysis of deaths in the British Rett Survey.
        Eur Child Adolesc Psychiatry. 1997; 6: 71-74
        • Kerr A.
        • Witt Engerstrom I.
        The clinical background to the Rett disorder.
        in: Kerr A.M. Witt Engerstrom I. Rett disorder and the developing brain. Oxford University Press, Oxford2001
        • Schanen C.
        • Franke U.
        A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.
        Am J Hum Genet. 1998; 63: 267-269
        • Burford B.
        • Trevarthen C.
        Evoking communication in Rett syndrome: comparisons with conversations and games in mother-infant interaction.
        Eur Child Adolesc Psychiatry. 1997; 6: 26-30
        • Trevarthen C.
        • Burford B.
        Early infant intelligence and Rett syndrome.
        in: Kerr A.M. Witt Engerstrom I. Rett disorder and the developing brain. Oxford University Press, Oxford2001
        • Merker B.
        • Wallin N.L.
        Musical responsiveness in the Rett disorder.
        in: Kerr A.M. Witt Engerstrom I. Rett disorder and the developing brain. Oxford University Press, Oxford2001
        • Kerr A.M.
        Report on the Rett syndrome Workshop: Glasgow Scotland, 24–25 May 1986.
        J Mental Deficiency Res. 1987; 31: 93-113
        • Julu P.O.O.
        • Kerr A.M.
        • Hansen S.
        • Apartopoulos F.
        • Al-Rawas S.
        • Witt Engerstrom I.
        • et al.
        Characterisation of the breathing and autonomic abnormality in Rett syndrome.
        Arch Dis Child. 2001; 85: 29-37
        • Julu P.O.O.
        The central autonomic disturbance in Rett syndrome.
        in: Kerr A.M. Witt Engerstrom I. Rett disorder and the developing brain. Oxford University Press, Oxford2001
        • Segawa M.
        The role of genetic and developmental factors in brain development: development of the central monoaminergic nervous system.
        in: Kerr A.M. Witt Engerstrom I. Rett disorder and the developing brain. Oxford University Press, 2000: in press
        • Nomura Y.
        • Segawa M.
        The monoamine hypothesis in Rett syndrome.
        in: Kerr A.M. Witt Engerstrom I. Rett disorder and the developing brain. Oxford University Press, Oxford2001
        • Barton R.A.
        • Harvey P.H.
        Mosaic evolution of brain structure in mammals.
        Nature. 2000; 405: 1055-1058
        • Keverne E.
        • Martel F.
        • Nevison C.
        Primate brain evolution: genetic functional considerations.
        Proc R Soc Lond. 1996; 262: 689-696
        • Keverne E.
        • Fundele R.
        • Narasimha M.
        • Barton S.C.
        • Surani M.
        Genetic imprinting and the differential roles of parental genomes in brain development.
        Brain Dev Res. 1996; 92: 91-100