Rett syndrome from a family perspective: The Swedish Rett Center survey


      The aim of this study was to make a description of the early development in individuals with the diagnosis Rett syndrome using parents' information. Information received from 125 cases of Rett syndrome in Sweden in 1997 provided us with families' description of early development in gross motor function, fine motor function and communication/social interplay. Best abilities before regression were presented, 62% lost their best abilities, 22% kept them and 5% kept them with deterioration. Seventy-three percent learnt to walk, 20% stopped walking and 2% retrained walking. Concerning feeding, 69% learnt to feed themselves, 57% lost this ability, 7% retrained the ability and 5% learnt to feed after regression. Sixty-four percent were one year or younger when there was a deviation in development. Sixty answers reported the girl was late in developing functions while 35 reported sudden loss of reached abilities. Seventy-four percent developed a scoliosis and 83% reported other deformities; of these, deformities in feet were the most common. Postural control was poor since all but 15 girls/women leant in different directions when sitting. Transitional movements were difficult to perform. In 80% of cases, the families were those who suspected early that something was wrong in the child's development. Because of this it is essential that medical staff is aware of the different ways RS develops in order to give families early appropriate support and a plan for intervention. Since there is not only loss of function in this group but also kept abilities, retrained abilities and abilities achieved after regression, more research has to be focused on management and treatment to help persons with Rett syndrome keep and develop abilities according to their individual resources.


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        • Armstrong D.D.
        Rett syndrome neuropathology review 2001.
        Brain Dev. 2001; 23: S72-S76
        • Segawa M.
        Pathophysiology of Rett syndrome from the standpoint of clinical characteristics.
        Brain Dev. 2001; 23: S94-S98
        • Julu P.O.O.
        • Kerr A.M.
        • Apartopoulos F.
        • Al-Rawas S.
        • Witt Engerström I.
        • Engerström L.
        • et al.
        Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder.
        Arch Dis Child. 2001; 85: 29-37
        • Kerr A.M.
        • Belichenko P.
        • Woodcock T.
        • Woodcock M.
        Mind and brain in Rett disorder.
        Brain Dev. 2001; 23: S44-S49
        • Hagberg B.
        • Witt Engerström I.
        Rett syndrome: epidemiology and nosology—progress in knowledge 1986—a conference communication.
        Brain Dev. 1987; 9: 451-457
        • Hagberg B.
        • Hagberg G.
        Rett syndrome: epidemiology and geographical variability.
        Eur Child Adolesc Psychiatry. 1997; 6: 5-7
        • Leonard H.
        • Bower C.
        • English D.
        The prevalence and incidence of Rett syndrome in Australia.
        Eur Child Adolesc Psychiatry. 1997; 6: 8-10
        • Kerr A.M.
        • Witt Engerström I.
        The clinical background to the Rett disorder.
        in: Kerr A.M. Witt Engerströ I. Rett disorder and the developing brain. Oxford University Press, Oxford2001: 1-26
        • Ellaway C.
        • Christodoulou J.
        Rett syndrome: clinical characteristics and recent genetic advances.
        Disabil Rehabil. 2001; 23: 98-106
        • Schanen C.
        Rethinking the fate of males with mutations in the gene that causes Rett syndrome.
        Brain Dev. 2001; 23: S144-S146
        • Moog U.
        • Smeets E.E.J.
        • van Roozendaal K.E.P.
        • Schoenmakers S.
        • Herbergs J.
        • Schoonbrood-Lenssen A.M.J.
        • et al.
        Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
        Eur J Paediatr Neurol. 2003; 7: 5-12
        • Ravn K.
        • Nielsen J.B.
        • Uldall P.
        • Hansen F.J.
        • Schwartz M.
        No correlation between phenotype and genotype in boys with a truncating MECP2 mutation.
        J Med Genet. 2003; 40: e5
        • Amir R.E.
        • Van den Veyver I.B.
        • Wan M.
        • Tran C.Q.
        • Francke U.
        • Zoghbi H.Y.
        Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
        Nat Genet. 1999; 23: 185-188
        • Sung Jae Lee S.
        • Wan M.
        • Francke U.
        Spectrum of MECP2 mutations in Rett syndrome.
        Brain Dev. 2001; 23: S138-S146
        • Trappe R.
        • Laccone F.
        • Cobilanschi J.
        • Meins M.
        • Huppke P.
        • Hanefeld F.
        • et al.
        MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
        Am J Hum Genet. 2001; 68: 1093-1101
        • Diagnostic Criteria Working Group
        Diagnostic criteria for Rett syndrome.
        Ann Neurol. 1988; 23: 425-428
        • Witt-Engerström I.
        Rett syndrome: a retrospective pilot study on potential early predictive symptomatology.
        Brain Dev. 1987; 9: 481-486
        • Charman T.
        • Cass H.
        • Owen L.
        • Wigram T.
        • Slonims V.
        • Weeks L.
        • et al.
        Regression in individuals with Rett syndrome.
        Brain Dev. 2002; 24: 281-283
        • Hagberg B.
        • Witt Engerström I.
        Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence.
        Am J Med Genet. 1986; 24: 47-59
        • Nomura Y.
        • Segawa M.
        Clinical features of the early stage of the Rett syndrome.
        Brain Dev. 1990; 12: 16-19
        • Witt Engerström I.
        Age-related occurrence of signs and symptoms in the Rett syndrome.
        Brain Dev. 1992; 14: S11-S20
        • Budden S.S.
        Rett syndrome: habilitation and management reviewed.
        Eur Child Adolesc Psychiatry. 1997; 6: 103-107
        • Leonard H.
        • Fyfes S.
        • Leonard S.
        • Msall M.
        Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective.
        Disabil Rehabil. 2001; 23: 107-117
        • Cass H.
        • Reilly S.
        • Owen L.
        • Wisbeach A.
        • Weekes L.
        • Slonims V.
        • et al.
        Findings from a multidisciplinary clinical case series of females with Rett syndrome.
        Dev Med Child Neurol. 2003; 45: 325-337
        • Leonard H.
        • Bower C.
        Is the girl with Rett syndrome normal at birth?.
        Dev Med Child Neurol. 1998; 40: 115-121
        • Witt-Engerström I.
        • Hagberg B.
        The Rett syndrome: gross motor disability and neural impairment in adults.
        Brain Dev. 1990; 12: 23-26
        • Hanks S.B.
        Motor disabilities in the Rett syndrome and physical therapy strategies.
        Brain Dev. 1990; 12: 157-161
        • Hennessy M.J.
        • Haas R.H.
        The orthopedic management of Rett syndrome.
        J Child Neurol. 1988; 3: S43-S48
        • Guidera K.J.
        • Borelli J.
        • Raney E.
        • Thompson-Rangel T.
        • Ogden J.A.
        Orthopaedic manifestations of Rett syndrome.
        J Paediatr Orthop. 1991; 11: 204-208
        • Larsson G.
        • Witt Engerström I.
        Gross motor ability in Rett syndrome—the power of expectation, motivation and planning.
        Brain Dev. 2001; 23: S77-S81
        • Hopkins B.
        • Rönnqvist L.
        Human handedness: developmental and evolutionary perspectives.
        in: Simion F. Butterworth G. The development of sensory, motor and cognitive capacities in early infancy: from erception to cognition. Psychology Press, Hove1998: 191-236
        • Umansky R.
        • Watson J.S.
        • Colvin L.
        • Fyfe S.
        • Leonard S.
        • de Klerk N.
        • et al.
        Hand preference, extent of laterality, and functional hand use in Rett syndrome.
        J Child Neurol. 2003; 18: 481-487
        • Schultz R.
        • Glaze D.
        • Motil K.
        • Herbert D.
        • Percy A.
        Hand and foot growth failure in Rett syndrome.
        J Child Neurol. 1998; 13: 71-74
        • Pillion J.P.
        • Rawool V.W.
        • Bibat G.
        • Naidu S.
        Prevalence of hearing loss in Rett syndrome.
        Dev Med Child Neurol. 2003; 45: 338-343
        • Saunders K.J.
        • McCulloch D.L.
        • Kerr A.M.
        Visual function in Rett syndrome.
        Dev Med Child Neurol. 1995; 37: 496-504