Skip to main content
SpringerLink
Log in

Rett syndrome: A review of current knowledge

  • Published:
Journal of Autism and Developmental Disorders Aims and scope Submit manuscript

Abstract

Rett syndrome was first described in 1966 by Andreas Rett. To date, this syndrome has been reported only to afflict females. The disorder is characterized by a progressive loss of cognitive and motor skills as well as the development of stereotypic hand movements, occurring after an apparently normal 6 to 18 months of development. Although Rett syndrome is thought to afflict as many as 10,000 girls in the United States, fewer than 1,200 have been identified thus far. A lack of awareness of this disorder is thought to play a critical role in the failure to differentially diagnose this syndrome. The present article presents a review of our current knowledge concerning this disorder. Information is provided related to the clinical manifestations, etiology, prevalence, pathogenesis, and treatment of the Rett syndrome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Adkins, W. N. (1986). Rett syndrome at an institution for the developmentally disabled.American Journal of Medical Genetics, 24(Suppl. 1), 85–97.

    Google Scholar 

  • Allen, D. A. (1988). Autistic spectrum disorders: Clinical presentation in preschool children.Journal of Child Neurology, 3(Suppl.), S48-S56.

    Google Scholar 

  • Aron, M. (1990). The use and effectiveness of elbow splints in the Rett syndrome.Brain and Development, 12, 162–163.

    Google Scholar 

  • Bangs, T., & Dodson, S. (1979).Birth to Three Developmental Scale. Hingham, MA: Teaching Resources Corp.

    Google Scholar 

  • Berkson, G. (1987, August).Three approaches to an understanding of abnormal stereotyped behaviors. Paper presented at the American Psychological Association, New York.

  • Brucke, T., Sofic, E., Killian, W., Rett, A., & Riederer, P. (1988). Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett syndrome: A postmortem brain study.Journal of Neutral Transmission, 68, 315–324.

    Google Scholar 

  • Budden, S. S. (1986). Rett syndrome: Studies of 13 affected girls.American Journal of Medical Genetics, 24(Suppl. 1), 99–109.

    Google Scholar 

  • Budden, S. S. (1987). The role of the physician in the care of the child with Rett syndrome.Brain and Development, 9, 532–534.

    Google Scholar 

  • Burd, L., Fisher, W., & Kerbeshian, J. (1989). Pervasive disintegrative disorder: Are Rett syndrome and Heller dementia infantilis subtypes?Developmental Medical Child Neurology, 31, 609–616.

    Google Scholar 

  • Charnov, E. K., Stach, B. A. Didonato, R. M. (1989, November).Pre and post onset developmental levels in Rett syndrome. Paper presented at the American Speech-Language-Hearing Association Convention.

  • Clare, A. J. (1986).Rett syndrome: Behind their eyes is more than they can show us. Dissertation, Thames Polytechnic Incorporating Avery Hill College, Kent, U.K.

    Google Scholar 

  • Clarke, A., Gardner, Medwin, D., Richardson, J. McGann, A., Bonham, J. R., Carpenter, K. H., Bhattacharya, S., Haggerty, D., Fleetwood, J. A., & Aynsley-Green, A. (1990). Abnormalities of carbohydrate metabolism and of OCT gene function in the Rett syndrome.Brain and Development, 12, 119–124.

    Google Scholar 

  • Coleman, M. (1990). Is classical Rett syndrome ever present in males?Brain and Development, 12, 31–32.

    Google Scholar 

  • Coleman, M., & Gillberg, C. (1985).The biology of autistic syndromes (pp. 45–50). New York: Praeger.

    Google Scholar 

  • Comings, D. E. (1986). The genetics of Rett syndrome: The consequences of a disorder where every case is a new mutation.American Journal of Medical Genetics, 24(Suppl. 1), 383–388.

    Google Scholar 

  • Donnellan, A. M., Mirenda, P. L., Mesaros, R. A., Fassbender, L. L. (1984). Analyzing the communicative functions of aberrant behavior.Journal of the Association for Persons with Severe Handicaps, 9, 201–212.

    Google Scholar 

  • Fontanesi, J., & Haas, R. H. (1988). Cognitive profile of Rett syndrome.Journal of Child Neurology, 3(Suppl.), S20-S24.

    Google Scholar 

  • Gillberg, C. (1986). Autism and Rett syndrome: Some notes on differential diagnosis.American Journal of Medical Genetics, 24(Suppl. 1), 127–131.

    Google Scholar 

  • Gillberg, C. (1987). Autistic symptoms in Rett syndrome: The first two years according to mother reports.Brain and Development, 9, 499–501.

    Google Scholar 

  • Gillberg, C. (1989). The borderland of autism and Rett syndrome: Five case histories to highlight diagnostic difficulties.Journal of Autism and Developmental Disorders, 19, 545–559.

    Google Scholar 

  • Gillberg, C., Wahlstrom, J., & Hagberg, B. (1984). Infantile autism and Rett's syndrome: Common chromosomal denominator.Lancet, 2, 1094–1095.

    Google Scholar 

  • Gillberg, C., Wahlstrom, J., & Hagberg, B. (1985). A “new” chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X P22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome.Brain and Development, 7, 365–367.

    Google Scholar 

  • Goutieres, F., & Aicardi, J. (1985). Rett syndrome: Clinical presentation and laboratory investigations in 12 further French patients.Brain and Development, 7, 305–306.

    Google Scholar 

  • Haas, R., & Rice, M. L. A. (1985). Is Rett's syndrome a disorder of carbohydrate metabolism? Hyperpyruvic acidemia and treatment by ketogenic diet.Annals of Neurology, 18, 418.

    Google Scholar 

  • Haas, R. H., Rice, M. A., Trauner, D. A., & Merritt, A. (1986). Therapeutic effects of a ketogenic diet in Rett syndrome.American Journal of Medical Genetics, 24(Suppl. 1), 225–246.

    Google Scholar 

  • Hagberg, B. (1985). Rett syndrome: Swedish approach to analysis of prevalence and cause.Brain and Development, 7, 277–280.

    Google Scholar 

  • Hagberg, B., Aicardi, J., Dias, K., & Ramos, O. (1983). A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett syndrome: Report of 35 cases.Annals of Neurology, 14, 471–479.

    Google Scholar 

  • Hagberg, B., Goutieres, F., Hanefeld, F., Rett, A., & Wilson, J. (1985). Rett syndrome: Criteria for inclusion and exclusion.Brain and Development, 7, 372–373.

    Google Scholar 

  • Hagberg, B., & Witt-Engerstrom, I. (1986). Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence.American Journal of Medical Genetics, 24(Suppl. 1), 47–59.

    Google Scholar 

  • Hanaoka, S., Ishikawa, N., & Kamoshita, S. (1985). Three cases of Rett syndrome. In S. Kamoshita (Ed.),Abstracts for the workshop on Aicardi syndrome and Rett syndrome. Tokyo: Dainippon Tosho.

    Google Scholar 

  • Hanefeld, F. (1985). The clinical pattern of the Rett syndrome.Brain and Development, 7, 320–325.

    Google Scholar 

  • Hanefeld, F., Hanefeld, U., Wilichowski, E., & Schmidtke, J. (1986). Rett syndrome—Search for genetic markers.American Journal of Medical Genetics, 24(Suppl. 1), 377–382.

    Google Scholar 

  • Hanks, S. B. (1986). The role of therapy in Rett syndrome.American Journal of Medical Genetics, 24(Suppl. 1), 247–252.

    Google Scholar 

  • Hanks, S. B. (1989, May).Motor disabilities and physical therapy strategies in Rett syndrome. Paper presented at the 5th Annual Conference of the International Rett Syndrome Association. Washington, D.C.

  • Hanks, S. (1990). Motor disabilities in the Rett syndrome and physical therapy strategies.Brain and Development, 12, 157–161.

    Google Scholar 

  • Harding, B. N., Tudmay, A. J., & Wilson, J. (1985). Neuropathological studies in a child showing some features of the Rett syndrome.Brain and Development, 7, 342–344.

    Google Scholar 

  • Harris, J. C., Wong, D. F., Wagner, H. N., Rett, A., Naidu, S., Dannals, R. F., Links, J. M., Batshaw, M. L., & Moser, H. W. (1986). Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in Rett syndrome.American Journal of Medical Genetics, 24(Suppl. 1), 201–210.

    Google Scholar 

  • Harrison, D. J., & Webb, P. J. (1990). Scoliosis in the Rett syndrome: Natural history and treatment.Brain and Development, 12, 154–156.

    Google Scholar 

  • Havlak, C., & Covington, C. (1989). Motor function: Physical and occupational therapy strategies. InEducation and therapeutic intervention in Rett syndrome. Ft. Washington, MD: International Rett Syndrome Association.

    Google Scholar 

  • Hennessy, M. J., & Haas, R. H. (1988). The orthopedic management of Rett syndrome.Journal of Child Neurology, 3(Suppl.), S43-S47.

    Google Scholar 

  • Hillig, U. (1985). On the genetics of the Rett syndrome.Brain and Development, 7, 368–371.

    Google Scholar 

  • Holm, V. A. (1985). Rett syndrome: A case report from an audiovisual program.Brain and Development, 7, 297–299.

    Google Scholar 

  • Hunter, K. (1987). Rett syndrome: Parents' views about specific symptoms.Brain and Development, 9, 535–538.

    Google Scholar 

  • Hutt, M. L., & Gibby, P. G. (1976).The mentally retarded child: Development, education, and treatment. New York: Allyn and Bacon.

    Google Scholar 

  • International Rett Syndrome Association. (1990).Parent Idea Book: Managing Rett Syndrome. Ft. Washington, MD: Author.

    Google Scholar 

  • Ishikawa, A., Goto, T., Narasaki, M., Yokochi, K., Kitahara, H., & Fukuyama, Y. (1978). A new syndrome (?) of progressive psychomotor deterioration with peculiar stereotyped movement and autistic tendency: A report of three cases.Brain and Development, 3, 258.

    Google Scholar 

  • Iwata, B. A., Pace, G. M., Willis, K. D., Gamache, T. B., & Hyman, S. L. (1986). Operant studies of self-injurious hand biting in the Rett syndrome.American Journal of Medical Genetics, 24, 157–166.

    Google Scholar 

  • Jellinger, K., & Seiteberger, F. (1986). Neuropathology of Rett syndrome.American Journal of Medical Genetics, 24(Suppl. 1), 259–288.

    Google Scholar 

  • Kerr, A. M., Montague, J., & Stephenson, J. B. P. (1987). The hands, and the mind, pre- and postregression, in Rett syndrome.Brain and Development, 9, 487–490.

    Google Scholar 

  • Kerr, A., Southall, D., Amos, P., Copper, R., Samuels, M., Mitchell, J., & Stephenson, J. (1990). Correlation of electroencephalogram, respiration, and movement in the Rett syndrome.Brain and Development, 12, 61–68.

    Google Scholar 

  • Kerr, A., & Stephenson, J. B. P. (1986). A study of the natural history of Rett syndrome in 23 girls.American Journal of Medical Genetics, 24, 77–83.

    Google Scholar 

  • Killian, W. (1986). On the genetics of Rett syndrome: Analysis of family and pedigree data.American Journal of Medical Genetics, 24(Suppl. 1), 369–376.

    Google Scholar 

  • Kjoerholt, K., & Salthammer, E. (1989). Kjoerholt Salthammer Fysioterapi. InEducational and therapeutic intervention in Rett syndrome. Ft. Washington, MD: International Rett Syndrome Association.

    Google Scholar 

  • Leiber, B. (1985). Rett syndrome: A nosological entity.Brain and Development, 7, 275–276.

    Google Scholar 

  • Lekman, A., Witt-Engerstrom, I., Gottfries, J., Hagberg, B. A., Percy, A. K., & Svennerholm, L. (1989). Rett syndrome: Biogenic amines and metabolites in postmortem brain.Pediatric Neurology, 5, 357–362.

    Google Scholar 

  • Lewis, M., Alessandri, S. M., & Sullivan, M. W. (1990).Expectancy, loss of control, and anger expression in young infants. Report of the Institute for the Study of Child Development. Robert Wood Johnson Medical School Department of Pediatrics, New Brunswick, NJ.

    Google Scholar 

  • Lieb-Lundell, C. (1988). The therapist's role in the management of girls with Rett syndrome.Journal of Child Neurology, 3(Suppl.), S31-S34.

    Google Scholar 

  • Loder, R. T., Lee, C. L., & Richards, B. S. (1989). Orthopedic aspects of Rett syndrome: A multicenter review.Journal of Pediatric Orthopedics, 9, 557–562.

    Google Scholar 

  • Lloyd, K. G., Hornykiewicz, O., Davidson, L., Shannak, K., Farley, I., Goldstein, M., Sibuya, M., Kelly, W. N., & Fox, I. H. (1981). Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.New England Journal of Medicine, 305, 1106–1111.

    Google Scholar 

  • Missliwetz, J., & Depastas, G. (1985). Forensic problems in Rett syndrome.Brain and Development, 7, 326–328.

    Google Scholar 

  • Moser, H. W. (1986). Preamble to the workshop on Rett syndrome.American Journal of Medical Genetics, 24(Suppl. 1), 1–20.

    Google Scholar 

  • Naganuma, G. (1988). Motor function: Physical therapy strategies. InEducational and therapeutic intervention in Rett syndrome. Ft. Maryland, MD: International Rett Syndrome Association.

    Google Scholar 

  • Naidu, S., Hyman, S., Piazza, K., Savedra, J., Perman, J., Wenk, G., Kitt, C., Troncoso, J., Price, D., Cassanova, M., Miller, D., Thomas, G., Niedermeyer, E., & Moser, H. (1990). The Rett syndrome: Progress report on studies at the Kennedy Institute.Brain and Development, 12, 5–7.

    Google Scholar 

  • Naidu, S., Murphy, M., Moser, H. W., & Rett, A. (1986). Rett syndrome: Natural history in 70 cases.American Journal of Medical Genetics, 24(Suppl. 1), 61–72.

    Google Scholar 

  • Niedermeyer, E., Rett., A., Renner, H., Murphy, M., & Naidu, S. (1986). Rett syndrome and the electroencephalogram.American Journal of Medical Genetics, 24(Suppl. 1), 195–200.

    Google Scholar 

  • Nomura, Y., & Segawa, M. (1990). Clinical features of the early stage of the Rett syndrome.Brain and Development, 12, 16–19.

    Google Scholar 

  • Nomura, Y., Segawa, M., & Hasegawa, M. (1984). Rett syndrome—Clinical studies and pathophysiological consideration.Brain and Development, 6, 475–486.

    Google Scholar 

  • Nomura, Y., Segawa, M., & Higurashi, M. (1985). Rett syndrome—An early catecholamine and indolamine deficient disorder?Brain and Development, 7, 334–341.

    Google Scholar 

  • Olsson, B. (1987). Autistic traits in the Rett syndrome.Brain and Development, 9, 491–498.

    Google Scholar 

  • Olsson, B., & Rett, A. (1985). Behavioral observations concerning differential diagnosis between the Rett syndrome and autism.Brain and Development, 7, 281–289.

    Google Scholar 

  • Olsson, B., & Rett, A. (1987). Autism and Rett syndrome: Behavioral investigations and differential diagnosis.Developmental Medicine and Child Neurology, 29, 429–441.

    Google Scholar 

  • Olsson, B., & Rett, A. (1990). A review of the Rett syndrome with a theory of autism.Brain and Development, 12, 11–15.

    Google Scholar 

  • Opitz, J. M., & Lewin, S. (1987). Rett syndrome—A review and discussion of syndrome delineation.Brain and Development, 9, 445–450.

    Google Scholar 

  • Owen, V. E. (1990).The use of a total communication intervention to examine the communication skills in girls with Rett syndrome. Unpublished doctoral dissertation, University of Illinois at Chicago.

    Google Scholar 

  • Percy, A. K., Zoghbi, H. Y., Lewis, K. R., & Jankovic, J. (1988). Rett syndrome: Qualitative and quantitative differentiation from autism.Journal of Child Neurology, 3(Suppl.), S65-S67.

    Google Scholar 

  • Percy, A. K., Zoghbi, H., & Riccardi, V. M. (1985). Rett syndrome: Initial experience with an emerging clinical entity.Brain and Development, 7, 300–304.

    Google Scholar 

  • Philippart, M. (1986). Clinical recognition of Rett syndrome.American Journal of Medical Genetics, 24(Suppl. 1), 111–118.

    Google Scholar 

  • Philippart, M. (1990). The Rett syndrome in males.Brain and Development, 12, 33–36.

    Google Scholar 

  • Rendle-Short, J. (1969). Infantile autism in Australia.Medical Journal of Australia, 2, 245–249.

    Google Scholar 

  • Rett, A. (1966) Ueber ein eigenartiges hirnatrophisches syndrom bei hyperammonamie im kindesalter.Wiener Medizinische Wochenschrift, 116, 723–738.

    Google Scholar 

  • Rett, A. (1969). Ein zerebral-atrophisches Syndrom bei Hyperammonamie im Kindesalter.Fortschritte der Medizin, 87, 507–509.

    Google Scholar 

  • Rett, A. (1977). A cerebral atrophy associated with hyperammonaemia. In P. J. Vinken & G. W. Bruyn (Eds.)Handbook of clinical neurology. Amsterdam: North Holland.

    Google Scholar 

  • Rett, A. (1986). History and general overview.American Journal of Medical Genetics, 24(Suppl.1), 21–26.

    Google Scholar 

  • Riccardi, V. M. (1986). The Rett syndrome: Genetics and the future.American Journal of Medical Genetics, 24(Suppl. 1), 389–402.

    Google Scholar 

  • Riederer, P., Brucke, T., Sofic, E., Kienzl, E., Schnecker, K., Eng, D., Schay, V., Kryzik, P., Eng, D., Killian, W., & Rett, A. (1985). Neurochemical aspects of the Rett syndrome.Brain and Development, 7, 351–360.

    Google Scholar 

  • Riederer, P., Wieser, M., Wichart, I., Schmidt, B., Killian, W., & Rett, A. (1986). Preliminary brain autopsy findings in progredient Rett syndrome.American Journal of Medical Genetics, 24(Suppl. 1), 305–315.

    Google Scholar 

  • Robb, S. A., Harden, A., & Boyd, S. G. (1989). Rett syndrome: An EEG study in 52 girls.Neuropediatrics, 20, 192–195.

    Google Scholar 

  • Rolando, S. (1985). Rett syndrome: Report of eight cases.Brain and Development, 7, 290–296.

    Google Scholar 

  • Schleichkorn, J. (1987). Rett syndrome: A neurological disease largely undiagnosed here.Physical Therapy Bulletin, 2, 16–18.

    Google Scholar 

  • Sofic, E., Riederer, P., Killian, W., & Rett, A. (1987). Reduced concentrations of ascorbic acid and glutathione in a single case of Rett syndrome: A postmortem brain study.Brain and Development, 9, 529–531.

    Google Scholar 

  • Sponseller, P. D. (1989).Orthopaedic problems in Rett syndrome. Ft. Washington, MD: International Rett Syndrome Association.

    Google Scholar 

  • Stephenson, J. B., & Kerr, A. M. (1987). Rett syndrome: Disintegration not dementia.Lancet, 1, 741.

    Google Scholar 

  • Trevanthan, E., & Naidu, S. (1988). The clinical recognition and differential diagnosis of Rett syndrome.Journal of Child Neurology, 3(Suppl.), S6-S16.

    Google Scholar 

  • Tuten, H., & Miedaner, J. (1989). Effect of hand splints on Stereotypic hand behavior of girls with Rett syndrome: A replication study.Physical Therapy, 69, 1099–1103.

    Google Scholar 

  • Van Acker, R. (1987).Stereotypic responding associated with Rett syndrome: A comparison of girls with this disorder and matched subject controls without the Rett syndrome. Doctoral Dissertation, Northern Illinois University, Dekalb.

    Google Scholar 

  • Wahlstrom, J. (1985). Genetic implications of Rett's syndrome.Brain and Development, 7, 573–574

    Google Scholar 

  • Wahlstrom, J., & Anvret, M. (1986). Chromosome findings in the Rett syndrome and a atest of a two-step mutation theory.American Journal of Medical Genetics, 24(Suppl. 1), 361–368.

    Google Scholar 

  • Weisz, C. L. (1987). Range of emotion.Brain and Development, 9, 543–545.

    Google Scholar 

  • Wesecky, A. (1986). Music therapy for children with Rett syndrome.American Journal of Medical Genetics, 24(Suppl. 1), 253–257.

    Google Scholar 

  • Witt-Engerstrom, I. (1987). Rett syndrome: A retrospective pilot study on potential early predictive symptomatology.Brain and Development, 9, 481–486.

    Google Scholar 

  • Zappella, M. (1986). Motivational conflicts in Rett syndrome.American Journal of Medical Genetics, 24(Suppl. 1), 143–151.

    Google Scholar 

  • Zoghbi, H. (1988). Genetic aspects of Rett syndrome.Journal of Child Neurology, 3(Suppl.), S76-S78.

    Google Scholar 

  • Zoghbi, H. Y., Percy, A. K., Glaze, D. G., Butler, I. J., & Riccardi, V. M. (1985). Reduction of biogenic amine levels in the Rett syndrome.New England Journal of Medicine, 313, 921–924.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. College of Education M/C 147, University of Illinois at Chicago, Box 4348, 60680, Chicago, Illinois

    Rick Van Acker

Authors
  1. Rick Van Acker
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Van Acker, R. Rett syndrome: A review of current knowledge. J Autism Dev Disord 21, 381–406 (1991). https://doi.org/10.1007/BF02206866

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02206866

Keywords

Search

Navigation