Abstract
It has long been recognized that there is phenotypic overlap between Rett syndrome (RS) and autism. Advances in our clinical and genetic understanding of RS over the past decade have made clear that the cause and course of RS and autism are distinct (except perhaps in a few cases). Despite this, further delineation of the phenotypic overlap between RS and autism is warranted to enhance clinical decision-making and to further understanding of neuropathological development in both disorders. The present study measured autistic symptoms using the Autism Behavior Checklist (ABC) in a sample of girls with RS and a comparison group of girls with severe and profound mental retardation (SMR). Controlling for developmental level and motor ability, girls with RS scored more highly than those with SMR on the Sensory and Relating subscales. In contrast, there were no group differences on the Body and Object use, Language and Social and Self-help subscales. Further work on the characterisation of the behavioral phenotype of genetic disorders such as RS and autism may aid in identifying the neuropathogenic processes that lead from gene-to-brain-to-behavior.
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REFERENCES
Allen, D. A. (1988). Autistic spectrum disorders: Clinical presentation in preschool children. Journal of Child Neurology, 3, S48-S56.
American Psychiatric Association (1994). Diagnostic and Statistical Manual of Mental Disorders 4th Edition (DSM-IV). Washington, DC: APA.
Amir, R. E., Van den Veyber, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG binding protein 2. Nature Genetics, 23, 185–188.
Carter, A. S., Volkmar, F. R., Sparrow, S. S., Wang, J. J., Lord, C., Dawson, G., Fombonne, E., Loveland, K., Mesibov, G., & Schopler, E. (1998). The Vineland Adaptive Behavior Scales: Supplementary norms for individuals with autism. Journal of Autism and Developmental Disorders, 28, 287–302.
Charman, T., Reilly, S., Owen, L., Wigram, T., Slonims, V., Weekes, L., Wisbeach, A., & Cass, H. (2002). Regression in individuals with Rett syndrome. Brain and Development, 24, 281–283.
Dykens, E. M., & Hodapp, R. M. (2001). Research in mental retardation: Toward an etiologic approach. Journal of Child Psychology and Psychiatry, 42, 49–71.
Einfeld, S. L., & Tonge, B. J. (1995). The Developmental Behaviour Checklist: The development and validation of an instrument for the assessment of behavioural and emotional disturbance in children and adolescents with mental retardation. Journal of Autism and Developmental Disorders, 25, 81–104.
Folstein, S. E., & Rosen-Sheidley, B. (2001). Genetics of autism: Complex aetiology for a heterogeneous disorder. Nature Reviews: Genetics, 2, 943–955.
Fombonne, E., & Chakrabarti, S. (2001). No evidence for a new variant of MMR-induced autism. Pediatrics, 108, E58.
Gillberg, C. (1987). Autistic symptoms in Rett syndrome: The first two years according to mother reports. Brain and Development, 9, 499–501.
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.
Gillberg, C. (1994). Debate and argument: Having Rett syndrome in the ICD-10 PDD category does not make sense. Journal of Child Psychology and Psychiatry, 35, 377–378.
Hagberg, B. (1995). Rett syndrome: Clinical peculiarities and biological mysteries. Acta Paediatrica, 84, 971–976.
Hagberg, B., Aicardi, J., Dias, K., & Ramos, O. (1983). A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand movements in girls: Rett syndrome: Report of 35 cases. Annals of Neurology, 14, 471–479.
Hagberg, B. A., & Skjeldal, O. H. (1994). Rett variants: A suggested model for inclusion criteria. Pediatric Neurolology, 11, 5–11.
Kerr, A. M., & Witt Engerström, I. (2001). The clinical background to the Rett disorder. In Kerr, A. M., Witt Engerström, I. (Eds.), Rett Disorder and the Developing Brain (pp. 1–26). Oxford: Oxford University Press.
Kerr, A. M., Nomura, Y., Armstrong, D., Anvret, M., Belichenko, P. V., Budden, S., Cass, H., Christodoulou, J., Clarke, A., Ellaway, C., d'Esposito, M., Francke, U., Hulten, M., Julu, P., Leonard, H., Naidu, S., Schanen, C., Webb, T., Engerstrom, I. W., Yamashita, Y., & Segawa, M. (2001). Guidelines for reporting clinical features in cases with MECP2 mutations. Brain and Development, 23, 208–211.
Krug, D. A., Arick, J., & Almond, P. (1980). Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior. Journal of Child Psychology and Psychiatry, 21, 221–229.
Krug, D. A., Arick, J. R., & Almond, P. J. (1993). Autism Screening Instrument for Educational Planning. Austin, Texas: Pro Ed.
Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism Diagnostic Interview-Revised. Journal of Autism and Developmental Disorders, 24, 659–686.
Lord, C., Pickles, A., McLennan, J., Rutter, M., Bregman, J., Folstein, S., Fombonne, E., Libya, M., & Minshew, N. (1997). Diagnosing autism: Analysis of data from the Autism Diagnostic Interview. Journal of Autism and Developmental Disorders, 27, 501–517.
Miranda-Linne, F. M., & Melin, L. (1997). A comparison of speaking and mute individuals with autism and autistic-like conditions on the Autism Behavior Checklist. Journal of Autism and Developmental Disorders, 27, 245–264.
Mazzocco, M. M., Pulsifer, M., Fiumara, A., Cocuzza, M., Nigro, F., Incorpora, G., & Barone, R. (1998). Brief report: Autistic behaviors among children with fragile X or Rett syndrome: Implications for the classification of pervasive developmental disorder. Journal of Autism and Developmental Disorders, 28, 321–328.
Mount, R. H., Hastings, R. P., Reilly, S., Cass, H., & Charman, T. (2001). Behavioural and emotional features in Rett syndrome. Disability and Rehabilitation, 23, 129–138.
Mount, R. H., Charman, T., Hastings, R. P., Reilly, S., & Cass, H. (2002). The Rett Syndrome Behaviour Questionnaire: Refining the behavioural phenotype of Rett syndrome. Journal of Child Psychology and Psychiatry, 43, 1099–1110.
Mount, R. H., Hastings, R. P., Reilly, S., Cass, H., & Charman, T. (2003). Towards a behavioral phenotype of Rett syndrome. American Journal on Mental Retardation, 108, 1–12.
Nordin, V., & Gillberg, C. (1996a). Autism spectrum disorders in children with physical or mental disability or both. I: Clinical and epidemiological aspects. Developmental Medicine and Child Neurology, 38, 297–313.
Nordin, V., & Gillberg, C. (1996b). Autism spectrum disorders in children with physical or mental disability or both. II: Screening aspects. Developmental Medicine and Child Neurology, 38, 314–324.
Olsson, B. (1987). Autistic traits in the Rett syndrome. Brain and Development, 9, 491–498.
Olsson, B., & Rett, A. (1985). Behavioral observations concerning differential diagnosis between the Rett syndrome and autism. Brain and Development, 7, 281–289.
Olsson, B., & Rett, A. (1987). Autism and Rett syndrome: Behavioural investigations and differential diagnosis. Developmental Medicine and Child Neurology, 29, 429–441.
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, S65–67.
Perry, A., Sarlo McGarvey, N., & Haddad, C. (1991). Brief report: Cognitive and adaptive functioning in 28 girls with Rett syndrome. Journal of Autism and Developmental Disorders, 21, 551–556.
Rett, A. (1966). Uber ein eigenartiges hirnatrophisches syndrome bei hyperammonamie im kindsalter. Wiener Medizinische Wochenschrift, 116, 723–726.
Rett Syndrome Diagnostic Criteria Working Group. (1988). Diagnostic criteria for Rett syndrome. Annals of Neurology, 23, 425–428.
Rutter, M. (1994). Debate and argument: There are connections between brain and mind and it is important that Rett syndrome be classified somewhere. Journal of Child Psychology and Psychiatry, 35, 379–381.
Sandberg, A. D., Ehlers, S., Hagberg, B., & Gillberg, C. (2000). The Rett syndrome complex: Communicative functions in relation to developmental level. Autism: The International Journal of Research and Practice, 4, 249–267.
Shahbazian, M. D., & Zoghbi, H. Y. (2001). Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Current Opinion in Neurobiology, 14, 171–176.
Sparrow, S., Balla, D., & Cicchetti, D. (1984). Vineland Adaptive Behavior Scales, Survey Edition. Circle Pines, MN: American Guidance Service.
Szatmari, P., Archer, L., Fisman, S., & Streiner, D. L. (1994). Parent and teacher agreement in the assessment of pervasive developmental disorders. Journal of Autism and Developmental Disorders, 22, 703–717.
Tsai, L. Y. (1992). Is Rett syndrome a subtype of pervasive developmental disorders? Journal of Autism and Developmental Disorders, 22, 551–561.
Volkmar, F. R., Cicchetti, D. V., Dykens, E., Sparrow, S. S., Leckman, J. F., & Cohen, D. J. (1988). An evaluation of the Autism Behavior Checklist. Journal of Autism and Developmental Disorders, 18, 81–97.
Volkmar, F. R., & Rutter, M. (1995). Childhood disintegrative disorder: Results of the DSM-IV autism field trial. Journal of the American Academy of Child and Adolescent Psychiatry, 34, 1092–1095.
Vourc'h, P., Bienvenu, T., Beldjord, C., Chelly, J., Barthelemy, C., Muh, J. P., & Andres, C. (2001). No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. European Journal of Human Genetics, 7, 556–558.
Wadden, N. P., Bryson, S., & Rodgers, R. S. (1991). A closer look at the Autism Behavior Checklist: Discriminant validity and factor structure. Journal of Autism and Developmental Disorders, 21, 529–541.
Wing, L., & Gould, J. (1979). Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification. Journal of Autism and Developmental Disorders, 9, 11–29.
Witt Engerström, I. (1992). Age-related occurrence of signs and symptoms in the Rett syndrome. Brain and Development, 14, S11–20.
Witt Engerström, I., & Gillberg, C. (1987). Rett syndrome in Sweden. Journal of Autism and Developmental Disorders, 17, 149–150.
Woodyatt, G. C., & Ozanne, A. E. (1997). Rett syndrome (RS) and profound intellectual disability: Cognitive and communicative similarities and differences. European Child and Adolescent Psychiatry, 6, 31–32.
World Health Organisation (1993). Mental Disorders: A Glossary and Guide to Their Classification in Accordance with the 10th Revision of the International Classification of Diseases: Research Diagnostic Criteria (ICD-10). Geneva: WHO.
Zappella, M., Gillberg, C., & Ehlers, S. (1998). The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases. Journal of Autism and Developmental Disorders, 28, 519–526.
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Mount, R.H., Charman, T., Hastings, R.P. et al. Features of Autism in Rett Syndrome and Severe Mental Retardation. J Autism Dev Disord 33, 435–442 (2003). https://doi.org/10.1023/A:1025066913283
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DOI: https://doi.org/10.1023/A:1025066913283