Medical Management Considerations
Resources for Families
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Description and Cause
Rett Syndrome is a disorder recognized initially in females characterized by developmental stagnation and subsequent loss of acquired developmental skills, with onset usually around 12 months (6-18 months) of age. In many cases, children are misdiagnosed as having cerebral palsy or non-specific developmental delay. Within the past several years a number of MECP2 mutations localized to the X chromosome have been identified in up to 79% of patients with classical Rett syndrome and 25% to 33% of those having nonclassical features. The recent identification of mutations in the methyl-CpG-protein 2 gene (MECP2) on the X chromosome in patients with Rett Syndrome has allowed identification of mentally retarded males with similar mutations. This suggests that males may have the deletions but have different phenotype presentations.
Stage I: Onset: age 6-18 months; Duration: weeks or months
Stage II: Onset: age 1-4 years; Duration: weeks or months
Stage III: Onset: age 2-10 years; Duration: months or years
Stage IV: Onset: age 10 years or over; Duration: years
Note: Many girls remain in Stage III for most of their lives; only some reach Stage IV.
MEDICAL MANAGEMENT CONSIDERATIONS
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Note: These considerations are in addition to the normal medical care provided to an individual without Rett Syndrome. All recommendations can be addressed through clinical examination by the primary care provider, unless otherwise noted.
Upon Diagnosis (Birth to 5 years)
Rett Syndrome is characterized by a period of apparently normal early development. As a result, nearly all children with Rett Syndrome are identified in early childhood when they first evidence developmental stagnation or regression. Whether this occurs in infancy or early childhood, the following should be performed:
Ongoing (all ages)
Childhood (1 to 13 years)
Adolescence and Adulthood (13 years and over)
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Peer-reviewed Journal Articles/Academies
Amir, R. et al. (2000). Candidate Gene Analysis in Rett Syndrome and the Identification of 21 SNPs in Xg. American Journal of Human Genetics, 90(1), 69-71.
Auranen M. et al. (2001). MECP2 Gene Analysis in Classical Rett Syndrome and in Patients with Rett-like Features. Neurology, 56(5), 611-617.
Bienvenu T. et al. (2000). MECP2 Mutations Account for Most Cases of Typical Forms of Rett Syndrome. Human Molecular Genetics, 9(9), 1377-1384.
Budden, S.S. (1995). Management of Rett Syndrome: A Ten Year Experience. Neuropediatrics, 26(2), 75-77.
Budden, S.S. (1997). Understanding, Recognizing, and Treating Rett Syndrome. Medscape Women’s Health, 2(3), 3.
Hagberg, B. (2005). Long-term Clinical Follow-up Experiences over Four Decades. Journal of Child Neurology, 20(9), 722-727.
Ham, A.L. (2005). Does Genotype Predict Phenotype in Rett Syndrome? Journal of Child Neurology, 20(9), 718-721.
Huppke, P., Gartner, J. (2005). Molecular Diagnosis of Rett Syndrome. Journal of Child Neurology, 20(9), 732-736.
Lebo, R,V. et al. (2001). Rett Syndrome from Quintuple and Triple Deletions within MECP2 Deletion Hotspot Region. Clinical Genetics, 59(6), 406-417.
Moog, U. et al. (2006). MECP2 Mutations are an Infrequent Cause of Mental Retardation Associated with Neurological Problems in Male Patients. Brain & Development, 28(5), 305-310.
Meloni, I. et al. (2000). A Mutation in the Rett Syndrome Gene, MECP2, Causes X-linked Mental Retardation and Progressive Spasticity in Males. American Journal of Human Genetics, 67(4), 982-985.
Percy, A.K., Lane, J.B. (2005). Rett Syndrome: Model of Neurodevelopmental Disorders, Journal of Child Neurology, 20(9), 718-721.
Robertson, L. et al. (2006). The Association between Behavior and Genotype in Rett Syndrome Using the Australian Rett Syndrome Database. American Journal of Medical Genetics, Part B. Nueropsychiatric Genetics, 141(2), 177-183.
Trappe, R. et al. (2001). MECP2 Mutations in Sporadic Cases of Rett Syndrome are Almost Exclusively of Paternal Origin. American Journal of Human Genetics, 68(5), 1093-1101.
Von Tetzchner, S. et al. (1996). Vision, Cognition and Developmental Characteristics of Girls and Women with Rett Syndrome. Developmental Medicine and Child Neurology, 38(3), 212-225.
Wan, M. et al. (1999). Rett syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots. American Journal of Human Genetics 65(6), 1520-1529.
Special Interest Groups/Other Publications
Batshaw, M.L. & Perret, Y.M. (1992). Children with Disabilities. Baltimore: Paul H. Brookes.
Capute, A.J. & Accardo, P.J. (1996). Developmental Disabilities in Infancy and Childhood vol. I: Neurodevelopmental Diagnosis and Treatment. Baltimore: Paul H. Brookes Publishing.
Capute, A.J. & Accardo, P.J. (1996). Developmental Disabilities in Infancy and Childhood vol II: The Spectrum of Developmental Disabilities. Baltimore: Paul H. Brookes Publishing Co.
Hagberg, B. (1993). Rett Syndrome – Clinical & Biological Aspects. London: MacKeith Press.
Kastner, T. et al. (1992). Rett Syndrome and Metabolic Disorder” (letter to the editor). Journal of the American Academy of Child and Adolescent Psychiatry, 31(3), 567-568.
Lee, J. (1999). Coping with Rett Syndrome. Agricultural Research, 47(2), 20.
Menkes, J.H. (1995). Textbook of Child Neurology (5th Ed.). Baltimore: Lippincott, Williams & Wilkins.
Rubin, I,L. & Crocker, A.C. (1989). Developmental Disabilities: Delivery of Medical Care for Children and Adults. Philadelphia: Lea & Febiger.
RESOURCES FOR FAMILIES
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Baylor College of Medicine Rett Center
California Department of Developmental Services
California Regional Centers
Exceptional Parent Magazine
International Rett Syndrome Association, Inc.
Kennedy-Krieger Institute Rett Program
March of Dimes Birth Defects Foundation
National Institute of Neurological Disorders and Stroke
Northwest Rett Syndrome Foundation
Research for Rett Foundation, Inc.
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Theodore A. Kastner, M.D., M.S.
Felice Weber Parisi, M.D., M.P.H.
Romie H. Holland, M.D.
Joan M. Reese, M.D., M.P.H.
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This document does not provide advice regarding medical diagnosis or treatment for any individual case, and any opinions or statements contained in this document are not intended to serve as a standard of medical care. Physicians are encouraged to view the considerations presented in this document in light of evolving scientific information. This document is not intended for use by the layperson. Reproduction of this document may be done with proper credit given to California Department of Developmental Services.