Rett syndrome is a mental retardation syndrome that occurs only in females and consists of normal pre-, peri-, and neonatal growth and development. It is followed by rapid neurobehavioral deterioration in late infancy or early childhood, a developmental arrest, plateauing, and then either a course of retarded development or continued deterioration. The period of rapid neuro-behavioral deterioration manifests as a partial autistic syndrome, with loss of production and comprehension of language, hyperactivity, hyperventilation, hand-wringing, and ataxic gait. Current diagnostic criteria are discussed and suggestions for further research are presented. (J Child Neurol 1988;3:263-268).
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References
1.
Rett A.: Uber ein eigenartiges hirnatrophisches syndrom bei Hyperammonamie im. Kindesalter Wein Med Wochenschr1966; 116:723-738.
2.
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 Neurol1983;14:471-479.
3.
Hagberg B., Goutières F., Hanefeld F., et al: Rett syndrome: Criteria for inclusion and exclusion. Brain Dev1985;7:372-373.
4.
Adkins WN: Rett syndrome at an institution for the developmentally disabled. Am J Med Genet1986;24(Suppl 1):85-98.
5.
Goutières F. , Aicardi J.: Rett syndrome: Clinical presentation and laboratory investigations in 12 further French patients. Brain Dev1985;7:305-306.
6.
Holm VA: Rett's syndrome: A progressive developmental disability in girls. J Dev Behav Pediatr1985;67:32-36.
7.
Hagberg B.: Rett syndrome: Swedish approach to analysis of prevalence and cause . Brain Dev1985;7:277-280.
8.
Hagberg B.: Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand1985;74:405-408.
9.
Kerr AM, Stephenson JBP: Rett's syndrome in the west of Scotland. Br Med J1985;291:579-582.
10.
Hagberg B., Witt-Engerström I.: Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet1986;24:47-60.
11.
Hanefeld F. : The clinical pattern of the Rett syndrome . Brain Dev1985;7:320-325.
12.
Holm VA: Physical growth and development in patients with Rett syndrome. Am J Med Genet1986;24(Suppl 1):119-126.
13.
Archidiacono N., Rett A., Rocchi M., et al: Rett syndrome and fragile site in Xp22. Lancet1985;2:1242-1243.
14.
Gillberg C. , Wahlstrom J., Hagberg B.: Infantile autism and Rett's syndrome: Common chromosomal denominator. Lancet1984;2:1094-1095.
15.
Gillberg C. , Wahlstrom J., Hagberg B.: A "new" chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at Xp22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome . Brain Dev1985;7:365-367.
16.
Hillig U.: On the genetics of the Rett syndrome. Brain Dev1985;7:368-371.
17.
Moore JW, Tuck-Muller CM, Murphy M., et al: Chromosome studies in 10 patients with the Rett syndrome. Am J Med Genet1986;24(Suppl 1):345-354.
18.
Wahlstrom MJ , Anvert M.: Chromosome findings in the Rett syndrome and a test of a two-step mutation theory. Am J Med Genet1986;24(Suppl 1):361-368.
19.
Romeo G., Archidiacono N., Rocchi M.: Rett syndrome: Lack of association with fragile site Xp22 and strategy for genetic mapping of x-linked new mutations. Am J Med Genet1986;24(Suppl 1):355-360.
20.
Comings DE: The genetics of Rett syndrome: The consequences of a disorder where every case is a new mutation. Am J Med Genet1986 ;24(Suppl. 1):383-388.
21.
Moser HW: Preamble to the workshop on Rett syndrome. Am J Med Genet1986;24(Suppl 1):1-20.
22.
Tariverdian G., Kantner G., Vogel F.: A monozygotic twin pair with Rett syndrome . Hum Genet1987;75:88-90.
23.
Al-Mateen M. , Philippart M., Shields WD: Rett syndrome. A commonly overlooked progressive encephalopathy in girls. Am J Dis Child1986 ;140:761-765.
24.
Riccardi VM : The Rett syndrome: Genetics and the future . Am J Med Genet1986;24(Suppl 1):389-402.
25.
Killian W.: On the genetics of Rett syndrome: Analysis of family and pedigree data. Am J Med Genet1986;24(Suppl 1):369-376.
26.
Anvert M., Johansson IM, Wahlstrom J., Hagberg B.: Linkage analysis of the Rett syndrome using human chromosomal specific probes . Brain Dev1985;7:361-364.
27.
Percy AK, Zoghbi H., Riccardi VM: Rett syndrome: Initial experience with an emerging clinical entity . Brain Dev1985;7: 300-304.
28.
Riederer P. , Brucke T., Sofic E., et al: Neurochemical aspects of the Rett syndrome. Brain Dev1985 ;7:351-360.
29.
Zoghbi HY, Percy AK, Glaze DG, et al: Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med1985;313: 921-924.
30.
Harris JC, Wong DF, Wagner HN Jr, et al: Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in Rett syndrome. Am J Med Genet1986;24(Suppl 1):201-209.
31.
Wagner HN Jr: Rett syndrome: positron emission tomography (PET) studies . Am J Med Genet1986;24(Suppl 1):211-224.
32.
Wagner HN Jr, Burns HD, Dannals JM, et al: Imaging dopamine receptors in the human brain by positron tomography. Science1983;221:1264-1266.
33.
Wong DF, Wagner HN Jr, Dannals JM, et al: Effects of age on dopamine and serotonin receptors measured by positron tomography in the living human brain. Science1984;226: 1393-1396.
34.
Raichele ME : Progress in brain imaging. Nature1985;317: 574-576.
35.
Chugani HT, Phellps ME: Maturational changes in cerebral function in infants determined by FDG positron emission tomography. Science1986;231:840-843.
36.
Haas RH, Rice MA, Trauner DA, Merritt TA: Therapeutic effects of a ketogenic diet in Rett syndrome. Am J Med Genet1986;24(Suppl 1):225-246.
37.
Bachmann C. , Colombo JP, Gugler E.: Biotin and Rett syndrome . Am J Med Genet1986;24(Suppl 1):323-330.
38.
Bachmann C. , Schaub J., Colombo JP, et al: Rett syndrome revisited: A patient with biotin dependency. Eur J Pediatr1986 ; 144:563-566.
39.
Boltshauser E., Niederwieser A., Kierat L., Haenggeli CA: Pterins in patients with Rett syndrome. Am J Med Genet1986;24(Suppl 1):317-322.
40.
Hvman SL, Batshaw ML: A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations . Am J Med Genet1986;24(Suppl 1):339-344.
41.
Niedermeyer E., Rett A., Renner H., et al: Rett syndrome and the electroencephalogram . Am J Med Genet1986;24(Suppl 1):195-200.
42.
Garofalo B. , Drury I., Goldstein G.: Characteristic electroencephalographic findings aid diagnosis of Rett syndrome. Ann Neurol1987;22:421.
43.
Glaze DG, Frost JD, Zoghbi HY, Percy AK: Rett's syndrome: Correlations of EEG characteristics with clinical staging . Arch Neurol1987;44:1053-1056.
44.
Glaze DG, Frost JD Jr, El Hibri HY, Percy AK: Rett's syndrome: Polygraphic electroencephalographic-video characterization of sleep and respiratory patterns during sleep and wakefulness, abstract. Ann Neurol1985;18:417.
45.
Glaze DG, Frost JD Jr, El Hibri HY, Percy AK: Rett's syndrome: Characterization of respiratory patterns and sleep . Ann Neurol1987;21:377-382.
46.
Cirignotta F. , Lugaresi E., Montagna P.: Breathing impairment in Rett syndrome. Am J Med Genet, 1986;24(Suppl 1):167-174.
47.
Lugaresi E. , Cirignotta F., Montagna P.: Abnormal breathing in the Rett syndrome. Brain Dev1985;7:329-333.
48.
Lugaresi E. , Cirignotta F.: An unusual type of respiratory apraxia. Electroencephalogr Clin Neurophysiol1982;35(Suppl 1): 317-322.
49.
Landau WM, Kleffner FR: Syndrome of acquired aphasia with convulsive disorder in children . Neurology1957;7:523-530.
50.
Mantovani JF , Landau WM: Acquired aphasia with convulsive disorder: cause and prognosis. Neurology1980 ;30:524-529.
51.
Rapin I.: Children with Brain Dysfunction: Neurology, Cognition, Language, and Behavior . New York, Raven Press , 1982.
