Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Autistic behavior

Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.


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PMID (PMCID)
30186973
(6115371)
 OTHER
Use of sugammadex in Rett syndrome: A case report.
Kupeli I, Tepe E, Kuyrukluyldz U.
J Dent Anesth Pain Med. 2018;18(4):261-265.
Rett syndrome (RS) is a neurodevelopmental disorder characterized by loss of cognitive, motor, and social skills, epilepsy, autistic behavior, abnormal airway patterns, gastroesophageal reflux, nutritional problems, and severe scoliosis.
22148093
(3229023)
 OTHER
Anesthetic management of an adult patient with Rett syndrome and limited mouth opening -A case report-.
Nho JS, Shin DS, Moon JY, Yi JW, Kang JM, Lee BJ, Kim DO, Chung JY.
Korean J Anesthesiol. 2011;61(5):428-30.
Rett syndrome is a neurological disease that occurs only in females and it manifests with mental retardation, seizures, movement disorders, autistic behavior and abnormal breathing.
18634417
 MIXED_SAMPLE Infant
[Neuroradiological studies in Rett syndrome].
Tsuda Y, Hashimoto T, Mori K, Ito H, Nishimura M, Fukumoto A, Kondo I.
No To Hattatsu. 2008;40(4):313-8.
Rett syndrome is a neurodevelopmental disorder characterized by autistic behavior as well as cognitive and motor skill loss that occurs early in life and almost exclusively affects females.
12707946
 FEMALE Child
Study of MECP2 gene in Rett syndrome variants and autistic girls.
Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A.
Am J Med Genet B Neuropsychiatr Genet. 2003;119B(1):102-7.
Mutations in MECP2 gene account for approximately 80% of cases of Rett syndrome (RTT), an X-linked severe developmental disorder affecting young girls, as well as for most cases of Preserved Speech Variant (PSV), a mild RTT variant in which autistic behavior is common.
10051171
 FEMALE Child
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).
Gustavsson P, Kimber E, Wahlstrom J, Anneren G.
Am J Med Genet. 1999;82(4):348-51.
The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years.
1298942
 FEMALE
[Rett's syndrome: description of a case with abnormal respiratory pattern].
Pertile N, Vergerio A, Galliani E, Turrin A, Caddia V, Rasori E.
Pediatr Med Chir. 1992;14(6):647-50.
Rett' syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures.
2063999
 FEMALE
A case of the Rett syndrome with acute encephalopathy induced during calcium hopantenate treatment.
Sasaki T, Minagawa M, Yamamoto T, Ichihashi H.
Brain Dev. 1991;13(1):52-5.
After this episode, she showed the rapid destructive stage of the Rett syndrome, i.e., severe psychomotor retardation with loss of speech, peculiar stereotypic hand movements, autistic behavior and seizures.
2533856
 FEMALE Child
[Rett syndrome. A report of fifteen cases].
Echenne B, Bressot N, Cheminal R, Van Leuwen F, Compagnon P, Azais M.
Ann Pediatr (Paris). 1989;36(10):661-8.
Our analysis of 13 observations of "classical" Rett syndrome shows that the most common findings include cognitive regression, autistic behavior, hypotonia, apraxia, and very suggestive stereotyped movements.