Rett syndrome

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

Psychomotor retardation



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PMID (PMCID)
26596517
 FEMALE Infant
SATB2-associated syndrome presenting with Rett-like phenotypes.
Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH.
Clin Genet. 2016;89(6):728-32.
Moreover, targeted sequencing of the SATB2 gene was performed in a 2-year-old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome.
17216643
 FEMALE Middle Aged
Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Roze E, Cochen V, Sangla S, Bienvenu T, Roubergue A, Leu-Semenescu S, Vidaihet M.
Mov Disord. 2007;22(3):387-9.
Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation.
17216643
 FEMALE Middle Aged
Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Roze E, Cochen V, Sangla S, Bienvenu T, Roubergue A, Leu-Semenescu S, Vidaihet M.
Mov Disord. 2007;22(3):387-9.
Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology.
8436326
 FEMALE
[Rett syndrome].
Vardi G, Galil A, Shorer Z, Porter B.
Harefuah. 1993;124(2):78-81, 119.
The arrested head growth, severe psychomotor retardation and typical "washing hands" movements are typical of Rett syndrome.
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.