Evolution of stereotypies in adolescents and women with Rett syndrome.
Identifieur interne : 002665 ( Ncbi/Merge ); précédent : 002664; suivant : 002666Evolution of stereotypies in adolescents and women with Rett syndrome.
Auteurs : Aglaia Vignoli [Italie] ; Francesca La Briola ; Maria Paola CaneviniSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Chromosomes, Human, X, Disease Progression, Electroencephalography, Female, Follow-Up Studies, Humans, Methyl-CpG-Binding Protein 2 (genetics), Mutation (genetics), Rett Syndrome (genetics), Rett Syndrome (physiopathology), Stereotyped Behavior (physiology), Young Adult.
- MESH :
- chemical , genetics : Methyl-CpG-Binding Protein 2.
- genetics : Mutation, Rett Syndrome.
- physiology : Stereotyped Behavior.
- physiopathology : Rett Syndrome.
- Adolescent, Adult, Age of Onset, Chromosomes, Human, X, Disease Progression, Electroencephalography, Female, Follow-Up Studies, Humans, Young Adult.
Abstract
Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed-up at San Paolo Hospital in Milan, we selected those aged > or =14 years and studied 12 patients (mean age 18. 6 years, range: 14-31) with MECP2 mutations. Mean age at stereotypies onset was 19.4 months; stereotypies at onset tend to be maintained during evolution, while new stereotyped movements can be detected in the follow-up. All patients still present stereotypies involving separated or joined hands: most frequently mouthing, pill rolling, and twisting. We underline that stereotyped movements persist in older patients and can be useful to suspect RTT diagnosis in adult age in otherwise unclassified patients.
DOI: 10.1002/mds.22595
PubMed: 19425070
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pubmed:19425070Le document en format XML
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Among 30 patients with RTT followed-up at San Paolo Hospital in Milan, we selected those aged > or =14 years and studied 12 patients (mean age 18. 6 years, range: 14-31) with MECP2 mutations. Mean age at stereotypies onset was 19.4 months; stereotypies at onset tend to be maintained during evolution, while new stereotyped movements can be detected in the follow-up. All patients still present stereotypies involving separated or joined hands: most frequently mouthing, pill rolling, and twisting. We underline that stereotyped movements persist in older patients and can be useful to suspect RTT diagnosis in adult age in otherwise unclassified patients.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19425070</PMID><DateCreated><Year>2009</Year><Month>08</Month><Day>03</Day></DateCreated><DateCompleted><Year>2009</Year><Month>10</Month><Day>21</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>9</Issue><PubDate><Year>2009</Year><Month>Jul</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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