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Rett syndrome: a wide clinical and autonomic picture

Overview of attention for article published in Orphanet Journal of Rare Diseases, September 2016
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Title
Rett syndrome: a wide clinical and autonomic picture
Published in
Orphanet Journal of Rare Diseases, September 2016
DOI 10.1186/s13023-016-0499-7
Pubmed ID
Authors

G. Pini, S. Bigoni, L. Congiu, A. M. Romanelli, M. F. Scusa, P. Di Marco, A. Benincasa, P. Morescalchi, A. Ferlini, F. Bianchi, D. Tropea, M. Zappella

Abstract

Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body systems: nervous, muscolo-skeletal, gastro-enteric. Moreover, part of the symptoms are related to the involvement of the autonomic nervous system. In the Tuscany Rett Center at Versilia Hospital, we collected data from 151 subjects with a clinical diagnosis of classical or variant RTT syndrome. For each subject, we assessed the severity of the condition with clinical-rating scales (ISS, PBZ), we quantified the performance of the autonomic nervous system, and we performed genetic analysis. We used multivariate statistical analysis of the data to evaluate the relation between the different clinical RTT forms, the cardiorespiratory phenotype, the different genetic mutations and the severity of the clinical picture. Individuals were classified according to existing forms: Classical RTT and three atypical RTT: Z-RTT, Hanefeld, Congenital. A correlation between C-Terminal deletions and lower severity of the clinical manifestations was evident, in the previous literature, but, considering the analysis of autonomic behaviour, the original classification can be enriched with a more accurate subdivision of Rett subgroups, which may be useful for early diagnosis. Present data emphasize some differences, not entirely described in the literature, among RTT variants. In our cohort the Z-RTT variant cases show clinical features (communication, growth, epilepsy and development), well documented by specific ISS items, less severe, if compared to classical RTT and show autonomic disorders, previously not reported in the literature. In this form epilepsy is rarely present. In contrast, Hanefeld variant shows the constant presence of epilepsy which has an earlier onset In Hanefeld variant the frequency of apneas was rare and, among the cardiorespiratory phenotypes, the feeble type is lacking. A quantitative analysis of the different autonomic components reveals differences across typical and atypical forms of RTT that leads to a more accurate classification of the groups. In our cohort of RTT individuals, the inclusion of autonomic parameter in the classification leads to an improved diagnosis at earlier stages of development.

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Geographical breakdown

Country Count As %
Unknown 85 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 12 14%
Student > Master 9 11%
Other 7 8%
Researcher 7 8%
Student > Doctoral Student 6 7%
Other 17 20%
Unknown 27 32%
Readers by discipline Count As %
Medicine and Dentistry 16 19%
Nursing and Health Professions 12 14%
Psychology 8 9%
Neuroscience 6 7%
Biochemistry, Genetics and Molecular Biology 4 5%
Other 8 9%
Unknown 31 36%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 03 October 2016.
All research outputs
#15,385,802
of 22,890,496 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,803
of 2,629 outputs
Outputs of similar age
#204,084
of 322,600 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#23
of 28 outputs
Altmetric has tracked 22,890,496 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,629 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 23rd percentile – i.e., 23% of its peers scored the same or lower than it.
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