Clinical manifestations and stages of rett syndrome
Abstract
The presentation and clinical diagnosis of Rett syndrome at various ages and stages are reviewed. In addition to the classical form, variability in phenotype between different atypical Rett forms is given. Obligatory, supportive, and differential diagnostic criteria are summarized. Long-term follow-up findings in ageing Rett women are addressed.
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Rett Syndrome is characterized by seemingly normal postnatal development followed by a sudden deceleration in growth associated with progressive loss of acquired motor and language skills, stereotypic hand movements, muscle hypotonia, autonomic dysfunctions and severe cognitive impairment.
“The disease is characterized by seemingly normal postnatal development followed by a sudden deceleration in growth associated with progressive loss of acquired motor and language skills, stereotypic hand movements, muscle hypotonia, autonomic dysfunctions and severe cognitive impairment 121 .”
From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [121]
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“RTT patients may also suffer from sporadic episodes of gastrointestinal problems, hypoplasia, early-onset osteoporosis, bruxism and screaming spells [4].”
BackgroundRedox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome
Signorini, C., Leoncini, S., De Felice, C., Pecorelli, A., Meloni, I., Ariani, F., Mari, F., Amabile, S., Paccagnini, E., Gentile, M., et al. (2014) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2014/195935 · Cited by 61 · see citing works
- Authors
- Hagberg, B.
- Affiliations
- Drottning Silvias barn- och ungdomssjukhus (SE)
- Corresponding author
- Hagberg, Bengt
- Venue
- Mental Retardation and Developmental Disabilities Research Reviews
- Publisher
- Wiley
- Published
- 2002-01
- Volume
- 8
- Issue
- 2
- Pages
- 61-65
- ISSN
- 1080-4013 (ISSN-L)
- 1098-2779
- OpenAlex
- W2169760625
- Cited by
- 416
- References
- 0
- Citations by year
- 2026: 7 · 2025: 24 · 2024: 36 · 2023: 27 · 2022: 17 · 2021: 20 · 2020: 16 · 2019: 27 · 2018: 23 · 2017: 19 · 2016: 21 · 2015: 35 · 2014: 21 · 2013: 17 · 2012: 14
- FWCI
- 0.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Mental Retardation and Developmental Disabilities Research Reviews (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Keywords
- Rett syndrome, clinical features, disease stage, atypical Rett syndrome, phenotypic variability, differential diagnosis, long-term follow-up, older women, developmental disabilities
- MeSH terms
- Age Factors, Female, Follow-Up Studies, Humans, Neurologic Examination, Neuropsychological Tests, Phenotype, Rett Syndrome
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