Rett syndrome: A retrospective pilot study on potential early predictive symptomatology
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Cited by (36)
Organic features of autonomic dysregulation in paediatric brain injury – Clinical and research implications for the management of patients with Rett syndrome
2020, Neuroscience and Biobehavioral ReviewsCitation Excerpt :Despite this proposal, we are mindful that this hypothesis has not yet been proven clinically and further work would be needed to test it in other external clinical settings. The clinical symptoms of EBAD can be sporadic and from a behavioural viewpoint, some evidence has also shown that the emergence of behavioural regression can be quite sudden (Witt-Engerström, 1987). While our previous work has illuminated some themes relating to the mechanism of autonomic dysregulation in Rett patients, as far as we are aware the organic features of several aspects of autonomic dysregulation in these patients remains incomplete.
Rett Syndrome as a movement and motor disorder – A narrative review
2020, European Journal of Paediatric NeurologyCitation Excerpt :A truncal ataxia with a peculiar jerky character was described by Hagberg et al. [8] in 100% of his sample. Truncal ataxia was also described in a number of smaller samples (4/7 Japanese girls between 4 and 18 years old) [18] and between 8/10 and 10/10 at 18 and 24 months respectively [19] in a retrospective study of Swedish RTT patients). Spasticity was described in the lower limbs of 100% of Rett's original patient cohort [56].
Rett syndrome before regression: A time window of overlooked opportunities for diagnosis and intervention
2019, Neuroscience and Biobehavioral ReviewsRegression in Rett syndrome: Developmental pathways to its onset
2019, Neuroscience and Biobehavioral ReviewsCitation Excerpt :A definite diagnosis is still missing, leaving the family confused and worried (Lee et al., 2013; Marschik et al., 2012d). The onset of behavioural regression can be sudden, as a father described: “One day she left hold of her spoon as if it burnt her, then never used her hands again” (Witt-Engerström, 1987; p 483). The most frequently reported pattern of this phenomenon is a gradual process of functional decline over a period of several months or even years which can be difficult to recognize and accompanied by comorbidities (Bisgaard et al., 2015b; Zappella et al., 1998; Zoghbi, 2016).
The Overlapping Spectrum of Rett and Angelman Syndromes: A Clinical Review
2007, Seminars in Pediatric NeurologyRett syndrome from a family perspective: The Swedish Rett Center survey
2005, Brain and Development