Rett syndrome: A retrospective pilot study on potential early predictive symptomatology

https://doi.org/10.1016/S0387-7604(87)80069-4Get rights and content

A pilot study is presented, in which traditional neurodevelopmental parameters were retrospectively used in an attempt to compare the early development of 10 young girls with Rett syndrome (RS) to that of considered normality in child health screening. The early developmental profile at key ages was defined by applying the Denver Developmental Screening Test frames for the range of normal development, to the achievements recorded for each child during routine developmental assessment in Swedish child health care. Key ages chosen were 6, 9–10, 15, 18 and 24 months. At the 6 month level no predictive deviations could have been revealed At 9–10 months suspicions of abnormal development could have been arisen from a delayed, dissociated motor development combined with immaturity of equilibrium functions. Developmental deviations and neurological signs indicative of RS had been present in 5 of the girls at 15 months, in 8 at 18 months and in all 10 at 24 months. Possible predictive signs were loss of acquired hand skill and learned single words, diminished communication and contact ability, appearance of truncal instability and dysequilibrium signs. The insidious appearance of motor developmental deviations during infancy, dwelling inside the concept of normality, was confirmed. Loss of acquired manipulative hand skill, often mixed with non-specific circulating hand-mouth movements, still constitutes the single most informative early warning signal for the syndrome.

References (15)

There are more references available in the full text version of this article.

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 Reviews
    Citation 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 Neurology
    Citation 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].

  • Regression in Rett syndrome: Developmental pathways to its onset

    2019, Neuroscience and Biobehavioral Reviews
    Citation 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).

View all citing articles on Scopus
View full text