Aging in Rett syndrome: a longitudinal study

Abstract

Little is known about the aging process of people with specific syndromes, like Rett syndrome (RTT). Recognition of the clinical and behavioral characteristics of the adult RTT is needed in order to improve future management of the RTT girl and counseling of parents. In association with the Dutch RTT parent association, a 5-year longitudinal study was carried out. The study population consisted of 53 adult women with a clinical diagnosis of RTT. Postal questionnaires were sent, including demographic features, skills, physical and psychiatric morbidity. At the time of the second measurement seven women had died. In 2012, 80% of the questionnaires (37/46) were returned. Mean age of the women was 31.4 years. Molecular confirmation was possible for 83% of the women for whom analyses were carried out. The adult RTT woman has a more or less stable condition. The general disorder profile is that of a slow on-going deterioration of gross motor functioning in contrast to a better preserved cognitive functioning, less autonomic and epileptic features and good general health. This is the first longitudinal cohort study about aging in RTT. Continuing longitudinal studies are needed to gain more insight into the aging process in RTT.

Longitudinal course of epilepsy in Rett syndrome and related disorders

“…A number of cohort studies have examined overall health in patients with Rett syndrome, and have found high overall prevalence of a history of epilepsy. The Dutch cohort includes data on 53 individuals collected in 2007, and 37 of these had follow-up data in 2012 (Halbach et al, 2013). Among these, 76% had a history of seizures, but 54% of those with seizures had been seizure-free at some point for at least 3 months.…”

Twenty years of surveillance in Rett syndrome: what does this tell us?

“…Thus far only two studies conducted in the Netherlands (2007: n = 53, 2012: n = 37) [7] and Italy (n = 84) [8] have specifically examined health in adults with Rett syndrome. Overall, general health was reported to be good.…”

“…However epilepsy was found to be highly prevalent in both the Dutch (93%) and the Italian cohorts (82%), and while improvement in seizure activity with age was noted for some women [8], some remained difficult to treat and the majority required medications for control of seizures. A post-adolescence decline in gross motor skills has been reported in some [7,9] but not all women with Rett syndrome [7]. Gross motor capabilities are influenced by the type of mutation present in the MECP2 gene and are generally poorer in those requiring surgical correction for scoliosis [10].…”

“…Autonomic dysfunction which may manifest as hyperventilation or breath holding, or peripheral vasomotor disturbances is a well-recognised but poorly understood feature of Rett syndrome. Abnormal or disturbed sleep patterns and behavioural issues also appeared to persist [7,8]. Similarly, gastrointestinal issues such as constipation, reflux, and feeding difficulties remained prevalent [7,8] and may contribute to poor growth [11].…”

“…Abnormal or disturbed sleep patterns and behavioural issues also appeared to persist [7,8]. Similarly, gastrointestinal issues such as constipation, reflux, and feeding difficulties remained prevalent [7,8] and may contribute to poor growth [11]. However, there is a need for replication of these studies using larger sample sizes to improve our understanding of clinical presentations beyond the growth and development of childhood.…”