Aging in people with specific genetic syndromes: Rett syndrome

Abstract

The aging process of people with intellectual disabilities has been a topic of interest in recent years. Good knowledge of the specific healthcare problems in adults with intellectual disabilities and anticipating on these problems are important issues in providing support and healthcare for these persons. Nevertheless little is known about the aging process of people with specific syndromes, like Rett syndrome. In association with the Dutch Rett syndrome parent association, 70 postal questionnaires were sent to the contact persons of the females aged at least 16 years with a clinical diagnosis of Rett syndrome. The questionnaire consisted of general questions, questions about living conditions, skills, physical and psychiatric morbidity. The response rate was 76% (n = 53). In general adults with Rett syndrome seemed to be reasonably healthy, whereas neurological, respiratory and behavioral morbidity appeared to be of great influence. High care dependency was confirmed. In contrast with underweight, overweight showed to be an under-ascertained feature. The general disorder profile was confirmed, considering the increase with age regarding kyphosis and the better communication and autonomic dysfunction in the oldest age group compared to the younger age groups. Features of autonomic dysfunction deserve more medical attention, especially the interrelation between quality of sleep, respiration and behavior in Rett syndrome. Longitudinal studies including genotype-phenotype analyses are needed for insight in individual changes in support needs and health.

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

“…These prevalence data are consistent with proportions reported by smaller sample size ( n  = 53 [26], n  = 143 [34], n  = 145 [35]) parent-report studies for breath-holding. Slightly higher prevalences of breath-holding (76.9%) and hyperventilation (58.2%) were reported in a smaller ( n  = 91) and slightly older (4–47 years, mean 20.5 years) Italian population [28].…”

“…Although progress continues to be made towards understanding the mechanisms underlying the abnormal respiratory patterns [8, 18, 21–25], estimates of prevalence for these features have only been reported in relatively small samples ( n  < 150) and range widely between 58 and 94% for breath-holding [7, 10–12, 26–28] and 26 and 100% for hyperventilation [7, 10–12, 26–28]. Breath-holding and hyperventilation have been reported to occur in girls 7 years of age and younger ( n  = 47 [9], n  = 12 [29]).…”

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders

“…24 Cross-sectional studies suggest that women with RTT are generally healthy, and may improve with respect to function and comorbidities during adolescence and adulthood. 25,26 Yet, few longitudinal studies have examined survival or risk factors for mortality in RTT. In a cohort of 53 Dutch adult women with RTT, only 37 were successfully followed for 5 years, and 7 died.…”

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

“…Until recently, the data available on age-related changes in Rett syndrome were limited to those derived from the early Swedish work (Witt-Engerström, 1992) carried out in the period prior to any knowledge of the genetic basis of Rett syndrome and those based on our own, earlier, cross-sectional data (Colvin et al, 2003). However in the past couple of years two studies have specifically examined the disorder profile into adulthood of Rett syndrome in general and of particular genotypes (Halbach et al, 2008; Smeets, Chenault, Curfs, Schrander-Stumpel, & Frijns, 2009). The first, a questionnaire study on 53 adults identified the major morbidities as neurological, respiratory and behavioural (Halbach et al, 2008).…”

“…However in the past couple of years two studies have specifically examined the disorder profile into adulthood of Rett syndrome in general and of particular genotypes (Halbach et al, 2008; Smeets, Chenault, Curfs, Schrander-Stumpel, & Frijns, 2009). The first, a questionnaire study on 53 adults identified the major morbidities as neurological, respiratory and behavioural (Halbach et al, 2008). The second identified specifically milder disorder profiles for those with p.R133C, p.R306C and C-terminal deletions (Smeets et al, 2009).…”