Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study

Abstract

Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life. We did a longitudinal study to address if a possible decline in motor skills in adults with RTT can be explained by the presence of common medical conditions as epilepsy, breathing disturbance, and scoliosis. Data from the Danish RTT database, medical files, and videos from visits at the national Center for Rett syndrome were reviewed. The study included 24 individuals aged 30-66 years at last visit after a follow-up period of 6-12 years. Results showed a clinically observable and significant decline in gross motor skills using the Rett syndrome Gross Motor Scale (RSGMS) with a tendency of less decline in the individuals with the best motor abilities. The frequencies of comorbidities were high. Decline in RSGMS score was associated with the presence of epilepsy and severe scoliosis that had been conservatively managed. The results emphasize that epilepsy plays a significant role in the adult RTT life and management of severe scoliosis in the younger years has impact on the motor abilities in adulthood.

Intensive Postural and Motor Activity Program Reduces Scoliosis Progression in People with Rett Syndrome

“…In support of this consideration, our group statistically improved stair climbing ability, which was related in previous research to better scoliosis outcomes in this population [60]. Moreover, these considerations echo a previous report of Bisgaard and colleagues describing a negative relation between scoliosis entity and motor functioning in adults with RTT [61]. The authors highlighted the need for lifelong rehabilitation and promotion of an active lifestyle to maintain physical health and functional level, which the authors of the current article wholeheartedly support.…”

Psychological aspects of being a parent of an individual with Rett syndrome: A scoping review

“…However, the longevity of people with intellectual and developmental disabilities is increasing (Freilinger et al, 2010; WHO, 2000). In the Danish cohort of individuals with RTT, two thirds are above 18 years of age (Bisgaard et al, 2021). This could also be the case in other countries.…”

Rett Syndrome in Ireland: A demographic study

“…Articles published in the years ranging from 1985 to 2022 were then chosen from a PubMed search. The nations in this comparison include the USA and Canada [23][24][25][26][27][28]; Italy [4,29]; Denmark [30][31][32]; Australia [5,[33][34][35][36][37][38][39]; UK [36,[40][41][42]; the Netherlands and Belgium [43,44]; Brazil [45]; Poland [46]; Sweden [47]; and an international analysis [48]. The countries are represented using the ISO country codes: USA-US, Italy-IT, Denmark-DK, Netherlands-NL, Sweden-SE, Australia-AU, UK-UK, Brazil-BR, Poland-PL, Ireland-IE; for the international cohort, we used abbreviation 'Intl'.…”

“…The variation in RTT presentation is associated with various factors, including: the nature of MECP2 mutation present [17][18][19][20], the degree of X-chromosome inactivation [21,22], the individual's genetic background; and the site and location of MeCP2 expression in the individual's brain [3]. Additional variability comes from the reports of demographic analysis from specific populations in several countries such as USA and Canada [23][24][25][26][27][28]; Italy [4,29]; Denmark [30][31][32]; Australia [5,[33][34][35][36][37][38][39]; UK [36,[40][41][42]; the Netherlands and Belgium [43,44]; Brazil [45]; Poland [46]; Sweden [47]; and an international analysis [48]. Due to this degree of variability in presentation, RTT is commonly misdiagnosed and often difficult to treat effectively, especially when considering differences in the genetic basis of the condition.…”