Findings from a multidisciplinary clinical case series of females with Rett syndrome

Abstract

Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants’ ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self‐care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand‐use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS.

Early speech–language development in females with Rett syndrome: focusing on the preserved speech variant

“…2,9 In this late stage, various prelinguistic behavioural patterns such as specific body movements, reaching, and facial expressions have been reported to fulfil a communicative function, eye gazing being the most common form. [10][11][12][13][14] The developmental pathway (especially the first 2y of life) of such idiosyncratic communicative behavioural patterns resembles a black box, which requires further study. The early verbal development of females with PSV might prove crucial for the further understanding of speech-language acquisition in the context of the whole RTT complex, since early vocalizations in infancy constitute precursors to speech.…”

Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence

“…18 Consistent with earlier recommendations in the literature, 18,46,47 surgery should be considered when the Cobb angle is approximately 40°to 50°. Surgical intervention before the development of severe scoliosis and before the effects of other comorbidities (such as decreasing mobility with increasing age in Rett syndrome 64 ) come into play, has the potential to improve surgical outcomes. This recommendation is also a measurable outcome of the acceptance of these guidelines by the orthopedic community.…”

Building the repertoire of measures of walking in Rett syndrome

“…In general, cohort studies show that slightly less than half of the population with a clinical diagnosis of RTT are able to walk [10,11]. The total sample did however include 44.7% of the Danish population of girls and women with RTT and a MECP2 mutation.…”

“…A large proportion of individuals with RTT are able to sit independently and about half are capable of walking 10 steps or more independently or with minimal support [10,11]. Many experience difficulties with transitions and only a small proportion is capable of performing more complex activities like stepping over an obstacle or walking on a slope independently [11].…”