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.

Development of a Video-based Evaluation Tool in Rett Syndrome

“…Purposeful hand function was described with items on picking-up, holding and transferring of objects identified in the Hand Apraxia Scale (Burd et al, 1990) and previous clinical assessment (Cass et al, 2003). The ability to pick up, grasp, hold and transfer objects between hands (e.g.…”

“…These descriptions will subsequently be recoded into categories. Although previous studies have classified patterns of hand movement into specific categories such as washing, wringing, twisting, mouthing and clapping (Bumin et al, 2002;Cass et al, 2003), there are potential methodological problems in using such categories without clearly defined terms (Mount, Hastings, Reilly, Cass, & Charman, 2001). …”

“…Items were adapted from clinical assessments (Cass et al, 2003) and the Infant/Toddler Checklist in the Communication and Symbolic Behaviour Scales Developmental Profile (Wetherby & Prizant, 2002). Each item was coded as either observed, absent or not videotaped.…”

“…In RTT, video has been used to supplement data from clinic assessment of children and adults (Cass et al, 2003), to gain wider clinical observations (Kerr, 1995), to document the characteristics of stereotypical hand movements (Wright et al, 2003) and hand function (Umansky et al, 2001), and to check the concordance between seizures and other events described as seizures (Glaze, Schultz, & Frost, 1998). Other studies have used video to investigate the effectiveness of hand splints on stereotypical hand movements and functional hand use (Bumin, Uyanik, Kayihan, Duger, & Topcu, 2002) and anti-epileptic medication on seizure frequency (Stenbom, Tonnby, & Hagberg, 1998) and to evaluate a music therapy intervention (Yasuhara & Sugiyama, 2001).…”

Folinic Acid Supplementation in Rett Syndrome Patients Does Not Influence the Course of the Disease: A Randomized Study

“…Others, like feeding, autonomic disturbances, and seizures, tend to become more stable. 4 Therefore, evaluation of therapeutic efficacy in Rett syndrome requires long-term follow-up and the use of reproducible measurements over time.…”