Luennoitsijat | SPEAKERS
Anne-Marie Bisgaard is a consultant paediatrician specialized in neurodevelopmental disorders and rare diseases. She works at Center for Rett syndrome and Center for Rare Diseases at the University Hospital of Copenhagen, Rigshospitalet. Since 2011, she has been the head of the national Danish Rett center which was then established for both children and adults with Rett syndrome.
She did her PhD within the clinical genetic area in 2007 (The phenotype of patients with submicroscopic chromosomal abnormalities and mental retardation. Description of new microdeletion syndromes). Since then, her research focus has been on neurodevelopmental disorders, which in recent years mainly has been within Rett syndrome and related disorders and Cornelia de Lange syndrome. The focus is both on the molecular causes and mechanisms for disease and on clinical issues and how to manage these.
Her clinical work focuses on different rare diseases, especially Rett syndrome. Individuals with Rett syndrome are followed lifelong on a regular basis by a multidisciplinary team. The visits result in an individual report concerning medical, physiotherapeutic, behavioral and communicative issues. The families also have access to advice from a dietician and a social worker associated the center.
Michelle Stahlhut, PT PhD works as a research physiotherapist at the Danish Center for Rett syndrome. Michelle Stahlhut obtained her doctoral degree within disability research at Lund University in 2018. The primary area of her research is health promotion throughout life in individuals with Rett syndrome and she especially focuses on validation of outcome measures and development and evaluation of physical activity interventions.
Up-time participation in girls and women with Rett syndrome
Rett syndrome is associated with multiple disabilities including intellectual disability leading to a high level of dependency in all aspects of daily living including participation in physical activities. The different impairments and restrictions could have negative effects on the health and quality of life in those with Rett syndrome.
In Denmark 122 individuals are diagnosed with Rett syndrome in the ages of 2 to 64 years. A total of 105 in the cohort have a MECP2 mutation. At the Danish center for Rett syndrome we focus on optimal and lifelong health-promotion and also enhancing the quality of life of those affected with Rett syndrome and their families.
During the last 5 years the research at the Danish center for Rett syndrome has concentrated on three major areas: 1) Outcome measures, 2) Description of the population with Rett syndrome and 3) Development of a health-promoting intervention that focus on ‘uptime’ – that is standing and walking activities.
1) First of all it has been important to establish a toolbox of valid and reliable outcome measures and we have been involved in the validation of several outcome measures (Functional Mobility Scale – Rett Syndrome, Two-Minute Walk Test, Rett Syndrome Gross Motor Scale, ActivPAL, Quality of life inventory – Disability). Building the repertoire of outcome measures is valuable to both researchers and practitioners for intervention studies and clinical monitoring.
2) Secondly, we have described the patterns of sedentary time and steps across ambulation levels in 48 girls/women with Rett syndrome aged 5-60 years. On average 83.3% of waking hours were spent in sedentary behaviors (n=48) and the median daily step count was 5128 (n=28). Advancing age and poorer walking skills were associated with higher levels of sedentary time.
3) Finally, we have focused on the development of an ‘Uptime participation’ intervention which was evaluated in 14 girls/women with Rett syndrome aged 5-48 years. This intervention focused on participation in enjoyable activities to promote ‘uptime’ in home, school/day center and community settings. Primary outcomes were sedentary time and daily steps. Some of the secondary outcomes were walking capacity and quality of life. Significant positive effects were seen after the intervention in sedentary time (-4.1%), daily steps (+708 steps), walking capacity (+18.9m) and quality of life (+2.8 points).
Lotan Meir M.Sc.PT Ph.D. is a physical therapists from Israel. He´s working with girls with Rett syndrome over the past 26 years. He is a part of the Israel national evaluation team and has given consultations to about 500 girls with Rett syndrome across the globe. He works as a physical therapist with 15 girls on a regular weekly basis. He has written 30 articles and 4 books on Rett syndrome, and has done many research programs on this topic.
PHYSICAL THERAPY INTERVENTIONS IN RETT SYNDROME
The presentation will describe appropriate physical therapy and physical activity programs in individuals with RS such as:
- A functional and physical fitness improvements due to a daily treadmill, training program with children with RS
- The results of a two year follow up on an intensive program through the Conductive Education (Peto) method
- The results of an intensive regime for scoliosis at different ages
- Sensory insights into Rett syndrome
- The results of a home program
- The results o f a remote rehabilitation program
The presentation will suggest that intensive programs executed on a daily basis are capable of improving function, physical fitness, and outcome of scoliosis in children with RS. The presentation also suggests that such intensified programs can be executed by non-professional personnel, under the supervision of a qualified physical therapist.
WALKING IN RETT SYNDROME
The presentation will discuss different topics related to walking in Rett syndrome:
- Enhancing walking ability in young children with RS and CDKL5 using the UpSee device.
- Independent walking and loosing walking ability in RS over the years
- Treadmill training for improving function and physical fitness in RS
- Regaining walking ability in an adult with RS after losing walking ability.
- Enhancing walking ability in a woman with RS using ABA method.
Significance: The different research projects and case studies suggest that walking can be administered even in severe cases of RS, it can improve core element characteristics of RS, it can be regained in specific situation after it has been lost, and can be enhanced in individuals with RS who prefer to avoid walking.
The presentation suggests specific tool for paraprofessionals working with this population to implement similar programs due to the importance of an active life style for those with or without disabilities.
Stefanie K. Sachse
Stefanie K. Sachse, Ph.D., studied special education, specialized in AAC; work experience in AAC consultation and intervention, teaching at the university, working in several research projects; currently working remotely for the University of Cologne; special interests are vocabulary selection, and literacy in AAC. Speaker at several European and international conferences.
Emergent Literacy for Girls with Rett Syndrome. Overcoming Limiting Beliefs
Both research and experience provide a wide range of information on literacy intervention for girls with Rett syndrome. While we learn about emergent literacy activities, about tools and programs, one of the most prominent barriers for high quality literacy intervention are the limiting beliefs of their teachers, therapists and doctors. Even though Rett syndrome is often associated with a variety of special needs, this does not imply that the girls cannot learn. They can. We do have the tools, we have the knowledge and programs, but we have to belief that it is possible – otherwise we restrict learning opportunities.
This lecture will address some of the activities, the adaptations, the tools and programs (Skotko et al. 2004; Koppenhaver et al. 2001; Erickson & Koppenhaver 2007; AbleNet 2004; Erickson & Hanser 2008; ), but also the topic of prerequisites or readiness skills (Erickson et al. 2009). Here, the emergent literacy viewpoint provides a different understanding and approach (Teale & Sulzby 1986).
If there is a prerequisite for literacy – it is the belief that everyone can make progress on his or her literacy path and learn to the best of his or her ability. In line with the “Literacy Bill of Rights” it is our responsibility and obligation to provide a wide range of high quality, i.e. evidence-based, individualized and meaningful literacy activities.