What is Kleefstra syndrome?
Kleefstra syndrome is a rare genetic disorder caused by a mutation or deletion in the EHMT1 gene. It is characterized by severe mental retardation, delayed speech development (many children do not speak at all or only a few words) and hypotonia (low muscle tone). Other characteristics may include heart defects, sleep disorders, autism spectrum symptoms and frequent infections.
Aids that are frequently used for Kleefstra syndrome:
Aids and support for everyday life
As Kleefstra syndrome affects many areas of development, targeted aids support children's independence and safety:
- Augmentative and Alternative Communication (AAC): as spoken language is a major barrier, talkers (speech computers), tablets with communication apps or symbol-based boards are essential. They enable the child to express their needs and reduce frustration.
- Stability & mobility: In the case of pronounced hypotonia, individually adapted therapy chairs that provide support for the trunk help. Rehab buggies or specialized tricycles (to strengthen the muscles) may be necessary for locomotion.
- Safety when sleeping: Due to frequent sleep disorders and an increased need for safety, care beds with high, padded side panels are often a great help in preventing night-time wandering or injuries.
- Sensory integration: Many affected children benefit from weighted blankets or compression vests, which help them to become more aware of their own body and calm down in stressful situations.
- Orthopaedic support: Custom-made insoles or orthoses for the ankle joints can be useful to stabilize the gait pattern if the muscles are weak.
Learn more
You can find more helpful information about Kleefstra syndrome here:
www.orpha.net