What is Bohring-Opitz syndrome?
Bohring-Opitz syndrome is a very rare genetic disorder caused by a mutation in the ASXL1 gene on chromosome 20. It is a neurodevelopmental disorder that is associated with a variety of physical and mental symptoms.
The most common features include mental retardation, growth retardation, facial anomalies (such as a prominent forehead, a wide nasal bridge and a narrow mouth) and heart defects. Those affected also often have speech delays, motor disorders and, in some cases, epilepsy. In many cases, cognitive and behavioral problems such as anxiety, aggression or autism-like symptoms can also occur.
The disease is usually sporadic, which means that it is not necessarily inherited, but is caused by a random genetic mutation. There is no cure for Bohring-Opitz syndrome, but treatment focuses on symptom control and supporting the development of the affected person through physiotherapy, speech therapy and occupational therapy. Prognosis varies, but early intervention can help to improve quality of life.
Aids that are frequently used for Bohring-Opitz syndrome:
Aids and support for everyday life
Due to the complexity of Bohring-Opitz syndrome, early and comprehensive provision of aids is crucial to facilitate care and stabilize the child:
- Positioning & positioning: due to the specific joint postures and often low muscle tone, individually adapted positioning cushions and special therapy chairs are essential. They help to prevent contractures (stiffening) and enable a secure position during feeding.
- Support for feeding disorders: As reflux and swallowing difficulties can often be life-threatening, aids such as anti-reflux cushions, specialized teats or, if necessary, mobile feeding pumps (for tube feeding) are important companions.
- Mobility aids: Depending on motor ability, rehab buggies or wheelchairs with stabilizing seat shells provide support. These offer the child safety and enable participation in everyday life despite muscle weakness.
- Safety with epilepsy: If seizures occur, epilepsy sensor mats for the night and safety helmets for the day provide important protection against injury.
- Communication aids: As speech development is usually severely delayed, simple buttons or symbol-based communication aids can help to express needs
Learn more
You can find more helpful information about Bohring-Opitz syndrome here:
www.orpha.net