What is trisomy 13 (Pätau syndrome)?
Trisomy 13, also known as Pätau syndrome, is a rare genetic disorder in which an additional chromosome 13 is present. Affected children show severe physical and mental developmental disorders. Typical characteristics include heart defects, malformations of the brain, face and hands, and often severely delayed motor and mental development. Many children have concomitant diseases such as epilepsy, visual or hearing disorders.
Aids that are frequently used for trisomy 13 (Pätau syndrome):
Aids and support for everyday life
As the health challenges associated with trisomy 13 are very complex, the focus is on providing loving, palliative or stabilizing care. Tailor-made aids can help to alleviate pain and make care easier:
- Positioning & comfort: due to the often low muscle tone and sensitivity of the body, specialized positioning systems and soft nests are important to provide a safe and secure position for the child.
- Respiratory support & monitoring: Mobile monitors (pulse oximeters) are often used due to frequent breathing stops (apnea) and heart defects. In the case of swallowing disorders, suction devices may be necessary to keep the airways clear.
- Feeding aids: Specialized teats (e.g. for cleft lip and palate) or mobile feeding pumps for tube dependency ensure calorie intake and relieve the burden on parents.
- Safety in the bathroom: bath couches or small shower aids with padding enable gentle personal hygiene with limited head control.
- Sensory stimulation: Soft light sources, tactile materials or toys with strong contrasts can help to stimulate the remaining senses (sight/hearing) in a playful way.
Learn more
You can find more helpful information about trisomy 13 (Pätau syndrome) here:
www.orpha.net