Many children have global developmental delays (e.g. cannot sit, walk, talk, feed themselves) and complex medical issues including severe neurological and respiratory issues. Most individuals are completely dependent on caretakers for every aspect of their care.
Bohring-Opitz Syndrome (BOS/ASXL1), Bainbridge-Ropers syndrome (BRS/ASXL3), and Shashi-Pena Syndrome (SPS/ASXL2) are under diagnosed due to challenges recognizing the diagnosis, shortage of genetics services, and the cost of genetic testing.
These children have complex clinical issues and often see specialists who do not have the knowledge or experience to properly manage their care due to the rarity and unknowns of their syndrome. There are few evidence-based publications for reference and signiﬁcant unknowns about the mechanisms behind ASXL syndromes.