Tests and therapies
Recommended testing
Our scientific advisors recommend the below tests are carried out after a BBSOAS diagnosis:
Developmental assessment for early intervention
Comprehensive psychological evaluation for autism spectrum disorder (ASD), autism diagnostic interview-revised (ADI-R), and autism diagnostic observation schedule (ADOS) by a certified clinical psychologist
Brain MRI at age three or older
Full, dilated eye examination by an ophthalmologist every two years
Full hearing evaluation every two years
Therapies
Most of our children with BBSOAS benefit from regular therapies. These include, but may not be limited to:
Occupational therapy
Physical therapy or physiotherapy
Speech therapy
Vision therapy
Applied behavior analysis (ABA) therapy
Music therapy
Hippotherapy (horse based therapy)
Registering a patient with the NR2F1 Foundation
We want to keep track of the number of diagnosed cases around the world, so that we can share this with you and our community of scientists and researchers.
By registering with us, you’ll also receive important and helpful communications from the NR2F1 Foundation.
Learn moreUnderstanding BBSOAS guides
In 2024, we partnered with the UK charity Unique to publish three guides to BBSOAS. The three versions are aimed to cater to all levels of understanding.
Full BBSOAS guide - a robust guide to BBSOAS/NR2F1 for anyone looking to understand BBSOAS and the NR2F1 gene more comprehensively
'My Chromosome Story’ booklet - aimed at children. This can be used to start explaining a child’s diagnosis to them at a young age. It’s also helpful for siblings and classmates
‘Easy Read’ guide - aimed at BBSOAS patients who may need a shorter version of the full guide
We’ve also produced a handy one pager explaining BBSOAS for families and medical providers. Some families find these useful to take along to appointments.