Table 3. [PRS Deficiency: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Developmental delay / Intellectual disability	See Developmental Delay / Intellectual Disability Management Issues.
Musculoskeletal/ Activities of daily living	Orthopedics / physical medicine & rehab / PT & OT incl stretching
Hearing	See Genetic Hearing Loss Overview, Management. Cochlear implantation in 2 affected males was assoc w/improved communication skills.	Community hearing services through early intervention or school district
Ophthalmologic involvement	By ophthalmologist	Treatment of refractive errors &/or strabismus
Low vision services	Children: through early intervention programs &/or school district Adults: referral to low vision clinic &/or community vision services
Respiratory	By pulmonologist &/or infectious disease specialist	Consider prophylactic antibiotics where appropriate.
Family/Community	Ensure appropriate social work involvement to connect families w/local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.	Ongoing assessment of need for palliative care involvement &/or home nursing Consider involvement in adaptive sports or Special Olympics.

Manifestation/Concern

Treatment

Considerations/Other

Developmental delay /
Intellectual disability

See Developmental Delay / Intellectual Disability Management Issues.

Musculoskeletal/
Activities of daily living

Orthopedics / physical medicine & rehab / PT & OT incl stretching

Hearing

See Genetic Hearing Loss Overview, Management.
Cochlear implantation in 2 affected males was assoc w/improved communication skills.

Community hearing services through early intervention or school district

Ophthalmologic involvement

By ophthalmologist

Treatment of refractive errors &/or strabismus

Low vision services

Children: through early intervention programs &/or school district
Adults: referral to low vision clinic &/or community vision services

Respiratory

By pulmonologist &/or infectious disease specialist

Consider prophylactic antibiotics where appropriate.

Family/Community

Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

Ongoing assessment of need for palliative care involvement &/or home nursing
Consider involvement in adaptive sports or Special Olympics.

From: Phosphoribosylpyrophosphate Synthetase Deficiency

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