Xtraordinary Joy Resources Page
Resources
Xq27-q28 DELETION
Possible symptoms
- Low muscle tone resulting in delayed crawling, walking
- Sensory Processing Disorder
- Gag reflex, swallow difficulty, sucking difficulty, oral aversion, teeth grinding
- Drooling
- Chronic sinus and ear infections
- Autism; non-verbal
- Seizures
- Intellectual disability
- Constipation
- Some families have reported breathing issues, organ anomalies, growth problems
Underlying disorders within deletion
- Fragile X Syndrome due to FMR1 gene deletion: Fragile X Syndrome
- Hunter Syndrome (Mucopolysaccharidosis II) due to IDS gene deletion: Hunter Syndrome
University of Florida scientists are teaming up to examine the effects of gene deletion on biochemical pathways and attempt to rescue brain circuitry with targeted therapies.
University of Florida College of Medicine
Local (Gainesville, FL) Resources and Partnerships:
- GiGi’s Playhouse Down Syndrome Learning Center
- Celebration UMC Respite Nights
- Center for Autism Related Disorders – CARD
- Early Steps
- Family Café
- UF XJOY Student Chapter
- Night to Shine Special Needs Prom
- Alachua County Special Needs Facebook Group
- Rare Genetic Syndrome Facebook Support Group