Shannon is an amazing 12 year-old girl. She is a joy to be around. Every day I am with her she makes me smile. Shannon has Phelan-McDermid Syndrome (PMS), a genetic disorder, which causes her to have autism. This has created a lot of hurdles and difficulties for Shannon, but it does not change who she is: a very strong-willed, but sweet girl. Here is more about Shannon and PMS:
Diagnosis: autism caused by the genetic disorder Phelan-McDermid Syndrome
Phelan-McDermid Syndrome (deletion of 22q13):
· Associated with intellectual disabilities, sleep disorders, and seizures
· Common symptoms: very low muscle tone, poor motor control, problems with eating and
sleeping, language disorders, poor thermoregulation, dysplastic finger or toenails
· pmsf.org
Diagnosis: autism caused by the genetic disorder Phelan-McDermid Syndrome
Phelan-McDermid Syndrome (deletion of 22q13):
· Genetic syndrome caused by disruption of SHANK3 gene on chromosome 22
· Highly associated with autism and autism spectrum disorders· Associated with intellectual disabilities, sleep disorders, and seizures
· Common symptoms: very low muscle tone, poor motor control, problems with eating and
sleeping, language disorders, poor thermoregulation, dysplastic finger or toenails
· pmsf.org
Family:
Parents: Megan & Michael Siblings: Kevin (17) & Sean(15)
Safety Issues:
· Turns water to hottest point
· Will leave house if doors are not locked
· Tends to eat too fast
· Will eat wrapping on food (ex: will eat plastic around rolls to get to food)
· Insensitive to pain, so might burn or injure self and not be aware
· Looking out the window
· Jumping on trampoline
· Walking/running outside
· Swinging outside
· Going up/down slide
· Going through tunnel
· Watching TV
· Horseback riding
Shannon at the Playground
Shannon watching TV in the morning