Shaan was diagnosed with Syngap1 in November of 2017. He was born on March 1, 2004. He is an East-Indian male. He was 6 pounds and 6 ounces and it was a normal delivery. His APGAR scores were 8/8. He was breast-fed and then added in formula and some solid food such as baby Gerber rice around 5 months. It was around 6 months that our pediatrician was concerned that Shaan was not meeting his gross-motor milestones such as rolling over and sitting up properly. He wasn't really making eye contact, not babbling consonants, etc.. Around age 1, we enrolled Shaan in early intervention and had a panel of genetic testing, all which came back negative. His MRI also came back normal. Our neurologist diagnosed him as PDD-NOS and which allowed us to enrolled Shaan in our town's special needs program.
Currently, as a 15 year old Shaan is nonverbal with some gross-motor delays and overall hypotonia. He can walk, run not really jump or skip. He communicates basic needs with an I-pad using Apple's Proloquel. As of now, he has not had a seizure that we are aware of and we do look for the staring seizures as well. He loves to swim, go for walks, go for car rides, and spin on the floor. He is a picky eater and is short and thin for his age. He sleeps through the night and is extremely grouchy in the morning. He is very sensory seeking and craves deep pressure and high rigorous movements like swings. He functions with repetition, praise and verbal behavior with gestural prompts. In addition to us as caretakers, he has his 12 year old brother 2 other routine sitters.