Is Angelmans syndrome possible?

Jessica - posted on 10/17/2014 ( 3 moms have responded )

3

0

1

My son is 22 months old and has staarted to do things that are a bit concerning! I recently witnessed him have a seizure as well as multiple absence seizures, and found a bulge in the back of his head and is growing. I think the bump has always been there but I thought it was from my c-section and thought nothing of it. It has grown bigger and it is noticable now and coming through his curly brown hair. He also has not begun to speak and is very aggressive when he is tired or doesn't get his way, or becomes frustrated. He is an absolute angel and is always happy and smiling, but also can be a little terror. He will suddenly begin rippping the room apart and throwing his toys. I began looking into different answers for why he acts the way and he does match MOST the criteria except that he is very good with his fine motor skills, no tremors, and he can run like lightening. Is there such thing as "high functioning"? I'm just looking for advise or some guidance in the right direction.

3 Comments

View replies by

Chet - posted on 10/18/2014

2,093

0

587

I've only know of two kids with Angelman's. I didn't know them, just sort of knew people who knew their families.

I don't think you can have high functioning Angelman's. The global and profound developmental delays are central to the disorder.

Usually the diagnosis happens when the developmental delays are noted along with the other characteristics (balance problems, distinctive physical features, etc). Then genetic testing can be used to confirm.

I'm no expert, but "Angels" sometimes have a flat spot on their head, not a bump.

In any case, if your son is having seizures you definitely need to be working closely with your doctor.

Jessica - posted on 10/18/2014

3

0

1

Yes I have, and we have gone to a Neurologist. Next is a 24 hour EEG but the doctors have been very honest in that this is a baffling situation. Everything that makes him seem "different" he counteracts it with excelling in other areas. But I mean we are talking the aggression, oral fixation, water obsesstion, grunting and pointing but not talking, PICA ( he has been trying to eat the rails on his crib) he throws toys at the walls, and at people if he becomes frustrated, he hits his head on the wall or floor when having a temper tantrum. They have said we will run tests but no ideas except for early intervention have been mentioned.

Join Circle of Moms

Sign up for Circle of Moms and be a part of this community! Membership is just one click away.

Join Circle of Moms