View Full Version : My child's symptoms: what is it?

jeri L.
04-03-2010, 04:23 PM
Here is a list of my child's symptoms, can anyone relate? Any ideas what it could be?

Birth history: Normal pregnancy, born to term, healthy (8+lbs), normal head circumference at birth. Apgar scores all 9s and 10s. Appeared to be developing normally first 8 months of her life.

First indication of any issues was a grand mal seizure at 8 months old.

Then by 15 months old it was determined that she had:

Global developmental delay, delayed and impaired speech, Severe intellectual impairment; severe mental retardation
NO regression of skills; only progression over the years- she is 20 yrs now...
Seizure disorder, generalized tonic-clonic and myoclonic with tremulousness and difficult to control
Easily excitable personality, bursts of laughter often with hand-flapping movements, hypermotoric, short attention span
Extremely social seeking personality- will hug anyone even perfect strangers and is very engaged
Microcephaly (normal size head circumference at birth, but then fell to 5 percentil by age 2)
Ataxia of gait, poor balance, low muscle tone as infant/toddler, delayed in walking and still walks with an unsteady gait
frequent and excessive drooling, poor oral motor control as infant/toddler/early childhood- still doesn't like to chew food
Wide based gait, feet apart and turned out
Walks with arms up and flexed at elbows and wrists
Disrupted Sleep disorder (often awakens between 2 and 4 a.m. and stays awake, often without napping the next day and will awaken this way for several consecutive nights in a row- appears to function normally and doesn't appear totally sleep deprived as a result although I get sleep deprived because I have to stay up with her to keep her safe)
Scoliosis (mild-2+%)
Hyperflexia- greater in the lower limbs than in the upper
Fascination with/attraction to crinkly plastic or paper items/turning pages in books/carrying books around (she does NOT have autism)
She is only habit trained, not toilet trained. Need help with all self-help skills, dressing, eating, etc...
She can never be left alone unsupervised for her own safety.

Note- We have recently gone to genetics and the geneticist doesn't think she has Angelman Syndrome due to her increased/expanded single word vocabulary and frequent 2 to 3 word sentences that she has learned to piece together over the years, so wondering if anyone else might have a really good idea of what to test for.

Please, any input would be great at this point. Thanks!

11-11-2011, 10:05 PM

I don't know if you are still on this board or not, I just signed up myself, the characteristics of what you describe sure sound like Angelman sydrome, my daughter is 20 and has Angelman Syndrome, if you happen to still be on this board, let me know, would love to chat!