My child's symptoms: what is it?
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)
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!
Last edited by jeri L.; 04-03-2010 at 04:29 PM.
Reason: forgat to add something