Aa
Aa
A
A
A
Close
Avatar universal

My niece's condition has baffled everyone

I have a 4 1/2 yr old niece. She has always been a very late bloomer. She did not crawl or roll over until she was about 18 months. She didn't walk until a little after 2 yrs old ,when her younger brother at 1 started walking. She made a lot of sounds till she was 3 but said no real words. She motioned a lot and yelled for things she wanted and she did cry normal. Doctors have tested her by means of checking her chromisoms and catscan's but so far have no real idea what is wrong with her. One doctor did come up with a couple of idea's but could not properly diagnose her for some reason, I think she was missing one of the symptoms and I don't remember what it was called. Now, at 4 yrs old she is almost potty trained and she can say more words. She still cannot hold a conversation or explain things, but she does point to things and name them. She walks but she doesn't really run and she is still wobbly. Recently my brother told me the doctor put her at the level of an 18 month old baby. She attends special ed preschool and speech therapy. Her younger brother seems fine and he is 3. He talks up a storm and runs all over the place and seems very smart. I am deeply concerned for my niece and am wondering howcome all of these doctors are taking so long to figure this out. I would like to know if this is something she will grow out of, or something she may need more treatment for. I know she needs help but no one knows how to help her, maybe I can get some ideas here. Thanks.
7 Responses
Sort by: Helpful Oldest Newest
Avatar universal
Another condition that has many of the characteristics of autism is Fragile X Syndrome, the leading genetic cause of mental impairment.  It is a single gene disorder that can be passed to children by one parent.  If the mother is the carrier, then her sons or daughters will have a 50% chance of inheriting this condition.  If the father is the carrier, then only his daughters will also inherit the premutation form of fragile x.  

Many children with fragile x also have a seizure disorder, developmental delay and ADD/ADHD.  For more information, visit www.fragilex.org and www.fraxa.org.  The MIND Institute in California is a premier scientific resource for both autism, fragile x and other related conditions.  Our daughter (now 33) was first diagnosed with autism at age 3, but at age 12 was found to have the full mutation of fragile x.  In the past 5 years, my oldest brother,& his two daughters, our mother, her elderly sister and oldest son  tested positive for the premutation form of fragile x.  Now we have closure as to the reason many of us struggled in school.  Do look into this syndrome which requires a specific genetic test, not usually included when testing for Down syndrome and other conditions.  
Helpful - 1
Avatar universal
I really do appreciate u for sharing that with me. My mind went back to when my son was tested for Fragile X in 2007. It was negative but, they said something about it was not a certainty of it. As of today I am in the process of getting him tested again. I went to the web sites and found that my son does have several of the symptoms. He also has some new things going on with him. I will try to keep u posted on what is going on with him. Again I really do Thank U because we as parents we just don't know and I have had some thoughts about the first test that was done that bother me. I am not claiming anything and again I know that I cannot sit back in denial about it. Bless U!! Lawanda
Helpful - 0
Avatar universal
Get a second opinion from another doctor. I have an 8yr old son who has Autism and he shows emotion at times. He is developmently delay, with seizures, and ADHD. At times he has trouble with expression. He can talk very well but, will point at times. My son loves to hug people and he repeat things also. He takes occupational and physical therapy because he is behind. He is at a 3 to 5 yr level on different levels. He was tested in Memphis, TN and diagnosis July 08 by a doctor name Dr Vicky Brewer. Some doctor misdiagnosis kids and some just do not know what they are doing. I am not a doctor but, it sounds like Autism to me because my son does the same thing. Get her some help now while she is young. It is a daily challenge but, you can do it. Bless You and the baby. Lawanda
Helpful - 0
Avatar universal
She doesn't really change in preschool. She is not catching up with the other kids and she hits other kids a lot because she can't express things that are going on or her emotions. My brother has gone through several doctors and none so far have came up with anything solid. I have heard recently that they are going to be doing a breakdown of her dna for further research on her.
Helpful - 0
Avatar universal
I would get a second opinion in terms of diagnosis

Also, how does she do in pre-school? Is she improving? Regressing? Does she get occupational therapy and physical therapy?
Helpful - 0
Avatar universal
I would get a second opinion in terms of diagnosis

Also, how does she do in pre-school? Is she improving? Regressing? Does she get occupational therapy and physical therapy?
Helpful - 0
Avatar universal
They ruled out autism because she does show emotion,

She can only show extreme laughing or extreme displeasure. She will laugh very hard or hit and cry when she is upset. She loves babies but just hugs for a very long time. Not sure if thats part of emotions. She will repeat a word over and over until someone responds, and her speech clarity is not very good. She has been tested for hearing but 2 tests were inconclusive for one reason or another. She doesn't seem to mind that her brother is doing many things that she can't. She doesn't stay focused on things very long unless its a cartoon she likes. She can feed herself but falls asleep often while eating.

Thats all I can think of , maybe its something you've heard of.
Helpful - 0

You are reading content posted in the Autism & Asperger's Syndrome Forum

Didn't find the answer you were looking for?
Ask a question
Popular Resources
Fearing autism, many parents aren't vaccinating their kids. Can doctors reverse this dangerous trend?
Yummy eats that will keep your child healthy and happy
What to expect in your growing baby
Is the PS3 the new Prozac … or causing ADHD in your kid?
Autism expert Dr. Richard Graff weighs in on the vaccine-autism media scandal.
Could your home be a haven for toxins that can cause ADHD?