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Name: Lulu
[ Original Post ]
My nephew is 1 years old and at 4months was found to have global developemental delay, His symptoms since birth include hypotonia/poor muscle tone (unable to even sit by himself), visual and hearing problems, undistended testicals, GI problems with reflux and unable to tolerate milk and wheat products, doesn't show much emotion to pain or really cry much. all tests have come back negative. I'm hoping that maybe someone else has been were we are now and might have some information that could lead us to a diagnosis. Thanks!!!
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Name: jenleewashere | Date: Dec 5th, 2006 4:16 AM
Have you contacted Early on or Infant Early On. Every state might call it something different. What tests have you had done? My son has the global delays, poor muscle tone, GI problems, was lactose intolerant, and he is severly autistic and severly mentally impaired. He wasn't formally diagnosed until about 4. Alot of doctors hesistate to "label" a child at such a young age, so they call them Devolpmentally Delayed. My daughter has delays in the moderate range, low muscle tone in some areas, she had reflux and colic, both my kids did sit up and eventually walked at about 19-24 months. My daughter is autistic and moderately impaired. This will give you an idea on how some kids have the same issues but end up developing and end up in different functioning levels. If you have any questions feel free to ask, I will try my best to help. 

Name: Kim Mori | Date: Dec 15th, 2006 5:18 AM
Hi Lulu! It sounds like Cerebral Palsy to me, I'm no Doctor but hasn't any Doctor diagnosed the child yet??????? 

Name: mollyf | Date: Jan 29th, 2007 1:31 PM
I can't believe this! I hope you're still checking this site! The description you gave of your nephew sounds EXACTLY like my son! I am in the same boat, exact same symptoms, he's a year old and no diagnosis (all our tests are negative as well). I haven't heard these exact symptoms described anywhere else. Have you gotten a diagnosis yet? I constantly search the internet and we are still running tests, with no answers. If I get anywhere, I'll be sure to post it! Good luck! 

Name: anjelsin | Date: Jan 29th, 2007 5:03 PM
Has there been a brain scan done? It does sound alot like CP but if there is brain damage it could cause other things. I do know that under developed GI systems lead to intolerance. Cow dairy is very hard on the little ones bellies. My daughter has severe reflux. Was your nephew early? 

Name: mollyf | Date: Jan 29th, 2007 6:18 PM
If LuLu's nephew is as much like my son as I think...
The brain scan's came back normal, chomosome blood tests, normal, hearing and vision is technically perfect, but the brain does not interpret the information received from the eyes and ears. I've asked about CP, but everyone says no. My son was full term, but was breech until about 10 hours before delivery, at which time he flipped over by himself. 

Name: mollyf | Date: Feb 1st, 2007 1:44 PM
I hope you're still reading this! We have a diagnosis! Our pediatric neurologist was very aggressive and send our sons blood work to a special lab in Berkely, CA for a very sensitive chromosome test. He has Angelmans Syndrome. It's a problem with chromosome 15 and can only be detected with a very sensitive test. Thats why our previous chomosome blood tests came back normal. Good luck to you! 

Name: sweetcaramalkiss | Date: Feb 1st, 2007 11:18 PM

Was the test called like a cbh hgb or something like that my son has seen a genetic/metabolic specialist and the test was a very big test that was going to like measure every tiny bit of each chromosome and took a few months to come back just wondering if it might have been the same test you are talking about 

Name: rachtwins | Date: Feb 3rd, 2007 10:10 AM

Name: suzi | Date: Apr 5th, 2007 2:56 AM
my son has hypotonia and poor muscle tone and he had trouble walking until he was almost two. what helped him was horse therapy. they do therapy on horses and it stimuated him to walk. if you have an early childhood person see if they can refer him. My son also has severe food allergies do a blood test to see if he has any other allergies ..it really affects functioning. I would take him to a neurologist. I am having a hard time having a diagnosis also but it does help. 

Name: rozella ely | Date: Apr 7th, 2007 2:08 AM
Dear Lulu,

My son was diagnosed when he was 4 years 11 months old from Children's Hospital in Cincinnati with global developmental delays, disruptive behavior disorder and had a "low probability for autism". Global developmental delays is essentially a catch all term for developmental delays in multiple areas. He had his last year of pre-k (3rd) year and then the bomb on school behavior exploded when he transitioned into kindergarten. I took him to local pediatricians and they diagnosed him ADHD. They referred him to local psychiatrist whose specialty was austism and he was diagnosed with Autistic Spectrum Disorder on the higher end.I wonder what tests have come back negative. I will tell you that my son will tear his hands up on the monkey bars and get splinters into the 2nd layer of skin and will continue to repeat the behavior. He has a high tolerance for pain. I have also heard that wheat products aggravate autistic kids. I have taken work shops on brain development and muscle tone. Can you tell your nephew's parent (s) to listen to Mozart and have your nephew to lay on his belly to strenghten his back muscles and develop his reflexes. Could you also support the babies back and put his legs spread apart in the front of him and put his opposite hand to touch his opposite leg. The brain researchers said that crossing the middle of our body makes both hemispheres of the brains to work. The laying on belly strengthen's the back, crossing over works both brain sides; can he get on his fours to work on crawling? The crawling helps develop both sides. Can you help him do it so that he can strengthen. *A friend of mine son couldn't sit by self. Her son had scoliosis both ways and a tethered spinal cord to his spine. Has this been ruled out? This would definitely affect inability to sit independently. Irregardless of diagnosis, the global developmental delay should get your nephew Early Intervention services through the Help Me Grow federally funded program. If your nephew ends up with an autistic label; at least he should be enrolled in some form of early intervention. Check your local Educational Service Center to get someone on this. The next steps would be follow through with the early intervention, check into the special education preschool in a center based program to help transition into school age program. I would say stick with the catch all term "global developmental delay" to help get some early intervention. Maybe later on as speech development milestones come and go maybe other labels can be given. I am a teacher with a special needs child. Don't give up! Early intervention helps.
-God bless and good luck Lulu!

Name: mtene5 | Date: Apr 8th, 2007 2:29 AM
My daughter has symptoms similar to your nephews and even though she is not officially diagnosed I believe she has Angelman Syndrome. Extreme hypotonia, no speech or comprehension, intolerance to milk, constipation, scoliosis, sat around one, walked around two, and just developed vision problems, exotropia, almost overnight which I believe may have been caused by a seizure because her eyes were fine one day and turning in all different directions the nest. She is mentally disabled and has hardly any emotion, but does go through moments of hysteria and is laughing at absolutely nothing.
The brother syndrome to Angelmans is Willi Prader syndrome which is a little different then Angelmans but is caused by an abnormality in the same chromosone, 15. I have heard that the undistended testicle is a symtpom of Willi Prader in a large percentage of the males who have this disorder. Hope this information was helpful 

Name: rachtwins | Date: Apr 9th, 2007 11:35 AM
Its just another name for Autisum they just don't say it because his to young to be diagnosed to cover there own butts. 

Name: mtene5 | Date: Apr 9th, 2007 10:56 PM
What is another fancy name for autism? I hope you are not talking about Angelmans because I have an autistic child and a child with Angelmans and they are very different. 

Name: carrots | Date: Apr 29th, 2007 6:30 PM
find a good geneticist and neurologist. my son exhibited almost all of these symptoms and it took five years to find a very rare but true to him diagnosis and he is now receiving treatment and he is a completely different human being 

Name: Gill | Date: Jun 12th, 2007 3:23 PM
Hi i can sympothise with you my son is 22 months old he has developmental delay he also cant see very well not spoke a word yet doesnt put any weight onto his legs we have had all the tests done but nobody can tell us whats wrong with him i have a useful website you can visit its called swan (syndromes without a name) its very usefull

hope this helps slightly gill 

Name: JOANNE | Date: Jan 26th, 2008 9:58 PM
My son has also global developmental delay. He was diagnosed at 1 yr. He has most of the same syptoms. Didnt start walking until 23 months and was getting alot of physio. Very low consontration skills. I think there is more to this actual condition but wont give u the full story. My son also has a low air way in his nose, but refused to opperate because of his condition or worried that he would make it alot worse. They are still running tests but all came back negative. 

Name: JOANNE | Date: Jan 26th, 2008 10:04 PM
Gill did u ever get physio for your child, cause my son wouldnt stand, crawl or walk. They gave him exercises to strenghten his muscles and it really helped alot. Give it a try 

Name: Annie | Date: Jan 29th, 2008 5:16 PM
Many of those symptoms go along with the syndrome that my son has...it's called Cornelia de Lange (CdLS). You can read up on it at www.cdlsusa.org. It's very rare, but nearly all children with it have reflux and developmental delays. There is a huge range in how affected a child can be though. It's diagnosed clincally, so if your ped. isn't up on his stuff, it could easily be missed. What do his eyebrows look like? Are they thick and well defined? Do they meet in the middle? 

Name: colleen | Date: Feb 17th, 2008 2:29 PM
reading over the symtomes it may be charge syndrome. i dont know if he was beein tested for that yet though. let ne know how it goes. 

Name: Susan | Date: Mar 22nd, 2008 7:03 PM
Hello, Seems like you just described my nealy 8yr old boy! To me my first thought would be Bardet Biedel Syndrome but then not really. Currently my son is being tested for Klienfelter Syndrome as well as Fragile X Syndrome.

When I look at my son I honestly believe he has Chromoshom X problems so he's currently seeing a genetisist. He was diagnosed with EVAS Enlarged Vestibular Aqueduct Syndrome that is a birth defect of the inner ear that has cause deafness. He was also tested for but came negative with Pendred Syndrome.

My advise to you would to have mom and dad take him to a genetics specialist where they can being the LONG process of testing... We many also never get true answers to what is going on.

When my son was 4 he really couldn't talk but babble. Now at nearly 8 yrs old with help we can understand his speach but his IQ is 74... He's very high functioning though. But, we just take him in for testings often.

Good luck to you and remember that we can google all we want but with me I found many symptoms but not all fit. Like Bardet Biedel Syndrome he fit everything except the phterodactyl aspec of it.... 

Name: ivorysmom | Date: Mar 25th, 2008 11:28 PM
my name is cassandra, my little girl is 2 1/2 and delayed , mild MR....she has low muscle tone and about 3 months ago started to hop like a frog to get around...she didn't sit up till she was about 14 months...i got a boncer seat and put her in it alot so she bounced it and built her stomach muscles then started sitting....she is on lactose free dairy ease milk...it's at walmart...I know it's frustrating when you don't know anything ...onlything i can say is look into the services in your area..the disability clinic there...i hope it's helpfull...your not alone...you just love them and take care of them ...my little girl don't walk or talk yet..but she is making progress with therapy 

Name: Kangagurl_63 | Date: Apr 2nd, 2008 1:37 PM
Our son had all the tests done by a leading geneticist at 18months old, they were all negative just like your son. He was diagnosed with his hospital photos the diagnositc facial resemblance factor for Cornelia de Lange Syndrome 35-1/2 years ago,and he's a syndrome sufferer. He is very healthy and has no medical problems. See a geneticist if you are not happy, it will be very helpful and relieving to know. Hope this helps you. Good Luck! (Just type in my name and you will see him on our homepage) see for yourself. It's a mess presently done by others so you won't see lots of the photos that were with stories until I get around to re-doing the site. 

Name: MAHDI | Date: Apr 9th, 2008 8:15 AM

Name: kelly | Date: Jul 8th, 2009 9:24 PM
hi my daughter has the same problems we still havent got any answers .have you asked if its cerebal palsy . 

Name: Joy | Date: Aug 11th, 2009 7:25 PM
He sounds like he has lots of different issues. I taught special needs kids for 25 yrs. Now that I have my own health problems and can't work I have been searching for a really good therapy. I found it! Check out Feldenkrais,the child friendly form is called Anat Baniel Method for Children. Check it out online. If you are within traveling distance to Toronto ON there will be a Free Children's Clinic on Oct. 17. There are other FCCs around. Check for someone who does the method close to you. I have seen many kids make great progress! It has certainly helped me. I would be in a wheelchair without it. In the US check Anat's site-www.anatbanielmethod.com/, in Canada check www.uptownstudio.ca ,also www.freechildrensclinic.org/ This therapy works with the person's brain. It is useful for any situation regardless of the disability. If I had been aware of this therapy when I was working with all those kids in special needs day care I'd have sent all the parents to get this treatment for their children. I am not aware of anything that is as good. 

Name: ok | Date: Aug 14th, 2009 7:33 PM
Have you done genetic testing? 

Name: well... | Date: Aug 14th, 2009 7:34 PM
Have you done genetic testing? 

Name: laura | Date: Oct 12th, 2009 2:07 AM
My Daughter was also diagnosied with global delay at age 4 years as well i ran most of test up to date with lots of therapy speech therapy and ot therapy she is still drooling due to poor musle tone in jaw and of course in spcial needs schooling she is doing fine.good luck. 

Name: cinda | Date: Oct 16th, 2009 8:58 PM
I have been raised with alot of special need children just as mircosypholy, austum.. my son has cerebral palsey, adhd, hearing impaired and high rish of epilepsy. my youngest has a heart defect, delayed...iready about your special little boy it sounds like autsum or cerebral pasley, some doctors dont want to tell you.. i have learne you have to be demanding 

Name: mommychick | Date: Nov 23rd, 2009 11:18 PM
Have you had him checked for Jouberts syndrome? the poor muscle tone, developmental delay and visual problems fit joubert's, good luck. 

Name: Crystal | Date: Oct 1st, 2010 8:59 PM

My son is 16 months old now and he sounds the exact same as your newphew expect for no visual or hearing problems. Does your nephew have seizures?? We still have no answers and have done countless tests. Does your nephew hold his head up?? So confusing!!! 

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