Discussions By Condition: I cannot get a diagnosis.

Vague diagnosis for my son (PDD-NOS). Any suggestions?

Posted In: I cannot get a diagnosis. 29 Replies
  • Posted By: cjtucker
  • April 3, 2008
  • 05:46 PM

Hello everyone,

My now 4-1/2 yo son has had problems from birth. He's had a diagnosis of Pervasive Developmental Disorder-Not Otherwise Specified. He recently had his three-year evaluation for services at his school (early childhood developmental delay program), where they changed his qualification from autism to cognitive impairment. When I told his child neurologist (who gave the diagnosis a couple of years ago) about this, he responded, "It sort of does seem like cognitive impairment, doesn't it?"

Here is a list of many of his symptoms:
- didn't babble as baby
- colicky as baby
- spit up frequently as baby
- frequent earaches as baby
- apraxia (no speech, but understands language)
- unsure movement, rigidity, clumsiness
- fine motor impairment
- late crawling, late walking
- gross motor impairment
- sensory defensiveness (responds well to joint compressions, brushing, and deep pressure)
- irrational fear response to certain stimuli (group singing, cameras, hats, headphones, vacuum cleaner, animals, etc.) - this is getting better over the past few months, but he's still sensitive.
- apparent cognitive impairment (lack of conceptual understanding: colors, sorting, numbers, letters, commands, etc.)
- frequent night waking
- always hungry
- heavy
- gags/chokes on food frequently

He can also be very sweet. He's always made a lot of eye contact, and craves social interaction, almost excessively. His lack of spoken language seems to be an oral-motor problem. To me, he seems to have a thick tongue. He snores, too. I took him to an ear/nose/throat doctor, who said everything looked normal. He has no allergies. All of his blood work and genetic testing came back normal. He has a pretty normal attention span. He has normal features (aside from a gap between his front two teeth). He's starting to sleep a little bit better since we stopped giving him anything with wheat or dairy in it, and we're giving him 3mg of melatonin before bed.

A couple of years ago he had an MRI which showed "delayed myelination," but the neurologist has not ordered another MRI since.

We've come to accept his disability, but we would really like to get a better understanding of where these problems are coming from.

He has a younger brother who is typically abled.

Thanks in advance for any insights you can provide.

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29 Replies:

  • I forgot to mention that this seems to be congenital. He had feeding problems from birth. He could not latch on to nurse, and if he did get anything, he'd gag. There was never any regression because he never developed at a normal rate to begin with. He was born by C-section, as he was breach and the was low amniotic fluid.Also, his hearing and vision have been tested and are normal.
    cjtucker 8 Replies Flag this Response
  • Since his orginal diagnosis was thought to be autism, have you investigated the possibility that exposure to wireless technology in utero or shortly thereafter may have caused his condition? Metals are also involved. http://www.prnewsnow.com/PR%20News%20Releases/Lifestyle/Link%20Between%20Wireless%20Technology%20and%20Autism%20Unveiled%20in%20New%20Scientific%20ReportThanks for the link. He wasn't exposed to any unusually high amounts of wi-fi signals in-utero or after birth. My wife was at home while pregnant, and we had dial-up Internet and no cell phones at the time. In fact, cell signals are relatively weak where we live. She did have a few ultrasounds during the pregnancy, but she had just as many for our second child, who doesn't have any difficulties. It doesn't seem to fit the Thimerisol poisoning theory since he had problems at birth.
    cjtucker 8 Replies Flag this Response
  • One thing maybe inner ear disorders? I know he has been tested, but perhaps this deserves a closer look. My niece was having problems with talking, actually...way behind, but once she had her ears operated on she started catching up...and you did mention the ear problems early in his life...she had a LOT of ear infections....she had the operation at 2 years old....doing much better now...she just couldn't hear well...and of course you know that inner ear effects balance and such... One more thing, may be way out in left field, but did he has his thryoid checked? Usually this is check at birth for problem. A low thryoid can cause a lot of problems....maybe you can look up a bit more on this on the internet...the endocrine system is so complex, so a specialist for this, endocrinologist, may be best........be sure to look at thryoid problems in children and not adults when you search.....hope this helps...Joan
    Joan5555 316 Replies Flag this Response
  • I know you say his hearing is fine, but I would like to challenge that statement. I believe, given his disability, that unless he has had the dopler hearing screening, that the hearing reading is up for discussion. If he hasn't had it, get his doctor to order it (it seems like you have insurance???). The fact that he never babbled as a baby leads me to believe that this is a long standing hearing problem, or, as you stated, his muscles in his tongue are not working correctly, making it impossible for him to talk or eat correctly. So we are looking at muscles and hearing. What you also need to consider when he begins school is that he does qualify for ESY (extended school year) due to the fact that he would experience regression in his speech services due to the fact that the therapist should be working on muscles in the mouth..they may fight you on that from year to year, so be prepared to state that he does qualify. I am also wondering if he should have physical therapy. I would ask for a PT evaluation. The school may not pay for it, so get your insurance to do an evaluation and see if he may need it to support his education. I am thinking they need to do therapy for his muscles. The OT will cover some of the stuff, but I think he also may qualify for PT, which will kill the school but in the end, they will pay for weekly services.....maybe--if he qualifies--you need to show why it supports his educational process. What causes this??? A million different things. Seems like he was born with an impairment, so I doubt if it was autism afterall. He came out having problems nursing, which leads me to think his muscles aren't working. I think the team decided he was not autistic, too, and the doctor agreed. It is, afterall, a medical decision whether or not he is autistic, and the team should go with the medical diagnosis...but, you have the doctor coming in agreeing with the team now. Providing services is the key and not necessarily the classification. One thing I think you need to do is to learn sign language so you can give this boy a way to communicate. I think you should mention it to his teachers so they can begin to introduce words to him. You may need to have another team meeting and put that in his IEP--but get the dopler hearing test first because you may find he really has a hearing disorder, too. Along with the sign language, you should have communication boards at home and in the classroom. They should be referring to the boards when they ask him questions if he is non-verbal. He also needs to be cued at home to make his needs met with your home communication board. There are fancy ones that talk and say words and then there are home made ones that you can make up yourself. http://trainland.tripod.com/pecs.htmGood luck and let us know about the special hearing test. From a Special Education Teacher/Director
    Monsterlove 2,921 Replies Flag this Response
  • I have to say that is a great post Monsterlove! Nice to see a post that makes sense in the "real" world......Joan
    Joan5555 316 Replies Flag this Response
  • I would see a geneticist. I think you're right-- it is a congenital problem. A geneticist might be able to help you get a handle on all the symptoms.
    aquila 1,263 Replies Flag this Response
  • I believe, given his disability, that unless he has had the dopler hearing screening, that the hearing reading is up for discussion. That's a good point. (Yes, we have insurance.) We will look into having his hearing tested again, specifically the doppler hearing test. Joan, he did have a lot of ear infections as an infant. It did rupture once, and fluid oozed out of his ear. We had a follow-up appointment with the pediatrician, who said his ear healed up fine.What you also need to consider when he begins school is that he does qualify for ESY (extended school year).Funny, I've never even heard of extended school year services. He's currently in an ECDD program for pre-school aged children three hours per day, four days per week. Does he only qualify for ESY once he's in kindergarten? He's going to be enrolled in a different school next year because I pushed for him to go to the all-day CI K-2 classroom instead of holding him back in the ECDD class one more year. When I do ask about ESY, might they argue that that's why they have summer play-to-learn groups? Or should that be separate?I am also wondering if he should have physical therapy.He used to get some PT, but the PT thought he was fine with just a PT consult. I didn't necessarily like that they pulled PT, but he does have movement class (with a climbing wall) as well as OT. Providing services is the key and not necessarily the classification. I agree that getting services is more important than classification, but sometimes I worry that we're treating the symptoms when we could be treating the cause. Obviously, then, if we knew the cause, we could try to figure out how to go right to the source. One thing I think you need to do is to learn sign language so you can give this boy a way to communicate. Along with the sign language, you should have communication boards at home and in the classroom.Actually, I should have mentioned that. We do use some sign language with him and he has several signs he can use. His SLP also just created matching communication books for home and school. He has difficulty pointing to exactly what he wants. He seems to just point to things because he likes them or recognizes them. I'm trying to give him exactly what he points to so he starts to learn that this is how he can get what he wants. Good luck and let us know about the special hearing test. From a Special Education Teacher/DirectorThank you for all your thoughts, everyone! I will be sure to keep you posted on what we learn.-Chris
    cjtucker 8 Replies Flag this Response
  • I forgot to mention... testing has been historically very difficult, if not impossible, because he's so sensitive and over-reactive, especially if it involves any sort of gear or tools that have to go on his body. He just screams and cries in terror, and it's very difficult to bring him down from it. He never had an EEG because of this. Does the doppler hearing test require responses from him or does it somehow check his hearing automatically? Even if he was able to remain calm, he wouldn't understand instructions on how to respond to sounds.
    cjtucker 8 Replies Flag this Response
  • That's a good point. (Yes, we have insurance.) We will look into having his hearing tested again, specifically the doppler hearing test. Joan, he did have a lot of ear infections as an infant. It did rupture once, and fluid oozed out of his ear. We had a follow-up appointment with the pediatrician, who said his ear healed up fine. Funny, I've never even heard of extended school year services. He's currently in an ECDD program for pre-school aged children three hours per day, four days per week. Does he only qualify for ESY once he's in kindergarten? He's going to be enrolled in a different school next year because I pushed for him to go to the all-day CI K-2 classroom instead of holding him back in the ECDD class one more year. When I do ask about ESY, might they argue that that's why they have summer play-to-learn groups? Or should that be separate? He used to get some PT, but the PT thought he was fine with just a PT consult. I didn't necessarily like that they pulled PT, but he does have movement class (with a climbing wall) as well as OT. I agree that getting services is more important than classification, but sometimes I worry that we're treating the symptoms when we could be treating the cause. Obviously, then, if we knew the cause, we could try to figure out how to go right to the source. Actually, I should have mentioned that. We do use some sign language with him and he has several signs he can use. His SLP also just created matching communication books for home and school. He has difficulty pointing to exactly what he wants. He seems to just point to things because he likes them or recognizes them. I'm trying to give him exactly what he points to so he starts to learn that this is how he can get what he wants. Thank you for all your thoughts, everyone! I will be sure to keep you posted on what we learn.-Chris He doesn't have to do anything for the hearing exam but they will put a device in his ear. They use it on babies and non-verbal kids. He really needs it.ESY--yes, I believe just when he begins Kindergarten--that is when it will start. It is not summer school, but a continuation of the speech services and probably PT/OT services. It will be necessary to maintain his level of physical functioning so he won't regress during the summer (between K and 1st grade) in the area of speech (tongue movements probably).PT consult is kind of a cop out. They are saying he still qualifies for services but aren't really going to do anything but say hi to his teacher. Get him the services back. Raise a fuss. You don't want to loose it. You can wait until after the hearing exam. Please keep us informed as to how it goes...or if it even goes. Hope the little guy cooperates. Maybe you can bribe him somehow into it.Get the sign language into the IEP, too.
    Monsterlove 2,921 Replies Flag this Response
  • I would have your son checked to make sure he is not tongue-tied - literally. I had twins who were never diagnosed as being tongue-tied until they were almost 5 years old - and a teacher figured it out. They had also had trouble nursing and we had moved when they were young and they had had a series of 3 pediatricians but none had recognized this situation. They were so tongue-tied they had to have double frenectomies (sp?) (each of their tongues had to be cut twice under the tongue). That might help with the speech, but sounds like the hearing might be another. Co-incidentally, one of my twins has pretty severe auditory processing disorder, so that might be part of what you're dealing with. I encourage you to stick with it until you figure it all out - and don't just take doctors' words for it. I won't go into it, but we have had huge problems with my son (who is a wonderful person and now 19) and we can't figure out if something is newly wrong or was always wrong and we didn't realize it or what. And no doctor has been able to diagnose him though we've been to MANY including Mayo clinic. Don't let your son get more than one immunization at once so his immune system won't be overwhelmed. Is he fair-skinned by any chance? My son is so fair-skinned and I think people like him have more sensitive systems. Also check into gluten-free, dairy-free diets - SO much easier to control/change when they're young!!!!Best of luck to you
    Anonymous 42,789 Replies Flag this Response
  • I would have your son checked to make sure he is not tongue-tied - literally. I had twins who were never diagnosed as being tongue-tied until they were almost 5 years old - and a teacher figured it out. They had also had trouble nursing and we had moved when they were young and they had had a series of 3 pediatricians but none had recognized this situation. They were so tongue-tied they had to have double frenectomies (sp?) (each of their tongues had to be cut twice under the tongue). That might help with the speech, but sounds like the hearing might be another. Co-incidentally, one of my twins has pretty severe auditory processing disorder, so that might be part of what you're dealing with. I encourage you to stick with it until you figure it all out - and don't just take doctors' words for it. I won't go into it, but we have had huge problems with my son (who is a wonderful person and now 19) and we can't figure out if something is newly wrong or was always wrong and we didn't realize it or what. And no doctor has been able to diagnose him though we've been to MANY including Mayo clinic. Don't let your son get more than one immunization at once so his immune system won't be overwhelmed. Is he fair-skinned by any chance? My son is so fair-skinned and I think people like him have more sensitive systems. Also check into gluten-free, dairy-free diets - SO much easier to control/change when they're young!!!!Best of luck to youThanks for the info. I did take him to an ear, nose and throat doctor. It seems like he should have seen something like that, but I guess I shouldn't assume that. What kind of doctor should I take him to in order to find out?Yes, he's very fair skinned, like my wife and me. That's a good point. He may be more sensitive to things. We do have him on a gluten-free , dairy-free diet. I can't really tell if it's helping or not. He seems to be sleeping a *little* bit better, but we've been trying so many things over the last few months, who knows what's helping.Thanks,Chris
    cjtucker 8 Replies Flag this Response
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  • If you feel you have seen specialists and not been given a straight answer, I suggest you keep looking until you find someone who seems interested in your quest. Having a child with a disability is not easy and sometimes you must knock on several doors before you find someone willing to help. If you know in your heart something doesn't sound or feel right, keep searching. We have had the best luck by only seeing pediatric specialists vs. providers who see both kids and adults. Also, if there is a children's hospital in your area start at the developmental clinic within that hospital. Schools can provide some assistance, but even with PT, OT, and Speech therapy, there is only so much you can get from the schools. We have found that we wasted a lot of valuable time with the limited services school could provide. Our son showed much greater gains from a more intensive medical model of intervention. The earlier you start, the better chance you will have to keep him from falling further behind. Also, find other parents of children with special needs. They can be a great source of comfort and possibly referrals.
    kspenny 1 Replies Flag this Response
  • Segawa's dystonia or dopa responsive dystonia... there's not a lot out there on it it can be misdiagnosed as cerebral palsy or parkinsons usually some key symptoms are an unusual gait and symptoms that are less noticeable in the morning and progress as the day goes on
    qwertyuiop123 453 Replies Flag this Response
  • He has no allergies Do not believe just because he had allopathic testing done that he doesn't have allergies. A lot of his symptoms may have allergies as a direct cause...he could have been allergic to substances in his mother's milk, causing the initial problems. Western allergy testing is very inaccurate! Chronic ear infections and phlegm issues are nearly always allergy related. They are also nearly always fungal in nature...google candida overload for symptoms. Did he take repeated doses of antibiotics at an early age? If so, how many and what kind of antibiotic? This is VERY important if you could please post it would be helpful. What does he eat on a daily basis? What does he drink daily? What are his favorite foods? What is his digestion like? It is great you have him on gluten and dairy free foods. I would suspect soy/corn allergies. Of he was on repeated doses of antibiotics I would really suspect candida overload. Please research this as most docs dismiss this as a problem and it can affect EVERY aspect of your being. Best wishesDOM
    acuann 3,080 Replies Flag this Response
  • I feel like I just read a description of my own son, who is 5. I just took him to a Ped. neuro and he said "Mild PDD". I am so confused on what to do about Kindergarten next year. My one suggestion though is "Vision Therapy". I have just started it with my son, and I am already seeing changes. Especially on looking at others in the eyes when talking to them. I also just visited my regular Peditrican and she is ordering a MRI for us. I know what you are going through. It's like there is something different but we just don't know exactly what it is.Hang in there.Krisi ColeAthens, TX
    Anonymous 42,789 Replies Flag this Response
  • Hi. I was impressed with the quality and quanity of responses. I am a developmental specialist with about 20 years experience. The best book, that covers all kinds of oral motor issues, from sucking and eating, swallowing, to talking, is: "THE LATE TALKER", by Agin, Geng and Nicholl. If you find it in a book store, just stand there and read pg. s 28-31. When I saw in your post and you noted: "he had an MRI which showed "delayed myelination," but the neurologist has not ordered another MRI since" ,........ I wanted to incourage you to consider this more.. We may never know which gene error causes this, but remember that myelination goes on for years. We use to think that by age 10, the brain was pretty much set, and now we know that even into the 20's, the brain is still developing. We know that there can be errors in how the body breaks down or converts the omega 3 fatty acids, (DHA & EPA). The LPC's or long chain polyunsaturated fatty acids are key in making myelin. Myelin increases the speed and efficiency of the transmission of signals. Late developing myelin may be the root cause of many developmental delays in infants and children like swallowing, speaking, crawking, walking, stacking and talking. Learning requires sustained attention and the omega 3 fatty acids help with that too. Good luck. Here are two other books just about the omega 3 fatty acids that i highly recommend. "THE LCP SOLUTION" by Stordy and "The A.D.D. Nutrition Solution, by Zimmerman, and lastly, Dr. Andrew Stoll has one about the role of Omega 3 fatty acids through out the body and especially in mental health. All books are good to read. "The Late Talker" is a MUST READ. book. I will be thinking about you and your journey. ((also a late talker....))Thanks in advance for any insights you can provide.
    Anonymous 42,789 Replies Flag this Response
  • I have a suggestion.. I think someone else mention the genetic doctor? Yep.. I would definatly do that! I have 2 children with an organic acidemia. I am lucky and they are fairly healthy. But these symptoms that you are listing seem soooo much like a metabolic disorder, from possibly and organic acidemia or possibly a fatty oxidation disorder?. I know that every baby gets a newborn screening but some states don't require the "extended" newborn screening, which is where you will find most of these disorders! Or the extended screening may not have been required at the time of your sons birth. My son who is 5 years old wasn't diagnosed with his disorder until he was 2.. that is when my daughter was born and diagnosed. The extended screening here in TN wasn't a requirement for the hospitals until the year AFTER my son was born so he went undiagnosed until she was born and diagnosed! He does have some delays himself but is generally healthy. My daughter on the other hand is doing great as she has been treated since birth. With most of the organic acidemia disorders you will find that protien is the culprit of causing delays. It is not an Allergy and would not show as such. These kids cannot breakdown luceine that is contained in the protiens and it causes an acidic build up in their bodys, causing motor delays, physcial delays, feeding difficulties ect. With Fatty oxidation, these kids cannot breakdown the glucose that is supposed to be stored in their body for energy once the fat they have eaten is gone. This causes much of the same symptoms as the first set of disorders I spoke about. Please look at these and see if you find similarities.. www.fodsupport.org for the fatty oxidations and www.oaanews.org for the organic acidemias.
    djnlinnie 1 Replies Flag this Response
  • Prader-Willi syndrome comes to mind: http://www.news-medical.net/?id=35982
    aquila 1,263 Replies Flag this Response
  • I think you need to start with testing to see if he is balanced in nutrients and check organ function with blood work. You can get a good guess on his digestion by checking his bowel and urination, frequently.Do a food intolerance elimination diet. You have to do this very strictly or it wont work. Determine if any foods are an issue, as you are doing with wheat and dairy. He may be glucose intolerant or have problems with soy. I have major problems with soy; it makes me manic and now I get hives as well.Next I would do a full panel blood work and take this to a good Naturopath, one that is recommended as having good diagnostic skills.Naturopaths read labs differently than AMA doctors.Also be very sure to test for heavy metals as well as mineral excesses and deficiencies. Mineral problems and metal toxicity can cause emotional and cognitive issues. An inability to absorb calcium will cause the body to not eliminate toxins. Make sure you check that he is not deficient in vitamin D...even if you live in Florida or some other sunny climate this can be an issue.If he is deficient in D he is not getting the calcium either.I hope this helps.
    earth holder 1 Replies
    • August 20, 2008
    • 06:04 PM
    • 0
    Flag this Response
  • I wish I had a suggestion for you, but in fact I feel I'm in the same situation. I would love to hear what you have found out. My son in young, only 16 months old, but he displays all of the factors that you have listed for your son. And he has also always been this way. He was born 6 weeks early, c-section, breech, amniotic fluid break at 32 weeks. So right off the bat we figured his feeding issues were from all that. He still does not gesture at all, except waving bye-bye. He does not speak other than dada. He didn't start babbling until 13 months and even that he doesn't do too frequently. He does not point or reach for things. He just started walking (he still crawls more than walks). His gross motor has all been delayed somewhat, but it has progressed. His speech and even non-verbal communication just doesn't seem to have ever developed. He in fact meets a lot of the early criteria for PDD. What struck me about your post is that you say he is happy and smiles a lot. From the autistic children (younger aged) I have known and from all I can find, there never seems to be a lot of smiling. My son smiles all the time. He is not scared of strangers and smiles at all of them. He always seems very happy, which somehow makes everybody figure he is fine. I know its early still for him at this age, but I just really have a feeling something is off. My background is in education and I have worked with kids with 7 years, I know all develop differently, just sometimes as a mom you know. You know?I hope you are finding all the resources available in your area, I would love an update. I am also in Michigan.Jeanna
    Anonymous 42,789 Replies
    • December 2, 2008
    • 05:41 PM
    • 0
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