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possible aspergers

My son is 13 and has neurofibromatosis type1. He has significant food aversions and is currently being seen by an OT for this. His neurologist and OT suspect he has aspergers but his dr does not recommend testing unless he needs EC services in school.
He is very rigid and regimented. He is awkward socially and will incessantly talk about video games and World war 2. He has a vast knowledge of these subjects. I have to tell him not to talk about these subjects to other unless they express an interest. He also is very sensitive to certain sounds and textures. He sometimes flaps his hands.
His food aversions are a real challenge. This has gotten worse over the years. There are only about 5 things he will eat. He eats no meat and only potatoes as a vegetable. He will eat pizza but it has to be from pizza hut. He will eat mashed potatoes if they are from KFC and only if he can put the gravy on . It is very frustrating. The OT is working with him but it really is not going very well. The OT told me this may not work esp. in light of the aspergers.
As his mother, I feel terrible and know some think I just give into him etc. But he will go hungry and refuse to eat other things. He has tried to eat steak or chicken and will put it into his mouth but cannot swallow it. He does take a multivitamin.
I am undecided about having him tested. I would like to know for sure but am told confirmation will not necessarily change anything.
He was tested for EC services when he was in 1st grade. His IQ was normal. He did receive EC services while in public school . I pulled him out after 5th grade and he is now homeschooled. Being in public school was a nightmare for him and me.
What is your recommendation as far as testing is concerned? Can you tell me about food aversions and what can be done?
His OT has described him as being in a very narrow box with very limited interests,food likes etc. She said the "box" needs to be made bigger.
Thank you so much. I am desperate to help him.
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340668 tn?1274739796
MEDICAL PROFESSIONAL
I also found this press release on an interesting development in treating tumors for NF Type 1 on MedlinePlus (an excellent resource on medical issues):

http://www.nlm.nih.gov/medlineplus/neurofibromatosis.html#cat1

Under press releases.

National Institute of Neurological
Disorders and Stroke (NINDS)


--------------------------------------------------------------------------------

Embargoed for Release
Thursday, October 30, 2008
12:00 p.m. EDT

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Daniel Stimson
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Researchers Identify Mechanism and Possible ************** for Growth of Nerve Tumors in Neurofibromatosis

Researchers studying neurofibromatosis type 1 — a rare disease in which tumors grow within nerves — have found that the tumors are triggered by crosstalk between cells in the nerves and cells in the blood. The researchers, who were funded by the National Institutes of Health (NIH) and the Department of Defense (DOD), also found that a drug on the market for treating certain kinds of blood cancer curbs tumor growth in a mouse model of neurofibromatosis type 1. A clinical trial of the drug is underway in people with the disease.

The results of the study on mice are published in the October 31, 2008 issue of Cell.

The study's senior investigators were Luis F. Parada, Ph.D., a neuroscientist at the University of Texas Southwestern Medical Center in Dallas, and D. Wade Clapp, M.D., a hematologist at the Indiana University School of Medicine in Indianapolis. Their research was supported by NIH's National Institute of Neurological Disorders and Stroke (NINDS), NIH's National Cancer Institute (NCI), and the Neurofibromatosis Research Program of the U.S. Army Medical Research and Material Command.

"By taking a team approach and combining their unique areas of expertise, Drs. Parada and Clapp were able to shed light on a complicated disease mechanism and to develop a potential treatment," says Jane Fountain, Ph.D., a program director with NINDS.

Neurofibromatosis type 1 is a genetic disease that affects about 1 in 3500 Americans. The nerve-associated tumors, or neurofibromas, that occur in the disease tend to grow just under the skin or at the nerve root. The latter type of tumor, called a plexiform neurofibroma, can cause disabling symptoms by compressing the nerve, the spinal cord, bones, muscles and internal organs.

The tumor forming cells within a neurofibroma may become malignant and spread to other parts of the body. There is currently no treatment to prevent neurofibroma growth.

In 1990, NIH-funded investigators discovered that neurofibromatosis type 1 is caused by loss-of-function mutations in a tumor suppressor gene, now known as NF1. People with the disease have the genetic makeup NF1+/-, meaning they have one functional copy of the gene and one non-functional or mutant copy.

Still, for many years the trigger for neurofibroma growth has been a mystery. Schwann cells, which form a protective sheath around nerve fibers, were a prime suspect. However, neurofibromas also contain nerve fibers themselves, connective tissue and mast cells, the latter of which circulate in the blood and contribute to inflammation.

Combined with previous findings, the new study suggests that the formation of plexiform neurofibromas requires two steps: complete loss of NF1 in Schwann cells (rendering them NF1 -/-) and an interaction between NF1 -/- Schwann cells and NF1+/- mast cells. While Schwann cells appear to be the primary tumor causing cell, mast cells appear to stimulate tumor growth by recruiting other cell types and blood vessels to the tumor.

"The mast cell inflammatory response appears to be co-opted by the tumor to enhance tumor growth," says Dr. Parada.

The researchers uncovered the role of mast cells in tumor growth through a series of technically challenging experiments. Previously, Dr. Parada had shown that mice with a targeted deletion of the NF1 gene in their Schwann cells and an NF1+/- genetic background develop plexiform neurofibromas, while mice with the same targeted deletion and an NF1+/+ genetic background do not develop the tumors. Drs. Parada and Clapp now show that in these non-tumorigenic mice, it is possible to induce plexiform neurofibromas by transplantation of NF1+/- bone marrow (which contains mast cells and other blood cells).

The researchers also examined the role of c-kit, a molecule that is expressed by mast cells and other cell types, and is known to become overactive in some kinds of cancer. When c-kit was genetically deleted in NF1+/- bone marrow cells prior to transplantation, the transplanted cells failed to induce neurofibromas. Meanwhile, in mice that were prone to develop neurofibromas, the cancer drug Gleevec — an inhibitor of c-kit — reduced the metabolic activity and size of the tumors.

Because Gleevec is already prescribed for chronic myelogenous leukemia and other cancers, the researchers were able to secure fast regulatory approval for a phase 2 clinical trial of the drug in children and adults with neurofibromatosis type 1.

In their report, the researchers also discuss the compassionate use of Gleevec in one young neurofibromatosis patient with an airway-compressing plexiform neurofibroma. This patient was not considered an ideal candidate for surgery given the location of the tumor and its vascular nature. A three month administration of the drug was effective in significantly shrinking the tumor without any observed side effects.

"The results in this one patient are encouraging, but future research is critical to determine any long-term benefits and risks in the majority of patients," Dr. Fountain says.

The researchers say that the complex origin of tumors in neurofibromatosis — which has thwarted therapeutic development until now — could be the chink in the disease's armor. In patients with leukemia, Gleevec directly targets the cancer-causing cells, which can become genetically resistant to the drug over time and render it ineffective.

"In patients with neurofibromatosis type 1, we are using the drug to target a non-tumorigenic cell, so we believe we are less likely to see drug resistance," Dr. Clapp says.

NINDS (www.ninds.nih.gov) is the nation’s primary supporter of biomedical research on the brain and nervous system. For more information about neurofibromatosis, see http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm.

The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.
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Reference:
Yang F-C et al. "NF1 Tumor Suppressor Haploinsufficient Bone Marrow Complements Nullizygous Schwann Cells to Form Plexiform Neurofibromas." Cell, October 31, 2008, Vol. 135, pp. 437–448.

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Helpful - 0
340668 tn?1274739796
MEDICAL PROFESSIONAL
Neurofibromatosis is a genetic disorder in which tumors grow along the nerves.  There have been reports of individuals with this condition also being diagnosed with autism spectrum disorders.  Somewhere in the neighborhood of 50% of children with this condition also have developmental/learning problems.  If you are particularly interested in determining whether your son also has an autism spectrum disorder than a qualified profressional who can administer a test such as the ADOS (Autism Diagnostic Observation Schedule) can provide this service for you.  In some cases having this diagnosis may make more resources available to you.  Some of the behaviors you describe (persistent interests in trains/WWII, hand flapping, social awkwardness) also occur frequently in persons with autism.  The feeding issue you mention sounds like the problem you are most immediately concerned about.  A diagnosis of an ASD will not change the nature of how you should approach this feeding problem.  Food selectivity is common in people with autism/developmental disabilities and typically developing persons.  The primary function of eating is weight gain and growth.  If you son is gaining weight and growing as he should (that is, he is around the same growth percentile on his weight/growth curves now as he was when he was younger - your pediatrician should be able to help you assess this) then the problem may be challenging but not a severe issue.  If he is not gaining weight and growing as he should then the first thing you should be considered about is getting him to eat more.  Variability in food intake is certainly desirable but is often a difficult challenge.  There are several books and book chapters that have sound suggestions about things to try.  I'll paste some of these in below.  Additionally, there are feeding services associated with most pediatric hospitals that can likely provide an interdisicplinary assessment of his eating.  You state that an OT is working with your son on his feeding and not making progress.  Making progress on eating requires someone with expertise in feeding and many disciplines treat feeding problems.  When motor skills or posture interfere with eating and OT can be invaluable.  It might be the case that your son needs behavioral programming to make progress.  It is possible that a feeding specialist with behavior analytic training could be of assistance.  One suggestion I have is to search for BCBAs (Board Certified Behavior Analysts) near you by going on to http://www.bacb.com/ and searching the certificant registry under "Consumer Information."  You should be able to locate the nearest BCBA and ask them if they have experience with feeding problems and if they do not whether they know anyone in the area who does.  Most selective eaters can make progress but progress may be very slow, especially since your son has been a selective eater for so long.  I suggest picking up a book on feeding problems and do the things I mention above. The first book I list is very comprehensive and the second is a book chapter I wrote that covers feeding problems in kids with autism. Best of luck!


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Treating Eating Problems of Children with Autism Spectrum Disorders and Developmental Disabilities
(12234) ISBN: 9781416402480

Our Price: $49.00
Interventions for Professionals and Parents

A child’s incessant screaming, spitting, and food throwing during mealtime are enough to frustrate any parent or caregiver! Continuous resistance to eating not only leads to malnourishment, but physical and intellectual developmental become additional concerns. Invariably, the underlying reason(s) for refusing to eat will differ from child to child, so the focus should be on improving or resolving the eating problem.

This is a two-part book written for caregivers and professionals who work with children with feeding problems. It presents behavioral interventions and approaches on solving a child’s resistance to eating.

Part One was specifically written for teachers, parents, and caregivers with no prior professional experience or training on feeding problems.
Part Two was written for professionals, providing detailed information on how to apply behavioral assessment and developing individualized interventions based on a child’s eating behaviors.
The behavioral interventions and procedures presented in this book can also be integrated into oral motor or dysphagia therapy. Includes references and brief descriptions.

Note: This book is not designed to treat sensitive eating disorders, such as anorexia nervosa or bulimia nervosa.  Please consult professional assistance.

204 pages • ©2007 • ISBN 978-1-4164-0248-0 • 8.5 x 11 • softcover  

                                                                                                                                        

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making a difference: Behavioral Intervention for autism
(9208) ISBN: 9780890798713

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When Behavioral Intervention for Young Children with autism appeared in 1996, it quickly became an international bestseller in its field. Drawing from solid research and specific experiences, the researchers, parents, and practitioners who contributed to that book explained the principles of behavior analysis and applications to autism intervention, the critical distinctions between science and pseudo-science, and proven strategies for maximizing learning.

Now PRO-ED introduces a follow-up volume, making a difference: Behavioral Intervention for autism.

For this new book, the editors once more sought out practitioners, researchers, and parents who could provide readers with the kind of information they need to make informed decisions about the children and adults in their care. Included in the work are powerful statements from parents Pamela Dawson and Lora Perry, who describe the challenges they faced in obtaining effective treatment for their children and how they navigated those challenges. also included are chapters written by professionals who have dedicated their careers to finding creative and caring means of helping people with autism and their families. Dr. William ahearn discusses the management of feeding problems. Dr. Bridget Taylor and her colleague Suzanne Jasper lay out some techniques for improving social skills. Dr. Richard Foxx talks about the treatment of problem behaviors - what to do if an individual's progress is slow, or practitioners run into roadblocks. Edward Fenske and his co-authors, Drs. Krantz and McClannahan, discuss the critical role of incidental teaching procedures in promoting spontaneous language. Dr. Gregory MacDuff and his co-authors provide an overview of research on prompting and prompt-fading, and provide guidelines for using prompts to develop new, independent skills. Margery F. Rappaport, a speech-language pathologist, shares her experiences in maximizing conversational skills. Dr. Deborah Fein and her colleagues review what is currently known about the nature of autism. Dr. Catherine Maurice examines the political turmoil surrounding autism and the myriad treatments that are currently promoted for this disorder.

making a difference, like its predecessor, combines solid, data-based information with practical problem-solving strategies. It will be a valuable resource for family members and professionals alike who strive to maximize the achievements of individuals with autism.

221 pages • 2001 • paperback
Helpful - 0
470168 tn?1237471245
I am a parent of a child (age 7-8) who has high functioning autism.  I am not a professional.  Your son does have some typical characteristics of Aspergers.
And he is having such difficulties with social interaction I can understand why you are homeschooling him.  However, social interaction is part of the Speech and Language Therapists responsibility.  She should be putting together a programme to improve his social skills because unfortunately he will not be able to remove himself from the world and he will need to interact with other people.
Please don't think i'm being judgemental, because I am not.  But when you are no longer around the professionals who will have contact with him will need to know exactly what his disorder is, otherwise they may think he is being awkward, or spoilt or rude, when infact it is Aspergers.  
My son also finds social interaction difficult.  He simply does not know what to do or say.  They have to be taught specific rote learnt phrases to help them initiate conversation, and they have to be taught to time themselves and stop talking after a number of minutes to let the other person speak.  They also have to be taught to listen to what the other person says!  And this is just one thing that we think is so simple, just having a chat with someone.  He has to learn everything.
My son is in a mainstream school, but it also has experience and expertise in autism.  He goes to dinner time clubs and is supported in his play by it being structured eg. he chooses what activitiy to do at play time and he choose who he will do it with and a Teaching Assistant keeps an eye on proceedings.  
I am going to an Educational Tribunal at the end of January 2009 to get the provision in school that my son needs.  I have had private reports from an Occupational Therapist, Speech and Language Therapist and Educational Psychologist.  Some of the things I have asked for have already been agreed.  My son will get a greater level of support that any other child in that school.  Unfortunately everything is down to budgets.  The more 'needs' your child has the more it costs the educational system.  However there are educational laws that state that your son's 'needs' must be met.
If I were homeschooling my son I would still want input from a Speech and Language Therapist about how to improve his social skills.
Regarding Sensory stuff.  I found a book by Olga Bogdashina called Sensory and Perceptual Differences in Autism and Aspergers very useful.  She has a daughter with aspergers and a son with autism.  This book helped me reduce my sons sensory behaviour because it showed me 'what' he was experiencing.  There is a questionnaire at the back of the book that you can complete to get a sensory profile.  This questionnaire is reputable as the autism outreach department in my city uses it.  You may find that there are other senses also affected and that is causing additional stress on his sense of smell and taste/texture.  If those other senses are helped, then it may lesson the oversensitivity on the other senses.  Google Irlen Syndrome as alot of those on the autistic spectrum can have this visual perceptual problem.  My son wears the glasses for sensitivity to sunlight and depth perception.  It has helped reduce his auditory sensitivity.
Would your son consider tasting things on the promise that he doesn't have to swallow them?
Do you think it is the taste or the texture of the food that is the problem.
Does your son also have oversensitive smell?
If he is refusing food because it is a rigid way of thinking then you need to teach him the idea of 'change' or 'surprise'.  An Educational Psychologist/SALT should be able to show you how to do this.  This helps them realise that 'change' is not always bad.  They stick rigidly to things because their sensory world changes constantly and they cannot predict outcomes.  If noise hurts your ears one day, but not the next you will automatically begin to avoid noise 'incase' it hurts you.  And that way of thinking may apply to all his sensory systems.  It took my son a while to accept that 'chicken nuggets' are the same as 'chicken chunks' are the same as 'pieces of fried chicken with breadcrumbs'.  Prior to that he would tantrum if a word changed.  Now he is better - not perfect - but alot better with change.
Regarding getting a diagnosis.  Is it going to be beneficial to your son or in getting the supports and provisions he needs?  If it will help then it might be worth getting it.
Regarding narrow interests.  That is how they are.  However you can teach them many things through their interests.  There is no point trying to make them interested insomething they aren't interested in.  They just won't have any attention or focus for it.  It might be an idea to try and extend his interests to make the box bigger.  For example if he likes trains you might get him interested in the cities that the trains visit, and then move it to cities around the world etc etc.
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