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JANUARY 2017

QUESTION 1

QUESTION:
We have a six-year-old son who has just been diagnosed with Fragile X. He has also been examined by a psychologist and was found to be suffering from delayed development, including e.g. linguistic and motor problems. Since we found out we have been trying to find information on our own. We saw that there were studies of a type of medication that prevents the release of harmful glutamate in the brain.
I wonder whether this medication could be used on our six-year-old and if so, how one might be able to obtain it? The sooner this kind of medication is administered, the milder the symptoms and the consequences of the diagnosis will be, right? Are there any risks involved in using this medication?
The glutamate that is released in the brain, does it have any connection to the glutamate found in various foods? If so, is this something one must consider when deciding what food to serve the child?

ANSWER:
Treatment studies dealing with Fragile X syndrome have been aimed at restoring the imbalance between glutamate and GABA that occurs when the FMR1 gene has been switched off and there is a deficiency of a certain protein. The desired effect of the medication has been to achieve a reduced glutamate level in the brain. However, these placebo-controlled clinical trials have as yet not produced sufficient results for these substances to be recommended clinically. Continued studies are ongoing.
Regarding the question of glutamate in food, yes, it is virtually the same glutamate as the one found in many different foods. Glutamic acid occurs naturally as one of the proteins in our typical diet. The homepage for the National Food Agency, Sweden, reports that Glutamate, E620-625, occurs naturally in almost all vegetables, as well as in wheat and soy https://www.livsmedelsverket.se/en/

ELISABETH FERNELL


QUESTION 2

QUESTION:
We have a girl who is almost 10. She is a test-tube baby, born with a heart condition (truncus arteriosus, type 2). She was fully corrected at the age of 2.5 months and today she feels fine, heart-wise. There was an obstruction in her left lung that required a stent but nothing apart from that. At 5.5 years old she was diagnosed with autism spectrum disorder after I pointed out that something had been different about her since the age of 1 (very active, intense, hard to get to sleep, easily awoken, picky about her food, and a real pain to get her dressed). In the second grade (2014) she was started on medication for epileptic seizures after we had noticed her getting absence seizures following a stent procedure in January that same year. These absence seizures grew increasingly frequent, and one could also detect a certain lethargy in one half of her body (I unfortunately cannot remember on which side).

The tests indicate that her autism spectrum related difficulties are mostly linguistic; both understanding concepts, complete patterns (“the big picture”), and trouble finding the right words for things. Also, abstract things go completely over her head. She also has a short working memory and difficulties transferring things from her short term memory to her long term memory. Does not have the energy to focus for long periods of time, for demanding tasks, she can only manage spans of about 10-20 minutes.

Extremely oversensitive skin, sensitive to smells and noise/lots of sound. The combination of smell and sound can cause her to become nauseous.

She is currently on medication for her epilepsy, Apydan (oxcarbazepine, aka Trileptal) 2x 600 mg and Orfiril (valproate, aka Depakote), 2x3 tablets (cannot remember the dosage of the tablets). Not completely symptom free but her absence seizures are no longer visible, she merely feels and perceives them in her head as something “strange”.

The child neurologist has recommended visual aids, tailored education and enlisting a personal assistant. Now, as of the fourth grade, she has been given her own personal assistant. She previously shared one with others since the second grade, which resulted in her crashing and being home for 2.5 months.

After only four weeks of the autumn semester she has already begun to refuse going to school. She does not want to go, but cannot quite identify what the problem is.

During a meeting with her teacher and special education teacher yesterday we discussed technical aids and things that might conserve the use of her working memory in some areas for more effective/useful application in other areas. I think that she should be able to use a calculator for multiplication and be allowed to work more with the computer when writing, because her writing is very poor, only capital letters and lots of spelling errors (a bit dyslexic if you ask me, but not according to the school…). Also, she needs to work in shorter intervals with more time for recovery. The school thinks that she is capable of doing multiplication without using a calculator and cannot see any gain in implementing that idea, as for the computer, the answer was yes, maybe, but even then, only writing software is on the table, no educational games or any of the other myriad options enabled by today’s technology. We could not seem to reach an understanding at all on these points…

Should our daughter be allowed to use technical aids to a greater extent? What will ultimately be more beneficial for her? Drudgingly memorising tables and trying to learn them mechanically? I do not think this is reasonable, but the school personnel do. I would rather see that time and energy spent on using strategies and aids that may prove useful for her in her future everyday life. It should also be mentioned that we have to deal with a virtual monster every night who yells, roars and screams, and I think this is because the demands and the load imposed on her by school are simply too much for her to handle.

With your knowledge and your research results – what do you think?

From a desperate mother who cannot decide whether to change schools, stuff my daughter with antidepressants, force her to attend a school where her mental health suffers, or simply go into hibernation.

ANSWER:
Based on your description, your daughter has a great need for tailored support at school. Swedish school legislation dictates that the school has a responsibility/duty to tailor education according to individual needs. Autism involves an abnormal cognitive development, which in turn necessitates a different didactic style. This must form the basis of the pedagogic strategies used. From the test results you describe, I find her support needs to be quite in line with what one would typically find in cases of autism, even though these also vary depending on potential other problems, e.g. ADHD, general learning disability etc. It is thus essential to plan one’s supportive efforts according to the individual’s cognitive abilities.

Technical aids are often helpful to individuals with autism and other cognitive disabilities. However, it is always important to have a clear purpose for the task itself and define what the aid is intended to facilitate. It is of course important to adjust according to the individual’s specific skills and needs, such as in this case being able to use a pen and paper if no other options are available. If the purpose is to solve a problem, like e.g. a math problem, one must however bear in mind that the use of pen and paper might end up being an impediment to actually solving the problem. One might compare this to solving a math problem in another language, in which case it turns into two difficulties in one. When it comes to mathematics like in this case, naturally it is important to understand the process, but if your daughter is impeded in solving the problem because of the tool she is using (pen and paper), it will likely only be stressful for her, whereas a calculator would instead help in such a case. It also seems that your daughter has major perceptual problems, as he reacts strongly to different sensory inputs. This means that one must also look over her environment, so that she can have a sense of peace and quiet when working on her assignments. Her reaction after school is finished serves as an important warning signal that the demands of school may be too great for her, but also indicates that one must consider what her evening routine is like.

In conclusion, your daughter likely has a different way of learning, which means that she also needs to have strategies tailored for her accordingly. Using visual aids like e.g. pictures/images is usually positive; these can be found in e.g. various computer programmes or, like in this case, calculators as well. It is also important to be aware of the purpose of different tasks, using the right individually tailored tools, the right difficulty level, and not working for too long at a time. School is about learning for life and this is an important concept to bear in mind in terms of different so-called aids as well. Furthermore, one must also plan the entire day around separate blocks of work, rest and relaxation. I hope that together you will be able to determine what is best for your daughter specifically, that will make it easier for her to learn and to get on well at school.

GUNILLA WESTMAN ANDERSSON


QUESTION 3

QUESTION
My son is 6 years old and is in preschool, he has always been an easy child to handle. He has been eating selectively for a while but he has also been following the standard progression curves for height and weight. He has always had an incredible nose, so he is sensitive to different smells. When he was around 4 or 5 years old, his intermittent tics (blinking) started manifesting. When he was 5 he started noticing himself that he was stuttering (“choppy”, as he called it). Through a nutritionist we found out that his mouth is overly sensory, he vomits easily. He has a rough time with bed-wetting, something which comes and goes for him. Towards the end of his time at daycare, before starting school, he started having major problems with separation anxiety, which led to school personnel restraining him. These days he doesn’t have to be restrained, but his separation anxiety/sense of worry is still present in many situations. He finds it hard to not be with his best friend… There are usually some rituals like different “greeting pats” but he somehow feels that this might be annoying and tries to not take it too hard when the other person doesn’t want to. He likes to play with our (adult) neighbour. Likes watching the same movie over and over. One week it’s all about skateboarding and the next week it’s nothing but basketball. He likes sports, plays hockey, but it’s hard when he can’t be with his best friend. If things repeatedly don’t go his way, like if he falls, he gets sad and doesn’t want to participate anymore. He takes words quite literally, if someone says that one has to bring one’s homework, he really must NOT forget this. He couldn’t handle swimming school, broke down and asked for forgiveness because he couldn’t manage it. Easily offended, sensitive. Has a hard time making mistakes.

I could think of lots of things, a lot of this is typical stuff for a 6-year-old BUT, how common is it for children at this age to have so many “problems” that are common without them being something else?

The school can’t see any problem at all… They just see a well-liked boy who is playing just as he should. When he was examined at the child care centre, they concluded that he maintains eye contact, plays as he should, but is gloomy and subdued. He doesn’t show any major emotions one way or the other. His vocabulary is a bit weak but he is good at remembering images/pictures.

Both of his parents are diagnosed with ADHD, his big brother has general language disability… We were recommended to have him be examined for NPD (neuropsychiatric disorders) but the school said no. We are not getting any help and every day for us involves a lot of planning ahead and motivation in order for things to run smoothly. He is managing SO FAR, but we are worried that he will have to collapse completely before the school decides to do anything.

Are we completely wrong about this? Could you tell us if it might be something else?

ANSWER:
Thank you for your e-mail about your 6-year-old son. I think the recommendation to perform an NPD examination was the right call. To get one done, you can get in touch with CAP (Child and Adolescent Psychiatric services). No need for a referral. You can either write a so-called “self-referral” or simply contact CAP over the phone.
What you are describing can be summarised using the term ESSENCE (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations), which among other things refers to small children sometimes having various unspecific symptoms that are initially difficult to label. The symptoms should, however, be taken very seriously; parents and children should not be left to fend for themselves, and the child should be followed up over time. This is because eventually the child might end up meeting criteria for one or more neuropsychiatric or neurological diagnoses. Read more on our website: http://gnc.gu.se/english/research/essence--early-symptomatic-syndromes-eliciting-neurodevelopmental-clinical-examinations-

ELISABET WENTZ


QUESTION 4

QUESTION:
I am more and more frequently getting questions/claims about how different vaccines are a cause of children getting/developing ASD at an early age right after they get their vaccinations.
Is there any truth to this?
Many serious researchers and investigations of course claim that vaccines in themselves do not constitute the fundamental cause of ASD, and often when I try to refer people to this fact, they argue that “big pharma” is trying to cover up that vaccines are dangerous.
Can you help me with some good facts and objective, factual arguments on this?
I meet mothers who feel very guilty because they have agreed to have their children be given various vaccines and at some point thereafter seen their children develop problems and become diagnosed with ASD, and so now they do not want to let the other siblings get vaccinations etc…
What kind of advice can you give me that I can then pass on to parents who ask me these questions?

ANSWER:
Thank you for your question. Firstly it should be said that vaccinations against diseases are one of medicine’s greatest contributions to public health. There are some potential contraindications of different vaccines (e.g. weakened immune system) and there are certain known risks. When deciding on vaccination, the risks of the vaccination itself must be weighed against the risks associated with the disease one is being vaccinated for. When measured this way, it quickly becomes apparent that the risk of vaccination is generally much smaller.
The question of whether there is any link between vaccination against the measles, mumps (parotitis), rubella (MPR) and autism became a topic of discussion after an article was published by A Wakefield and associates in the medical journal Lancet in 1998. However, the article was eventually retracted by the journal as it turned out that the conclusion regarding the link between the vaccine and autism was not scientifically founded.
A general connection between MPR vaccination and autism has never been confirmed in any study. In a comprehensive review of several studies, published in the American journal JAMA Pediatrics in 2016, the conclusion is that one has not been able to prove any link between autism and vaccination against the measles. Comprehensive reviews have also been made by the the large American vaccine safety group, Vaccine Safety Datalink Project. The group concludes that a causal link has not been found between MPR vaccination and autism. However, the group notes that it cannot be ruled out that vaccination may possibly, for a very small group of children, contribute to the development of autism and that this must be studied further. Such studies are currently ongoing.

References:
Smith M. Vaccine safety: medical contraindications, myths, and risk communication. Pediatr Rev. 2015;36(6):227-38.

Bester JC. Measles and Measles Vaccination: A Review. JAMA Pediatr. 2016;170(12):1209-1215.

Institute of Medicine (US) Immunization Safety Review Committee; Stratton K, Gable A, Shetty P, McCormick M editors. Immunization Safety Review: Measles-Mumps-Rubella Vaccine and Autism. Washington (DC): National Academies Press (US); 2001.

ELISABETH FERNELL & CHRISTOPHER GILLBERG


QUESTION 5

(i) QUESTION:
Are there well-researched good methods of helping these children so that they survive mentally throughout their childhood and adolescence?

ANSWER:
Medication can be effective in cases of ADHD. Most of the research data we have is on so-called central stimulants, e.g. Concerta and Ritalin (metylphenidate). The school should make adjustments to their pedagogic efforts so as to create a very clear structure. For both ADHD and Asperger’s syndrome, more support may be required, e.g. in the form of an extra resource (assistant, special teacher etc.) or indi Qvidual tutoring during certain classes.

(ii) QUESTION:
Are there manuals based on this? If so, where can they be found?

ANSWER:
The so-called TEACCH approach is one commonly used method. Implementing ideas from this approach might be helpful, for example by making clear schedules for the child.

(iii) QUESTION:
Have any studies explored what is counterproductive in terms of interacting with and organising for the child?

ANSWER:
An unstructured environment without predictability. Events that deviate from the daily routine, e.g. school field trips.

(iv) QUESTION:
Is there any objective research on what medications are helpful or harmful for children with ADHD if they ALSO have Asperger’s syndrome?

ANSWER:
Sometimes the child can seem more autistic when central stimulant treatment is first introduced. Some children react in the opposite manner and become less autistic. One cannot with any certainty say beforehand how any given individual child will react. Either way, once they go off the medication, the symptoms disappear.

(v) QUESTION:
Is there any research showing which changes in medication are needed once the child approaches or enters puberty?

ANSWER:
It is impossible to predict how any given individual child will behave once he/she enters puberty. In some adolescents who have been very hyperactive and impulsive throughout childhood, many of these symptoms disappear in their teenage years, but the sense of restlessness may in these cases still remain internally. Phasing out the use of medication is something that can be considered for certain adolescents whose issues have begun subsiding during their teenage years.

ELISABETH WENTZ


We will reply to more of your questions next month!

Regards from the GNC researchers.

 

Page Manager: Anna Spyrou|Last update: 3/16/2017
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