No single cause for ASD?

Francesca Happé, Angelica Ronald and Robert Plomin at the Institute of Psychiatry, Kings College London, believe that it is time to give up on the search for a single cause of Autism Spectrum Disorder, that many genes could be responsible for separate traits on the autism spectrum. Read their paper here

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Autism Spectrum Disorder and Fragile X link?

Neurorocker at en.wikipedia

 

When I started to really dig into the genes behind Aspergers and Autism, it seemed that it isn’t as clear cut as I initially thought. After researching the brain science of Fragile X syndrome (and the FMR1 gene) to establish how it could cause Autism and Aspergers, I discovered that that there isn’t just one gene that causes ASD. It seems there may be a range of genes, all of which seem to have similar effects on the developing brain.

In this post I shall discuss the FMR1 gene that causes Fragile X syndrome and its link to Autism.  Fragile X Syndrome is so called because a small section of the genetic code is “repeated on a fragile area of the X chromosome” (source PubMed Health)

According to the National Fragile X Foundation:

“FXS is the most common known cause of autism or “autistic-like” behaviors [sic]”

“Fragile X syndrome can cause a child to have autism or an Autism Spectrum Disorder (ASD) though not all children with fragile X syndrome have autism or an ASD.

  • FACT: For between 2% and 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation.
  • FACT: Approximately one-third of all children diagnosed with fragile X syndrome also have some degree of autism.
  • FACT: Fragile X syndrome is the most common known single gene cause of autism.”

The A.D.A.M. Medical Encyclopedia notes that the symptoms of Fragile X are very similar to those with Autism:

  • “Delay in crawling, walking, or twisting
  • Hand clapping or hand biting
  • Hyperactive or impulsive behavior
  • Mental retardation
  • Speech and language delay
  • Tendency to avoid eye contact”

The reason Fragile X caught my eye is that one of the most common symptoms or signs of Fragile X is the hypersensitivity to sensory stimuli, as outlined by an article in Science Daily:

“New research provides insight into why fragile X syndrome, the most common known cause of autism and mental retardation, is associated with an extreme hypersensitivity to sounds, touch, smells, and visual stimuli that causes sensory overload and results in social withdrawal, hyperarousal, and anxiety. The study, published by Cell Press in the February 11 issue of the journal Neuron, uncovers a previously unknown developmental delay in a critical brain circuit that processes sensory information in a mouse model of fragile X syndrome.”

This is consistent with my view that the majority of symptoms associated with Autism and Aspergers are caused by sensory overload. In response to this article the Shared Attention website notes that: “This seems to support so-called experimental therapies (e.g. sensory integration) that theorize that plasticity in sensory processing can afford lasting positive changes in neurological function and behavioral outcomes. In other words, by using natural interests of the child to harness their attention and engagement, it may be possible to use purposefully engineered activities to modify and naturalize those pathways”.

And it seems that treatment for a child with Fragile X is similar to those with Autism and Aspergers. Source: Medicine.net:

  • Know the learning style of the individual.
  • Develop a consistent daily schedule or routine.
  • Use visual signs (pictures, sign language, logos, words) and concrete examples or materials to present ideas, concepts, steps, etc.
  • Prepare the individual for any changes in routine by explaining them ahead of time, possibly using visual signs.
  • Include functional goals with academic goals; for instance, teaching the individual the names of different pieces of clothing as well as how to dress him/herself.
  • Provide opportunities for the child to be active and move around.
  • Use computers and interactive educational software.
  • Provide a quiet place where the child can retreat and regroup.

So how does the Fragile X gene lead to symptoms similar to Autism?

This from the A.D.A.M. Medical Encyclopedia.

“Normally, the FMR1 gene makes a protein needed for your brain to grow properly. A defect in this gene makes your body produce too little of the protein, or none at all.” The link between the FMR1 gene and the hypersensitivity displayed in Aspergers and Autism has been established (see academic paper)  . The nerve cells in the brain initially grow extra branches, which could explain the hypersensitivity to various sensory stimuli. This could lead to the premature turning off of the “critical period” as discovered by Merzenich. The nerve cells eventually “prune” the branches so that the nerve cells appear normal, but at this stage it could already be too late, as the brain is left with the “undifferentiated brain maps” discovered by Merzenich.

According to the A.D.A.M. Medical Encyclopedia:

“Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. You can have Fragile X syndrome even if your parents do not have it.

Fragile X syndrome can be a cause of autism or related disorders, although not all children with fragile X syndrome have these conditions.”

The symptoms are more likely to be pronounced in boys, girls may only exhibit behaviours such as shyness.

But the FMR1 gene cannot be the only cause of ASD. The main issue with this as an umbrella answer to ASD is that males with Fragile X cannot pass it onto their sons, due to the fact that they only transmit the Y chromosome, and not the X. (source: Autism Help)  But it seems that many boys with Aspergers and Autism have a father who also has it. In addition the IQ of a person with Fragile X Syndrome is highly likely to be below average, although this is not always true for girls. Although the research in this area may be slightly inaccurate, as medicine.net points out:

“Attention disorders, hyperactivity, anxiety, and language processing problems can interfere with test-taking skills and learning. Because many people with Fragile X have these problems, a person with Fragile X may have more capabilities than his or her IQ score suggests”

So the search for the common cause continues…

Academic Papers on Fragile X:

http://www.fragilex.org/pdf/kaufmann-et-al_autismandfragileX.pdf

http://www.ncbi.nlm.nih.gov/pubmed/19441123

Sue Larkey’s tips

Today I signed up to Sue Larkey’s website and received these great tips in my inbox:

10 Essential tips for Understanding Autism Spectrum Disorder

1.      ASD students don’t have to look at you all the time.
o        Reason: They find looking and listening at the same time
hard to do.

2.      Give them time to answer any of your questions.
o            Reason: They have slower processing time. Sometimes it
can take them up to a minute to formulate the answer in the correct
sequence.

3.      If they feel pressured they will answer with stock standard
answers.
o      Reason: They know it will get them out of trouble quickly.
This may include: “I don’t know”, “yes”, “maybe” and often this
isn’t their true answer!!

4.      They often don’t “generalise” information between people
and places.
o          Reason: Homework for teacher ‘x’ is in the yellow basket
but for teacher ‘y’ it’s to be placed in the green basket.

5.      They find organisation of their school equipment very
difficult.
o          Reason: They are best with one folder with everything
inside. Limit the number of pencils, pens etc.

6.      Limit their choices and be very specific with choices.
o          Reason: They find choices overwhelming and are often
concerned with making wrong choice due to their difficulty with
problem solving.

7.      Be as clear, concise and concrete as possible.
o      Reason: People with ASD have difficulty with abstract
thinking.

8.      Avoid verbal overload.
o          Reason: They are visual learners and verbal information
takes them longer to process and retain.

9.      Avoid verbal arguments by redirecting them to what they
should be doing. Eg “Start your work”.
o      Reason: They often enjoy verbal arguments.

10.  Asperger people need positive feedback to know they are on the
right track.
o      Reason: Because of their fear of failure and they want to
be Mr Perfect.

Brain Science of Aspergers and Autism Pt. 1: Sensory Overload

Shiny Brain by Artem Chernyshevych http://www.sxc.hu/photo/1254880

In this first post on the brain science of Aspergers I want to talk about the theory of neuroscientist Michael Merzenich. Merzenich is one of the world’s leading experts on brain plasticity, and his studies into the causes of Autism and his work on the Fast ForWord software program has revolutionised the lives of many young autistics.

Merzenich discovered that early in a child’s life when the brain is making its early connections, what neuroscientists call the “critical period”, a nerve growth factor (a protein called BDNF or Brain Derived Neurotropic Factor, which is responsible for growing nerve fibres in the brain) is released. Read more of this post

Brain Science of Aspergers and Autism: Introduction

A friend recently asked me what happens in the brain of someone with Aspergers or Autism. There are many studies that have been undertaken by neuroscientists to discover the causes and brain functions that characterise Aspergers.

It has been discovered that it affects not just one area of the brain, but there are various areas that contribute to the features and cognitive functions of Aspergers and Autism. Read more of this post

Temple Grandin on Aspergers

“If the world was left to you socialites, nothing would get done and we would still be in caves talking to each other.”

Temple Grandin 2002

Asperger on Academic Success

“It seems that for success in science or art, a dash of Autism is essential. For  success, the necessary ingredient may be an ability to turn away from the everyday world, from the simply practical, an ability to re-think a subject with orginality so as to create in new untrodden ways, with all abilities canalised into one speciality.”

Hans Asperger 1979

All roads lead to Asperger’s Syndrome: A Personal Reflection from a father

When a Father realises his Son has Asperger’s Syndrome, he soon discovers that the source of the condition is much closer than expected. In this blog entry, all roads lead to Asperger’s Syndrome, as Father and Son embark on the same journey together.

All roads lead to Asperger’s Syndrome

Picture Cards

One way to assist a child who has auditory processing difficulties is with visual aids such as picture cards. This is a great way to explain rules or a procedure, write a list, and even make a schedule that your child can refer to. Many children with Aspergers learn visually, and visual aids may help them remember instructions or plans.

You can make your own picture cards or boards, using photos or clip art. Website Do 2 Learn has a very good selection of pictures that you can use, under categories such as home & school, safety, activities, emotions etc. You can download the line drawings for free and your child can colour them in themselves, or you can purchase the colour versions. The images are available as small pictures, a few per page, to print and use on a picture board or reminder strips or as large pictures, one per page, with or without text. They even have a “Make your own Schedule” program.

Below is a Road Safety Picture Board that I created for my son, using pictures from Do2Learn. I created a table in MS Word, copied and pasted the pictures in – one per table cell, resized them to fit, and then added my own text.

 

 

Do 2 Learn  gives tips for making your own picture cards, and also gives some advice for making your own photo cards “When taking photographs to use for communication, it is helpful to make the photograph as simple as possible. Include only one object in the picture or make the background blank. Some individuals have difficulty generalizing, so it may also be helpful to avoid including details such as the title of the book or video, or the labels on a food or drink item”.

 

Strategies for helping with Auditory Processing Disorder

Reposted from http://kidshealth.org/parent/medical/ears/central_auditory.html#

“Strategies applied at home and school can ease some of the problem behaviors associated with APD. Because it’s common for kids with CAPD to have difficulty following directions, for example, these tactics might help:

  • Since most kids with APD have difficulty hearing amid noise, it’s very important to reduce the background noise at home and at school.
  • Have your child look at you when you’re speaking.
  • Use simple, expressive sentences.
  • Speak at a slightly slower rate and at a mildly increased volume.
  • Ask your child to repeat the directions back to you and to keep repeating them aloud (to you or to himself or herself) until the directions are completed.
  • For directions that are to be completed at a later time, writing notes, wearing a watch, and maintaining a household routine also help. General organization and scheduling also can be beneficial.

It’s especially important to teach your child to notice noisy environments, for example, and move to quieter places when listening is necessary.

Other strategies that might help:

  • Provide your child with a quiet study place (not the kitchen table).
  • Maintain a peaceful, organized lifestyle.
  • Encourage good eating and sleeping habits.
  • Assign regular and realistic chores, including keeping a neat room and desk.
  • Build your child’s self-esteem.

Be sure to keep in regular contact with school officials about your child’s progress. Kids with APD aren’t typically put in special education programs. Instead, teachers can make it easier by:

  • altering seating plans so the child can sit in the front of the room or with his or her back to the window
  • providing additional aids for study, like an assignment pad or a tape recorder

One of the most important things that both parents and teachers can do is to acknowledge that CAPD is real. Symptoms and behaviors are not within the child’s control. What is within the child’s control is recognizing the problems associated with APD and applying the strategies recommended both at home and school.

A positive, realistic attitude and healthy self-esteem in a child with APD can work wonders. And kids with APD can go on to be just as successful as other classmates. Although some children do grow up to be adults with APD, by using coping strategies as well as techniques learned in speech therapy, they can be very successful adults.”