Brain Evaluation

Mitochondrial Dysfunction Identified in Autistic Children

Neurology Today (1-6-2011) cited study finding that children with typical autism are more likely to have impaired mitochondrial function; it remains unknown whether this is cause or effect.  What is known is that mitochondrial dysfunction can amplify and make brain function worse.  Further that the highest levels of abnormalities were found in the brain tissue with the highest energy demands.  Children in the study were 2 to 5 years of age with severe language and behavior deficits and compared to controls. One explanation is the presence of higher oxidative stress and/or inadequate removal of harmful toxins in the autism population.  Mitochondrial problems can create less capacity for cells to produce ATP, the energy needed for working cells; they are also sensitive to stress suggesting that the problem may worsen when taxed by environmental factors of infection and inflammation.

Early Identification of Autism Spectrum Disorders

Differences in feeding were found in infancy between children in whom Autism spectrum was later diagnosed.  Infants were described as slow feeders and having a later acceptance of solid food which was still present at 15 months. Those children with autism spectrum were significantly more difficult to feed and more selective in their food choices than the control group. After 15 months the diet for the autistic group had significantly less variability and was more restricted. By 24 months the diet restriction was so great that these children were likely to be eating different foods from the rest of the family. By 54 months the children had a special diet due to allergies.  Higher rates of pica (eating non-edible substances) was greater in the autism children between 8 and 54 months.  Children with Autism Spectrum consumed fewer salads, vegetables, fresh fruit, sweets and carbonated drinks than the controls.  There were no weight differences among the children.  This study was documented in the Psychiatric Times (November 2010).  This study illustrates the feeding problems typically documented by parents of children diagnosed with Autism Spectrum Disorder.

 

Testing For Autism

It appears that schools have finally agreed to the consensus that the autism spectrum is a group of neurodevelopmental disorders with a multitude of causative factors.  The brain is clearly involved in this disorder spectrum and considered the reason for the red flags of a lack of language development, formally seen at 12 months when the child is not babbling or gesturing, at 16 months when not using single words meaningfully, and at 24 months when not using two word spontaneous phrases accompanied by a problem socializing.  It is becoming accepted knowledge that the common denominator between the social and behavioral difficulties as well as language losses is the frontal, executive reasoning processes. 

Agreed upon general characteristics are the following:

·       Cognitive: Uneven development of cognitive skills,

·       Social skills: Difficulty understanding social rules, turn taking, sharing, being aware and correct perceiving and interpreting nonverbal facial expressions and emotions of others, ability to be empathetic and aware of the feelings of others

·       Communication: Difficulty responding to verbal information, multiple step commands and lack of expression of needs and wants, organization and self direction, difficulty screening out distractions, completing activities independently, initiating work activities, organizing free time, stopping one activity and moving on to the next, being flexible, and shifting attention

 

Does this not sound like executive reasoning deficits?

So, I have to question why the schools do not routinely refer out for neuropsychological evaluation to diagnose the autism spectrum given that this is not their area of expertise nor, generally speaking, have they received essential in it.

Why do the schools insist upon using self report measures and preschool language tests; measuring what is already obvious to diagnosis this disorder? A parent is not always made aware of the difference in diagnosis by a school professional versus a neuropsychologist, maintaining that their child has already been diagnosed. They do not understand that the “testing” received from the school, consisted of the completion of self-report measures that they filled out regarding the symptoms they observed in their child and that no testing was actually done.  Thus the diagnosis was based upon the opinion of the parents and their view of their child as well as what was observed in the classroom by the teacher or members of the study team. 

 Because the school insists that they are able to diagnose Autism spectrum, Asperger’s and a variety of disorders, the insurance companies will not pay for testing outside of the school system, insisting that the interpretation of the new school laws are such that they are responsible for any and all testing that a child needs.  Schools who are struggling financially have inadvertently created a problematic situation for everyone involved.  School psychologists who are not licensed psychologists insist upon instructing parents that they should not have “outside testing” done by a professional neuropsychologist, that it is not needed. Should the schools really  be responsible for all of this: For a neurodevelopmental disorder, from diagnosis to treatment?

Autism spectrum, might I remind the reader is a brain disorder not a behavior disorder. So why is it being diagnosed as a behavior disorder?  When the school  receives a neuropsychological evaluation instead of being grateful that someone in the community took the time to identify the child’s learning needs and to work synergistically with the school, they denounce the evaluation, discredit the professional, and/or ignore the report all together:  Such a waste when the schools already admit that autism spectrum is a brain disorder. As always the child and the parents suffer.

Oxytocin Hormone used to promote social behavior in Asperger’s Syndrome

Oxytocin is a hormone secreted by the pituitary gland at the base of the brain, found to promote mothering behaviors of caring, cuddling and protecting.  Recent research (Proc Natl Acad Sci USA 2010 Feb 16) found the increase in social behavior of high functioning autism spectrum children with the use of a nasal dose of oxytocin.  They found increased behaviors of staring at faces, caring that more balls were thrown their way, feeling trust and preference for specific individuals in various designed studies with the introduction of this hormone.    While the use of this hormone is not seen as a central role, it may provide a modifying factor for some of the problematic behaviors associated with this disorder.

What is happening to the care for the Autistic Population?

Parents go from one therapy to another looking for a small grain of hope. They justify the expense of thousands of dollars and time spent on the road when they see a small sign of change in their child’s development or cognitive progress.  They have become used to looking for small changes, no longer expecting the big picture to ever change.  Parents become immune to any professional expressions of hope, disbelievers that anyone can fix their child while looking for a quick fix to end the misery they and their entire family lives on a daily basis.  The perils of the younger child who hits, throws things and never seems to remain inactive becomes almost insurmountable as they grow older and the rages increase threat of harm to themselves or those who care for them.  The child has bruises and scars as well as the parents.  Other children growing up in the home lose their own childhood and/or are subjected to trauma on a daily basis.  Where does this end.  The search for causal factors goes on.  Parents seek medication that they hate in terms of side effects looking for a few minutes of relief while questioning the price they are paying. 

Professionals providing treatment need to be on a more united front to help these parents . The new research emerging out of the field of neurology is sometimes not incorporated in the general clinic setting as the belief continues that these children are afflicted with a psychiatry treated disease that benefits with the introduction of anti-psychotic medication.    The importance of sleep and research emerging from the field of sleep medicine pointing to the problem of sleep apnea, sleep disordered breathing and overactive sleep is also largely ignored in the clinical setting.  There is not a uniform policy to continually repeat EEG studies using 24 to 48 hour monitoring as well as yearly sleep studies to continually search for causal factors for this incredibly disabling disorder.  Are professionals still asking in depth questions about birth history, head injury, RSV, respiratory infections, high fevers, to name a few disorders that can affect the brain and behavior in a pervasive manner depending upon the age of occurrence?  This disorder needs to be viewed as seriously and as threatening to quality of life as Alzheimer’s is.  Perhaps then the insurance companies would pay for services to help these families that go into debt tying to pay for anything that promises to potentially help their child.  Recently a news article attested to the problems families have had in terms of having to give up their jobs, going into tremendous debt to pay for treatment for their Autistic child. 

Sound Processing Delays found in Autistic Children using MEG (magnetoencephalography)

This is another reminder of the neurological status of autistic children and that autism is a Neurodevelopmental disorder.  This recent study published in the January 2, 2009 Neurology Today documents one possible reason for the hallmark presence of language and communication impairment in this population.  Compared to children developing normally, the response time to process sounds of the autistic population was 20 to 50 percent longer measured on the MEG.  The MEG provides rich data about the brain, a mapping of activity in the brain in response to something such as a child processing sounds.  MEG measures white matter activity in the brain tracking magnetic fields produced by the electrical impulses created by the neurons as information is used and processed.  In this case, as the neurons process each sound, software measures the time it takes for each sound to reach peak processing in the brain. Why is this an issue? The example used in the Neurology Today article was the following:  There is a 20 ms delay in processing a simple tone such as “ah”. With the addition of more sounds and syllables there becomes a buildup of delays.  So the autistic child is on the “el” while the rest of the world is on “phant” for the word, elephant.  The researchers proceeded to separate those autistic children with language impairment using the MEG.  Suggestion was for clinicians to slow their speech way down when working with autistic children with is rather simplistic and probably already naturally in place. The MEG research is a reminder to do your homework with Autism, not to simply assume it is a genetic disorder that one has to live with. We need to work towards identifying these markers to identify causal indicators for this disorder in order for treatment to occur.  

 

Diagnosing Autism Early

You can actually diagnose Autism early.  One way is to use behavioral markers that appear around 18 months with the absence of eye contact and connection to the primary caregiver.  A lack of social games, a disconnection, absence of the typically seen social smile, arms held out to picked up and so on.  The earlier Autism is diagnosed the sooner that intervention can be started.  The sooner the intervention the better the outcome and prognosis for the future.

Early indicators are the limited interest in connection with others, limited interest in basic social interactions, lack of responsiveness to typical games of hide and seek, absence of a social smile, lack of imitation (verbal and non-verbal) and of course, lack of development of language and social communication in general. Recent statistics indicate that the disorder is present in one out of every 150 children by the time they turn eight years of age.

Help for Autism

There is help for Autism. I firmly believe that Autism can be treated. The first goal is accurate diagnosis. The answer to these questions:

What are the things continuing the behavior problems? Is it gastrointestinal pain? Is it food allergies? Is it an immune system problem? Is it a reaction to pain? Is it a reaction to the environment? Is it a learned trait to control the feeling of being continually overwhelmed by too much information in their environment at one time? Does the child feel overwhelmed by too much information due to problematic brain processes, processes affecting the executive reasoning areas of the brain? As a result they find comfort doing the same thing over and over, they find stimulation bouncing up and down, they enjoy looking at the same toy and they find the face way too much information, too frightening, too overwhelming. The more they do not look at faces the more people get mad at them, it is even easier to get stuck in looking at the object, it does not get mad.

What are the triggers for the brain processing problems? It could be sleep apnea. Children who sleep with their mouth open. Children who snore.  Children who do not get enough air flow at night affecting oxygen to the brain. It could be seizures. Children who move around all night long. Children who sleep walk. Children who sit up and scream.  Children who lash out.  Children who meet the criteria for manic depressive illness. Children who have lost moments of time, staring spells, looking dazed. Children who have subtle problems due to birth issues.

What can we do? We can diagnose the triggers. We can systematically get help. Start with a neuropsychological evaluation. Test the problem don't just track symptoms. Symptoms can be due to a million different things.

Is there help? Yes. Help for sleep apnea. Help for seizures.  Help to train the brain. Ways to teach children to learn language. Ways to teach social skills. Help at any time. Help at any age.

A Fresh Look at Autism

At the Autism Society of America conference in Orlando, Florida several weeks, Dr. Martha Herbert, pediatric neurologist and professor presented her findings along with her contemporaries, about what Autism truly is.  Recognizing the impact of several factors; neurological, medical, metabolic and genetic, she cited the need to examine the child using all of the above disciplines.  These professionals presented a theory of Autism that truly recognizes the numerous variables and interactive factors affecting these children.  The interactive effect of several causal variables and events is critical to understand the impact of this disorder and why it presents so differently in its symptoms. 

So consider the child who is born with some problems (long labor, need for oxygen, low apgar score) they have subtle problems, immune system problems which is in the gut so they are picky eaters, develop allergies and are in gastrointestinal pain (their stomach hurts all the time) which affects their behavior, they are frustrated and angry.  Eating the same foods just worsens the gastrointestinal problems and development of allergies. They react to the vaccines, they react to all kinds of things including things in their environment or world.  The brain is affected, partticularly the executive reasoning processes. They have selective attention, they select everything in the environment to attend to so they attend to too much information at one time. They are easily overwhelmed as a result. Too much information so they focus on the small things, over and over. The way the car moves, the garage door that opens and closes.  The continuation of the same movement relaxes them and they get stuck. This does not help them to look at the face of their caregiver, to interact emotionally or to see the way people form words enough to copy them to speak and learn language. The cycle continues they become more isolated, more fragile, more comfortable alone and they learn less.  They do not want to learn to go to the bathroom, to participate in the rules of society.  It is hard to teach them.

Now the trigger may be birth issues, it may be a genetic fragileness, it may be undiagnosed sleep apnea, it may be undiagnosed seizures. This is where evaluation is needed. Neuropsychologcal testing to see if they have problems learning due to problems in the brain that can be treated.  The autistic child can get help with neuropsychological testing, help with diet, help with immune system issues and protection from the environmental factors.  This is not a lost cause, this is an area that has just begun to see changes in diagnosis and in changes in treatment.

Parents Jump on the Issue of Vaccines But Do Not Examine that Failure to Learn Language is a Brain Problem

For some reason parents of diagnosed Autistic children do not consider that failure to develop language is a brain problem.  They do not consider that the goal of the search for causal factors needs to be related to the brain.  Instead the debate on the vaccine and use of Thimerosal continues to be a primary question despite recent findings that the removal of thimerosal from vaccines in California did not reduce Autism cases (Neurology Today 2-7-2008).  Diets are embraced, sensory integration therapies are begun prior to any type of neuropsychological evaluation to rule out a problem with the brain.  Recent studies continually point to the presence of EEG abnormalities as high as 26 to 65 percent and more recently, sleep abnormalities.  Sleep apnea is often a causal factor for Autism if present early enough.  An overwhelming number of children who have suffered a known TBI or stroke or tumor are still mistakely diagnosed as having Autism.  The question is why parents are not informed of the relationship of Autism to the brain especially when new statistics are quoting that one in 150 children have this disorder. The majority of the children in our school for frontal lobe disorders have been diagnosed with Autism.  These children are now reading and learning language.  They have all been diagnosed with a seizure disorder and they are all on anti-seizure medication.  They are all smarter than anyone gave them credit for.