Autism & Fragile X- New Treatment

Two new research projects concerning Autism Spectrum Disorder and Fragile X Syndrome are briefly reviewed. In the first, a random controlled study of children with Autism Spectrum showed that the Early Start Denver Model showed statistically improvement over a control grouop in regard to intellectual development and adaptive behavior. In the second study ,preliminary research showed that a new medication improved behavior associated with Fragile X Syndrome compared to the contorl group. There is also some belief that such mediciation would be effective with children with Autism Spectrum. In conclusion there is a a link to a 4 minute video where a 12 year old boy with Asperger’s Syndrome interviews his mother.


In the past few months two very interesting research studies have emerged  from the literature concerning the treatment of individuals  on the autism spectrum or with Fragile X Syndrome. One involves early intervention and the other involves a medication which can be used at any age. I also suggest that you look at the unrelated but heart warming short video concerning a conversation between a 12 year old boy with autism and his mother at the conclusion of the blog.

Early Intervention for Autism Spectrum

The first  study was by Dr. Geraldine Dawson at the University of North Carolina and Dr. Sally Rogers at UC Davis. The study was supported by an NIMH grant and published in  Pediatrics. It was a randomized controlled study of 48 children between 18 months and 30 months of age who had been diagnosed with autism spectrum disorder (ASD) or pervasive developmental disorder (PDD). These children were randomly assigned to either a treatment program known as the Early Start Denver Model (ESDM), which was developed by the authors of the study, or were put in a group which received the usual community care. After two years,  children who underwent ESDM intervention showed greater improvement in intellectual development and adaptive behavior compared with the children who received the usual care.

The children in the ESDM group underwent an average of 15 hours a week intensive interventions with a trained therapist for two years . The parents of children in the ESDM group also received  16 hours a week  of guided interactive activities taught by the ESDM staff. Children in the usual care group received an average of nine hours a week of individual therapy and nine hours of group interventions such as pre-school education.

After two years the two groups of children did not differ significantly in the Autism Diagnostic Observation Schedule severity score and repetitive-behavior scores. However, the children’s scores on the Mullens Scores of Early Learning increased by 17.6 points in the ESDM group and 7.0 points in the usual care group, which was statistically significant. In addition the ESDM group also showed significantly higher Vineland Adaptive Behavior Scale scores which measured social, communication, motor and daily living skills based on parent’s reports.

This research would appear to indicate that while the diagnosis of the children was not changed, their ability to learn as well as  social communication and motor skills could be improved with this early intervention program. This reaffirms the importance of early diagnosis and treatment with dedicated treatment programs.

Possible Drug Treatment for Fragile X Syndrome and Autism Spectrum

Information about the second piece of research comes from an article I read in the New York Times two weeks ago about an experimental drug which achieved substantial improvement in the behavior associated with retardation in adults with Fragile X Syndrome. Normally, I would not give much credence to an unpublished piece of research discussed in a newspaper article. However, I was impressed by a statement of Dr. Thomas R. Insel, Director of the NIMH when he learned of these results. He said, “Just three years ago I would have said that mental retardation is a disability needing rehab not a disorder needing medication. Any possible results from clinical trials ( of this drug)  will be amazingly helpful.”

The preliminary research trial of this new medication were began by the Novartis Pharmaceutical Company in Europe in 2008 and the data analysis was completed this year. The action of the drug is based on its effect on brain synapses and the ability of medication to change genetic instructions needed to produce proteins that encourage and regulate brain signaling. The research measured a range of aberrant behavior such as  hyperactive repetitive motions, social withdrawal and inappropriate speech in the patients that were studied. They gave one set of patients the drug and another a placebo and after a few weeks switched treatment with both doctors and patients unaware of which pill was give to each patient. It was reported that the drug showed clear improvement in behavior. The Times article quoted Dr. Geraldine Dawson, the lead researcher in the other study sited above concerning early intervention who is also chief science officer at Autism Speaks, the world’s largest autism advocacy organization. She said, “The exciting thing about these results is that it is our hope that these same medications have similar positive benefits for people with autism who don’t have fragile X syndrome.” Dr. Luca Santarelli head of neuroscience at Roche Pharmaceutical confirmed that Roche is in the midst of testing a similar medication at four sites in the U.S. and  appears encouraged with the results thus far. Experts such as Dr. Santarelli believe that such compounds may prove most effective in young children whose brains are far more likely to respond rapidly when barriers to learning are removed, in this case by medication.

The Human Side of Autism- Mother –Child Interview

StoryCorps is an oral history program where people share life stories. In 2006 a 12 year old boy who has Asperger’s Syndrome (which is part of the autism spectrum) interviewed his mother Sarah as part of the StoryCorps program. This interview was put on line with recently added animation. This is a one-of-a kind four minute conversation which covered everything from cockroaches to Sarah’s feeling about Joshua as a son. This heart warming conversation is well worth watching.

Your comments on the above research and this conversation are welcome below:

Mental Health & The Developmentally Disabled

Tierra del Sol is a non profit organization serving people who are developmentally disabled. It has a small campus in Sunland, California where each day 250 adults are bussed in to participate is an individually designed curriculum. The programs include farm work, computer learning, art classes and kitchen training. People with developmental disabilities have a high prevalence of mental health problems, which can be difficult to diagnose. Mental health services for this group are more time consuming and therefore more expensive. As we are reevaluation our health care system in the U.S., this is the time to be sure that adequate mental health care for this is group is included in our health care program.

Tierra del Sol art

computer_lab_01aAre the Mental Health Needs of the Developmentally Disabled Being Met?

Tierra del Sol – Model Center for People with Developmental Disabilities

I recently met Steve Miller, the Executive Director of Tierra del Sol a non profit organization that works with developmentally disabled adults in order to train and help them function better in the workplace and in life. I accepted his offer to visit their beautiful campus in Sunland, California just outside of Los Angeles.

The atmosphere seemed to me to be a mixture of a small tranquil estate and a community college. I learned that one of the  beautiful buildings was once a training school for Catholic nuns that had its origin in the 1900s. In the last 15 years it has evolved into a productive training program where people with significant disabilities pursue a range of interests and training which will expand their options for participating in their local communities.

Personalized Curriculumequestrian_01a

Each day about 250 of adults with moderate to severe disabilities are bussed to the campus. Each of them has their own specifically designed curriculum. I walked through a barnyard area with farm animals where some of the people will tend the animals, learning skills, which can be useful in the still vibrant farm industry in California.

Upon entering the school building, I saw a series of comfortable class rooms humming with busy interested students although this was obviously not your typical college population. There was a computer class with older but functioning computers recently donated, which connected to the Internet. There was a knowledgeable instructor called “coach” and the activities ranged from doing the simple task  of connecting words with pictures to a very bright but dyslexic women who was trying to learn to write poetry. The art class which included ceramic making was an eye opener as among the busy diligent students using various media were some who were producing some outstanding drawings and paintings. The coach told me that most prefer to copy various pictures or images rather than draw from live models although they clearly bring in their own interpretations. There was one pencil drawing of an American Indian that I thought showed sensitivity and great depth of felling.  I learned that Tierra del Sol maintains a renowned gallery in the community called First Street which has earned some of these artists tens of thousands of dollars in commissions.food_service_01a-2

We detoured to the kitchen which reassembled a commercial set up of a moderate size restaurant. The students under the supervision of the coach were learning the workings of the kitchen at the same time that they were preparing meals to be used at the center. Many of them would be learning relatively simple tasks but along with their diligent work ethic, this would allow them to do work and make contributions to the community.

Students Provide Volunteer Service to the Community

As I chatted with Mr. Miller and his staff I learned that nearly everyone currently served on the  campus is engaged in community service – or “service learning” as colleges and universities refer to it. They will assist others to distribute food and clothing for impoverished seniors and children; care for abandoned pets, maintain community parks and assist understaffed hospitals, daycare centers, museum, libraries etc.

Many of the students move from volunteer service to wage paying employment at more than 35 private employers throughout the San Fernando Valley.  Additionally their newest program, NEXUS, is currently serving more than 50 young adults by supporting their enrollment in community colleges and other mainstream post-secondary education venues. In total they serve about 500 hundred people split about 50/50 between campus based preparatory programs and actual mainstream community life endeavors.

What are the Mental Health Issues?

I was particularly interested in how the mental health needs of this population were being addressed. I was not surprised to find out that it was not easy to arrange mental health and psychiatric care for those who needed it.

People with developmental disabilities have a high prevalence of mental health problems often at 30% in many studies and can be as high as 60-67% if aggressive and disruptive challenging behavior is included.

When we consider the autism spectrum disorder, the current thinking conceptualizes it as brain dysfunction with many underlying etiologies. Mental retardation is present in 65% -85% of this group. The onset of mental illness as a secondary disorder  is also a relative frequently. It is also known that persons with mental retardation, autism and other pervasive developmental disorders may exhibit co-morbid anxiety disorders, such as generalized anxiety disorder, obsessive-compulsive disorder, phobia and other anxiety symptoms at much higher rates than in the general population

Persons with developmental disabilities are more likely than the average person to have experienced abuse in their childhood which is known to contribute and complicate psychiatric disorders. There are often co-morbid medical problems which can lead to psychiatric symptoms. Furthermore medication taken for epilepsy as well as other medical conditions can cause psychiatric symptoms and complications.

Problems in Diagnosing Psychiatric Conditions in Persons

with Developmental Disabilities

Due to the nature of many developmental disabilities, there are inherent difficulties in diagnosing psychiatric disorders in this group. There are many reasons for this problem. Cognitive and communication difficulties can lead to unique modes of coping which can be mistaken for a psychiatric disorder. For example a person with such a condition might “self sooth” by talking to themselves which could easily be mistaken for a psychosis.

A person with a limited ability to communicate would not be able to provide information which would allow a mental health professional to easily make a diagnosis of a psychiatric disorder such as depression. Information such as changes in weight, sleep, feelings of sadness or even suicidal thoughts is necessary information for diagnosis and treatment. However a person with developmental disability might not be able to communicate these things. Similarly such information is required for follow-up in order to change medication or therapeutic techniques i.e. behavioral therapies could not be readily provided.

In order to make a psychiatric diagnosis in this population, develop a proper treatment plan and follow up it often requires close consultation with family, teachers and other care takers. In an environment of a program such as Tierra del Sol, the staff is often in the best position to facilitate the meetings which are necessary. They also can provide information needed for diagnosis and follow-up as well as be part of any behavioral treatment plan since they are people in the patient’s environment for most of the day.

Mental Health Services for this Group Time Consuming and  Expensive

Psychiatric services are usually time sensitive. Fees are at least in part determined by the time spent with a patient. Obviously working with this population requires an enhanced time commitment. These are some of the most difficult patients to treat and often requires special expertise and as described above, the use of many collateral interactions which of course is time consuming  MediCal or Medicaid or some other state insurance are often the only insurance which many patients have available to them. It is not surprising that it is difficult to find psychiatrists and other mental health professionals to provide the needed services to this population if the fee imbursement turns out to be relatively low as compared to the non disabled populations.

Now is Time to be Sure that Mental Health Care for this Group is Included

in our Health Care Programs

We are at time in history where we are reevaluating our health care system. We need to be sure that the people who are at the table in formulating our new health care plan understand all aspects of health care including psychiatric care and the delivery of this care to special populations such as those with developmental disabilities. The decisions that are going to be made will be based on cost issues as well as what is ethically and morally right. It is hard to believe that anyone would disagree that it is only right to provide needed services for those who with no fault of their own are developmentally disabled. Our society has a tradition of providing medical care for this group but appears to balk and come up short when we have to come forth with the funding needed to meet the cost of necessary mental health care. The prevailing thought is often that we don’t have an unlimited source of funding. However, if you look at the big picture, providing sufficient funding for mental health care in this population may very well in the long run be a very good investment. The result of proper outpatient treatment will prevent costly inpatient care. Psychiatric treatment which can diminish disruptive behavior or incapacitating symptoms will allow people to better participate in the type of programs described above at Tierra del Sol. This will allow many of them to be productive people doing some work or volunteering in worthwhile service. The impact reverberates on families, schools and on our entire society in a very positive manner.

I welcome your thoughts and comments on this important issue.