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Autism

This was taken from Medscape.com. It is an interview with Dr. Eric Hollander and reviews a lot of good information on what is currently known about autism. This interview IS nearly 5 years old, but if anything, the support for autism as a genetic entity and the complete lack of corroboration with vaccines as a cause is even stronger today. Read this and see for yourself, particularly if you are at all worried about vaccines and their refuted link to autism.

Autism: An Interview With Eric Hollander MD

From Medscape Psychiatry & Mental Health

Autism: An Expert Interview With Eric Hollander, MD
Published: 02/03/2005

Editor’s Note:
Requests for services related to autism are increasing, although there is controversy over whether this reflects a change in the prevalence of the disorder, better detection, or differences in definition. What is autism? How common is it? What are the best ways to treat it? What makes doing research on autism spectrum disorders exciting today? Elizabeth Saenger, PhD, Medscape Psychiatry & Mental Health, interviewed Eric Hollander, MD, Professor of Psychiatry, Director, Seaver and New York Autism Center of Excellence, Mount Sinai School of Medicine, New York, NY.

Medscape: How would you define autism?
Dr. Hollander: Autism is a developmental disorder that presents before the age of 3 years. It’s characterized by impairment in 3 core symptom domains, which include social deficits, communication difficulties, narrow restricted interests, and repetitive behaviors. In addition to that, there are also other associated symptoms that frequently coexist.

Medscape: What are those other symptoms?
Dr. Hollander: The other associated symptom domains can include factors like inattention and motor hyperactivity, impulsivity and aggression, mood instability, EEG abnormalities or seizure related type problems, and cognitive difficulties.

Medscape: How common is this disorder?
Dr. Hollander: It used to be felt to be very rare. The best estimates now are that about 0.6% of the population, a little under 1%, may meet criteria for the broader autism phenotype, or an autism spectrum disorder. Within that spectrum, we include autism, the Asperger syndrome, and pervasive developmental disorder or PDD NOS — not otherwise specified.

Medscape: How do you treat autism spectrum disorders?
Dr. Hollander: There are a few different treatment approaches. There are behavioral approaches, educational approaches, and medication approaches. We intervene early. There is some evidence that the earlier you pick up the problem and start to intervene with behavioral, educational, speech, and occupational therapy, the better the long-term developmental trajectory. So the idea now is to start to identify people at around 18 months if possible and often to slide people into the educational programs that incorporate a lot of speech and occupational therapy plus behavioral interventions like acute ABA-type treatments — applied behavioral analysis. And there is evidence that these kinds of treatments actually can be associated with better long-term outcome.
We are also finding that medicines may be very helpful in 2 types of approaches. One is a targeted treatment approach where we select a group of individuals who score high on a particular target symptom like lots of narrow, restricted interests, repetitive behaviors, self-stimulation-type behaviors, and compulsive behaviors, and then treat them, for example, with very low doses of selective serotonin reuptake inhibitors like fluoxetine or fluoxetine in a liquid form. We found that will significantly improve the core symptom domain and improve overall functioning.
Other treatment approaches involve stratifying the population, picking up the subgroup with a lot of disruptive behavior, such as impulsivity and aggression, tantruming, self-injury, and treating them with low doses of atypical antipsychotics, such as risperidone. We also have treatment approaches using the mood-stabilizing, anticonvulsant-type treatments like valproic acid or levetiracetam, finding that these medicines may be helpful in a lot of mood instability, a lot of the disruptive behavior like impulsive, aggressive, or self-injurious behavior. Sometimes for language-related functioning, and particularly those with some abnormal EEGs, patients have a very robust response to the anticonvulsant-type medicines.

Medscape: How successful are these interventions in helping people become what society generally considers normal?
Dr. Hollander: It probably depends on the baseline characteristics of the patient, because it turns out that autism is pretty heterogeneous. You have some individuals who have very high IQs and others with severe mental retardation. You have some individuals who have really outstanding verbal skills and others who have no language at all. You have some people who have accompanying seizure problems or other neurologic problems and others who don’t.
So as a group it’s fairly heterogeneous. And we know that individuals who start off with a higher IQ and better speech and language tend to have a better long-term outcome than those who have more severe impairment at baseline.
But we know that with early interventions, both behavioral and pharmacologic, people really can do a lot better, that the symptoms that cause distress can be significantly reduced and their overall functional ability can improve.

Medscape: One thing I’m curious about is the paradox in a way of the idiot savant. Can you say something about that?
Dr. Hollander: What’s interesting is that within individuals you see a scattering of peaks and valleys in terms of skill levels. And you have some individuals who have extraordinary skills in certain areas. That may go along with their narrow restricted interests, where they become preoccupied with certain things and have all the information in the world about those things. And sometimes people can calculate statistics or memorize calendars or have some extraordinary mathematical or physics ability, or even certain visual/spatial abilities, musical abilities, verbal abilities. We think that there may be some positive attributes that may be coheritable with certain autism symptom domains. The idea is that either there are a number of these core and associated symptom domains that need to come together in order to produce the full syndrome of autism, and that in the first-degree family members, and even in the general population, we frequently see impairment in individual symptom domains. These individuals don’t have the full disorder, however, unless they get multiple domains coming together.
Some of the symptom domains that may make up the disorder may also be associated with high abilities in mathematical or visual, spatial, or musical abilities, and it’s not unusual to see in first-degree family members a high skill, for example, in physics, math, or computers. It’s also not unusual to see many family members who have extraordinary technical skills, for example. Within individuals with autism, you do see individuals with these islands of extraordinary skills also coupled with areas of the real impairment. And it seems that many people with autism have difficulties with the higher order of processing of information. They may be excellent in terms of their raw sensory information or their ability to manipulate the sensory information, but they have more difficulty with the higher-order processing or generating abstract conclusions from the sensory information.

Medscape: In other words, they would be like Raymond in the film, Rain Man, where Raymond could do difficult calculations involving the cards in the casino and win a lot of money or figure out how many toothpicks have been spilled on the floor, but in terms of figuring out how much change he would get if he went to the grocery store to buy something, he was a failure.
Dr. Hollander: Yes. I would say that often there are deficits in certain pragmatic skills — how to interact with the world in a social fashion to get what you want from the world — but that they can still have extraordinary specific skills.

Medscape: Can you tell us a little bit about your own research with people who have autism?
Dr. Hollander: Yes. Here at Mount Sinai we have the Seaver and New York Autism Center of Excellence. We have been doing business for over 10 years, initially funded by the Seaver Foundation and now funded by one of the NIH STAART Autism Centers of Excellence. We’re very focused on breaking autism down into the different core and associated symptom domains and finding relevant genes, understanding the specific brain circuits, and developing specific treatments for each of the different symptom domains. For example, we found genetic factors that may be associated with speech and language problems or with the repetitive behaviors. We’ve elucidated the metabolic activity in the limbic system associated with autism. And we have developed new treatments for the symptom domains, particularly the repetitive behaviors and the impulse of aggression. We’ve also been interested in peptides like oxytocin and the role that those peptides play in social attachment and in the repetitive behaviors; we have done some interesting alterations of that system and found that we can improve social attachment and repetitive behaviors by influencing the oxytocin system. We’ve also done research on immune abnormalities that may run in families, and related these immune abnormalities to different symptoms.
We’ve been very interested in the serotonin system and the role that that serotonin system plays in the repetitive behaviors and then how treatments for the serotonin system can improve the repetitive behaviors.

Medscape: This seems to tie into what you once said about the need to look at specific behaviors and then target them with specific medications to improve somebody’s behavior and life.
Dr. Hollander: That’s right. We think that there are basically 2 approaches with medicines. One is the targeted treatment approach where you stratify the population and you select individuals who have specific types of target behaviors that cause distress and interfere with functioning. You start with low doses of medicines and improve those target symptoms to see how that affects the overall level of functioning. Another approach that we’re starting to get into is early interventions to see if we can change the developmental trajectory. In a similar way, early behavioral interventions might improve IQ or social reciprocity with speech and language.

Medscape: The idea of improving IQ seems interesting. Can you tell us more about that?
Dr. Hollander: There are some behavioral treatment studies that suggest that early intervention with behavioral approaches will show an improvement in IQ if you follow individuals over long periods of time.
Some of those studies may be flawed because there wasn’t good randomization and people started with different IQ levels at baseline. But generally people feel that early intervention can be associated with improvement. And when you get clinical improvement, you also see a significant improvement in IQ.
Some of the studies that the STAART Centers are looking at now are early interventions with serotonin reuptake inhibitors that follow people over time to see if we can get improvement in IQ. Recently we’ve also been interested in looking at certain medicines that work on the glutamate system that are used specifically for cognition and memory to see if we can improve cognitive functioning and IQ with those approaches.

Medscape: You mentioned that early intervention in autism means catching a child or a baby at 18 months. How often is autism or potential autism recognized that early?
Dr. Hollander: It used to be very rare, so people usually identified it at around age 3 years when children weren’t talking. Nowadays, there’s a push to identify earlier problems like eye gaze, not interacting appropriately with other children or peers, or not having good joint attention with parents. And sometimes there can be subtle motor abnormalities that may be present at an earlier stage. There are suggested screening instruments, such as the Checklist For Autism in Toddlers — CHAT. Cure Autism Now has suggested that pediatricians routinely administer this to all children at 18 months to try to pick up people with developmental delays who should be screened more carefully afterwards.

Medscape: Are pediatricians doing that?
Dr. Hollander: I think that for the most part now, teachers, pediatricians, parents, and other mental health practitioners are doing a better job screening. There is a bit of a controversy in the field as to whether autism is dramatically increasing because the rates were much, much lower before. That may be because everybody is doing a better job screening, so we’re picking up the milder cases at an earlier stage. The alternative explanation is that there are environmental factors that interact with strong genetic factors to be associated with an increased risk for people presenting with these problems.

Medscape: I know that’s quite controversial. Can you tell us about some of the possible environmental factors that people are thinking about?
Dr. Hollander: Well, there’s been a lot of debate about vaccines — initially the MMR vaccine, and then more recently the thimerosal preservative, which is an ethylmercury preservative that was in certain multidose vials of vaccines. I think that the best available data really suggest that these vaccines are not associated specifically with an increased rate for autism. That’s because there have been good studies, for example, in England, shortly after the MMR vaccine was first introduced, that showed that there was no dramatic increase after it was introduced. The Institute of Medicine recently issued a report suggesting that it doesn’t look like vaccine played a role. It’s clear that mercury can be neurotoxic. It’s not good for the developing brain, but probably is not specifically related to the development of autism.
People have hypothesized all kinds of other factors. We were interested in the role that pitocin played in inducing labor and delivery as a possible risk factor. And other people have postulated that things like folate, for example, that are frequently given, may be an epigenetic factor that can turn on and turn off certain genes that could be associated with a greater risk.

Medscape: How did you get interested in this research area?
Dr. Hollander: Originally we were interested in other disorders that present with repetitive behaviors. And then we had the opportunity to partner with the Seaver Foundation and develop a new autism center.
Studying autism is really a great opportunity because if you understand what goes wrong in autism, you understand a little bit more about what makes people human. It gives you insight into issues around being able to see things from other people’s perspectives and issues around social attachment, which are really what make us human.

Medscape: What do you see on the horizon in terms of research on autism and social movements about autism?
Dr. Hollander: The media have been talking about autism a lot lately. There are a number of debates, for example, about funding issues in terms of ABA. It’s very costly. Does the existing database justify ABA, for example?
There are some controversies about whether autism — for example, Asperger’s disorder — is just an alternative way of being and whether trying to get rid of target symptoms is not allowing certain patients with Asperger’s to fully express who they are.My sense is that it’s pretty clear that if we can reduce certain target symptoms, then people will have significantly less distress and their overall level of functioning will improve.

Medscape: Is there anything else you would like to add?
Dr. Hollander: I think this is an exciting time now. The NIH has taken a big interest in autism and launched STAART Autism Centers of Excellence. Many centers are working together to develop important new treatments. And integrated treatments are probably one wave of the future, integrating the behavioral and the medication treatments together.I think there is a lot of exciting work coming out on genetic findings. Mt. Sinai and the Seaver Center have started to actually see specific genes that may play a role in autism. It’s clear that there’s no single gene, but it may be that if you have a few of these different genes interacting together, you’re going to be at high risk for getting the syndrome. Each of the genes may code for the different symptom domains that need to come together to get the full syndrome.
I think that there are new imaging techniques, like functional MRIs, that are allowing us to design specific kinds of experiments to understand the specific neurocircuits that are involved in the different symptom domains of the disorder.
And finally, there’s a good partnership between academic medical centers and autism advocacy groups. I think the autism advocacy groups have been extremely effective — Cure Autism Now (CAN), National Alliance for Autism Research (NAAR), and Autism Society of America (ASA), for example — in terms of increasing awareness and increasing support for this important area.

Medscape: Thank you very much for sharing your thoughts with Medscape.
Supported by an independent educational grant from Janssen