Current Research

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The Autism Research Program is made up of several small projects studying the neurobiology and neuropsychology of autism and related disorders, with special emphasis on the communicative and language aspects of the syndrome. Families will be evaluated at the Eunice Kennedy Shriver Center. Children and families will be provided with a free diagnostic and neuropsychological evaluation and all travel costs to the Shriver Center will be paid for by the project.

For more information on specific studies, please contact:

Gail Andrick
e-mail: gandrick@shriver.org
ph: (781) 642-0180
toll free (888) 374-4134

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Drs. Shlomo Shinnar, Isabelle Rapin, and Karen Ballaban-Gil are looking for young children, preferably from the greater NY area who are within 6 (12) months of lanaguage regression, with or without autistic features. EEG monitoring and possibly treatment with medication are planned. (This is a pilot study for a larger multi-institutional treatment study of language regression which will not start for another year.) For more information, please contact:

Dr. Rapin
ph: 718-430-2478
(please leave a message if no response)

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Anne M. Donnelan, Ph.D. and Mary J. Graczyk, MS are looking to borrow videotapes of children labeled autistic for research analysis in order to look at the early development of children with autism. Tapes can be before, during or after the diagnosis and can be in any tape format. Videos should be of babies from ages birth to 3½ years. Originals will not be altered in any way and they will be returned. Privacy will be guaranteed. Dr. Donnellan and Ms. Graczyk are educators and researchers with an almost 20 year history of working with Wisconsin families.

For more information, please contact:

Anne M. Donnellan, Ph.D.
Mary J. Grazyk, MS
ph: 608-263-4362

or send video tapes to:

Anne M. Donnellan, Ph.D.
University of Wisconsin-Madison
432 North Murray Street
Madison, WI 53706

Yale Child Study Center
Yale University School of Medicine
230 S. Frontage Road
PO Box 207900
New Haven, CT. 06502
203-785-2510

http://info.med.yale.edu/chldstdy/autism

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Genetics of Autism: Study of Multiple-Incidence Families: As part of an international collaborative study, the Yale Child Study Center is conducting a research project on multiple incidence in families (families with one autistic child and another child with autism or a related Pervasive Developmental Disorder). Participation in this study involves a brief assessment, given at no charge and blood samples, which are taken from all immediate family members. In addition, parents receive a report, which includes a diagnosis and recommendations for intervention, also free of charge. The goal of this study is to identify specific gene or genes which may be involved in the etiology of autism and related conditions.

Parents may contact:

Kathy Koenig
p: 203-737-4337

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Yale-LDA Social Learning Disabilities Project is a comprehensive research program that addresses a wide number of issues related to high-functioning, pervasive developmental social disabilities such as those characterized by Asperger’s Syndrome (AS) and high-functioning autism. The Yale-LDA Social Learning Disabilities Project includes four different components designed to investigate possible origins of the disorder, the formulation of reliable diagnostic criteria, and possible treatments. These components include: 1) Diagnostic assessments 2) Neuropsychological testing 3) Brain Neuroimaging and 4) Molecular Genetics. As part of the project family members (parents, as well as all siblings) are intied to participate in the research protocol. The process for the family includes of several structured interviews with the child and other interviews with the parent(s), a battery of neuropsychological and intelligence tests administered through pencil-and-paper as well as computer, a speech and language test, a blood sample, and the MRI. Apart from the MRI, all family members complete a similar version of the testing protocol. At the end of the visit, there is a brief feedback session to discuss the preliminary results of the visit as well as pertinent concerns that the parents may have. A research report summarizing the evaluation is mailed to the family approximately six to eight weeks following the visit. Families are selected to participate based on the outcome of an extensive Review Phase. Individuals from 8 to 24 years of age, with an IQ of at least 70 and who meet the diagnostic criteria may be considered for this study.

Those wishing to enroll may do so either by contacting:

Shannan Smith
p: 203-785-3488
w: http://info.med.yale.edu/chldstdy/autism

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Psychopharmacology Studies: The Yale Child Study Center is participating with four other sites in the US in the Research Units in Pediatric Psychopharmacology (RUPP) Program. These sites are conducting a study of respiridone in children with behavioral problems associated with Pervasive Developmental Disorder (PDD). Fred Volkmar, M.D., Andres Martin, M.D., and Larry Scahill, Ph.D. from Yale are involved in this effort.

Along with the other sites, Yale is studying the efficacy and safety of other medications in children with a PDD. These medications are currently approved for adults for problems such as inattention, anxiety, obsessive compulsive behavior, or aggressive and self-injurious behavior. Different medications may have been used with other pediatric populations with psychiatric disorders, yet few studies of medication efficacy and safety have been conducted for children within the PDD spectrum. Our goal is to develop research in this area, so that child psychiatrists and pediatricians can make informed choices about medicating children with a PDD, based on the scientific literature.

We are able to offer medication consultation and follow up free of charge to children who participate in these studies. Given the close monitoring that is necessary when a child is taking medication, we are able to offer participation in these studies only to children who live within a reasonable distance of the Child Study Center.

Contact:
Kathy Koenig
ph:203-737-4337

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Nonverbal Cognitive Abilities in Autism/PDD: The Leiter International Performance Scale is a non-verbal measure of intelligence. It was developed for use with deaf children, but it has been used widely to measure intelligence in children with autism. More recently, a revision of this test has been published. We are conducting a study to investigate how these two tests compare. Children with autism would be tested using both instruments. Each test will produce an IQ score, and in addition, help us to determine what are the child’s strengths and weaknesses. Parents will receive a report describing the results of the testing, with recommendations for educational and behavioral programming.

Neuroimaging Studies in Autism and PDD: Magnetic Resonance Imaging (MRI) is a non-invasive brain scan in which images of the brain are examined at different angles. Abnormalities in brain structure and function can sometimes be identified. The Yale Child Study Center is currently performing MRI on children age 7 or above with autism and pervasive developmental disorders. Currently, only children who are able to lie still while the scanning takes place are eligible. However, we are exploring the possibility of using medication to help children relax during this scan. Children who participate in this study will also have IQ testing and an assessment of social functioning. Feedback regarding the results of this assessment will be made available to parents.

For more information call:
Jamie Kleinman
ph: 203-737-4421

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Childhood Disintegrative Disorder: The Child Study Center is conducting research on children diagnosed with Childhood Disintegrative Disorder (CDD), also known as Heller’s Syndrome. This research is aimed at understanding genetic mechanisms, changes in the structure and function of the brain, and the progression of the disease. Children who have been diagnosed with CDD are invited to the Child Study Center for several days for psychological testing, including an assessment of cognitive abilities, social behaviors, and current adaptive functioning. A psychiatric assessment, genetic testing and an MRI are included as well. A comprehensive report describing the child in terms of diagnosis, cognitive and social profile, as well as recommendations for intervention is written, free of charge. This report can be used by parents to help guide intervention. However, because the focus of the evaluation is research, the assessment is neither as exhaustive nor as detailed as a comprehensive clinical evaluation.

For more information contact:
Kathy Koenig
ph:203-737-4337

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The Seaver Center for Autism Research and Treatment

For more information on the studies below, please contact:

Dr. Eric Hollander, Clinical Director
Seaver Center, Mount Sinai School of Medicine
New York, NY
ph: (212) 241-2994
e: E_Hollander@smtplink.mssm.edu

Additional information is available at the seaver center website at www.mssm.edu/psychiatry/seaver.html

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Fluoxetine Study
Fluoxetine hydrochloride (also known as Prozac) is an antidepressant used in the treatment of Obsessive Compulsive Disorder and Depression. Prozac is not currently approved for treatment of autism, but there is evidence that it may be helpful in the alleviation of certain symptoms that are present in autism and Asperger’s disorder, namely: repetitive thoughts and ritualistic behavior, impaired social interaction, and speech and language difficulties.

Our fluoxetine treatment program is available to children (starting age 5) and adults in the form of a 16 week double-blind placebo controlled crossover study. This means that for half of the trial (8 weeks) the patient will receive Prozac, and the other half of the trial receive a placebo (sugar pill). It is by chance whether the patient gets the active medication during the first phase of the trial or the second, and neither the treating physician nor the patient (or his/her family) will know for certain whether the patient is on the active medication or the placebo during each of the phases of the study. This allows the treating physician and the family to judge the effectiveness of the medication without being affected by the desire for medication to be helpful. After the study is completed we will reveal in which phase the patient was on active medication.

General requirements for participation: 1) You must be willing to attend several partial days of pre-study testing (EEG, blood tests, diagnostic testing) to see if your child qualifies for participation in the study. 2) You must be willing to come to the Seaver Center (Upper East Side of Manhattan) once a week for approximately 45 minutes, during normal workday hours for the duration of the study. This is important, as we must closely evaluate your child’s progress on medication. 3) You must be willing to taper your child off other medications prior to the study (we will help you do this safely). 4) You must be willing for your child to be on a sugar pill (placebo) for half of the trial. If your child must taper off other medications prior to starting the study, s/he may experience up to 10 medication-free weeks.

Family Genetics Study is committed to reaching a better understanding of the genetic components of autism through the use of molecular biology and quantitative genetics. Previous family study findings suggest transmission of autism and related disorders through families. The current study being conducted is a genetic linkage study of multiplex families (families with two or more siblings with autism or its related disorders, or one parent and one child).

General requirements for participation: The study is available for children and adults, and involves diagnostic assessments of the family members with autism or related disorders, psychological questionnaires, and a collection of a small blood sample from the affected individuals and immediate family members. Each diagnostic interview takes approximately 3 hours with the parents of the affected child. The researcher and phlebotomist make a visit directly to your home so that you don’t have to bring the whole family to our research center. All results from the genetic testing are shared in an anonymous way with other national and international data banks so that larger groups of families can be analyzed for the genes involved in the transmission of the disorder.

Divalproex Sodium/Prozac Study
Divalproex sodium (alsoknown as Depakote) is a mood stabilizing medication that is used to treat epilepsy, migraines, and mania. Preliminary evidence suggests that Depakote reduces some symptoms of autism: impulsivity, aggression, social and language deficits. Depakote is also thought to work well in conjunction with fluoxetine (Prozac) by lessening its possible side effects (e.g. agitation, hyperactivity).

Our trial is 16-week double blind placebo controlled parallel study. This means that a group of patients will receive Depakote for 8 weeks, and a group will receive placebo pills for 8 weeks. The groups will continue to receive that same medication/placebo for the second 8 weeks, but will all have fluoxetine (Prozac) added to the regimen. Currently the study is only available for children and adolescents (age 5-17).

General requirements for participation:
1) You must be willing to attend several partial days of pre-study testing (EEG, blood tests, diagnostic testing) to see if your child qualifies for participation. 2) You must be willing to come to the Seaver Center (Upper East Side of Manhattan) once a week for approximately 45 minutes, during normal workday hours, for the first 4 weeks of each 8 week phase, and then once every other week during the last 4 weeks of each phase of the study. This is important, as we must closely evaluate your child’s progress on medication. 3) You must be willing to taper your child off other medications prior to the study (we will help you do this safely). 4) You must be willing for your child to be on a sugar pill (placebo) instead of Divalproex medication during the trial. If your child must taper off other medications before starting the trial, and receives the placebo pills during the first phase, your child may experience a total of 10 medication-free weeks. While your child may receive a placebo during the first half of the trial, all children will receive fluoxetine (Prozac) during the second phase of the trial.

fMRI (Functional Magnetic Resonance Imaging) Study
An fMRI is a scan of the brain which is done while an individual lies on a table within a large hollow structure. It is a non-invasive, safe procedure: there are no injected dyes, glucose consumption or radiation involved.

The current study is looking at the way autism and Asperger’s patients perceive and label emotions. Because lack of insight into other’s thinking and emotional blunting are typical deficits in these disorders, we would like to observe patients’ brain activity while they attempt this emotional labeling task. We will then compare these observations to those of individuals unaffected with these disorders. In order to facilitate these observations, patients will be shown pictures of people expressing an emotion and will be asked to identify (name) the emotion being expressed. All of this will take place during the fMRI procedure.

General requirements for participation
Appropriate patients for this study can be children (starting age 5) or adults, but they must be able to lie still for discrete periods of time, and need to be able to verbalize well enough to accomplish the emotional labeling. Diagnostic testing will take approximately 2 hours, and a blood sample (one teaspoon) will be taken from the subject. The total time in the fMRI is 60 to 90 minutes. There will be $50 compensation for completion of the study.

D8/17 Study
The purpose of this study is to examine an immune system abnormality thought to occur in autism/Asperger’s disorder. D8/17 is a protein found to be present in abnormal amounts in the blood of patients who develop Rheumatic Fever, Tourette’s, or Sydenham’s chorea. Each of these disorders manifests with obsessive-compulsive symptoms similar to those seen in autism, and preliminary studies have found abnormal levels of D8/17 in autistic patients as well. Furthermore, viral and bacterial infections are thought to exacerbate the symptoms caused by the abnormal presence of D8/17. Therefore, this study is looking to examine a large sample of autistic/Asperger’s patients in order to see if their blood also contains abnormal levels of D8/17, and whether D8/17 levels are higher in patients with a higher severity of autism in general, and specifically with obsessive-compulsive symptoms. If D8/17 is discovered to play a significant role in the severity of autism, future medical research can be directed toward treatment of this immune system abnormality.

General requirements for participation
The current study is available for children and adults, and requires a diagnostic interview (approximately 3 hours long with the parent(s) of the affected person), psychological questionnaires, and a blood sample of approximately 4 teaspoons in volume. The blood will be tested for the presence of the D8/17 protein as well as for evidence of recent viral infection. In families where there is more than one child with an autism spectrum disorder, blood samples may be obtained from each member of the immediate family. This will help us to discern whether the tendency to have an abnormal amount of D8/17 protein in the blood is passed down through families. In families with only one child affected with an autism spectrum disorder, we are currently requiring concurrent participation in another study in order to participate in this study. Because the diagnostic interview is a great cost to us, we need to be able to use these interviews across studies. If your family does not want to participate in another study, you may send us an application for this study anyway, and we will keep it on file in the event that we are able to further open up the study in the future. We do provide families with the results of the D8/17 testing if desired. Although the significance of the study’s findings is being investigated, we will share any current understanding about the implications of the results for treatment or better comprehension of the disorder.

PET (Positron Emission Tomography) Study
In concert with Columbia University, we are starting a study examining the function of serotonin in the brain of patients with autism or Asperger’s disorder. This study will involve a PET scan of the brain after a patient has been given an intravenous dosage of a small amount of radioactive tracer, through which the brain’s physiological activity can be viewed. An MRI scan will also be done in order to map the structure of the patient’s brain.

General requirements for participation
Eligible participants are adults only who are able to lie still for discrete periods of time, who are not on medication at the time of the study, or are willing to taper of medication in order to participate in the study. Psychological and diagnostic testing will be done prior to the MRI/PET scan. The PET scanning procedure will take 20-30 minutes; the MRI procedure lasts for approximately 60 minutes. Compensation of $100 is provided for completion of the study.

Biological Challenge Studies
A "biological challenge" consists of an overnight stay at a research center in the hospital, during which we administer a small dose of medication that acts on the neurotransmitter and hormone systems within the body. For a person with autism or Asperger’s disorder, these medications may affect certain symptoms such as repetitive behavior, impaired social functioning, and communication difficulties. The observation of the effects of these medications may contribute to finding new medications for future treatment. The different medications administered for the studies are 1) Oxytocin, a medication associated with social interaction and bond-forming in infants, 2) Sumatriptan, a medication which acts on the level of the brain chemical serotonin, 3) m-CCP, a medication which acts on the level of the brain chemical serotonin, 4) Placebo, a sugar pill which is used as a control in the study

General requirements for participation
Participation in the study is restricted to adults only, and involves diagnostic and neuropsychological testing, a physical examination, blood and urine tests, and an EKG. It requires an overnight stay at the hospital (7:30pm check-in the night before and a discharge at 2pm the following day). Appropriate patients for these studies are those who: function semi- or totally independently, can withstand an overnight stay, and can tolerate the presence of an intravenous line for the periodic taking of blood samples. Patients are compensated for their time--$150 for the first biological challenge completed, and $100 for each subsequent challenged completed. Processing time for the reimbursement takes approximately 6 weeks after the last day of participation.