AN FYI

[Guest guest]

Name of Study: Clinical and Immunological Investigations of Subtypes of Autism

Location: National Institute of Mental Health (NIMH), Bethesda, land

Eligibility Criteria:

.. Children 1 through 6 years, meeting specific criteria for

one of the following study groups: Autism: Ages 1 - 6 years; Rett's Disorder:

Ages 1-6 years; Developmental Delay: Ages 2-6 years;

Typically Developing control group: 1-6 years.

Principal Investigator: Sue Swedo, M.D.

Contact Information: or NIMH-ASDmail (DOT) nih.gov.

Dear Parent,

We would like to inform you about an opportunity for you and your child to

participate in a research study at the National Institute of Mental Health

(NIMH) - part of the National Institutes of Health (NIH), Department of Health

and Human Services, located in Bethesda,

land.

This study has several goals. One aim is to look at specific aspects of autism,

such as regression (where skills are lost). We will explore whether there is a

unique change in immune functioning related to children with this feature.

Another aim is to serve as one of the sites that will pilot a larger natural

history study, entitled autism Phenome Project. The goal is to further

understand

autism by identifying other subtypes.

We will look at several types of medical issues that may be related to autism,

including immunologic problems. Children will be followed over the course of

several years. We aim to capture medical problems that may be related to autism

as they develop, and study outcomes in

areas such as behavior and language, in order to explore known and new subtypes

of autism.

There will be an initial " baseline " visit, which will include a medical and

developmental history, physical examination,

psychological, cognitive and medical tests to assess symptoms of autism or other

developmental disorders, and photographs of the child's face. This will also

include an overnight electroencephalogra m (EEG), and magnetic resonance imaging

(MRI) scan, and for some children in the autism and Rett Syndrome groups, a

lumbar puncture. The MRI and lumbar puncture may be done under

sedation.

Follow-up visits are scheduled at different intervals, depending on study group,

age and aspect of the study the child is enrolled in. The visits include a short

interview session with the child's caregiver and assessment of the child's

development and behavior.

Some of the assessment measures used during the baseline examination are

repeated, including symptoms ratings, behavioral tests and a blood test. For

some children, the final visit will include repeats of the medical procedures.

Parents will receive a summary of findings from testing. There is no charge for

study-related evaluations. Travel assistance may be provided.

If you are interested in participating, please call for more

information.

Sincerely,

E. Swedo, M.D.

Branch Chief

Pediatrics and Developmental Neuropsychiatry

National Institute of Mental Health (NIMH)

National Institutes of Health (NIH)

Bethesda, land

~~~

Detailed Eligibility Criteria: Subjects may participate in the study

only if they meet the following criteria. (These are taken directly from the

protocol language. Please call the study team for further explanation. )

Inclusion Criteria:

.. Children 1 through 6 years, see specific criteria below for information on

specific study groups

.. Autism: Ages 1 - 6 years; Children with a diagnosis of

autism or referral from professional with concerns of a diagnosis of autism will

be evaluated with the ADI-R and ADOS. Those meeting research criteria for autism

will be included.

.. Rett's Disorder: Ages 1-6 years; Positive genetic screen for MeCP2 genetic

mutation

.. Developmental Delay: Ages 2-6 years; Developmental scores

(Performance Quotient and Verbal Quotient) greater than 1.5 standard

deviations below mean (from our evaluation)

.. Typically Developing control group: 1-6 years; No diagnosis of developmental

delay and no first-degree relatives with history of autism.

Exclusion Criteria:

.. Significant prematurity at birth (less than 32 weeks

gestation); birthweight significantly below normal for gestational age (SGA-

small for gestational age); or diagnosis of cerebral palsy.

.. If behavioral management issues (e.g. self-injury,

aggressiveness) are severe to the extent that the screening protocol was

aborted.