Identification of Characteristics Associated With Symptom Remission in Autism

Autism is defined as a lifelong pervasive developmental disability, as such, symptom recovery
is considered rare. Reports by Lovaas and McEachin, Smith & Lovaas and more recently by
Cohen, Amerine-Dickens, & Smith, Smith Groen et al. and Sutera Pandey et al suggest that
intensive behavioral intervention programs during preschool years may result in improvement
to the point where some children no longer meet criteria for autism by the time they reach
school age. Similarly, there are a large number of anecdotal reports of children with autism
who, following intensive biomedical intervention (e.g., gluten/casein free diets, vitamin
supplements, chelation), are indistinguishable from their typically developing peers. The
goal of the current research is to characterize the behavioral and biological profiles of
children with autism who show significant symptom reduction such that they no longer meet
criteria for autism (Remitted Autism [REM-AUT]) and to contrast them with a group of children
who continue to meet criteria for autism (AUT) and to typically developing (TD) group of
children. Examining whether neurobiological and neurobehavioral symptoms commonly reported in
autism are as frequent and severe in children who have responded to treatment is an important
first step in determining what factors may contribute to symptom remission in autism. In
addition, understanding how children with remitted autism compare to typically developing
children will help us better understand whether symptom improvement is through remediation
(normalization of function) or compensation (achieving the same behavioral/adaptive outcome
but through an alternative process).

- INCLUSION CRITERIA:

STUDY SUBJECTS:

Remitted Autism (REM-AUT) Group:

1. Diagnosis of autism prior to symptom improvement

1. valid administration of ADI and/or ADOS with accompanying interpretive report
yielding an autism diagnosis

OR

2. clinical/developmental evaluation including a detailed review of the child s
history and direct observation of current behavioral functioning resulting in a
documented diagnosis of autism by a child developmental specialist experienced
with autism spectrum disorders such as a developmental pediatrician,
developmental psychologist, child clinical psychologist, or a child psychiatrist

3. measure of cognitive ability from within 1 year of initial autism diagnosis

4. objective measure indicative of prominent autism symptoms using a recognized and
standardized assessment of autism symptoms such as the Social Responsiveness
Scale (SRS), Childhood Autism Rating Scale (CARS), or the Modified Checklist for
Autism in Toddlers (MCHAT) or video tapes of assessments

5. initial diagnosis of autism prior to age 6

AND

6. Medical, educational, treatment record review by PDN branch clinicians to confirm
diagnostic impressions including a detailed description of child s behaviors that
support an autism diagnosis

7. The final decision for meeting diagnostic and treatment history inclusion
criteria is based on PDN branch staff review of the case

8. Treatment history: all participants must have received adequate treatment
intervention for their autism symptoms. Participant medical and treatment records
will be carefully reviewed to ascertain their treatment history

2. Current functioning:

a. Parent report and report of at least one professional that child is no longer
autistic

3. At screening visit (after meeting initial eligibility), will not meet criteria for
autism

1. Must not meet criteria for autism per overall clinical impression based on
information collected from administration of the ADOS, current ADI-R symptoms,
and other clinical observations made the assessment.

2. Teacher/informant report of autism symptoms (such as results from the SRS) not
indicative of autism diagnosis

3. Minimum improvement of symptoms required from group assignment: approximately 2
point CGI severity of illness change (or equivalent) based on PDN impression of
change in illness severity from initial diagnosis (estimated based on review of
past medical records) and current functioning

OR

4. Current assessment of functional impairment due to autism symptoms using a
standardized assessment measure such as the Developmental Disability-Children s
Global Assessment Scale will reflect adequate functioning in all areas and/or a
clinically significant improvement in functioning, consistent with common
psychiatric treatment definitions for treatment response

4. Able to participate in study procedures.

AUTISM Group:

1. Diagnosis of autism following the same criteria as described above

2. Treatment history: all study participants must have received adequate treatment
intervention. Treatment history will be matched to treatment provided to children in
the REM-AUT group.

3. Screening visit (after meeting initial eligibility): will meet criteria for autistic
disorder using the same diagnostic process described for the REM-AUT group above

4. Matched to REM-AUT group on IQ, age of diagnosis, and treatment history. IQ matching
between the AUT and REM-AUT groups will be based on pretreatment estimates of
cognitive level obtained from the medical record review.

5. Able to participate in study procedures.

TD Group:

1. IQ matched to a sub-sample of children in the REM-AUT group with normal range
intellectual functioning. IQ matching between the TD and REM-AUT groups will be based
on current intellectual functioning at the time of study participation.

2. Able to participate in study procedures.

EXCLUSION CRITERIA:

All groups: May not be pregnant or have a known genetic disorder, mitochondrial disease,
history of birth trauma, or current uncontrolled seizures

TD Group:

1. Current diagnosis or significant history of pervasive developmental disorder, language
delay or disorder (except articulation), attention or learning issues, or major
psychiatric condition.

2. Prematurity at birth less than 36 weeks gestation); or birth weight significantly
below normal for gestational age (SGA- small for gestational age).

PARENTS OF ALL STUDY PARTICIPANTS:

As noted parents of all study groups will provide DNA, plasma, and serum samples.