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Clinical and Immunological Investigations of Subtypes of Autism
This study is currently recruiting participants.
Verified by National Institutes of Health Clinical Center (CC), November 2008
Sponsored by: National Institute of Mental Health (NIMH)
Information provided by: National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT00298246

The purpose of this study is to learn more about autism and its subtypes. Autism is a developmental disorder in which children have problems with communication and social skills and display restricted interests and repetitive behaviors.

This study has several goals. One aim is to look at types of autism that are known, such as the regressive subtype, (where skills are lost). We will explore whether there is a unique change in immune functioning related to this subtype. 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.

Normally developing children (aged 1-6) and children with autism (age 1-6), developmental delays other than autism (age 2-6), or Rett's disorder (age 1-4) may be eligible for this study.

Depending on each child's study group and age, participants may undergo the following tests and procedures:

Baseline Visit

  • Medical and developmental history, physical examination, psychological, cognitive and medical tests to assess symptoms of autism or other developmental disorders, photographs of the child's face, collection of hair, urine and baby teeth samples. If available, hair samples from the baby's first haircut and from the biological mother's hair are also collected.
  • Overnight electroencephalogram (EEG; for children autism developmental delays and Rett Syndrome): A special cap with electrodes is placed on the child's head to measure brain waves (brain electrical activity) while the child sleeps in the hospital overnight. Healthy volunteers do not undergo this procedure.
  • Magnetic resonance imaging (MRI) scan: The child stays in the scanner, lying still for 10 to 15 minutes at a time. Since it may be difficult for the child to lie still, the test may be scheduled for a time when the child is likely to be sleepy, or the child may be sedated.
  • Lumbar puncture (for some children in the autism, developmental delay and Rett Syndrome groups). This test may be done under sedation.

Follow-Up Visits

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.


MedlinePlus related topics: Autism Developmental Disabilities
U.S. FDA Resources
Study Type: Observational
Official Title: Clinical and Immunological Investigations of Subtypes of Autism

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 250
Study Start Date: February 2006
  Show Detailed Description


Ages Eligible for Study:   1 Year to 6 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes

The sample at study endpoint will contain 50 children diagnosed with idiopathic autism and regression (AUT-R), 50 children diagnosed with idiopathic autism (and no history of regression; AUT-NR), 25 children with Rett's Disorder (RTT) and 50 typically developing children (TYP), matched on ethnicity, sex, chronological age and daycare enrollment. Matching for daycare setting (home versus setting with other children) will be attempted due to the potentially greater immunologic challenge experienced by children in daycare settings. The age range of all groups will be between 12 and 48 months at first visit (with the exception of the RTT group, which will include children up to age 6). We will over-recruit for children in the 12-36 month age range, in order to maximize participants of the age when regression associated with the autism diagnosis is most likely.

The Phenome Project Pilot will also enroll an additional 40 children with autism and 25 age-/sex-matched healthy controls, aged 2-6. In addition, as many as 25 children (ages 2 - 6 years) with developmental delays (without autism) will be recruited as contrast subjects.

Regression will be defined as:

Language loss: Loss of at least 3 spontaneously meaningful words (excluding mama or dada) used for at least a month, and lost for at least a month.


Nonverbal communication/social loss: Loss of more than one nonverbal communicative behavior (e.g. gestures, joint attention, eye contact, imagination, pretend play, sharing, showing, watching children, orienting to name, social smiling, social games, spontaneous imitation of actions, response to social overtures).

Autism groups (AUT-R & AUT-NR): 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.

Although there is overlap in the age period for regression specified in this protocol (regression between 15-30 months) and that described for childhood disintegrative disorder (CDD) (the DSM-IV criteria for CDD indicate apparently normal development for the first 2 years after birth), the criteria for CDD also indicate a diagnosis can only be made if symptoms are not better accounted for by another pervasive developmental disorder such as autism. Symptoms of CDD that separate it from autism include loss of acquired skills in areas such as motor skills and bowel or bladder control, while the focus of the current study is on regression in core symptoms of autism (i.e. socio-communicative skills). Thus, the current protocol will include children with regression over 2 who meet criteria for autism, but not those who only meet criteria for CDD.

Rett's Disorder group (RTT): Positive genetic screen for MeCP2 genetic mutation.

Typically Developing control group (TYP): No diagnosis of developmental delay and no first-degree relatives with history of developmental problems.

Developmental Delay group (DD): Developmental scores (Performance Quotient and Verbal Quotient) greater than 1.5 standard deviations below mean on Mullen Scales of Early Learning


  1. 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.
  2. If behavioral management issues (e.g. self-injury, aggressiveness) are severe to the extent that the screening protocol was aborted.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00298246

Contact: Patient Recruitment and Public Liaison Office (800) 411-1222 prpl@mail.cc.nih.gov
Contact: TTY 1-866-411-1010

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

NIH Clinical Center Detailed Web Page  This link exits the ClinicalTrials.gov site

Study ID Numbers: 060102, 06-M-0102
Study First Received: March 1, 2006
Last Updated: December 10, 2008
ClinicalTrials.gov Identifier: NCT00298246  
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Pervasive Developmental Disorder
Early Development
Pervasive Developmental Disorder
Healthy Volunteer

Study placed in the following topic categories:
Child Development Disorders, Pervasive
Developmental Disabilities
Mental Disorders
Autistic Disorder
Mental Disorders Diagnosed in Childhood

ClinicalTrials.gov processed this record on January 16, 2009