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STAART Network Centers: University of Rochester

Project Descriptions

The Autism Research Centers of Excellence: The STAART Program

Primary Site: University of Rochester
Patricia Rodier, Ph.D., Director
Susan Hyman, M.D., Co-director

Response to early intensive behavioral intervention
Principal Investigator: Klorman; site: University of Rochester

In Monroe County and some neighboring counties, preschool children with ASDs have access to an ABA program as their publicly-funded intervention. Monitoring our clinic data, we know that many children have significant improvement while others do not respond to treatment. The goal of this project is to determine which measures of phenotype predict success in ABA. Our hypothesis is that high rates of sensorimotor rituals, lack of rudimentary communication behaviors, lack of imitation, or aloof social style may be predictors of failure to respond to ABA. In addition, all participants in the study will be genotyped for a set of six candidate genes for susceptibility to autism, to determine whether the behavioral predictors under study or treatment outcome are useful for genetic stratification. For example, two studies indicate that the region of WNT2 is critical in early communication, while RELN, with its role in cerebellar development, is a better candidate for imitation deficits.

Specific Aims:
To test the hypotheses:

  1. Social style predicts response to treatment, with active-but-odd types more likely to improve than others.
  2. Even rudimentary communication predicts successful treatment.
  3. Imitation predicts successful treatment.
  4. Repetitive sensorimotor behaviors ("spinning," "mouthing," "gazing") predict poor treatment response.

Diet and behavior in young children with autism
Principal Investigator: Hyman; site: University of Rochester

A gluten-free casein-free (GFCF) diet is one of the most popular interventions for autism. In our area, about 50% of families with preschool children with ASDs use this diet, despite the absence of evidence for its clinical effects or safety. We have preliminary evidence that many children with autism are at nutritional risk because of their self-imposed dietary restrictions, and that imposition of the diet may result in greater risk. Thus, it is critical to determine whether the GFCF diet has beneficial effects on some patients and to develop criteria for identification of children whose behavior may improve with dietary intervention. We propose a challenge study in which all subjects will be on a strict GFCF diet and all will be receiving the same intensity of behavioral intervention. This study will determine the phenotypic chacteristics of children who respond to dietary intervention and the nature of the response. All participants will be tested for a set of suspected genetic risk factors for ASDs to determine whether any of these are related to response to treatment. Several candidate genes for ASD susceptibility are expressed in the developing gut as well as the developing brain. These include HOXA1 and GBX2. Our hypothesis is that susceptibility genes that play a role in development of the gut are the ones most likely to play a role in response to dietary intervention.

Specific Aims:

  1. We intend to establish a nutritionally complete diet that eliminates all gluten and casein in preschool children with ASD receiving intensive behavioral interventions. The protein nutrition of all children will be monitored before, during and after an eighteen-week period of dietary intervention. Parental adherence to the diet will be monitored and supported by formal diet diaries with nutrient analysis and weekly interviews with a dietitian.
  2. The hypothesis that dietary gluten and casein alter the behavior of a subset of children with autism will be tested by assessment of children's responses to a series of dietary challenges delivered as snacks--containing wheat, milk, both or neither--during their educational program. Both the treatment team and the family will be blind to the content of the snacks.
The treatment team and the parents will collect data for three types of outcomes before and after these challenges:
a) Behaviors related to ASD (e.g. communication, stereotyped behaviors, social reciprocity)
b) Behaviors not specific to ASD (e.g. activity level, sleep pattern, appetite, aggression, self- injurious behavior)
c) Physiologic measures (e.g. stooling pattern, heart rate)

Neurobiology of impaired facial expression in autism
Principle Investigator: Bennetto; site: University of Rochester

Facial movement is critical to the development of language and social signaling and facial imitation is a key component of EIBI training. We have evidence that one mechanism of the imitation deficit in children with autism is motor apraxia. We also have evidence that deficits in emotionally-evoked facial expression in autism include both supranuclear palsy and lower motor neuron dysfunction. This project will explore the relationship between facial nerve function and facial expression and facial imitation in people with autism. All participants will be evaluated for a set of genetic markers thought to be related to ASDs. The goal is to determine whether any are related to facial expression deficits. The hypothesis is that genes related to cerebellar development (RELN, GBX2) may play a role in the motor apraxias of imitation dysfunction, while candidates related to development of the hindbrain motor nuclei (HOXA1, HOXB1) may play a role in dysfunctions of spontaneous and evoked facial expression.

Specific Aims:

  1. Examine facial motility in autism during both nonmeaningful and affective facial expressions.
  2. Test the communicative value of affective facial expressions using naive raters.
  3. Test the underlying function of cranial nerves and their relationship to both nonmeaningful and affective facial movements.
  4. Test the universality and specificity of these models of impaired facial imitation and expression by extending experiments to low functioning individuals with autism. Back to STAART Network Centers Page and Other Centers