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Autism-relevant profiles in neurogenetic syndromes

February 1, 2022 - December 1, 2023

The results of this study will allow for a more detailed characterization of communication skills, social reciprocity, repetitive behaviors, and motor skills in people with ASD and co-occurring developmental delay or intellectual disability, as well as ASD secondary to Angelman syndrome or Dup15q syndrome.

What are the goals of the study?

The goal of the study is to learn more about communication skills, social reciprocity, repetitive behaviors, and motor skills in people with Angelman syndrome, Dup15q syndrome, and ASD with accompanying intellectual disability or developmental delay. The hope is that results can inform differential diagnosis, and provide a benchmark for the effectiveness of various types of interventions for these populations.

What will happen during the visit or online?

Participation is fully online. You will spend 30-50 minutes completing a survey about your child’s development and current functioning. You may be asked to provide copies of your child’s genetics report if applicable, or a report of past cognitive or psychological testing. After completing the study, you will receive a $30 Amazon gift card.

How will this help families?

We hope that in the future, the results of this study could facilitate more accurate diagnosis and better-informed interventions. Furthermore, data from this study will help with the development of a communication screening tool for nonverbal or minimally verbal autistic people.

Eligibility Criteria

We are enrolling individuals from the following groups:
1) Parents or caregivers of people diagnosed with Angelman syndrome
2) Parents or caregiver of people with diagnosed with Dup15q syndrome
3) Parents or caregivers of autistic people with intellectual disability or developmental delay (without a genetic syndrome)

We are enrolling a wide age range (age 3-80). Participants must be native English speakers.

View the study flyer here.

Contact Information
Research Study Website
University of Connecticut, Connecticut Autism and Language Lab

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