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Our Studies | Overview


The Developmental Research Program is working on a number of studies investigating different aspects of autism spectrum disorders (ASD) and related conditions. In our largest study, Phenotypic and Genetic Factors in Autism Spectrum Disorders, we are looking at the genetic and environmental factors that may lead to the development of ASD. We are actively seeking families who have a child with ASD, 24 months and older, to participate in this study.

We also have several projects in their early stages. These include a study looking at the effects of disturbed sleep in children and teens with a diagnosis of ASD, and a study investigating the behavioral and cognitive profiles of individuals with certain types of genetic changes.

In addition, our research team has completed a number of smaller studies. These have looked at the adjustment of siblings of children with ASD, gender differences in ASD, and the effectiveness of a program designed to help prepare children with ASD to have their blood drawn.

Phenotypic and Genetic Factors

What are the goals of this study?

The main goal of this study is to explore the genetic and environmental factors that may be involved in the development of Autism Spectrum Disorders (ASD) - including Autism, Asperger Syndrom, and PDD-NOS - and other related disorders. We hope that our findings will lead to a better understand why ASD occurs, and eventually allow doctors to diagnose patients with ASD at an earlier age.

We also hope that our work will lead to new and better treatments for ASD, and better outcomes for children with ASD and their families. We are parterning with the Simons Foundation, the Autism Consortium, and the National Institute of Mental Health for this study.

What is involved?

To achieve these goals, we are looking at many different types information.

Our team interviews all immediate family members, including parent(s), sibling(s) and the child with ASD. Parents answer questions about their child's developmental, behavioral, and medical history, including current symptoms and any treatments the child may have received.

The child with ASD completes some interactive play-based testing with one of our research assistants, and we also collect a blood sample from all participating family members.

This study is usually divided over 2 visits – one at home and one at Children’s Hospital Boston. Free parking at the hospital is provided.

Shortly after the visits, families receive a research report of our observations that includes developmental, cognitive, behavioral and social findings.

Who can participate?

Eligible families have a child with ASD, 24 months and older.

What else is important to know?

All of the information we collect will be stored securely in a way that keeps your family’s participation confidential.

Would you like to learn more?

If you are interested in participating or would like more information, please contact us. We look forward to speaking with you! Visit Phenotypic and Genetic Factors in Autism Spectrum Disorders

Simons Structural Variant Project

Learn more


Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome

  • Hanson E, Nasir R, Fong A, Lian A, Hundley R, Shen Y, Wu B, Holm I, Miller DT
  • In press

Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders

  • Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, Leclair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL
  • AM J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

  • Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; on behalf of the Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration
  • Pediatrics. 2010 Apr;125(4):e727-35

A genome-wide linkage and association scan reveals novel loci for autism

  • Weiss LA, Arking DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A (collaborators from the DRP Include: Ellen Hanson, Stephanie Brewster, Rachel Hundley, Heather Peters, Ashley O'Connor, Aislyn Cangialose, Elizabeth Baroni, Lindsay Jackson)
  • Nature. 2009 Oct 8;461(7265):802-8

Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients"

  • Eran A, Graham KR, Vatalaro K, McCarthy J, Collins C, Peters H, Brewster SJ, Hanson E, Hundley R, Rappaport L, Holm IA, Kohane IS, Kunkel LM
  • J Clin Invest. 2007 Apr;117(4):931-43

The Use of Complimentary and Alternative Medicine by Parents for a Child with an Autism Spectrum Disorder

  • Hanson E, Kalish LA, Bunce E, Curtis C, McDaniel S, Ware J, Petry J
  • J Autism Dev Disord. 2007 Apr;37(4):628-36