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Autism Spectrum Disorders

Research in the Division of Child and Adolescent Psychiatry

Reward System in Autism

Principal Investigator: Melissa C. Goldberg, Ph.D.

This study is designed to examine the reward system in 8-10 year old boys with high functioning autism (HFA) and typically developing children (TD).  The study involves participating in behavioral testing and fMRI testing. The specific aims of this project are designed to help us understand whether children with HFA differ from TD children with regard to the reinforcing value of social versus non-social stimuli, the functioning of the reward system in general, and whether there are differences in how the reward system in the brain is activated in response to social stimuli in particular. There results will help us to determine whether some of the social deficits present in HFA may be associated with differences (from TD) in the neural reward system and thereby expand our understanding of the underlying mechanisms of autism.

Study Contact:

Melissa C. Goldberg, Ph.D.
goldbergm@kennedykrieger.org

Location: Kennedy Krieger Institute, Baltimore,
Kennedy Krieger School, Rockville

Behavioral Phenotype of Children with Cornelia
de Lange Syndrome (CdLS)

Principal Investigator: Marco Grados, M.D., M.P.H.

This research project, funded by the CdLS foundation of the USA, aims to delineate the behavioral phenotype of CdLS in children ages 5-17 years in relation to measure of maladaptive behavior, autism features, compulsive behaviors, medical manifestations of the disorder, parental stress and family functioning. The design uses mail questionnaires and phone interviews to characterize the full behavioral phenotype of CdLS to eventually associate any behavioral patterns obtained to genetic testing. The CdLS gene, NIPBL, was discovered in 2005 and is a regulator gene of homeobox and other gene systems. While the relationship of NIPBL to behavioral manifestations in CdLS is probably complex, the known genetic networks that NIPBL may impact can give some clues to what causes maladaptive behaviors in children with CdLS. For example, limb sculpting changes (2,3 toe syndactyly) has been found to be highly associated with autistic features in the pilot data, which point to gene networks in common between the two phenomena. 

Study Contact:

Marco Grados, M.D., M.P.H.
443-287-2291
mjgrados@jhmi.edu
                   

Location:

In-home phone interviews and mail questionnaires

The Frequency of Smith-Lemli-Opitz Syndrome and
Hypocholesterolemia in a Population with Autism

Principal Investigator: Elaine Tierney, M.D.  
Co-investigator: Geeta Sarphare, Ph.D.           

Current Status: Analysis Phase; Closed to Recruitment 

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome caused by a deficiency in the last step in cholesterol biosynthesis. Besides causing physical abnormalities, the deficiency affects the synthesis and metabolism of sterol-derived compounds, and the proper functioning of serotonin and other brain receptors. This study will asses for SLOS and quantify cholesterol and all sterol precursors of cholesterol in the blood samples from individuals (age 2 years through adulthood) who gave samples of blood to the Autism Genetics Resource Exchange.

Study Coordinator and Contact:

Courtney Wheeler
443-923-7650
wheelerc@kennedykrieger.org

Location:

Kennedy Kreiger Institute
3901 Greenspring Avenue, Baltimore              

Publications:             

Tierney E, Bukelis I, Thompson RE, Ahmed K, Aneja A, Kratz L, Kelley RI. Abnormalities of Cholesterol Metabolism in Autism Spectrum Disorders, American Journal of Medical Genetic, Part B: Neuropsychiatric Genetics. 2006; 141B:666-668.


The Behavioral Phenotype of Smith-Lemli-Opitz Syndrome  

Principal Investigator: Elaine Tierney, M.D.  
Co-investigator: Geeta Sarphare, Ph.D.             

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome caused by a deficiency in the last step in cholesterol biosynthesis. Besides causing physical abnormalities, the deficiency affects the synthesis and metabolism of sterol-derived compounds, and the proper functioning of serotonin and other brain receptors. The aim is to characterize the behavioral phenotype and quantify the degree of symptoms of autism in SLOS. Individuals with SLOS from age 6 months and older are interviewed and forms describing the person's behavior are completed.

Study Coordinator and Contact:

Courtney Wheeler
443-923-7650
wheelerc@kennedykrieger.org

Location:

Kennedy Kreiger Institute
3901 Greenspring Avenue, Baltimore              

VOLUNTEERS being recruited for this study - Click here if you are interested.

Publications:      

Tierney E, Nwokoro N, Porter FD, Freund S, Ghuman JK, Kelly RI. The behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, 2001 Jan; 98:191-200.


Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

Principal Investigator: Elaine Tierney, M.D. 
Co-investigator: Alka Aneja          

The purpose of this study is to see if simvastatin is helpful and safe to use in youth 4-18 years old with Smith-Lemli-Opitz Syndrome (SLOS). We also want to see if it will help with behavior and the cholesterol balance in the body. Over 26 months, participants will visit the Kennedy Kreiger Institute and National Institute of Health (NH) five times at each site. This study is being done in partnership with a study at the NH in Bethesda, Maryland (Dr. Porter). At Kennedy Krieger Institute, the individuals will have speech and language testing, as well as intelligence testing three times. They have other behavioral testing and an EEG five times during the study. They will be on the study medicine for 1 year and simvastatin for 1 year.

Study Coordinator and
Contact:

Courtney Wheeler
443-923-7650
wheelerc@kennedykrieger.org

Location:

Kennedy Kreiger Institute,
3901 Greenspring Avenue, Baltimore and 
National Institute of Health, 
Bethesda, Maryland           

VOLUNTEERS being recruited for this study - Click here if you are interested.

 
 
Dr. Marco Grados

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Dr. Robert Findling

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Q&A with Robert Findling about pediatric bipolar disorder in BrainWise - Spring 2013.
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