Friday, May 7, 2010

Lurie Family Autism Center/LADDERS Program

Margaret Bauman, MD

Margaret Bauman, MD

A part of the Lurie Family Autism Center at Massachusetts General Hospital and the MassGeneral Hospital for Children, LADDERS (Learning and Developmental Disabilities Evaluation & Rehabilitation Services) is a multidisciplinary program designed to evaluate and treat children, adolescents and adults with a wide variety of handicapping conditions. The Lurie Family Autism Center/LADDERS provides expertise in neurology, developmental pediatrics medicine, gastroenterology, psychiatry, psycho-pharmacology, occupational therapy, physical therapy and speech language pathology. LADDERS is born out of a philosophy that developmentally handicapped persons deserve to be viewed as individuals, each with personal patterns of talents and challenges. We strongly believe each individual deserves the opportunity for careful evaluation as well as access to the quantity and quality of services needed to reach his or her full potential, regardless of economic, social or ethnic background.

1) Autism Consortium - LADDERS is part of a Boston wide program to look at the genotypes in autism. Children and families are referred for genetic analysis, blood samples are obtained and phenotypic descriptors obtained.

2) Autism Treatment Network (ATN) - LADDERS is the founding site for this nation-wide program that also includes one academic center in Canada (Toronto). The goal for the ATN is to obtain phenotypic data on large numbers of autistic children, ages 3-18 years and to address health care issues such as sleep disorders, gastrointestinal disturbances, metabolic disorders, and other medical issues. LADDERS is involved in GI studies and one metabolic study dealing with creatine deficiency.

3) Dr. Ann Neumeyer is leading a study, under the auspices of the ATN, looking at bone density in ASD. There is a growing concern regarding osteoporosis in this group of children because they have self-restricted diets and because many families put their children on gluten and casein free diets which limits calcium intake. Some medications and chelation may also contribute.

4) LADDERS is also involved in a Baby Sibling study with colleagues at Johns Hopkins looking at early identification and outcomes of children at risk for ASD because they are younger siblings of already diagnosed children with ASD. Goal of the study is to identify clinical symptoms as early as possible so as to initiate effective interventions as soon as possible.

5) Studies that I discussed at Grand Rounds included four - now completed and published

a) Study done with Columbia in NYC - in collaboration with Ian Lipkin - looking at GI track tissue in ASD children and controls with regard to presence of measles virus. Results indicate that measles virus is not present in these samples - studied in three different labs.

Tim Buie and I are co-authors. First author is Mady Hornig.

b) Study looking at mitochondrial disorders in ASD - published in online journal December 2008. First author Weissman. Kay Murray and I are co-authors. Highlights clinical presentation of these children which may separate them out from those with "essential" autism. These children, by virtue of their diagnosis, are a genetically different subtype than other groups.

c) Study of the MET gene and its relationship to ASD. Published in Pediatrics in March 2009. First author Dan Campbell. Shows correlation between ASD and GI tract disorders in those positive for the MET gene. Those ASD children negative for the MET gene did not have GI disorders. Another genetic subgroup perhaps!

d) Supplement to Pediatrics - January 2010 - consensus papers (2) on GI tract issues in ASD. Tim Buie is first author on both.

6) Dr. Katherine Martein is studying physiologic measures using EEG in younger siblings of ASD children, looking at the presence of central coherence.

7) Dr. Martha Herbert and I are co-investigators on a DOD grant following mothers of ASD children through their pregnancy, the birth of their child and for 2-3 years thereafter. Looking for biomarkers that might be diagnostic of ASD before, at or just after birth.

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