Thursday, July 14, 2011

Three Decades and Counting: Margaret Bauman, MD, Honored for Contributions to Field of Autism

Pediatric neurologist Margaret Bauman, MD, still has a letter she received from a mother in the mid-1980s, shortly after she and her research partner, Thomas Kemper, MD, published their paper delineating neuropathological changes in the postmortem brain obtained from an individual with autism. The paper demonstrated for the first time that the disorder was related to abnormalities of neurodevelopment and not to poor parenting.

This letter was one of many received by the investigators following publication of this initial report. Up to that time, the condition had been blamed on the “refrigerator mother,” a term for the alleged emotional coldness that was thought to result in the child’s disability.

Margaret Bauman, MD (right), with a patient at the Lurie Center for Autism

Margaret Bauman, MD (right), with a patient at the Lurie Center for Autism

Seminal Contributions

In the nearly three decades since the report, Bauman’s research and clinical work have been seminal in the field of autism. In l981, she founded a multidisciplinary evaluation, treatment and advocacy program for children, adolescents and adults with a variety of developmental disabilities. The program over time evolved into the Learning and Developmental Disabilities Evaluation and Rehabilitation Services (LADDERS) program, largely serving individuals on the autism spectrum. This program began at the Youville Hospital in Cambridge, but in l995 the program moved under the administration of the Braintree Rehabilitation Hospital and eventually, in l997, was brought under the umbrella of Massachusetts General Hospital by R. Alan Ezekowitz, MD, then chief of Pediatrics at Mass General.

In 2000, Mass General combined forces with Spaulding Rehabilitation Hospital in order to provide a “one-stop shop” of evaluation and services for individuals on the autism spectrum. Over time, the program has continued to grow substantially and in the summer of 2009, received a generous gift from the Nancy Lurie Marks Family Foundation (NLMFF) to expand resources of adults and those needing assisted technology for communication purposes. This year, the LADDERS program became the clinical component of the Lurie Center for Autism at MassGeneral Hospital for Children and Mass General.

In 2003, following a presentation by Dr. Bauman in Portland, Oregon, The Autism Treatment Network (ATN) was launched based on the LADDERS model. Today, the ATN consists of 17 academic sites throughout the United States and Canada, all dedicated to creating multidisciplinary centers of comprehensive medical care for children and adolescents with autism.

This year Bauman was awarded the Lifetime Achievement Award by the International Society for Autism Research (INSAR). This award is given annually to an individual who has made “significant fundamental contributions to research in autism spectrum disorders that have had a lasting impact on the field.”

“There are very few things that leave me speechless, but this was one of them,” says Bauman, whose passion for her field comes through in the fast-talking energy with which she explains her work, past and present. She considered declining the award. “This is not a field where somebody does something by themselves,” she says, referencing her clinical and research staff and mentors over the years. “I couldn’t have done any of this work alone.”

Dr. Kemper, Bauman’s longtime research partner, who is based at Boston University School of Medicine (BUMC), convinced her to accept the award, which was presented at the annual International Meeting for Autism Research (IMFAR) in San Diego, CA. Bauman’s clinical and research colleagues, both at BUMC and at the Lurie Center, as well as many of the Lurie Center families, were thrilled with the announcement.

“We are immensely proud of Dr. Bauman for her accomplishments, perseverance and continued dedication to the field of autism,” says Ann Neumeyer, MD, medical director of the Lurie Center.

Clinical, Research Advances

Bauman is proud of the growth of the clinical program of the Lurie Center and especially of its dedicated and hard working staff. The clinic brings together specialists in neurology, developmental pediatrics, internal medicine, gastroenterology, psychopharmacology, neuropsychology, special education, behavioral psychology, nursing, social work, speech and language, physical and occupational therapy, and assisted technology. The availability of these multiple services in one location reduces duplication and fragmentation of services and interventions. In addition, with the help of the clinic’s recognition for the need for ongoing case management, staff members are able to support families on an ongoing basis and are available to handle any crisis, big or small, that may arise, day or night.

“Families are often under a good deal of stress due to the complexities of caring for a family member with autism,” Bauman says “They need to know that someone is always available to help them should the need arise.”

In addition to its strong clinical program and resources, the clinic is also involved in an expanding number of research projects. In collaboration with colleagues at the Kennedy Krieger Institute in Baltimore, Maryland, the Center has been conducting a prospective study of younger siblings of children diagnosed with autism— children considered genetically at high risk for developing autism — in terms of communication, socialization and motor pattern beginning at 6 months of age.

As a result of this “Baby Sibs” research, which is also being performed in a number of other academic centers, it is now possible to begin to identify some clinical predictors of the disorder between 6 to 12 months of age. However, the diagnostic features do not appear to stabilize until 30 to 36 months of age. Thus, there continues to be a need for the delineation of biological markers that may be able to identify children at risk much earlier. This search is the focus of another project housed at the Center and led by Martha Herbert, MD, PhD, in which women having one autistic child, who are pregnant with their second child, are followed throughout gestation, delivery and thereafter. Additional studies include a bone density study in children with autism spectrum disorders (ASD), who may be at risk for osteoporosis, early evaluation of EEG patterns in infants at risk for ASD, genetic analysis of families at risk in association with the Autism Consortium and assessment of potential creatine disorders in association with the ATN.

Progressing Treatment Options

Dr. Bauman has seen the advancement of treatment options for children with autism through the years, primarily as the result on early identification and intensive services in very young children resulting in substantially better developmental outcomes. Advances in technology have also contributed significantly to improving the lives of those affected with ASD by providing a means of communication for those with severe language deficits. The availability of numerous devices has given many ASD children, adolescents and adults a voice. With these and many other advances, more ASD students are now going on to college or to meaningful employment and more independent lives.

The generous gift from the Nancy Lurie Marks Family Foundation will allow for the expansion of current services and the addition of badly needed opportunities, most especially for the growing number of ASD adults. It will allow for the education of primary care and hospital-based physicians in the care and management of ASD patients, both in offices and hospital-based settings. The grant will additionally support the growth and expansion of an assistive technology program to improve opportunities for communication as well as the direct care of ASD adults in their homes and community-based settings.

Hopeful Future

Bauman has high hopes for the continued growth of the Lurie Center, both in terms of its clinical and research components. The vision for the Center is to build both clinical and basic science research integrated with and around a strong clinical core program.

“The bench scientist needs to fully understand the clinical complexities of ASD and the clinician needs to be more deeply educated as to the current available research and its implication for patient care,” Bauman says.

Bauman would like to see more attention paid to many of the medical conditions that can impact individuals with autism but which, until recently, have received little or no attention. For example, it has now become apparent that gastrointestinal (GI) disorders are frequent among those affected with autism. In March 2009, and in collaboration with colleagues at Vanderbilt University School of Medicine, LADDERS clinicians published a paper in the journal Pediatrics highlighting the association of the MET gene with the presence of both GI tract disorders and ASD. This study supports the need to identify and address GI dysfunction in this subgroup of ASD patients and also emphasizes the need to include medical conditions as part of the clinical phenotyping often associated with genetic research. The inclusion of medical conditions may help us delineate important genetic subgroups.

More studies are being done to determine genetic markers for autism and many candidate genes have been identified as playing a role in ASD. However, researchers are still far from finding an answer. The Lurie Center is a member of the Boston Autism Consortium, which is focused on pooling genetic data from investigators and healthcare providers in the region.

In her acceptance speech, Bauman referenced her early neuranatomic research in which she and Dr. Kemper systematically and simultaneously studied whole brain serial sections obtained from deceased patients with autism and age and sex-matched controls, resulting in numerous publications. However, it is has become clear over time that the autism spectrum disorders are heterogeneous etiologically, clinically and biologically, and that answers will only come with continued research into the similarities and differences expressed among identifiable subgroups.

Bauman continues her research on aspects of brain development. Her current work is being done in collaboration with colleagues at BUMC and involves the investigation of neurotransmitter systems, especially in the cerebellum, and the potential role of hormonal effects on brain development.

Bauman does not see her work as finished. “I really enjoy both the bench research and the clinical involvement with the patients and families. There isn’t a day that goes by that I don’t learn something new. As the saying goes, you do what you love and you love what you do.”

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