Autism Researcher Reports ‘Seismic Shift’ in NIH’s Autism Research Focus

NIH/ACC 2001 Scientific Conference Potential cellular and molecular mechanisms in autism and related disorders.

Sponsored by NICHD, NIEHS, NIMH, NINDS, NIDCD, & the NIH Office of Rare Diseases. Bethesda, MD, USA; Sept 6-7, 2001.

(From Teresa Binstock. 9/11/01)
That a seismic shift occurred at the NIH remains valid -- because for the first time (that I know of), the NIEHS was allowed to participate and arranged some of the presenters whose topics included a viral model of autism as well as several lectures wherein environmental interactions with gene expression were delineated. During virtually all of these presentations, environmental factors were expressed as possibly contributing to autism-spectrum disorders if a genetic susceptibility was present.

A fine moment occurred when one of the environmental presenters and session-chair (JEan Lauder, UNC) was asked to consider acquired susceptibility, as illustrated by glutathione depleted by one process or another. She responded that 'twas a point worth considering and that she hadn't considered the possibility and ramifications of acquired susceptibility. Other speakers had the phrase "genetic susceptibility" roll of their tongues with sadding regularity; these paradigms and related biases are so deeply ingrained. Surely, genetic susceptibility is important and was offered in a context of how environmental factors can affect brain development, but for many children with early onset or regressive autism, research models ought include the concept that a child or parent may have (or have had) genetic and/or acquired susceptibility whereby environmental factors had (or still have) increased influence.

The seismic-shift analogy offers several parallels. First, that the NIEHS and its speakers participated is a positive change. However, the conference's overall sum reflected the components brought forth by the several NIH institutes that hosted the conference. Second, some fine insights were provided by several neurologists, including Diane Chugani and by Marie Bristol, who seems to have an increasing appreciation for regressive autism and for environmental factors. Third, the environmental-factor presentations may even have given "new" ideas to some of the genetics researchers in attendance. However and fourth, several presenters -- led by Cook -- reiterated what many of us perceive as the same-old same-old of endless gene-search quests that are shaped by the multi-gene model and that have precluded (virtually proscribed) the possibility of environmental factors. Fifth, several fields of medicine important to autism were not represented by the presenters. As occurred a last year's similar conference, glaringly apparent was the absence of presenters representing gastroenterology, immunology, and clinical-insights -- eg, DAN-like clinicians presenting treatment-efficacy insights and offering new approaches to diagnostics.

Not surprisingly, when an audience-participant suggested treatment-efficacy data (eg, acyclovir) as a way to perceive possible substrates, Dr. Cook -- in his stylish expertise -- lamented that there are no well controlled studies. Notice, however, that if the NIH doesn't launch such studies, then such studies do not occur. As this situation continues, Cook and colleagues continue their funding monopoly for gene-search quests while the efficacies of various treatments and the etiologic subgroups thus implicated remain neglected.

A point worth stressing is that whereas pharmaceutical approaches to autism-spectrum disorders are important and merit a portion of the program, the NIMH and NICHD administrators ought not limit future treatment-presentations to pharmaceuticals. Too many other treatments (eg, acyclovir, transfer factors, gfcf, CLO, etc) help various subgroups; and those results ought not remain ignored.

More agencies need to participate. NIMH and NICHD seem singularly incapable of presenting immunological, gastoenterological, and newly appreciated clinical aspects of autism. However, in the foreseeable future a solution may not be capable of arising from within the NIMH and NICHD. Instead, a higher level of NIH administration may have to arrange a conference wherein gastroenterology, immunology, and DAN-like clinical insights are not precluded but are included right along with the categories of topics presented this past week.

During one of the conference's breaks I chatted with the NIH's primary coordinator of the conference. In many ways, she seems like a "secretary", but her official title may well be something else. What struck me as important is the fact that this person (Dana) reports not to NIMH, NICHD, or NIEHS but instead reports to a higher administrative level within the NIH. My hunch and hope is that letters which are sent to personnel within higher levels of the NIH will be far more effective than writing letters to NIMH or NICHD. I see no other way to prompt the NIMH and NICHD to move beyond the monopolistically funded multi-gene model that fails to take into account other important data. Clearly, as of September 2001, the NIMH and NICHD are not capable of arranging a complete agenda of speakers. Gastroenterology, immunology, and treatment-efficacy ramifications ought not longer be omitted.

The conference's guiding theme created a restriction of topics. This type of restriction is not necessarily unfortunate, but the narrowly defined focus seems to have been very suited to genetic models and mouse models -- even as other approaches (eg, gastro, immuno, & treatment-efficacy) were effectively kept from view -- except when mentioned in discussion-comments by various non-NIH folks from the autism community. Fortunately, the conference's focus did allow fine presentations of gene/gene-expression/environment interactions. But the scientific/medical categories excluded from this conference are important, urgently so.

The issue of time is crucial. Treatment efficacy is increasingly demonstrated for specific children and in clinics wherein biomedical profiling and treatments are utilized. Parents throughout the nation ought not be asked to what another 5, 10, or 15 years while the various mouse models are further refined, more soft associations with chromosomal regions are re-announced, and while treatment-efficacy insights remain unresearched.

We are not dealing with theoretical exercises here. An autism family's life is shaped by the child's autism and can be re-shaped if and as the child's treatment induces major improvements. For that reason, immunological and gastrointestinal aspects of autism merit inclusion in NIH autism-conferences; and biomedical profiling and the efficacy of various treatments ought have a very high priority at the NIH.

Teresa Binstock Researcher in Developmental & Behavioral Neuroanatomy

(with tears & prayers for those affected by today's tragedies)