Who are we?
Matt Thompson, MD and Angela Lin, MD
Where do we work?
MT: Spokane, WA
AEL: MassGeneral Hospital, Boston, MA
How do we see people?
MT: General pediatrics group office
AEL: Genetics unit at a pediatric hospital within a major institution
What inspired this article?
We learn about a disorder by starting with the original report. Even though the first patients may not completely represent the people we know now, history is important. More important is a perspective. Dr. Thompson lives in the Pacific Northwest of the USA, and in the state of Washington where Dr. Myhre worked.
What is the name of the article?
“A new growth deficiency syndrome“
What is the name of the journal?
Clinical Genetics 1981
What is the historical context?
Since the mid-19th century, for many children and adults with intellectual and developmental disabilities in the United States, an institutional model provided basic care and residence. Unfortunately, in-part due to over-crowding, lack of financial and work force support, conditions in these institutions became unacceptable. Beginning in the 1960s, there was an effort to close these state funded institutions. This movement towards a community-based system of support and services continues to be pursued. While many residential facilities continue to operate, this movement did bring improvements to many state funded residential facilities.
The Rainier School in Western Washington State is one of the facilities that remains active now and serving approximately 300 adults. This was the location of the two male patients reported by Dr. Selma Myhre 40 years ago. Trained as a pediatrician and pathologist at the University of Washington, Dr. Myhre worked with intellectually and developmentally disabled children and adults at The Rainier School and Western State Hospital until retiring in 1999.
What is important?
This paper provided a thoughtful description, photographs and the recognition that these individuals were different from currently known syndromes. Within 10 years, other single patients were identified.
The molecular basis was reported in 2012, and until then, diagnosis was based on history and appearance. Doctors excluded what was not present. Because these were males diagnosed in a treatment center for developmental disorders, it gave the impression that all patients had the same appearance and challenge. Rapidly, doctors reported milder forms of Myhre syndrome, and a new understanding emerged.
What has been the impact?
The story of Myhre Syndrome is similar to other genetic syndromes. From the initial report, the “phenotype” (appearance, internal defects, growth, function) has been greatly expanded. With the availability of testing for the causative gene (SMAD4), it is now possible to confirm who was affected.