Microcephaly: Amish birth defect

January 30, 2003|By Knight Ridder/Tribune

Dr. D. Holmes Morton was new to Lancaster County, Pa., when he was asked to come see a baby born to an Amish family.

The child had a very small head, but looked surprisingly normal in every other way.

"I could tell by examining the baby it was not the kind of problem that would get better," Morton said.

Since that visit in 1989, Morton has seen about 20 Amish babies with microcephaly, with brains so underdeveloped that there is no chance for survival beyond the first few months.

The babies' heads are 10 to 11 inches in circumference instead of the usual 13 to 14 inches for newborns. Their brains, under MRI exam, look more like those of a 5- or 6-month fetus.

The type of microcephaly is apparently unique to the Amish of Lancaster County, and this fall Morton was part of a scientific team that announced the discovery of a gene that causes the defect. The abnormality is caused by a breakdown in DNA creation during brain development.

The team, which included researchers from the National Human Genome Research Institute, reported there have been 61 babies with microcephaly born to 23 Amish families in the last 40 years. They estimated the defect occurs in about 1 of every 500 births.

Because the Amish community has a well-documented genealogy, the researchers were able to trace the genetic origins of all the modern-day cases to one couple, Jacob and Barbara Stoltzfoos, who lived in Lancaster County in the 1800s.

Dr. Richard Kelley, a Johns Hopkins geneticist who consults at Morton's clinic and was part of the research team, wrote this description of the babies:

"Before they are more than just a few months old, most of the babies develop extended periods of extreme irritability. Eventually feeding becomes difficult and the babies weaken and die, almost always before their first birthdays. Sometimes the children develop rapid breathing and may die relatively quickly at the time of an otherwise simple cold or fever. Regardless of how long the babies live, they show none of the usual development of a young infant, nor do they ever seem to follow or regard faces."

One recent winter, the Amish buried five babies who had microcephaly. Morton now has two babies in his care and knows that soon he'll be called to sign their death certificates.

"A lot of good is done in the community in taking care of these children," he said, "and the families are made better in some way by their efforts in dealing with them."

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