TUCSON, Ariz., March 3, 2014 /PRNewswire-USNewswire/ -- Genetic diseases are generally thought to be untreatable, but the underlying mechanisms are biochemical and thus can possibly be modified, writes Los Angeles obstetrician P.J. Baggot, M.D., in the spring issue of the Journal of American Physicians and Surgeons.
Down syndrome results from an extra copy of chromosome 21 (trisomy 21), and thus three copies of each gene instead of two. Either excess or deficiency of various factors can have a detrimental effect on brain development, which involves both proliferation of nerve cells and selective pruning.
Baggot provides three case reports of mothers who attempted to enhance their babies' brain development both before and after birth. They used nutritional supplements, including high-dose vitamins, and stimulation through music and reading aloud.
Four babies (one set of twins) were born lacking typical facial features of Down syndrome, despite confirmation of the diagnosis through chromosome typing.
Intellectual development far exceeded expectations. One child at 34 months met some speech milestones for four-year-olds. A video demonstrated a 17-month infant reading and responding with gestures. A second video showed a 23-month infant reading aloud from flash cards. A third video showed a newborn crawling on the third day of life. These achievements would be admirable in children without Down syndrome.
Previously, six randomized controlled trials showed no benefit from multivitamins in Down syndrome. However, treatments were limited in duration and given late in development; most had no patients under age five. According to Baggot's "five-square" developmental enhancement paradigm, it may have been too late.
"In development, timing is everything," Baggot writes. A valid treatment given too late may have no detectable effect. But correction of nutrient deficiencies earlier, even prior to conception, may have effects years or decades later. Intrauterine factors may have a bearing on adult diseases at ages 60 to 80.
There is now a mouse model for Down syndrome, Baggot writes. The Ts65Dn mouse is trisomic for most of the genes found on human chromosome 21. It has physiologic, anatomic, and functional impairments similar to those in human Down syndrome. Prenatal and postnatal biochemical treatment and environmental stimulation have led to behavioral and cognitive improvement, as well as brain growth and more neural connections.
The replication, survival, and organization of brain cells can be enhanced in many ways, Baggot concludes. "Case reports suggest that several nutrients and drugs are promising. Experiments with mouse models may lead to effective treatments. Proper timing of treatment is crucial."
Importantly, "better understanding of brain development could benefit all children, not just those with Down syndrome."
The Journal is the official, peer-reviewed publication of the Association of American Physicians and Surgeons (AAPS), a national organization representing physicians in all specialties, founded in 1943 to preserve private medicine and the patient-physician relationship.
SOURCE Association of American Physicians and Surgeons (AAPS)