Down’s Syndrome May Be Treatable in the Womb

Parents and siblings of children with Down’s Syndrome are amazing people, as are the children themselves.  Often times, the family members learn so much from the child with Down’s, but it is definitely a challenge I can only imagine.  As a pregnant mother, I refused all testing that would have revealed if I had a child with Down’s, as I would like to think I would have delivered, accepted, and loved my child no matter what. I had two friends who received false positive results on their AFP tests, but they delivered healthy babies.

Often times, families chose to abort rather than birth a child with Down’s, but now there is hope this syndrome can be treated in utero.

According to News Scientist:

When fetal mouse pups that had a syndrome similar to Down’s were treated with nerve-protecting chemicals, some of the developmental delays that are part of the condition were removed.

Children with Down’s have an extra copy of chromosome 21, while mice engineered to have a similar condition are given an extra copy of a segment of chromosome 16. In both species, the development of certain motor and sensory abilities is delayed. These “trisomic” individuals may also have learning difficulties and symptoms of Alzheimer’s later in life.

Inhibiting the neurotransmitter GABA in trisomic mice can improve cognition and some have suggested this could be used in children. It would be even better, however, to treat Down’s before a child is born and so improve cognitive potential.

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As a mother of a child who has experienced developmental delays due to a congenital heart defect, I believe I would undergo in utero treatment to have eliminated these delays. We need to accept humans in all shapes, sizes, and conditions, but it is wonderful that we can also heal them and provide them with a healthier life.

Armed with this knowledge, Catherine Spong and colleagues at the National Institutes of Health in Bethesda, Maryland, injected NAP and SAL into mice pregnant with trisomic pups in the middle of their pregnancy. When the pups were born, they reached developmental milestones such as grasping a rod, righting themselves and responding to tactile stimulation at the same time as normal mice (Obstetrics and Gynecology, vol 112, p 1242). “We were able to prevent a significant amount of the delay,” says Spong.

If this research leads to treatment and less termination, than I think it would be a blessing.  I’d be interested to know how families with children with Down’s Syndrome feel about this study.

Image:  Down’s Support

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