Blog dedicated primarily to randomly selected news items; comments reflecting personal perceptions

Wednesday, August 05, 2015

Another Mystery Medical Finding

"Our findings were shocking, actually. When I showed the results to our clinical geneticists, initially they didn't believe it."
"In five percent, we found these spontaneous, massive changes. For five percent, these big changes are the cause of their CP."

"The other five percent were smaller changes, but affect lots of genes and in some cases were inherited from the parents. And we think they're involved in the medical complexities these kids have."
"I think what's really interesting here is that what was thought to be an almost entirely environmental disorder [caused by fetal injury or infection] has a significant genetic component."
"I can't imagine having a child who's got any disorder and not having some type of an explanation [as to why]. So I think it's pretty exciting that we can actually provide for these spontaneous cases that the parents didn't do anything wrong. They didn't make a wrong decision in their pregnancy or eat the wrong food or expose the fetus to the wrong thing. It was just a random genetic change."
Dr. Stephen Scherer, director, Centre for Applied Genomics, Hospital for Sick Children, Toronto (principal study investigator)

Braden Gandee, 8, who has cerebral palsy, tries out a new customized walker in Ann Arbor, Mich. An estimated 50,000 Canadian children and adults have the condition, which leads to varying degrees of motor impairment, including muscle spasticity and involuntary movements.
Braden Gandee, 8, who has cerebral palsy, tries out a new customized walker in Ann Arbor, Michigan.  (Tom Hawley/Monroe Evening News/Associated Press)

This assurance may provide some small comfort to parents of children who have cerebral palsy, but comfort it may very well represent. Yet, there is plainly nothing they have done to contribute to the fact that they have brought into this world a child whose condition may be coped with to lead as normal a life as possible, or on the other hand, severely impact the quality and length of life of their child and there is nothing much they can do about it.
"For most kids we can find some risk factors — you were born early or you were exposed to this or that — but they're always left kind of wondering: 'If I had done something differently ...' Knowing is a big part of the process of dealing with such a diagnosis."
Dr. Maryam Oskoui, pediatric neurologist, Montreal Children's Hospital, study co-author
Michael Shevell and Maryam Oskoui
The study was co-authored by Dr. Michael Shevell and Dr. Maryam Oskoui at the Research Institute of the McGill University Health Centre. (McGill University Health Centre)
In the case of a child born with Fetal Alcohol Syndrome, the source of the problem is well enough known. Women who are responsible and care about the child they will bring to life, will abstain from alcohol consumption throughout their pregnancy. It helps if a pregnant woman disciplines herself not to smoke while pregnant, to ensure that her child does not become a chronic asthma sufferer, or other lung problems surface, including birth defects and the potential of sudden infant death syndrome.

Medical science has long had the impression that a brain injury in the fetus stage caused cerebral palsy, held to be the most common cause of physical disability in children. A new study published in the journal Nature Communications reflecting the research of a team of physicians at the McGill University Health Centre in Montreal has reached a different conclusion after performing genome sequencing tests on 115 children and their parents.

Ten percent of the children presented with DNA alterations known as copy number variations, (CNVs) affecting clinically relevant genes. Those number variations can be seen as deletions, additions or reorganized segments of DNA having the potential to lead to disease. Roughly two in every thousand babies are born affected by cerebral palsy.

MRI of brains
In the MRI of the brain, gray matter is pale gray and white matter is dark gray. Image 1 shows a healthy brain, while Image 2 shows the brain of a child with cerebral palsy, with red arrows showing scarring over the central gray matter. That leads to stiffness and problems in the coordination of movements. (McGill University Health Centre)

In Canada alone an estimated 50,000 children and adults are burdened with the condition, leading to varying motor impairment degrees inclusive of muscle spasticity and involuntary movements. Epilepsy, learning, speech, hearing and visual impairments are some of the symptoms of cerebral palsy. Some people become mildly affected, and at the other end of the spectrum, some of those with CP cannot walk or communicate.

The genetic testing of that group of affected children from across Canada found that in ten percent of cases what appeared to have caused the condition was DNA structural alterations. Whereas the traditional medical wisdom had it that cerebral palsy was caused by a stroke or infection of the brain in the developing fetus. Or alternately, caused by birth asphyxia; a lack of oxygen to the baby during delivery.

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