Writing in the Archives of Disease in Childhood (subscription required for full text), Dr. Brian Skotko reports that the number of babies born with Down syndrome has been steadily decreasing around the world as prenatal testing and selective termination have become more widespread.

Skotko reports that a trend toward later childbearing in the United States would have been expected to cause a 34 percent increase in the number of babies born with Down syndrome between 1989 and 2005 in the absence of prenatal testing. Instead, there were 15 percent fewer such babies born, a decrease of 49 percent between expected and observed rates.

With new and more sophisticated prenatal tests expected soon, Skotko called on the medical community to address the ethical questions raised by medical technologies that allow nations to decide what forms of human genetic variation are valued. He urged the medical community to:

– Develop guidelines for delivering a diagnosis of Down syndrome;

– Assemble current and accurate information on Down syndrome, in collaboration with parent support organizations, to be distributed to prospective parents;

– Offer comprehensive training to professionals on how to deliver a non-directive prenatal diagnosis; and

– Develop curriculum to give medical, nursing and genetic counseling students a richer understanding of Down syndrome.

An excerpt:

… In its support for Down syndrome prenatal screening, has the American College of Obstetrics and Gynecology endorsed a climate in which disability discrimination could more easily flourish?

… The age is swiftly coming where not all possible technologic advances may bring welcomed change. Parents who have children with Down syndrome have already found much richness in life with an extra chromosome. Now is the time for the rest of us to discuss the ethics of our genetic futures.

Dr. Brian Skotko is a clinical genetics fellow at Children’s Hospital Boston. ADC is the journal of the Royal College of Paediatrics and Child Health. Press release from Children’s Hospital Boston here.

Full article available for purchase here.

From the Chicago Tribune, Irish Times:

Fetal Alcohol Spectrum Disorders (FASD) Awareness Day, held annually on the ninth day of the ninth month, seeks to draw attention to what many advocates call an “invisible disability.”

The date of the event emphasizes the importance of taking a 9-month pause from drinking alcohol during pregnancy.

Almost 30 years after the U.S. surgeon general began issuing warnings about alcohol-related brain disorders, advocates say the syndrome is not as well recognized as autism, epilepsy or other developmental disorders. Among the reasons, advocates say: social stigma, ambivalence about alcohol consumption during pregnancy, and lack of training for doctors.

The CDC and American College of Obstetricians and Gynecologists say no amount of alcohol can be considered safe for consumption during pregnancy.

Here are some reviews of HBO’s four-part documentary “The Alzheimer’s Project,” which debuts tomorrow. Maria Shriver is the executive producer.

From Mary McNamara in the Los Angeles Times:

‘The Alzheimer’s Project’ is an ambitious, disturbing, emotionally fraught and carefully optimistic four-part documentary exploring virtually every angle of Alzheimer’s disease that can be explored on television.

From Nancy deWolf Smith in the Wall Street Journal:

Beneath all the excitement … the subliminal message here is: Be afraid, be very afraid. If the guesstimate is accurate and some five million people in the U.S. now have Alzheimer’s, we may be tempted to consider that this is a tiny number compared to those who will die of cancer or of the four other more-likely causes of death in the U.S. But as the series repeatedly reminds us, it is the baby boomers who are now heading for the age — typically starting from the late 70s — when Alzheimer’s is most likely to be diagnosed. Not only families, but society as a whole will have to look after these patients, and it will cost a fortune. Nobody says so quite so bluntly, but wouldn’t it be better to pay now, to fund more research, so that we don’t have to pay for an explosion of sick people later?

See also:

‘The Alzheimer’s Project’: An unflinching look at a brain stealer – New York Daily News

Alzheimer’s series a learning tool for Shriver — San Francisco Chronicle

Maria Shriver turns spotlight on Alzheimer’s — NPR

Earlier posts here and here.

(HBO photo from Los Angeles Times)

From the New York Times:

As some schools close during the swine flu scare, parents of students with disabilities have been working to help their kids adapt to unexpected changes in routine. It’s a struggle they handle with humor and grace.

[Caroline] Breuers, the PTA president [at Public School 177 in Queens], summed it up as “a lot of little things that add up to a big headache,” which many parents would surely perceive as understatement. Uncertain prognoses? Worrisome doctor visits? Unpredictability? By now, perhaps, many of the parents at P.S. 177 have got the uncontrollable under control, emotionally at least, a hard-won benefit of having a child whose developmental path meanders. Welcome to their world; maybe take a page from the grace with which they live in it.

From the New York Times:

A surge in autism diagnoses among Somali immigrants in Minneapolis has prompted public health officials to investigate whether the cases are a statistical fluke or an actual outbreak.

However, even if the Minnesota Department of Health epidemiological survey confirms that a cluster exists in that population, it may still not be able to answer why. There are many theories, and all have weaknesses. Among them: living conditions in Somalia or in refugee camps in Kenya, traditional medicines, intermarriage of close family members, genetic predisposition, vitamin D deficiencies due to a lack of sunlight, and vaccines.

Many Somali parents are baffled and frightened; some believe they are cursed.

Earlier post here.

(New York Times photo)

Questions raised: Why aren’t they regulated?

From the Washington Post:

A new generation of prenatal tests for Down syndrome is due to hit the market soon, promising a safer way to detect an extra fetal chromosome earlier in a woman’s pregnancy. But the tests are renewing questions. Among them: Why don’t regulators require such tests to be accurate before allowing them to be offered to the public?

At the same time, abortion foes and disability rights advocates fear that the new tests will prompt more terminations. Advocates also worry that the tests will encourage discrimination against people with Down syndrome and their families.

“We have a history in this country of a eugenics movement where people tried to eliminate certain people from the gene pool,” said Andrew J. Imparato of the American Association of People With Disabilities. “People could start wondering, ‘How did you get born?’ “

According to an investigation by the [UK] Sunday Times, the original study that incited public fears of a possible link between vaccines and autism was based on changed and misreported data.

The study by Andrew Wakefield, published in The Lancet in February 1998, said that children developed autism symptoms and developed inflammatory bowel disease shortly after getting MMR vaccine injections.

The Times investigation now says that most of the cases cited by Wakefield were not as his study described.

Although the research paper claimed that problems came on within days of the jab, in only one case did medical records suggest this was true, and in many of the cases medical concerns had been raised before the children were vaccinated.

Through his lawyers, Wakefiled rejected the paper’s conclusion but declined to comment further. Since Wakefield’s study was published, vaccinations in the UK have dropped dramatically and the number of measles cases has risen from 56 cases in 1998 to 1,348 cases last year — an increase of more than 2,300 per cent.

Related stories from the [UK] Sunday Times:

• Hidden records show MMR truth — A Sunday Times investigation has found that altered data was behind autism-vaccine scare
• How the MMR scare led to the return of the measles