Things looking up for Down syndrome

While the number of children with an extra 21st chromosome has remained steady, they live longer and better than ever before.

By JUDY SIEGEL-ITZKOVICH
Hadassah Medical Organization 370 (photo credit: Judy Siegel-Itzkovich)
Hadassah Medical Organization 370
(photo credit: Judy Siegel-Itzkovich)
The number of Israeli babies born each year with Down syndrome remains about the same – about 140 – but their longevity, types of treatment and rehabilitation improve all the time, making it possible for them to live longer and be happier than ever before.
One no longer sees newborns with an extra copy of the 21st chromosome abandoned by parents in hospital neonatal units and taken in by nuns in monasteries.
The fourth annual conference to mark World Down Syndrome Day (usually March 21 but changed here because of Passover) was held two weeks ago at at Hadassah University Medical Center on Jerusalem’s Mount Scopus, where Hadassah’s one-stop Center for Down Syndrome – headed by Dr. Ariel Tenenbaum – is located.
The syndrome is named for Dr. John Langdon Down, a British physician who described it in the mid-19th century. The average IQ of young people with Down’s is 50 (compared to 100 for those without the syndrome), but there is a wide variation in abilities.
The emcee of the all-day conference was Efrat Dotan – a very capable woman in her late 20s born to modern- Orthodox Jerusalemites who refused to abort her after learning she had Down syndrome. As an amateur journalist, Dotan has interviewed Israeli physicians, fashion models, Israel’s president and other politicians both here and abroad, and works at Shalva, the capital’s association for mentally and physically challenged children.
Such a professional conference could not have occurred five years ago; knowledge of the syndrome and how to help patients is so much greater, said Prof.
Shlomo Mor-Yosef, former director-general of the Hadassah Medical Organization and current directorgeneral of the National Insurance Institute. His younger sister, 56, was born with Down’s, and he has greeted the participants every year since the event’s inception.
Hadassah-Mount Scopus director-general Dr. Osnat Levtzion-Korach told the audience of 150 that while she was pleased about its Center for Pediatric Genetic and Chronic Diseases, which houses the Down’s Center, not enough research into the syndrome is conducted in Israel today.
THANKS TO to improved medical treatment, particularly of heart problems, the average life expectancy for those with Down’s is 60, compared to 12 years in 1912.
According to the Guinness Book of Records, the oldest living person with the syndrome is an 87- year-old woman in London. Yet, it is not easy. In addition to intellectual disabilities, many patients develop neurodegenerative diseases, including dementia, in the later decades.
Among the symptoms typical of those who suffer from Down’s, besides mental retardation, are stunted growth, a flattened nose, a short neck, weak muscle tone, short extremities, small teeth, a large tongue, crossed eyes and low-set, rounded ears. Tenenbaum noted that other disorders which are more common in Down’s patients are respiratory infections (in children), apnea, low blood pressure, anemia, cataracts, obesity, hearing and vision problems, celiac disease, pancreatic disorders, type 1 and type 2 diabetes, epilepsy and thyroid disease.
Hadassah researchers conducted a study of 104 Down’s children treated at the Mount Scopus and Ein Kerem campuses, and compared them to non-Down’s children. They found that those with the syndrome had to be taken more often to the doctor, were more often hospitalized and suffered more complications than other hospitalized children. Their average hospital stay lasted eight days, compared to just 3.9 days among the other children. “Many more of them needed to be hooked up to oxygen supplies, and many needed intensive care. No one died during the study, but they have to be watched carefully. They all must get vaccinated against the flu,” the study found.
The American Academy of Pediatrics, among other health organizations, has issued a series of recommendations for screening individuals with Down syndrome for particular diseases. As other hospitals often care for patients in a less-comprehensive way than the one-stop Hadassah center, parents of children with Down’s should be proactive in asking questions and in requesting tests and tips for healthful lifestyles and disease prevention.
Sigal Sareli, national inspector for nutrition at the Welfare and Social Services Ministry, noted that many children with Down’s have problems with food intake due to the diseases that accompany the syndrome.
“It’s hard for them to close their mouths on the teats of baby bottles, and they can’t easily eat chunky food; these are added to the difficulties caused by their large tongues and small teeth.”
But children who live with their families experience less obesity than those who live in institutions, according to recent research. At the same time, adults with Down’s are more likely to be obese than those living in institutions.
They generally like to eat junk food, don’t get enough physical exercise, and eat as compensation for their problems or to calm down.
“They should walk, jump and dance in front of their TV sets,” said Sareli. “Many of them also lack vitamins and minerals. There are special growth charts for people with Down syndrome. Fortunately, those among them with celiac can much more easily buy gluten-free food, as this is available in almost every supermarket.”
AT THE previous conference a year ago, Tenenbaum discussed an early, non-invasive blood test for pregnant women that was developed in Cyprus. It was predicted to prevent the births of babies with the syndrome – except for parents who refuse to undergo abortions, namely the ultra-Orthodox. It is not yet available in Israel, said Tennenbaum at the fourth conference, as the developer wanted to conduct more trials.
But there is a similar blood test in the US and Europe that can be ordered here for about NIS 4,000.
Hadassah doctoral student Ofra Engel said that the risk of having a baby with Down’s rises as women get older; women who get pregnant over at the age of 45 have a 1-in-20 risk. Conventional tests – such as alphafetoprotein and nucchal translucency – to detect the syndrome identify only 60 percent of cases, while a combination of tests raise the rate from 80% to 90%.
However, these are not an absolute guarantee that the baby won’t be affected. There are much more accurate but invasive tests, such as amniocentesis and chorionic villae samples, but these are done relatively late in pregnancy. Thus, haredi families and some modern Orthodox families generally avoid them, since an abortion at that time would not be permitted by their rabbis.
Surprisingly, the birth rate of Down syndrome babies is even higher in the US than in Israel, because American women tend to get pregnant later there than in Israel – and is still higher in England, says Engel. The average age of having a Down’s baby here is 35.6, and the average number of children in such families is six.
For every two Jewish Down’s babies, there is one Arab birth with the syndrome – considerably higher than their representation in the population.
THE BIGGEST advances beyond medical treatment are in educating Down’s children, said Yedida Levine- Sternberg, a clinical communications specialist at the Meshi Children’s Rehabilitation Center, Ariel University and the David Yellin College. The expert in supportive communication said it’s harder for Down’s children to acquire a simple vocabulary.
“They also have less understanding and expressions than other children their age. They have a developmental delay. Their learning is less efficient. Children need repetition and illustration for learning new things. Their speech is usually fast and simplified.”
“For years,” continued Levine-Sternberg, “we have been using the strategy of visual stimulation. This technique allows time for exposure and repetition.”
Although sign language is used for the deaf, she says it can also be very helpful for Down’s children. “We speak and use signing at the same time, and this boosts their understanding, improving their verbalization.”
The more helpful of the recent technologies for teaching Down’s children is the iPad, she added.
“There are speaking scenes. They can photograph things in real time. The child can give feedback and explain himself better.”
Rina Cohen, the national counselor for computer communications in special education, added that the iPad is relatively inexpensive, easy to carry and intuitive to use. There are thousands of free applications and many that can be purchased. But the iPad doesn’t replace the computer and both are needed, she said.
“Some of the iPad applications require a connection to the Internet, and it can’t be connected to a printer.
But there are so many applications that enrich their lives – meals, fairy tales, hair salons, play days, baths, monsters, tea parties and so on. They can record their own voices, and two children can play a memory game together, thus increasing their social and communicative abilities. They can play on one iPad and alternate turns, something they probably did not do before.
They can use smartphones to download applications that teach them to lace their shoes, for example. A child life tour shows what happens in hospitals, how broken legs are treated. A hospitalized child can be ‘together’ with his schoolmates.”
In Rishon Lezion, research is being launched on how the iPad helps the autistic and children with cerebral palsy. “The device gives them a lot of self confidence.”
A DECADE or two ago, it would have been unthinkable for a person with Down’s to serve in the IDF. But thanks to a program organized by the IDF and various social agencies, 31 young men and women have joined since 2008, said Danny Katz, the national supervisor for employment and director of the induction project at the Welfare and Social Services Ministry. Seven have completed their service and received the financial and other benefits of any discharged soldier.
“They have to show that they can communicate in a basic way, make social connections, recognize risks, can get to work independently and have normal behavior in which they would not be hurt. There are many units where they can serve, and the numbers are growing,” said Katz. After six months of being volunteers under assessment with a military profile, they can be approved for a regular term of service and drafted.
Some could even go into the army professionally or work as civilians in the IDF. An officer named Idan went on to say that “we are not doing them a favor.
They make many contributions, and their parents also are very proud to see them in a normal framework. It’s also good for regular soldiers to work with the disabled,” he said.
A woman soldier with Down’s who accompanied Idan to the conference said IDF service is “great fun. I want to continue. I come by bus every morning and return home at 4. I count and sort things, and I contribute.”