For the first time in seven years, the National Institutes of Health has updated its plan for research on Down syndrome, including an expanded focus on how to improve students鈥� learning and memory and help them participate more in K-12 and higher education.
It鈥檚 a big leap from even a decade ago, and an acknowledgment, say advocates and experts on the syndrome, that research to improve children鈥檚 medical quality of life is in some places outstripping the pace of innovations to improve their educational trajectory.
鈥淏efore some of the serious heart issues were solved, the mortality was so high and so young. The longevity has gone way up, and that brings up more issues for research,鈥� said Ricki Sabia, a senior policy adviser for the National Down Syndrome Congress, based in Roswell, Ga. 鈥淲hen my son [now 22] was born, there was no option for college; it wasn鈥檛 something even thought about. Now, 鈥� there鈥檚 something to actually study.鈥�
The NIH is the largest federal funder of research on the syndrome, with an estimated budget of $19 million in 2014, making its priorities critical in setting a path for understanding the condition. When the NIH was implementing its first plan for Down syndrome in 2007, there was no evidence on鈥攁nd there were few researchers even studying鈥攚hat causes problems in memory and learning in people with Down syndrome, according to an analysis by the LuMind Foundation, formerly known as the Down Syndrome Research and Treatment Foundation, in Marlborough, Mass.
Longer Life Spans
The need to understand and support students with Down syndrome in school has risen dramatically, in part because children with the condition are more likely than ever to live long enough and be healthy enough to attend.
Down syndrome is caused by a full or partial extra copy of chromosome 21, the smallest human chromosome, which, according to the NIH, is responsible for 200 to 300 of humans鈥� more than 20,000 genes. These mutations鈥攁ffecting 1 in 691 babies born in the United States鈥攃an cause intellectual disabilities, a characteristic facial appearance, and weak muscle tone.
Up until the mid-1970s, the severe medical conditions associated with Down syndrome鈥攕uch as leukemia, heart defects, and autoimmune weaknesses鈥攎eant that most babies born with it did not live to school age. As the NIH noted, the health advances for those children have been considerable: The average life span of someone born with Down syndrome has risen from 25 in 1983 to more than 60 today.
The National Institutes of Health has released a new, seven-year research plan for studying Down syndrome, which includes a greater focus on students in educational settings. Among the new areas of emphasis:
Coexisting (鈥渃o-morbid鈥�) conditions
RECOMMENDATION: Explore medicines and behavioral therapies for individuals with both Down syndrome and other psychiatric and medical conditions.
EXAMPLE: Study how conditions like obstructive sleep apnea, autism, epilepsy, and psychiatric problems鈥攚hich students with Down syndrome are at greater risk of having鈥攁ffect students鈥� memory, learning, and educational trajectory.
Behavior
RECOMMENDATIONS: Explore new intervention research, including behavioral supports, for use in family, school, and residential environments to help individuals enhance learning, increase physical fitness and maintain healthy weight, and improve quality of life.
EXAMPLE: Devise measures of physical-strength testing and training for students with Down syndrome, who typically lose muscle fitness throughout adolescence.
Communication
RECOMMENDATIONS: Identify effective interventions and educational strategies to help children with Down syndrome process language and enhance their communication skills.
EXAMPLE: Explore and identify underlying causes of differences in English-language development among students from different races or ethnicity.
Adult transitions
RECOMMENDATIONS: Identify medical, intellectual, social, and family factors that may improve students鈥� independence and community involvement.
EXAMPLES: Establish the number of students with Down syndrome who participate in higher education, careers, and volunteering after high school, and identify ways to increase participation.
SOURCE: National Institutes of Health
For schools, that translates to more students with Down syndrome continuing in high school, college, and careers, and more questions about how to include them meaningfully at a time of high-stakes testing and accountability.
The new research plan includes a focus on the complex genetic and environmental interactions that can affect memory and learning in students with Down syndrome.
For example, children with Down syndrome are also at higher risk of having other conditions known to cause problems in learning, including autism disorders; immune weakness that leads to repeated infections and missed school; and obstructive sleep apnea, a condition in which a person stops breathing for brief periods while asleep, reducing oxygen to the brain.
鈥淥n one level, there are interrelationships among all this,鈥� said Michael M. Harpold, the chief scientific officer of the LuMind Foundation. 鈥淭he NIH is trying to get a deeper handle on cognition鈥� through its new research focus, he said.
For example, he noted that one study underwritten by LuMind found students with Down syndrome who had sleep apnea had verbal IQs that were an average of 9 points lower than Down syndrome students with no apnea. The research plan calls for studies of other simultaneous鈥攐r 鈥渃o-morbid"鈥攊ssues and how they may affect cognition.
鈥淗istorically, with intellectual disability, it鈥檚 been taken as something of a given that there鈥檚 nothing to be done. ... But as we learn more, 鈥� the more data we have to develop much better educational and behavioral approaches to improve cognitive function.鈥�
Ms. Sabia of the National Down Syndrome Congress said the focus on how Down syndrome can interact with other issues could also help educators look beyond the syndrome for reasons a student may struggle.
鈥淚 don鈥檛 think people notice when the kid with Down syndrome has [attention deficit hyperactivity disorder] or something else,鈥� she said. 鈥淭hey say, 鈥榊eah, he鈥檚 not reading because he has Down syndrome,鈥� but it鈥檚 like, 鈥楴o, not necessarily, because other kids with Down syndrome read, and maybe he has dyslexia.鈥� 鈥�
Scrutinizing Practice
Emerging research is already finding that common practice for students with intellectual disabilities may not work as well for those with Down syndrome.
A standard early intervention for a baby or child with difficulty learning to speak, for example, is an hour a week of communication instruction, which prior studies have shown to be helpful for infants with intellectual disabilities, broadly speaking. But in a 2014 study in the American Journal on Intellectual and Developmental Disabilities, Paul J. Yoder, a professor of special education at Vanderbilt University in Nashville, Tenn., found that children with Down syndrome needed not one hour a week but five.
鈥淟earning to talk is harder for students with Down syndrome than other children, even when you take into account IQ, developmental age, and chronological age,鈥� said Mr. Yoder. 鈥淚t鈥檚 tempting to think it鈥檚 in the child, but that鈥檚 not true in this case. It鈥檚 that our method of implementing early intervention has not been sufficient.鈥�
In a follow-up study due out later this month, Mr. Yoder and colleagues explore why the time spent in the intervention was so important: Students with the syndrome are typically slower to coordinate communication sounds, gestures, and shared eye gaze, and also slower to learn to close their mouths fully to create specific sounds. Students with Down syndrome in the study who participated in the more frequent training were making speech-like sounds after only three months.
Mr. Harpold of the LuMind Foundation said the NIH research plan is comprehensive, but cautioned that such research projects as tracking the effects of different combinations of disorders along with Down syndrome will be vast, multiyear, and expensive.
鈥淭he biggest issue we still confront there is money; the NIH budget has been flat. How much can you do?鈥� Mr. Harpold said.
Raising the awareness among researchers and educators that students with Down syndrome can and want to continue their education will help them, Ms. Sabia said. 鈥淛ust saying 鈥榩ostsecondary鈥� in [the plan] is an acknowledgment by the scientific community that there is a different future for these young people,鈥� she said.
