Down Syndrome Research Forum 2014

We are accepting submissions and booking is now open for the 2014 Down Syndrome Research Forum.

The Department of Psychology at Lancaster University is hosting the 2014 Down Syndrome Research Forum on 24 and 25 September in collaboration with Down Syndrome Education International. The Down Syndrome Research Forum provides an opportunity for researchers active in areas related to Down syndrome and those working with people with Down Syndrome to meet, share ideas, and discuss recent findings and implications for practice.

Find out more…

Terminations of babies with Down syndrome in England

Last weekend, the UK Sunday Times reported that many terminations of babies with Down syndrome are not being correctly recorded by the Department of Health. In many reports that have since appeared online it has been stated that in England 92% of babies with Down syndrome are terminated. This is incorrect.

You would think from some of the reports and comment that have appeared online in the past week that the births of virtually all babies with Down syndrome in England are prevented through prenatal screening and selective terminations. This is not the case:

It is true that 92% of diagnosed pregnancies are terminated. However, this is very different from 92% of all pregnancies. Many people choose not to screen. Many who are screened and receive a ‘high risk’ result choose not to have invasive diagnostic testing as it carries a risk of miscarriage. Some who are screened and do not receive a ‘high risk’ result will, in fact, go on to have a baby with Down syndrome.

Overall, the rate at which live births are reduced due to prenatal diagnosis and selective terminations in England and Wales in recent years was around 50%-55%.

UK Communication Trust lists RLI in What Works database

The Communication Trust – a coalition of nearly 50 voluntary and community organisations with expertise in speech, language and communication – has recently listed DSE’s new reading and language intervention in its What Works database of evidenced interventions.

RLI HandbookThe Communication Trust in the UK is a coalition of nearly 50 voluntary and community organisations. Working with the Better Communication Research Programme they have developed a database of evidenced interventions to support children’s speech, language and communication – the What Works database.

The Communication Trust’s What Works database includes over 60 interventions, assessed for inclusion in the database by independent experts. The What Works database is endorsed by the Royal College of Speech and Language Therapists. The entry for RLI in the What Works database (registration required) observes:

“A key feature of RLI is that it is designed to be suitable for children across a wide ability range and content is adapted for each individual child, with assessment and daily record keeping built into the delivery of the programme. The Language Strand can be used for children with language ages from 2 years and the Reading Strand for beginning readers to a word reading age of 8 years. The RCT data supports starting reading instruction for children with Down syndrome at 5 years of age as younger children in the study tended to make more progress…

“RLI has a moderate evidence level. Within the evidence there are examples of significantly positive outcomes for children with Down syndrome, all of whom have language difficulties, though children continue to need additional support.”

(By the criteria applied, a “strong” level of evidence would require multiple trials and a systematic review – we are going to have to wait a while for that!)

It is great to see RLI – and the evidence underpinning it – assessed, recognised and listed here to bring it to the attention of Speech and Language Therapists and schools looking for interventions and teaching approaches with good evidence supporting their use.

DSE’s reading and language intervention (RLI) was evaluated in a landmark randomised controlled trial involving 57 children with Down syndrome living in two areas of the UK. It is now being used in hundreds of schools throughout the UK and in the US to provide highly structured, individualised teaching for children with Down syndrome. DSE is continuing to develop support networks for the new intervention, including accredited trainers in both the UK and the US, and continuing to evaluate and develop the teaching programme.

Supporting families and educators across the US

DSE is continuing to reach families and educators across the US, improving early intervention and education for many thousands of children.

Professor Sue Buckley and Becky Baxter have been in the US for a couple of weeks, presenting to packed conferences – first in Kansas City, hosted by the Down Syndrome Guild of Kansas City and now in Irvine, hosted by the Down Syndrome Association of Orange County, the Down Syndrome Foundation of Orange County and the University of Irvine School of Education. Over 500 families and educators attended the Kansas City conference and over 300 are attending in Irvine today.

Irvine Down Syndrome Education Conference 2014

It is just over four years since we last presented a conference in Southern California – not long after we established Down Syndrome Education USA. In this short time, we have supported many thousands of families and educators across North America through conferences, specialist resources and research collaborations in the US. We are continuing to develop resources, including new See and Learn kits and apps, and to support the rollout of our new reading and language intervention (RLI) in the US.

We will be presenting at the Down Syndrome Affiliates in Action  conference in Washington DC at the end of February and are presenting an education conference in Covington, LO, in September. We are training educators across Texas via videoconferences and working with Hoffman La-Roche to support investigator training in the US for their forthcoming trial of RG1662 with adolescents and adults with Down syndrome.

We work closely with our partners at the Down Syndrome Foundation of Orange County who are busy expanding the Learning Program, providing evidence-based educational support to families in southern California and around the country through their many partners.

Together, we are improving early intervention and education of many thousands of children, but there is still so much to do. To support our work in the US, please consider donating to Down Syndrome Education USA. Your support is vital.

If you are interested in hosting a DSE education conference or any other aspect of our work in the US, please get in touch.

There are around 250,000 people with Down syndrome living in the US – not 400,000

A paper published recently in The Journal of Pediatrics estimates the population of people with Down syndrome alive in the USA in 2008 – not the oft-stated 400,000. Even this may be an overestimate.

It is important to understand the size and the demographics of populations of people with Down syndrome in order to plan services. In an important paper, recently published online by The Journal of Pediatrics, Angela Presson and colleagues present an estimate of the current population of people with Down syndrome living in the USA in 2008, which they calculate to be 250,700 with a 90% uncertainty interval of 185,900-321,700.

This is substantially lower than the 400,000 figure that is often given as the number of Americans living with Down syndrome. It is not clear what this traditional figure is based on, but it seems to confuse birth prevalence with the population (of all ages) prevalence. Because the proportion of babies born with Down syndrome varies over time and because people with Down syndrome do not live as long as other people and longevity trends have been changing over time, birth prevalence and population prevalence are quite different. For example, a study using data from 10 population registries in the US reported a live birth prevalence rate of Down syndrome of 11.8 per 10,000 live births in 2003. If applicable nationally and assumed to be the population prevalence, and given a 2003 population of 290,107,933, then we could estimate a population of 342,327. Still not 400,000, though.

Furthermore, the same 2009 paper reports the population prevalence of Down syndrome among children and adolescents aged 0 to 19 years in 2002 in 10 US regions to be 10.3 per 10,000. Using this as the prevalence rate for the population of all ages in 2003 would give a lower estimate of 298,811. Of course, the prevalence rate Down syndrome among people aged over 19 years will actually be lower, and therefore this is most likely an overestimate.

It could be argued that recent birth and youthful population prevalence rates underestimate historic prevalence rates because of the availability of prenatal diagnosis and selective terminations since the 1970s. However, at the same time many more babies have been conceived as parents choose to have children later in life. Moreover, improved healthcare as markedly improved survival rates for children with Down syndrome over the past 30 years – particularly those with cardiac defects.

There is no national birth registry in the US, and no census data and few studies of the population of people with Down syndrome. So, how did the authors of the study arrive at their estimate for the US population of people with Down syndrome? Put simply, the authors (a) estimated the number of births and (b) estimated the ages at which those born died – and therefore those who were still alive.

The study authors estimated births using (a1) data on the maternal-age-specific chances of giving birth to a baby with Down syndrome combined with (a2) data on all births of babies and the ages of their mothers and (a3) an adjustment for the impact of prenatal diagnosis and subsequent selective terminations. The authors estimated age of death by looking at the average age of death of people with Down syndrome where recorded in death certificate data from 2006 and 2007.

The maternal-age-specific chances of giving birth to a baby with Down syndrome (a1) are known with reasonable certainty and large and reliable data sets on births are maintained (a2) in the US. We can therefore quite accurately calculate the number of babies who would be expected to be born in a given year in the absence of selective terminations. For example, using these methods it is possible to calculate around 350,000 babies would probably have been born in the US in the past 60 years in the absence of selective terminations.

Unfortunately, there is limited data on the impact of prenatal diagnosis policies and technologies since the 1970s in the US. The authors of this study use an adjustment factor based on data reported putting the ratio of live births to live births + terminations at 0.874. They apply this adjustment to their estimates of births in each year from 1980 to 2007.

There are some potential problems with this estimate of the impact of selective terminations on live births. Firstly, the authors assume that the ratio of live births to live births + terminations remained constant during this period. Two factors influence this ratio: the proportion of pregnancies diagnosed prenatally and the choices of expectant parents when receiving the diagnosis. Unfortunately, the paper the authors cite in support of the constancy of this ratio only looks at termination rates – in other words the rate at which expectant parents choose to terminate given a diagnosis. This averages at around 91% (following the decision to have an invasive diagnostic test) and, as far as we can tell, has not fluctuated much over the past 20 years. However, during this time, the availability of prenatal screening tests has changed substantially, with their widespread offer to women of all ages being relatively recent. In England and Wales (where we have a national registry), for example, the ratio of live births to live births + terminations went from 0.71 in 1989 to 0.40 in 2011.

Secondly, the number of terminations is not the same thing as the number of births prevented. This is because quite a high proportion of pregnancies with Down syndrome are lost. In other words, many of the pregnancies terminated would not have resulted in a live birth. For example, in England and Wales, the recent ratio of live births to live births + terminations of 0.40 suggests a live birth reduction rate of 60%. It is, in fact, closer to 50%.

Thirdly, the rate seems very low. The authors assume live births are 12.6% lower from 1980 to 2007 than those expected in the absence of selective terminations. I previously mentioned that a study using data from 10 population registries in the US reported a live birth prevalence rate of Down syndrome of 11.8 per 10,000 live births in 2003. The authors estimate that births in that year would have been around 7,000 in the absence of selective terminations. If correct, this would have been a live birth prevalence of 17.1 per 10,000. If this were the case, the rate of reduction of births resulting from selective terminations would have been 31.0% – not 12.6%. The live births at least for part of the period from 1980 to 2007 may therefore be overestimated.

It should be noted that estimates of population prevalence derived from births and survival estimates do not account for the effects of immigration and emigration. (Migration effects may also distort population samples.) There is (and has been) net immigration in the US and it is therefore possible that such estimates fail to account for immigrants with Down syndrome. However, it seems unlikely that there are (or has been) a high number of immigrants with Down syndrome, nor that the prevalence of people with Down syndrome among immigrants in general is disproportionately high. Indeed, the opposite may be more probable

In conclusion, this study makes it clear that the suggestion that there are 400,000 Americans with Down syndrome is not credible. It is most likely that the number is closer to 250,000 – perhaps as high as 300,000 – perhaps substantially lower than 250,000.

It’s not too late to register for the 2013 research forum

There are some interesting presentations in the line up for this year’s Down Syndrome Research Forum. It’s not too late to register.

The UK and European Down Syndrome Research Forum 2013 will be held at the University of Bristol on 17 and 18 September 2013. The programme is being finalised and will be published soon, but it is looking to be an interesting event with presentations touching on memory, autism, individual differences, bilingualism, inclusion and reading comprehension – among others.

It is not too late to register – see here for details.

Misunderstandings regarding reading development in children with Down syndrome

Kathy Cologon at Macquarie University tackles five ‘myths’ about reading development for children with Down syndrome in the Australian Journal of Teacher Education

  1. Receptive and Expressive Language – What a child with Down syndrome can understand can be measured by what that child can say.
  2. Phonological Awareness and Phonic Decoding Skills – Children with Down syndrome cannot develop phonological awareness and phonic decoding skills.
  3. ‘Reading Readiness’ or (Non)Linear Development – All children need to learn the skills for reading in a linear process wherein each skill is dependent on the previously learned skills.
  4. Reading Comprehension – Children with Down syndrome cannot understand what they are reading.