Births and populations of people with Down syndrome

Over the past few years, I have been privileged to work with colleagues Gert de Graaf and Brian Skotko looking at the data on births and trends in populations of people with Down syndrome.

We have now published three papers together. The first looked at the births of babies with Down syndrome in the USA from 1900 to 2010. The second reported a similar analysis for the state of Massachusetts. The third, recently published online ahead of publication in Genetics in Medicine, estimated the population of people living with Down syndrome in the USA from 1950 to 2010. This work builds on the previous work of Gert and colleagues developing a model for estimating the population prevalence of Down syndrome.

We have produced a freely downloadable factsheet with some of the key figures from our papers.

Our findings include:

  • The live birth prevalence of Down syndrome in the US in most recent years (2006–2010) was 12.6 per 10,000, with around 5,300 births annually
  • During this period, an estimated 3,100 Down syndrome related elective pregnancy terminations were performed in the US each year
  • As of 2007, the estimated rate at which live births with Down syndrome were reduced in the US as a consequence of Down syndrome related elective pregnancy terminations was 30%
  • The number of people with Down syndrome living in the US grew from 49,923 in 1950 to 206,366 in 2010
  • The population of people with Down syndrome living in the US includes 138,019 non-Hispanic whites, 27,141 non-Hispanic blacks, 32,933 Hispanics, 6,747 Asians/Pacific Islanders, and 1,527 American Indians/American Natives
  • The population prevalence of Down syndrome in the US, as of 2010, was 6.7 per 10,000 inhabitants (or 1 in 1,499)
Live births of babies with Down syndrome in the USA, 1900-2010
The population of people living with Down syndrome in the USA, 1950-2010
The population of people living with Down syndrome in the USA, 2010, and the effects of immigration and selective terminations of pregnancies

We are hopeful this work will provide a baseline from which we can track the impact of new screening technologies and changing social attitudes on future populations of people with Down syndrome.

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…

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.

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.

UK Down syndrome research funding

In response to parliamentary question, the Department of Health has confirmed the (dire) current level of funding for research relating to Down syndrome.

In reply to a question tabled by Fiona Bruce MP, the Department of Health confirmed that current annual spending on Down syndrome research totals £1.76 million ($2.7 million):

“In 2012-13, the Department’s National Institute for Health Research (NIHR) spent £1.2 million on research relating to Down’s syndrome through research programmes and research training awards. Total spend by the NIHR on research relating to Down’s syndrome is higher than this because expenditure by the NIHR Clinical Research Network (CRN) on this topic cannot be disaggregated from total CRN expenditure.

“The Medical Research Council (MRC) is one of the main agencies through which the Government support medical and clinical research. It is an independent research funding body which receives its grant in aid from the Department for Business, Innovation and Skills. In 2012-13 the MRC spent £564,000 on research into Down’s syndrome.”

However, the NIHR funding is not directed towards improving the health and wellbeing of people living with Down syndrome – this is directed at a major project to “to improve the quality of NHS prenatal diagnostic services by evaluating early non-invasive prenatal diagnosis”. Most of MRC’s spending is on the study of a mouse bred to carry (much, but not all of) a human chromosome 21 in (many, but not all) of its cells. While of interest, this research offers no near-term improvements to health and medical care for people living with Down syndrome today. Yet there are many pressing clinical issues where more research could quite quickly improve the lives of people with Down syndrome – sleep, hearing and speech and language therapy to name just three.

This compares poorly with the $20 million spent annually by the US National Institutes of Health on Down syndrome research. The US figures do not include expenditure on research into prenatal testing. Therefore, compared on a population basis, the UK is spending around £14 ($22) on Down syndrome medical research per person with Down syndrome annually, whereas the US is spending around $80 per person (there are approximately 40,000 people with Down syndrome living in the UK and 250,000 living in the US).

Furthermore, the US government also funds research aiming to improve educational outcomes for children with Down syndrome, and the UK government currently funds none.

This is a sorry state of affairs that I hope the All Party Parliamentary Group on Down Syndrome will be tackling in the coming months.