Misunderstandings regarding reading development in children with Down syndrome

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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

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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.

The costs of prenatal screening services in England

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In response to question from Fiona Bruce MP, the Department of Health has published estimates of the costs of prenatal screening in England.

The Chair of the UK Parliamentary Inquiry into Abortion on the Grounds of Disability, Fiona Bruce MP, recently tabled a question requesting the costs of prenatal screening for Down syndrome. In reply, the Department of Health provided estimated costs of the National Health Service Foetal Anomaly Screening Programme - which includes screening for Down syndrome. These offer a base, lower and upper scenarios at 2009/10 and 2010/11 prices for England:

Base case Lower Upper
2009-10 prices 2010-11 uplift 2009-10 prices 2010-11 uplift 2009-10 prices 2010-11 uplift
Estimates of birth used 671,058 650,000 700,000
Central coordination 1,895,735 2,000,000 1,895,735 2,000,000 1,895,735 2,000,000
Total screening strategy from the offer to the screening results 17,080,673 18,020,110 16,544,677 17,454,634 17,817,344 18,797,298
Invasive diagnostic procedure (CVS / amniocentesis) 7,802,120 8,231,237 7,557,287 7,972,938 8,138,617 8,586,241
Cost of healthy foetal loss 93,600 98,748 90,663 95,649 97,637 103,007
Cost of those T+ who terminate 486,739 513,510 471,461 497,391 507,732 535,657
Total cost of T21 screening population live births 983,759 1,037,866 952,889 1,005,298 1,026,188 1,082,628
Total screening pathway cost 28,342,626 29,901,470 27,512,712 29,025,911 29,483,253 31,104,831
Total cost, excluding continued pregnancies 27,358,867 28,863,604 26,559,823 28,020,613 28,457,065 30,022,203

In 2010/11, approximately 850 babies who would have been born with Down syndrome were not born as a consequence of the screening programme. I therefore estimate the cost of each live birth ‘prevented’ to be around £34,000.

Are more babies with Down syndrome born to younger mothers?

Although the chance of giving birth to a baby with Down syndrome begins to rise quite quickly for mothers aged over 30 years, in most countries it has traditionally been the case that more babies are born to younger than to older women. This was because, in general, many more babies were born to younger women than to older women. But, is this still the case?

This question arose a few weeks ago when reviewing a draft of an updated information booklet on Down syndrome published by Early Support: are more babies with Down syndrome born to mothers aged under 35 years than to mothers aged 35 years or over?

It is well established that the chance of giving birth to a baby with Down syndrome is higher among older women than it is among younger women. Since 1989, a national registry has recorded all diagnosed cases of Down syndrome (prenatal and postnatal) in England and Wales. This large dataset offers probably the best estimation of the chances of giving birth to a baby with Down syndrome for mothers of different ages. From around 30 years of age (at the time of birth) the chance increases markedly, rising from 1 in 1,339 at 25 years to 1 in 352 at 35 years and 1 in 35 at 45 years. This graph shows how many babies would be born with Down syndrome in the absence of prenatal screening and selective terminations to mothers of different ages (per 1,000 livebirths):

Estimated prevalence of babies with Down syndrome by age of mother at birth (per 1,000 livebirths)

Estimated prevalence of babies with Down syndrome by age of mother at birth (per 1,000 livebirths). Source: http://dx.doi.org/10.1136/jms.9.1.2

Clearly, of babies born to mothers aged 35 years or older, more will have Down syndrome than among babies born to mothers aged under 35 years. We might suppose, therefore, that more babies with Down syndrome are born to older mothers. In the past, this has not been true, because many more babies were born to younger mothers than to older mothers. However, the relative difference has narrowed over the past 20 years. As a paper published in Down Syndrome Research and Practice a few years ago pointed out, the percentage of all births in England and Wales to mothers aged 35 and over increased from 9% in 1989 to 19% in 2003. During this time, the proportion of children with Down syndrome born to mothers aged 35 and over rose from 24.2% to 50.9%.

So, what has happened since 2003? Here is the latest data -

Year Mothers aged <35 years Mothers aged ≥35 years Mothers age unknown
Live born Outcome
unknown		 Live born Outcome
unknown		 Live born Outcome
unknown
1989 536 0 172 8 22 0
1990 521 1 197 11 8 0
1991 505 2 205 7 15 0
1992 448 5 183 13 24 0
1993 430 1 159 7 23 0
1994 399 9 183 15 43 1
1995 348 5 192 18 28 2
1996 370 4 192 9 33 0
1997 382 5 233 14 38 0
1998 352 6 226 20 42 0
1999 318 10 221 17 52 2
2000 315 23 228 38 35 0
2001 254 17 214 62 94 2
2002 271 31 199 72 111 0
2003 258 18 268 48 85 4
2004 286 17 281 63 90 1
2005 298 36 308 98 127 6
2006 281 43 316 86 152 11
2007 288 38 336 72 79 5
2008 300 27 324 56 110 3
2009 292 28 352 43 126 1
2010 271 26 326 70 122 1

Assuming that the outcomes of pregnancies for which outcomes are unknown and for those for which maternal ages are unknown were similar to the known outcomes, then we can conclude that in 2009 and 2010 55% of babies with Down syndrome were born to ‘older’ mothers:

Proportion of babies born with Down syndrome in England and Wales born to mothers aged younger than 35 years and mothers aged 35 years or older, 1989-2010

Proportion of babies born with Down syndrome in England and Wales born to mothers aged <35 years and mothers aged ≥35 years, 1989-2010.  Source: National Down Syndrome Cytogenetic Register (NDSCR).

The trends are likely to be quite similar in other developed countries.

Minister responds to UK education guidelines

Last week, the All Party Parliamentary Group on Down Syndrome (APPGDS) presented a new report on good practice in education to Edward Timpson MP, Parliamentary Under Secretary of State (Children and Families) who is responsible for special educational needs and disability at the Department for Education.

The report summarises information about the specific learning needs of children with Down syndrome, sets out principles for effective education practice, and calls on government to:

  1. Recognise the specific developmental and educational needs of children and young people with Down syndrome as a unique group
  2. Ensure effective planning and monitoring for this population of children/ young people
  3. Develop the inspection framework so that the inspection process is informed by and checks against identified good practice with pupils with SEN, and specifically Down syndrome
  4. Promote and support syndrome-specific approaches tailored to the learning profile of children and young people with Down syndrome, and endorse the principles set out in this document
  5. Develop government led, centrally produced, evidence based guidance for practitioners on Down syndrome
  6. Protect the provision of specialist Down syndrome support services
  7. Recognise and meet the need for provision of additional resourcing

You can watch the Minister’s reply here and download the report here (PDF, 1.2MB).