New and old directions
Frank Buckley
Improved social and educational opportunities and access to informed healthcare are helping today’s generations
of people with Down syndrome to achieve more and live longer. This progress is bringing new challenges. Scientific
research is steadily improving our understanding of the condition. Future improvements in the lives of people with
Down syndrome will require multidisciplinary efforts and more applied or translational research with practical
outcomes. In this context, this journal has reviewed the roles it plays in communicating research to specialists and
non-specialists, families, practitioners and researchers alike.
Buckley F. New and old directions. Down Syndrome Research and Practice. 2007;12(1);1-4.
doi:10.3104/editorials.2034
Life has changed for many people with Down syndrome in many places around the world.
Improved social and educational opportunities and access to informed healthcare
are helping current generations of people with Down syndrome to achieve more and
live longer. The families, clinicians, researchers and associations that have campaigned
and worked hard to deliver improved opportunities over the past 30 years deserve
much credit for this. And the thousands of people with Down syndrome who (when given
the chance) have repeatedly risen to new challenges and shown themselves to be more
able than previously thought possible, deserve the utmost respect, admiration and
continued support.
Research aimed at improving our understanding of Down syndrome has progressed alongside
these advances (and often supported them). Investigations of language development,
reading abilities, numeracy, speech, hearing, memory and social development inform
modern teaching practice and early intervention for young people with Down syndrome[1-4]. Clinical studies of the health issues more
frequently associated with Down syndrome inform modern healthcare guidelines[5,6]. Meanwhile, our understanding of the biology of Down
syndrome is improving, helped by advances in the fields of genetics, molecular biology
and neuroscience[7].
Modern healthcare guidelines and equal access to treatment are helping life expectancy
to approach 60 years in some places. Meanwhile, in many countries, the numbers of
children born with Down syndrome each year is remaining steady, despite the increased
availability of prenatal testing. Combined, these factors are leading to more people
alive with Down syndrome[8]. Meeting their
needs is an important social and political issue.
As with many aspects of human life, the picture is not the same throughout the world.
Despite improvements in some countries, life for many people with Down syndrome
in many countries is very difficult and exclusion, deprivation and discrimination
are all too common. The recently adopted UN Convention on The Rights of Persons
with Disabilities is a step in the right direction
at governmental level and community efforts in some places are leading to positive
change, but much work remains to be done.
Nor is progress in generally progressive communities uniform. Educational practice
and opportunity often varies between providers purportedly operating within a common
legal and educational system. Obstructive and disinterested institutional disregard
for the rights and needs of young people with Down syndrome may be on the decline,
but it is still too common and remains a cause of lowered educational outcomes for
young people with Down syndrome and anxiety and distress for their families. Even
for those not tackling institutional discrimination, many challenges remain. The
skills, expertise and resources necessary to properly support the education of people
with disabilities are often in short supply in today's education systems. Indeed,
our understanding of just what constitutes a first-rate educational experience for
young people with Down syndrome is by no means satisfactory.
Reappraising our roles
Against this background of widespread (though by no means universal) progress for
people with Down syndrome, the emerging challenges of growing and ageing populations,
the practical challenges facing those tasked with providing effective developmental
and educational support and healthcare, and continued advances in many areas of
scientific endeavour relevant to people with Down syndrome, this journal has reappraised
how it fulfils the roles it plays in supporting progress.
First published in 1993, Down Syndrome Research and Practice has always
sought "to bring research to parents and practitioners... attempting to draw
out the practical implications of research"[9].
At first predominantly focused on language and cognitive development, our subject
matter has broadened over the past 14 years. At the same time, we have probably
not worked hard enough to make this broader range of content more accessible to
the non-specialist. Since 1998, this journal has had a sister publication – Down
Syndrome News and Update – that has focused more on providing overviews
of research for a broad readership and presenting practice-focused case studies
and reviews. This has separated information about practice from the research content
of this journal. We believe that research scientists need to be in touch with practice
and the everyday challenges facing people with Down syndrome and their families
just as much as practitioners need to be informed of current research evidence to
support their work. We are therefore discontinuing the publication of Down Syndrome
News and Update and reabsorbing the best practice content back into Down Syndrome
Research and Practice.
New content
To successfully blend original scientific reports (that can be quite technical to
the non-specialist) with examples of good practice, news and reviews in ways that
meet the needs of non-specialists and specialists from a variety of scientific and
non-scientific backgrounds is a challenge. To help achieve this, we have adopted
a number of new sections within the journal to present information in different
ways. Original reports of scientific research studies will continue to form the
foundation of our scientific content. Where these present group studies, they will
be grouped as Reports and where they involve one or a few individuals they
will be presented as Case Studies. Accompanying original study reports
will be Reviews,
Opinions,
Hypotheses and
Perspectives
– each contributing in different ways to the scientific literature. Contributions
published in each of these categories of original scientific content will continue
to be subject to the peer-review process. (Authors should refer to the revised publishing
policies and guidelines at www.downsed.org/research-practice/authors).
To report and summarise international news, research advances and progress in practice,
we are also introducing News,
Research Highlights,
Updates,
Practice,
Essays, Resources and Guidelines sections.
Research Highlights will offer brief reports of notable recent research
findings published elsewhere. Updates will offer more detailed reports
of progress in research and practice, either published in this journal or elsewhere,
presented for a non-specialist readership.
Practice reports present the
observations of families, carers and practitioners and may examine any aspect of
development, health or education for one or more individual.
Essays offer
personal reflections on topics of interest to our wider audiences, and will include
the reflections of people with Down syndrome. The
Resources section will
include reviews of books, materials and other resources of interest to families,
practitioners and researchers. Guidelines will include recommendations
for good practice. These will usually be the product of appropriate community groups,
organisations or committees – for example, the Down syndrome medical interest groups.
Not every section will be present in every issue, though every issue will carry
news, research highlights, updates, practice and scientific papers. We have colour-coded
the sections to assist readers in finding particular content. As well as better
defined sections, we are also introducing more extensive use of glossaries and diagrams
to improve the accessibility of all of the content of the journal. We are also adopting
full colour production throughout.
Online improvements
Print is no longer the primary publication medium for any journal and we are making
substantial changes to improve the quality, availability and functionality of our
online editions. Down Syndrome Research and Practice forms a substantial
and important part of the new Down Syndrome Online web site. From the publication
of this issue onwards, we will publish online simultaneous with or in advance of
print publication. We are also improving the indexing and linking of the journal
online. We have joined CrossRef (www.crossref.org) and all of our content will be
assigned Digital Object Identifiers (DOIs) and registered with CrossRef to assist
the cross-referencing of cited papers and the easy location of online resources.
We are also accelerating indexing in MEDLINE/PubMed with the electronic submission
of bibliographic information immediately on publication.
Open Access
This journal supports improvements in the lives of people with Down syndrome by
communicating new scientific knowledge and evidence-based practice to the widest
readership. To maximise our reach, we are adopting Open Access publishing policies.
In short, these will ensure that all of our content is freely accessible online
and can be freely reproduced for non-commercial purposes (for more detail and precise
legal terms, please refer to
www.down-syndrome.org/open-access).
We will continue to produce and offer subscriptions to printed editions. We hope
that those who value the added convenience and benefits of printed copies will continue
to subscribe. We also hope that those who utilise and value the online editions
will occasionally pledge a donation to support ongoing publication. The Open Access
publishing model offers alternative revenue streams to subscriptions, but we still
expect that this journal will continue to require substantial charitable subsidy.
Multidisciplinary coverage
Over the past 20 years, scientific and technical advances have opened whole new
areas of research of relevance to people with Down syndrome. Down syndrome begins
with the presence of an additional chromosome 21 (or in a few cases, a part of it)
at the time of conception. From this point forward, what we see as Down syndrome
is the result of the complex interactions of genes and environment. Understanding
the mechanisms set in motion by the additional copies of chromosome 21 will illuminate
how some things work differently in people with Down syndrome. Improved understanding
of the genetics, molecular biology and neuroscience involved in Down syndrome will
inform the characterisation of the particular issues associated with the condition.
This knowledge will contribute to the further improvement of developmental and educational
interventions. Over time, it may lead to useful pharmacological or gene therapies
– indeed, a recent study in mice offers hints of possibilities in one of these areas.
Unravelling the complexity of human development requires explanation at many levels
(from the cellular mechanisms of genes to the psychological characteristics of behavioural
traits). Inevitably, these explanations will become more entwined. The importance
of increasingly interdisciplinary approaches to behavioural research is often noted.
This journal's overriding aim remains to keep a diverse readership informed of current
progress in our understanding of all aspects of Down syndrome. We will increasingly
seek to highlight and present research from across the full spectrum of scientific
research relevant to our understanding of Down syndrome at all levels.
From the laboratory to the classroom and the clinic
As fascinating and exciting as contemporary behavioural science is, proof of advances
for people with Down syndrome is found in classrooms, clinics and everyday life.
It is here that the work of researchers, practitioners and families comes together
to make a difference.
There are many aspects of teaching practice, speech and language therapy, clinical
care and family life that are fundamental to the developmental progress, health
and quality of life of people with Down syndrome. Yet, practical evaluations of
interventions under 'real life' conditions are scarce. Whilst such study designs
may not be ideal for examining some theoretical issues, they can be of immense practical
importance. Determining what does and does not work in today's classrooms, with
real teaching staff and current resources is critical if we are to advance teaching
practice.
This journal will welcome, encourage and highlight such studies. By presenting accounts
of practice from practitioners and families, we also hope to interest researchers
in pursuing applied or translational research with practical outcomes.
Developmental complexity
Many aspects of human behaviour are substantially heritable (that is, many differences
are substantially due to genetic factors) and there is no reason to suppose that
this is not the case for people with Down syndrome. No doubt some of the wide variation
in outcomes for people with Down syndrome is explained by individual genotypes (including
individual third copies of chromosome 21).
However, this does not mean that environmental differences are of little consequence
for human development. Indeed the recent history of people with Down syndrome offers
a striking example of the consequences of deprived environments and the effects
of reducing that deprivation. It is clear that differing educational and developmental
support, peer groups and social circumstances influence outcomes for people with
Down syndrome (as for all of us).
We are yet to determine what people with Down syndrome are able to achieve, given
the most effective support. The achievements of many young people with Down syndrome
today would have been exceptional relative to those seen 40 years ago. Whilst the
gains from escaping institutions have now been realised for many, the benefits to
be achieved from properly resourced and supportive inclusive education, and from
accepting and supportive communities, are still incomplete. How exceptional today's
achievements will seem in another 40 years is hard to tell. There clearly are limits (as there are for all of us) and on many measures
it seems likely that these limits will be in the lower range of typical human achievement,
but it is still not clear precisely what they will be.
This journal will remain focused on improving our understanding of development and
the evaluation of developmental and educational interventions. To this extent, we
are reaffirming the directions originally set out in our very first issue –
"We think that we live in exciting times and that the future for many children
and adults with Down syndrome is brighter than ever before. Research is uncovering
many of the reasons for their delayed development and practitioners are using these
insights to develop effective teaching and remedial strategies. At the same time
social attitudes are changing and our children are being accepted and included in
mainstream society. These changes will bring progress but not without throwing up
new problems to solve along the way. We hope that this journal will act as a forum
to inform on progress and to discuss issues which need to be solved."[9]
Frank Buckley
is at Down Syndrome Education
International, Portsmouth, Hampshire, UK.
References
- Buckley SJ. Living with Down syndrome. Portsmouth,
UK: The Down Syndrome Educational Trust; 2000. Available from:
http://www.down-syndrome.org/information/development/overview/
- Buckley SJ, Sacks B. An overview of the development
of infants with Down syndrome (0-5 years). Portsmouth, UK: Down Syndrome Education
International; 2001. Available from:
http://www.down-syndrome.org/information/development/early/
- Buckley SJ, Sacks B. An overview of the development
of children with Down syndrome (5-11 years). Portsmouth, UK: Down Syndrome
Education International; 2001. Available from:
http://www.down-syndrome.org/information/development/childhood/
- Buckley SJ, Sacks B. An overview of the development
of teenagers with Down syndrome (11-16 years). Portsmouth, UK: Down Syndrome
Education International; 2002. Available from:
http://www.down-syndrome.org/information/development/adolescent/
- American Academy of Pediatrics Committee on Genetics. Health Supervision
for Children With Down Syndrome. Pediatrics. 2001;107(2),442-449. Available
from:
http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442
- Down's Syndrome Medical Interest Group. Guidelines for Essential
Medical Surveillance. 2006. Available from: http://www.dsmig.org.uk/publications/guidelines.html
- Patterson D, Costa A. Down syndrome and genetics – a
case of linked histories. Nature Reviews Genetics. 2005;6;137-147.
- Bittles A H, Bower C, Hussain, R, Glasson, E J. The four
ages of Down syndrome. European Journal of Public Health. 2007;17(2),221-225.
- Buckley SJ. Editorial. Down Syndrome Research and
Practice. 1993;1(1),1-2.