Specificity in Down syndrome
Sue Buckley
Do children and adults with Down syndrome have a specific developmental
profile of strengths, weaknesses and needs on which early intervention,
education and healthcare should be based if they are to be effective?
Buckley SJ. Specificity in Down syndrome. Down Syndrome News and Update. 2005;4(3);81-86.
doi:10.3104/essays.336
Do children and adults with Down syndrome have a specific developmental
profile of strengths, weaknesses and needs on which early intervention,
education and healthcare should be based if they are to be effective? This was
the question addressed at a conference at the end of February, 2005 in Mallorca,
Spain. Two hundred and sixty delegates and speakers from 17 countries attended a
very worthwhile meeting to address the question of specificity in Down syndrome.
The conference was organised by Asnimo (the pioneering organisation for the
support of children and adults with Down syndrome established on Mallorca 28
years ago), the University of the Balearic Islands and EDSA (European Down
Syndrome Association) with the support of DSI (Down Syndrome International).
The conference opened with a presentation by Juan Perera, of the University of
the Balearic Islands and the founder of Asnimo, who stressed the importance of
the focus of the meeting – specificity in Down syndrome. The study of
specificity addresses the questions:–
- In what precise ways does Down syndrome influence the development of children
and adults with Down syndrome?
- Is their profile of development different in some ways from that of typically
developing children?
- Is their profile of development different from that of children with
developmental delays that have other causes (not Down syndrome)?
- Should education and interventions be adapted to take account of this profile
(rather than being the same as those offered to other children with learning
difficulties)?
In his presentation, Juan stressed the importance of knowing the answers to
these questions in order to effectively address the healthcare, early
intervention, educational and social needs of individuals with Down syndrome.
The keynote speakers all addressed the issue of specificity in their
presentations.
In this report of the conference, I will summarise the main points from the
presentations and their conclusions with regard to specificity and then add some
conclusions from our own work – as this is a very important issue. It gets to
the heart of understanding exactly how the extra chromosome does effect all
aspects of development and this has to be the starting point for developing the
most effective ways to support individuals with Down syndrome and their
families.
I have summarised the presentations under three headings - as they relate to:-
- biological functioning – physical and genetic effects
- psychological functioning – learning and developing and
- the social or interpersonal issues – specifically the needs of families.
Biological specificity
Several speakers addressed research into the physical development of individuals
with Down syndrome, at the genetic, pathological, neuropsychological and
healthcare levels.
Pathology
Krystyna Wisniewski, of the Institute for Basic Research in Developmental
Disabilities, New York, USA, described what is known about brain structures at
the cellular and structural level, and the new approaches available to
laboratories that may give more information about the biochemistry and function
of the brain.
Genetics
David Patterson, of the University of Denver, USA, looked at the information on
ageing, linking clinical findings on the higher incidence of ageing conditions
for individuals with Down syndrome with the research into the genetic influences
on this. David explained the value and potential of the use of mouse models for
trisomy 21 (mice bred to be trisomic) for researching what may be causing
earlier ageing and also for evaluating possible treatments.
Neuropsychology
Another paper, from Lynn Nadel of the University of Arizona, USA, addressed
these issues from the neuropsychological level. Lynn was unable to attend and
his paper was presented by David Patterson. This paper described studies of
learning, memory and spatial abilities in both children and adults with Down
syndrome and in trisomic mice – and the possible links between the pattern of
these abilities and areas of the brain such as the hippocampus, cerebellum and
prefrontal-cortex, known to be structurally affected by the extra chromosome 21
in humans.
Progress
Research into genetics and into brain function at every level in typically
developing individuals is progressing very rapidly, as we have more new methods
to study typical brain function which are leading to greater understanding of
how the brain works. This means that, as we know more about normal function, by
comparison, we are able to discover more and more about the subtle effects of
the extra chromosome 21 on brain function.
The research into the effects of Down syndrome on the way the brain and body
functions being conducted by geneticists, biochemists, pathologists and their
many colleagues in associated professions is rapidly adding to our understanding
and may eventually lead to some therapeutic approaches. However, while there are
many differences observed and documented in brain structure and cellular
function when the extra chromosome is present, it is not possible at present to
draw precise conclusions about the links between these differences and
development.
Problems with interpretation
Interpretation of the differences reported is difficult as the structure and
functions of the brain develop rapidly from birth to adult life – they are not
fixed by genes at birth in any simple way. For example, as any child learns to
walk and talk the areas of the brain associated with these activities show very
rapid change and development. Input, activity and learning influence brain
development, therefore differences in the structure and function of the brain in
a child or an adult with Down syndrome may reflect the lack of development of
particular skills as well as reflecting the effect of the extra chromosome.
The future
New non-invasive brain imaging methods such as functional MRI (magnetic
resonance imaging) and MEG (Magnetoencephalography) which allow scientists to
study the brain in action may allow these issues to be explored more effectively
as changes in brain function may be able to be studied over time in the same
individuals. Some MEG studies of brain function in individuals with Down
syndrome are, in fact starting at the Down Syndrome Research Foundation in
Vancouver, Canada, and one of their research collaborators, Daniel Weeks of
Simon Fraser University, described some preliminary results in an afternoon
session at the conference.
Healthcare
The final presentation on the physical effects of Down syndrome was presented by
Alberto Rasore-Quartino, from Genoa, Italy. He described the health and medical
issues associated with Down syndrome – highlighting those that occur with a
greater incidence in children and adults with Down syndrome, and some that occur
less often. Almost all medical and health conditions are treated in the same way
for a person with Down syndrome but knowing about the greater risks of some
illnesses helps parents and physicians to be spot them quickly or to screen for
them. Many countries now have this information available as published
guidelines, which are regularly updated – see resources at the end of the
article.[1]
Psychological specificity
The majority of the other keynote presenters discussed studies of psychological
or behavioural development including memory, speech and language, cognitive and
social development.
Memory
The first of these was a paper on memory research presented by Darlynne Devenny,
of the Institute for Basic Research in Developmental Disabilities, New York,
USA. Darlynne highlighted the central importance of memory for all aspects of
what we learn and what we do each day. She explained that research has
identified different types of human memory and the first division is between
implicit and explicit memory systems.
Implicit memory is relatively unintentional and automatic – implicit memories
are acquired without conscious effort – such as an infant learning grammar in a
first language.
Explicit memory is intentional and effortful – such as learning history facts in
school or the rules of the Highway code to pass a driving test. Explicit memory
can be further subdivided into Working Memory – the short term memory system
used to hold information coming into the brain while processing and
understanding it, and used for mental reasoning tasks, and Episodic memory – the
system which stores memories of life events.
Darlynne went on to summarise what is known about the memory strengths and
weaknesses usually experienced by individuals with Down syndrome. More is known
about the Working Memory system in individuals with Down syndrome than the other
types of memory and we know that within this system, visual short-term memory is
a strength and verbal short-term memory is a weakness. This will mean that
learning to talk and processing spoken information is more difficult for
children with Down syndrome.
Longer term, Implicit memory seems to be a relative strength, though initial
learning and consolidation of skills may take longer.
In Episodic memory, individuals with Down syndrome seem to have some weaknesses
in spatial memory, though the ability of many to find their way around their
schools and neighbourhoods suggest that not all aspects of spatial memory are
equally affected. Memory for autobiographical events may be a weakness as
Darlynne demonstrated that individuals with Down syndrome may recall less detail
and have more difficulty retelling the details when remembering an event such as
a visit.
Implications
She ended her presentation with some pointers for interventions to improve
memory skills such as emphasising phonological (speech sound) awareness from
infancy, using multi-sensory input for teaching to use visual memory strengths
to support verbal memory weakness and building in much practice and repetition.
The specific difficulties in working memory have been researched in some detail
and readers can find many papers and practical intervention advice such as
Darlynne recommended on the charity's information website[2] and in
publications[3] – see resource list at the end of the article.
Speech and language
Jean Rondal, of the University of Liège in Belgium, presented a detailed
description of the speech and language development of children and adults with
Down syndrome. He pointed out that most have strengths in developing vocabulary
and in being able to communicate their meaning as they get older, but weaknesses
in developing grammar and intelligible speech. He explained the way in which
this pattern was different from that seen in individuals with learning
disabilities from other genetic causes.
Implications
He also identified the implications of this profile for interventions – which
should focus in particular on the need to develop articulation and phonology for
clear speech and on developing the use of grammar. However, it is also important
to remember when we discuss relative strengths and weaknesses that early
vocabulary is learned more slowly than it should be and that all aspects of
learning to talk will benefit from targeted games and activities. Jean recently
edited a book on speech and language intervention for individuals with Down
syndrome which contains research reviews, information and advice on intervention
for all aspects, though aimed at professionals rather than parents.[4]
Comparison of cognition, language and social progress
Robert Hodapp, of Vanderbilt University, Tennessee, explored the findings more
broadly on intellectual functioning, language and social development.
A specific profile
He drew attention to a specific profile of strengths and weaknesses at this
level. He highlighted the frequently reported fact that expressive language
usually lags behind non-verbal mental abilities in children and teenagers with
Down syndrome, that visual memory is a strength relative to verbal memory and
that sociability is usually a strength. This general profile was returned to by
two later keynote presenters (Donna Spiker and Deborah Fidler).
Robert and some other presenters considered the ways in which the profiles of
children with other genetic conditions such as Williams, Prader Willi and
Fragile-X syndromes are similar to the profile associated with Down syndrome.
This is of research interest but is not discussed in detail here as it is not
directly relevant to understanding how to educate and support children with Down
syndrome.
'Fragile' development
Robert drew attention to the fact that the developmental progress of children
with Down syndrome might be thought of as 'fragile' as they seem to need more
practice to consolidate their learning and sometimes seem to 'lose' skills that
they seemed to have learned. While the majority of children with Down syndrome
make steady, if slow progress, the rate at which they are learning slows over
time and falls behind that of other typically developing children. This is why
studies show IQ scores often drop over time as they are based on comparisons
with the rate of learning of other children. Children with Down syndrome learn
and progress but not fast enough to maintain the same IQ scores from infancy
onwards.
Learning styles
Some clues to why this happens may emerge from research identifying learning
styles, which could slow cognitive development. For example, studies by Jennifer
Wishart at Edinburgh University[5] suggest that toddlers with Down syndrome may
'misuse' their social skills to distract parents and teachers when they are
faced with learning tasks that they find difficult. They do not then complete
the tasks and learn how to solve them, they play social games instead.
Early evidence
This important theme was taken up and explored further by Deborah Fidler of
Colorado State University. She reported that her own research shows that this
characteristic profile, with social development going ahead of language and
cognitive development, can be seen in toddlers as well as older children and she
argued that it might be possible to develop intervention strategies to stop this
pattern and to prevent cognitive development falling behind. Deborah showed
clips of videotape which clearly illustrated toddlers with Down syndrome
avoiding tasks such as finding shapes in a puzzle box by playing social games in
a way that other mental-age matched toddlers just did not do.
Implications
Deborah suggested that research indicates that early problem solving or
'strategic thinking' seen when infants look for a hidden toy or pull a string to
reach a toy is delayed for infants with Down syndrome – leading to the task
avoidance social games that they often develop. She has just begun to see if
training studies which focus on teaching the toddlers (at 25 to 35 months) to
solve the cognitive tasks will accelerate their progress and prevent the
counterproductive social games from developing. This is exciting work, and
references to Deborah's studies are at the end of this article.[6] Deborah began
her research career with Robert Hodapp and they are both coming to the UK to
take part in the conference on Early Education and School Education which is
being held in Portsmouth in September this year – see details on page 101.
Early intervention
Donna Spiker, from the Early Childhood Programs Centre for Education in
California,[7] continued to draw on the research into specific developmental
strengths and weaknesses to outline an evidence-based approach to early
intervention for infants and preschoolers with Down syndrome. Donna is well
known for her work in early intervention beginning with work with children with
Down syndrome more than 30 years ago in Minnesota, USA with another pioneer who
did much to raise expectations and improve education, John Rynders.
Clear goals
Donna identified that the goals of early intervention need to be clearly defined
and broad – specifically to:-
- lay the foundations for life-long learning and optimise children's progress
- to enable children to participate fully in family, school and community life
- to promote quality of life for families
Evidence based
She stressed the need to base actual early intervention activities and
programmes on the research into the profile of strengths and needs of children
with Down syndrome but equally to remember the variability of the children.
While most children with Down syndrome show the typical patterns, the degree to
which they show them and the rate at which individual children progress varies
widely.
Donna reminded us that children with Down syndrome vary widely in:-
- rate of development
- levels of achievements
- health status
- behaviour and temperament
and that families are also all different.
The message is – start with a knowledge of the research and the expected profile
and then adapt the recommended approaches to the needs of the particular
individual and the expectations and preferences of his or her family.
Five domains
Donna proposed that we plan our early intervention programmes with the intention
of preparing children for school readiness and consider the following framework
of five domains:-
- health and physical (including motor) development
- cognition and general knowledge
- communication development
- emotional well-being and social competence
- approaches to learning
Under each of these headings, she highlighted particular issues that may need to
be considered for children with Down syndrome.
Health
For example, under health, she stressed the importance of recognising that
serious heart conditions or early significant health problems may affect the
babies' energy to explore and slow their developmental progress (though they may
well catch up later) and may increase parental anxiety. She also reminded the
audience of the need to address the effects of 'glue ear' on learning language
and stressed the need for more research into the effects of sleep disturbance on
development.
Visual strengths
When considering strategies to promote cognitive development, Donna reminded
delegates of the profile of strengths in visual memory and weaknesses in verbal
memory, therefore the need to use visual cues for teaching whenever possible
including signing and gestures, picture, photos, print and the computer.
Play and cognition
She also mentioned the research already described which shows that children with
Down syndrome may be less persistent in mastering new tasks and exploring their
toys – and the need to build in practice to consolidate learning. Parents and
carers need to think of imaginative and fun ways to show children how to solve
tasks and develop games to encourage practice.
Parents and children
Donna drew attention to the way in which all interactions between parents and
infants are influenced by how the infant behaves – and a number of studies
indicate that parents of babies with Down syndrome do adapt to their children –
often discovering that they have to be a little more active in stimulating
responses and directing their attention and learning. We do not know enough
about the way some of these patterns develop and whether they all help or hinder
children's progress over time but we do need to think about this and to do
further research.
When considering strategies to develop communication and spoken language, Donna
identified some recent studies which indicate the need to enable parents to
develop sensitive and effective communication strategies throughout their daily
communication with their children[8] and to build speech and language activities
into child-centred toy play and motor games. She also emphasised the benefits of
using signs and gestures, and the importance of following the child's lead
whenever possible.
Temperaments and behaviour
Under her final heading, she reminded delegates of the importance of adapting to
children's individual temperaments but also the need to encourage behaviour
control and socially acceptable behaviour, pointing out that difficult behaviour
will interfere with learning and progress and increase parental stress. She then
went on to explore briefly the role of early intervention programmes in
providing support for parents and families, not just focusing on the child's
progress.
Family adaptation
The needs of families was the topic for another keynote presented by Laura Nota
and Salvatore Soresi of the University of Padua in Italy. They reviewed the
research into the effects of raising a child with Down syndrome on the family,
highlighting findings that indicate that these families experience less stress
than those raising children with autism or with other types of learning
disabilities and that most cope well.
Why less stress?
There may be a number of reasons for this, including early diagnosis, the
availability of early support from services and from parent groups, the sociable
nature of children with Down syndrome and fewer behaviour problems. These
findings do not suggest that parenting a child with Down syndrome is not
demanding and, at times, stressful but that the needs of families may vary
depending on the diagnoses of their children's disabilities – another indication
of specificity.
Over the lifespan
The presenters identified that the needs of families are different at different
stages of children's lives and that services should recognise this. They
identified that breaking the news at the time of diagnosis is still often not
done well – either insensitively or in an ill-informed manner. Too many
physicians still have outdated knowledge and negative attitudes. They also
stressed that each stage brings its own challenges, starting school, reaching
adolescence, leaving school and in too may countries real social inclusion and
friendships, opportunities for employment, meaningful day-time activity and the
chance to live independently of the family are still not available for most
adults with Down syndrome. Parent support needs at each stage were identified.
Parent training
It was also suggested that a parent training programme could be helpful in the
early years to give parents the knowledge, skills and strategies to face the
challenges of raising a child with Down syndrome and promoting their
development, the need to negotiate with professionals for services and the need
to take care of themselves and their family relationships. The presenters have
developed such a programme for parents in Italy.
In conclusion
This summary does not do justice to the quality and detail of the presentations,
but hopefully it does give the reader and idea of the key points. There was
general agreement that children with Down syndrome do show a specific
developmental profile – strengths in social understanding and as visual learners
and more difficulties with motor progress, speech and language, and verbal
short-term memory. This can be summed having strengths as visual learners and
more difficulty in learning from listening. A number of other messages –
learning styles, using social strengths to avoid learning, needing more practice
to really consolidate learning – also came through.
Is it important that we know this and adapt our early interventions and
educational approaches to take account of this profile? Some observers of early
intervention programmes were putting this view forward many years ago –
suggesting that we would not see benefits for our children if we did not adapt
teaching approaches. Each year we learn more in detail about these issues but I
would argue that we do have evidence of the benefits of education which takes
account of this profile. One example would be the data that we have collected at
Down Syndrome Education International on the outcomes for teenagers in schools in
1999/2000. The teenagers who show significant gains were educated in mainstream
classrooms – their education was informed by our knowledge of verbal memory
difficulties and being visual learners. Reading played a big part in their
teaching programmes – adapted to support their speech and language learning.
This study can be found in full at
http://www.down-syndrome.info/library/periodicals/dsnu/02/2.
However, I still think that we have a long way to go in ensuring that all those
working in healthcare, in early intervention and in our schools are aware of how
much we know about the specific needs of children and adults with Down syndrome.
Early intervention programmes and nursery staff still need access to good
materials and training to ensure they do understand the needs of our children.
Mainstream and special education teachers also need access to training and
information – in our experience in the UK, mainstream teachers are often better
informed than special school teachers. Special school teachers often see
children with Down syndrome as like the other slower learners that they work
with and this is often not the case.
The exciting messages from the conference for me were that we are becoming
better informed in more detail about the early effects of this profile. The work
that Deborah Fidler is doing with toddlers is potentially very important. She is
looking at the stage at which we begin to see cognitive skills dropping behind
social skills by the second year of life and evaluating practical ways of
working with toddlers to compensate by teaching them to learn to solve cognitive
tasks – and teaching those around them to not be drawn into social games during
these sessions. We will watch this work closely.
Resources
1. Healthcare guidelines:
- Marder, E. and Dennis, J. (1997). Medical management of children with Down's
syndrome. Current Paediatrics, 7, 1-7.
- Cohen, W.I. (1998). In Hassold, T.J. and Patterson, D. Down Syndrome: A
Promising Future Together. Wiley-Liss.
- Healthcare Guidelines for People with Down Syndrome. EDSA essentials
(see www.asnimo.com)
2. http://www.down-syndrome.org/
3. Buckley, S. and Bird, G. (2001). Memory Development for Individuals with Down
Syndrome. Down Syndrome Education International, Portsmouth, UK. [Open
Access Full Text
]
4. Rondal, J. and Buckley, S. (Eds.). (2004). Speech and Language Intervention
in Down Syndrome. Whurr Publishers Ltd.
5. Wishart, J. (1996). Motivation and Learning Styles in Young Children with
Down Syndrome. http://www.down-syndrome.info/library/periodicals/dsrp/07/2/047
6. Fidler, D.J. (2005). The Emerging Down Syndrome Behavioral Phenotype in Early
Childhood: Implications for Practice. Infants and Young Children, 18, (2),
86-103.
- Fidler, D.J., Hepburn, S. and Rogers, S. (in press). Early Learning and Adaptive
Behavior in Toddlers with Down Syndrome: Evidence for an Emerging Behavioral
Phenotype? Down Syndrome Research and Practice. [Open
Access Full Text
]
- Fidler, D.J., Philofsky. A., Hepburn, S.L. and Rogers, S.J. (in press).
Nonverbal Requesting and Problem Solving in Young Children with Down Syndrome.
American Journal on Mental Retardation.
7. http://www.the-eco-center.org/
8. Moore, D.G., Oates, J.M., Hobson, R.P. and Goodwin, J. (2002). Cognitive and
Social Factors in the Development of Infants with Down Syndrome. Down Syndrome
Research and Practice, 8(2), 43-52. [Open
Access Full Text
]
- Yoder, P.J. and Warren, S.F. (2004). Early Predictors of Language in Children
with and without Down Syndrome. American Journal on Mental Retardation, 109(4),
285-300.
Readers might like to note that the information and advice provided in all
the Down Syndrome Issues and Information Development and Education series is
based on the view that we need to know what specific effects Down syndrome has
on children's development in order to develop effective interventions and
educational programmes. In particular, the Overview books on each topic review
this research as a starting point – and the practical books are based on
principles arrived at from reviewing the evidence. More information on these
materials can be found on the charity websites at
www.down-syndrome.org and
http://shop.downsed.org/