Centre for Brain and Cognitive Development
Department of Psychological Sciences,
School of Sciences, Birkbeck, University of London
32 Torrington Square, London WC1E 7JL, United Kingdom
• Email: a.karmiloff-smith@bbk.ac.uk
February, 2013
Dear Parent,
I am delighted to learn that you might be interested in having your baby or toddler who has
Down’s syndrome take part in our new study.
The study will begin in January 2013, and we will start bringing in babies and toddlers for
participation some time from March 2013 onwards. The study will last some 4 and half years
in all. We will first need to go through NHS Ethics Committees, our financial committee and
various other bodies such as our funder, the Wellcome Trust, before we can actually get going.
Too much (necessary) red tape when we are so excited to begin! We will be contacting you in
the spring to organise a visit to our Centre on a day and time that is convenient for you. We
will reimburse all of your travel costs and, if you live far away, we will put you up in a London
hotel overnight at our expense. My postdoctoral Research Fellow, Dr. Esha Massand, will be
contacting you in the spring to organise this.
What are the aims of this study? As you probably know, individuals with Down’s syndrome
have a higher risk of developing Alzheimer’s disease in adulthood than do people in the general
population. One reason for this is that the APP gene that contributes to the plaques and tangles
typical of mature brains that develop Alzheimer’s disease lies on chromosome 21, and thus
individuals with Down’s syndrome over-express this gene due to the three copies of the
chromosome that they possess instead of two. Nonetheless, many adults with Down’s syndrome
don’t go on to develop the clinical symptoms of Alzheimer’s disease, such as loss of memory.
The LonDownS team, which comprises geneticists, cell biologists, brain imaging specialists,
neuroscientists and psychologists, wishes to understand both the risk and protective factors that
link Down’s syndrome and Alzheimer’s disease outcome.
So, you may be asking, why is my research team planning to test infants when Alzheimer’s is
an adult disease? A good question! Well, we believe that we might be able to discover really
early on which factors place infants with Down’s syndrome at later risk and likewise, which
factors protect them from developing Alzheimer’s in adulthood. We plan to do this at genetic,
cellular, neural, cognitive and behavioural levels. Our ultimate aim is to create intervention
strategies at some or all of these levels in order to enhance the protective factors and positively
impact the development of individuals with Down’s syndrome.
What will this involve for your baby/toddler if you decide to participate? A visit to our Centre
in Bloomsbury, Central London is, we assure you, always fun for children and their parents.
We have a very child-friendly setting, with a colourful reception room full of toys, research
assistants who always have a smile on their face, and many bright and friendly testing rooms.
Parents remain with their children at all times and are totally free to end the
testing if anything bothers them, without having to give a reason. This will
all be carefully explained, closer to the time. While at the Centre, your
child will do a variety of things designed to be engaging and stimulating
for infants and toddlers. For example they will watch fun objects or
scenes on a TV screen while we monitor their eye movements to ascertain
what they pay attention to, and have their brain activity measured in a
totally non-invasive way. It’s a bit like wearing a hairnet with tiny sponges
that measure the natural electrophysiological activity of the brain. Nothing
goes into the brain. Francesca, a delightful little girl with Down’s syndrome (pictured here on
the right wearing the cap), was a volunteer in another study and let us measure her brain activity
while she listened to various sounds and watched interesting images on a screen. Her parents
let us use her lovely photograph when our study was announced in the media. We will ask you
to fill in some questionnaires about your baby’s health, sleep routines, eating habits, social
interaction, likes and dislikes. We will also take a saliva swab to send to our geneticist
colleagues, and painlessly pluck a few strands of hair for the cell biologists. You can, of course
stop us doing anything you prefer us not to do. When we contact you officially in Spring 2013,
we will give you far more details. This letter is really a placeholder for future interactions.
Thank you once again for your interest in this research program aimed to improve outcomes for
children with Down’s syndrome. I do hope that you will still wish to participate in this very
exciting study. We really look forward to getting to know you and your family and will contact
you again in early spring.
With kind regards,
Yours sincerely,
Annette Karmiloff-Smith, CBE, FBA, FMedSci., C.Psychol.
Professorial Research Fellow, Centre for Brain & Cognitive Development
Department of Psychological Sciences, School of Sciences,
Birkbeck, University of London