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Why studying babies could help us understand Alzheimer’s among the elderly

A study is examining the links between Down’s syndrome in babies and Alzheimer’s disease in adults

A pioneering study is underway at Birkbeck to examine the links between Down’s syndrome in babies and Alzheimer’s disease in adults.

The research may lead to a better understanding of the protective factors and risk factors associated with Alzheimer’s – a disease associated with old age. The tests are being carried out as part of the £2.5m London Down’s Syndrome Consortium funded by the Wellcome Trust.

Up to 150 babies and infants with Down’s syndrome, aged from six months to five years, are now being recruited for the study and parents are invited to volunteer their children for a series of non-invasive behavioural tests. All travel and hotel expenses will be reimbursed, and babies and infants from across the UK are invited to take part.

The hypothesis

A research group at Birkbeck’s School of Psychological Sciences, led by Professor Annette Karmiloff-Smith, is currently studying babies with Down’s syndrome to find out more about the changes that occur in the brain during the development of Alzheimer’s disease. Alzheimer’s disease typically occurs in later life, with age being the biggest known risk factor for the condition, which causes memory loss, mood changes and problems with communicating and reasoning.

Babies with Down’s syndrome are being studied because one of the genes implicated in the development of the brain pathology in Alzheimer’s disease (the APP gene) is located on chromosome 21, and individuals with Down’s syndrome have an extra copy of chromosome 21 (three, instead of two). Therefore, they over-express this gene from the very outset of development. Because of this, they have an increased risk of developing Alzheimer’s disease when they reach adulthood, with one in three of those aged 50-59 years suffering from dementia, rising to 50% of those aged over 60.

All individuals with Down’s syndrome will ultimately develop the amyloid-beta plaques typical of Alzheimer’s brain pathology, yet not all of them get dementia in adulthood. Something is protecting some of them from developing dementia, while others are clearly vulnerable to it. So, the research at the Birkbeck’s Babylab will focus on individual differences and sub-groups of babies with Down syndrome, and compare them with older adults with Down syndrome with or without dementia, to try and identify what these protective or risk factors are.

Tests at Birkbeck’s Babylab

Scientists from Birkbeck’s renowned Babylab will conduct a series of experiments with babies and infants with Down’s syndrome. These will be undertaken during two consecutive half days in London, or one of the researchers can visit the family home for some of the tasks and then the family would visit the Babylab  for just half a day. The tests include behavioural  assessments through observation of the child with their parent or caregiver; eye tracking and electrophsysiological assessments using a totally non-invasive electroencephalogram (EEG) (pictured, above right) while the infant watches videos on a screen; and parental questionnaires about the infant’s sleeping routines, eating habits, medical history and early development. The babies really enjoy the sessions, which are made as fun as possible.

The researchers will also be collecting DNA samples (from saliva) to look for genetic markers of increased risk or protection.

Professor Karmiloff-Smith said: “The study of babies with Down’s syndrome may lead to treatments that could slow down the cognitive decline seen in Alzheimer’s disease, or even reverse it. By identifying risk factors for dementia during infancy, we may indeed be able to target preventative treatments for individuals with Down syndrome and for the general population. With dementia expected to affect 1 in 85 adults globally by 2050, this is one of the most exciting projects that I have been involved in during my 36-year research career.”

If your child has Down’s syndrome, is aged between six months and 60 months, and you would like to take part in the research, please .

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