Actor Duncan Armstrong stars in a series of new videos released by the Health and Disability Commissioner and the Nationwide Health and Disability Advocacy Service to help people with learning disabilities think about their own experiences with using disability services and their rights under the Code.

There are five videos, each with a different story. The videos look at how Sam, played by Duncan, and his friends use disability support services and how they resolve any concerns that they have.

The videos were produced by Film for Change Aotearoa and made locally in Wellington with Wellington actors, including people who use disability services.

Each video has a closed captions option, and the closed captions and slides have been transcribed into Word documents. Deaf Aotearoa has created New Zealand Sign Language (NZSL) for each video.

 

Some people can’t wear a face mask or covering because of a disability.

The NZDSA have designed these cards to help you in public situations.

The first side of the card is always the same and some people will be happy using it on its own.

Show it to quickly explain that you have a legal reasonable excuse not to wear a face mask.

If you want a non-verbal way to explain more you can double side your card with one of the extra messages. These can be printed or kept on your phone as photos.

YOU CAN PRINT THEM ALL OFF HERE.

 

Dementia is more common in people with Down syndrome than the general population. Liz Evans and Tanya Duckworth review research on why this is the case, along with recommendations for how families can support a loved one with dementia.

The term dementia doesn’t refer to one specific disease but a set of symptoms caused by a number of different brain disorders. Dementia results in a decline in a person’s mental abilities–their capacity to think, reason, and remember.

Most people with dementia will experience changes like:

  • declines in memory, with more recent information or events being harder to remember
  • difficulty concentrating
  • difficulty finding the correct words to say
  • reduced capacity to plan, to pay attention, and poorer judgement
  • feeling less motivated
  • personality and behaviour changes.

When dementia occurs in people under the age of 65, it is called ‘younger onset dementia’.

There are many different types of dementia with different patterns of symptoms. The most common form is Alzheimer’s disease. People with Alzheimer’s disease show progressive memory loss and a gradual decline in other skills. Their brains show changes in the form of a build-up of sticky plaques between the brain cells and tangles within the cells1.

Dementia is not a normal part of ageing.

Normal ageing does mean that the brain slows down, and it is common to find it harder to remember things as we age. However, forgetting recent events and conversations, forgetting the names of family members, and losing skills we once had are not normal at any age.

 

But changes in a person’s memory and thinking skills can also be caused by other medical conditions, many of which can be successfully treated.

Examples include:

  • a vitamin or mineral deficiency
  • a mental health problem such as depression
  • problems with sight or hearing
  • a side effect of new medication, or even a change in how their body deals with existing medications
  • an underactive thyroid (hypothyroidism)

 

Some of these conditions are more common in people with Down syndrome than the general population. So, any time a person is showing a decline in their thinking or memory, or changes to personality and behaviour, it is important to talk to their doctor about it straight away.

 

How common is dementia in people with Down syndrome?

Dementia, particularly Alzheimer’s disease, is much more common in people with Down syndrome than the general population and it tends to occur at a younger age. Scientists believe this is because a gene on chromosome 21 called the amyloid precursor protein (APP) gene plays a major role in the brain changes associated with Alzheimer’s disease. Genes are a code for proteins, and because most people with Down syndrome have three copies of this gene, they get more of its protein1.

 

Different studies have found very different rates of dementia in people with Down syndrome, ranging from under 10% up to 49 years of age, to around 30% for those in their 50s, and over 50% for those aged over 602. One recent study found a rate of just over 50% in those over 60 years3, but another recent study found a rate above 80% in those over 654. he average age for diagnosis is in the mid 50s4.

 

he outward symptoms of dementia do not start for some years after this and somelive into old age without developing symptoms3. So, it is not inevitable that a person with Down syndrome will get dementia but, due to the increased risk, it is still likely.

 

What are the signs of dementia in people with Down syndrome?

In people without Down syndrome, the earliest signs of Alzheimer’s disease are usually memory problems. But in people with Down syndrome, the first signs noticed by carers are more likely to be changes in behaviour and personality, such as increased stubbornness and behaving inappropriately. Other early signs include difficulty paying attention and lower ability to plan, solve problems, and make judgements5, 6.

 

Other changes may include 5, 6:

  • apathy
  • social withdrawal
  • increased dependency
  • confusion
  • prolonged sadness
  • fearfulness
  • repetitive speech
  • getting lost or disoriented in familiar places
  • irritability or aggression
  • seizures for the first time in adulthood

 

 

What is the latest research on dementia in Down syndrome focused on?

Scientists are working in a number of areas to further knowledge about the link between Down syndrome and dementia. Two important areas of current research are regarding diagnosis, and possible future treatments.

Our own research team is conducting the Successful Ageing in Intellectual Disability (SAge-ID) Study. One of the aims of that study is to compare different screening tools and assessments that may be suitable for people with intellectual disability, including those with Down syndrome. A further aim is to look at the factors associated with a higher risk of dementia in this group. People with intellectual disability aged over 40 can participate in the study, including those with or without dementia. This is to ensure a good a mix of those who are healthy and those experiencing declines.

Other researchers are looking at different biological markers that might be able to identify the brain changes associated with Alzheimer’s disease much earlier, even before cognitive symptoms begin. Examples include protein changes in a person’s blood, new types of brain scans, and measuring brain waves through EEG. If such measures could reliably detect brain changes earlier, then this could one day aid in directing specific therapies during the window before symptoms start1, 7. It could also help researchers as they try to develop and test future therapies focused on preventing dementia.

Certain medications can help to slow the rate of cognitive decline in some people who have dementia. However, studies with people with Down syndrome have found inconsistent results about whether these medications are effective, though some case studies suggest they may be for some people8, 9. However, people with Down syndrome may have an increased risk of side effects from these medications9.

Newer research is trying to develop future treatments that could prevent or alter the course of Alzheimer’s disease7, not just address the symptoms. Much of the research on drugs and neurotransmitters (brain chemicals) is done initially using mice. The safety and usefulness for humans then needs to be established.

 

A handful of studies have also looked at whether antioxidants could prevent or slow Alzheimer’s disease in people with Down syndrome10. So far, the results have not found that antioxidants worked to prevent decline8. Instead, results have pointed to the highly complex nature of the brain changes that lead to cognitive decline in people with Down syndrome. Much more research will be needed before scientists can identify specific supplements that may reduce dementia risk in people with Down syndrome.

Are there factors that increase–or decrease–the chances that a person with Down syndrome will develop dementia?

 

There is only a small amount of research about risk factors specific to people with Down syndrome. A handful of case studies suggest that people with atypical forms of Down syndrome may have a lower risk of developing Alzheimer’s disease11. Other studies have looked at the role of particular genes known to influence risk in the general population, but results are not always consistent across studies. Results regarding the potential influence of gender, hormones, and level of intellectual disability have also varied between studies.

 

However, much of what is known about dementia in the general population could also apply to those with Down syndrome. There is a considerable amount of evidence from the general population to support the protective effects of a healthy lifestyle. Research regarding people with Down syndrome is lacking but the World Health Organisation12 recommends that people with intellectual disabilities should focus on similar targets.

 

A healthy lifestyle aiming to reduce dementia risk would include good nutrition, regular exercise, and not smoking12-14. People (in the general population) who regularly do moderate-intensity exercise have a lower risk of dementia. They also have a higher brain volume in areas related to memory, planning, and learning.

The Mediterranean diet has also been found to reduce dementia risk in the general population as has staying socially active and engaging in stimulating activities for leisure, work, or education.13

One of the most important elements of a healthy lifestyle is preventative health care including regular medical check-ups. Good physical and mental health throughout life is associated with a lower dementia risk in the general population13.

People with intellectual disabilities often have undiagnosed or untreated health conditions which could be treated.

Sensory problems and physical disabilities can also compound their health and quality of life.

In the general population, cardiovascular disease is a particularly important risk factor for dementia15.

In general, people with Down syndrome have an overall lower risk of cardiovascular disease than the general population. However, it is reasonable to assume that for those people with Down syndrome who do have risk factors for cardiovascular disease, these factors would increase the risk of dementia. Such risk factors include a family history of heart disease and stroke, having diabetes, low levels of physical activity, a diet high in saturated fats, and smoking16.

 

Obstructive sleep apnoea is also known to increase the risk of dementia in the general population and it is very common in people with Down syndrome. It is possible that this could be an important additional risk factor for people with Down syndrome15. Medical management of obstructive sleep apnoea is based on an individual sleep study.

 

How can families identify the early stages of dementia and differentiate those from mental illness or other problems?

 

Diagnosing dementia in people with Down syndrome can be difficult. The standard tools for assessing cognitive function in the general population are not suitable when someone has an intellectual disability.

What is needed is to compare the person’s functioning to what it was before symptoms began9, but the person’s typical level of function may not be well documented.

As a result, health professionals rely on information provided by family, carers and other people who know the person well, to help come to an accurate diagnosis6. So it is important for the people close to the person with Down syndrome to know the early signs of dementia and to consult a doctor about any changes observed or any other concerns.

The earliest noticeable signs in people with Down syndrome may be behavioural or personality changes. If a person with Down syndrome consults a doctor when these changes are observed, then memory and other cognitive testing can be carried out at regular intervals to help to determine if decline is also occurring5.

 

There are tools available such as the Early Detection Screen for Dementia recommended by the National Task Group in the US. This is a tool that can help you to track your loved one’s skills and any changes in their functioning time. At present, the tool does not provide a cut-off score: rather, it is designed to facilitate talking about any observed changes with a health professional.

 

While families and carers are critical to recognising changes in their loved one, consulting a doctor is essential to determining whether those changes might be dementia or something else. There are other conditions that may look the same as dementia, many of which can be tested for and treated.

 

What can parents/carers do to prepare for the management of dementia in their loved ones?

If your loved one develops dementia, the keys to supporting them will be early planning and working well with their doctor and other professionals. So encourage your loved-one to find an attentive doctor they feel comfortable with, and to continue to see that doctor for annual health checks.

Early planning for any transitions begins with getting a diagnosis as early as possible. A baseline assessment of their skills when healthy is helpful. Use the free screening tool, and, if resources permit, arrange an assessment with a psychologist or psychiatrist.

Current recommendations are that people with Down syndrome have a cognitive assessment around age 30, to establish their normal level of functioning before declines begin and again at age 4017. But if they start to show declines, the assessment could be repeated annually5.

 

Build as much of a support network as possible around the person with Down syndrome. If dementia is diagnosed, talk with the person with Down syndrome about who is in their life and who they would like to invite to be involved in their care. Wherever possible, include the person as early as possible in the planning process. This may include discussions of end-of-life care18.

Support your loved one to understand their diagnosis so that they may participate in this planning. An easy-read fact sheet with pictures can help (see the resources links below). Find out what your loved one’s preferences are regarding care options, end-of-life planning, and what is important to them for their care18.

Families can facilitate holding onto items, such as photos and holiday souvenirs, which may one day serve a purpose in a memory box or life story. These are tools which can assist someone with dementia who is beginning to lose their memory. They can also aid communication between a person with dementia and others, and may help paid workers to understand the person better18.

Look into available services. People with Down syndrome have the right to access mainstream health services and aged care services. Those with younger onset dementia (before the age of 65 years) can also access aged care services if they have a diagnosis or suspected dementia. The National Younger Onset Dementia Keyworker Program can be accessed before a formal diagnosis is made. Of course, people with Down syndrome and dementia also remain eligible for disability-related supports. A range of allied health professionals may be involved in the care of someone with intellectual disability and dementia to promote their wellbeing.

 

As dementia progresses, the care goal needs to shift from supporting independence towards providing care and eventually palliative care 19, 20. Many people with Down syndrome and dementia may want to remain where they are living and their families may want this too21. However, if and when their care requirements can no longer be met in their current place, options will include transfer an aged-care facility or another disability service. Long-term planning for such transitions is helpful.

 

Dr Liz Evans is a NHMRC-ARC Dementia Research Fellow and Tanya Duckworth is a research assistant with qualifications in psychology and cognitive neuroscience. They are from the Department of Developmental Disability Neuropsychiatry (3DN), within the School of Psychiatry at the University of New South Wales in Sydney.

Resources

An easy read factsheet is available from the Alzheimer’s Society (UK) here:
https://www.alzheimers.org.uk/site/scripts/download_info.php?downloadID=1092

The screening tool recommended by the US National Task Group is available from this site: http://aadmd.org/ntg/screening

Alzheimer’s Australia has made a video about dementia in people with intellectual disability. It can be viewed here: www.dementia.org.au/videos/collections?playlist=IntellectualDisability

 

If you would like further information, or would like to talk to us about the SAge-ID study, please phone Tanya or Liz on (02) 9931 9160 or email us at [email protected]

 

 

References:

 

  1. Wilson, L., T. Annus, S. Zaman, and A. Holland, Understanding the process; links between Down Syndrome and dementia. Intellectual Disability and Dementia; Research into practice. London: Jessica Kingsley Publishers, 2014: p. 34-52.
  2. Sinai, A., T. Chan, and A. Strydom, The Epidemiology of Dementia in People with Intellectual Disabilities. Intellectual Disability and Dementia: Research into Practice, 2014: p. 24-33.
  3. Margallo‐Lana, M., P. Moore, D. Kay, R. Perry, B. Reid, T. Berney, and S.P. Tyrer, Fifteen‐year follow‐up of 92 hospitalized adults with Down’s syndrome: incidence of cognitive decline, its relationship to age and neuropathology. Journal of Intellectual Disability Research, 2007. 51(6): p. 463-477.
  4. McCarron, M., P. McCallion, E. Reilly, P. Dunne, R. Carroll, and N. Mulryan, A prospective 20-year longitudinal follow-up of dementia in persons with Down syndrome. J Intellect Disabil Res, 2017. 61(9): p. 843-852.
  5. Lautarescu, B.A., A.J. Holland, and S.H. Zaman, The Early Presentation of Dementia in People with Down Syndrome: a Systematic Review of Longitudinal Studies. Neuropsychol Rev, 2017. 27(1): p. 31-45.
  6. Nieuwenhuis-Mark, R.E., Diagnosing Alzheimer’s dementia in Down syndrome: problems and possible solutions. Res Dev Disabil, 2009. 30(5): p. 827-38.
  7. Castro, P., S. Zaman, and A. Holland, Alzheimer’s disease in people with Down’s syndrome: the prospects for and the challenges of developing preventative treatments. Journal of Neurology. 264(4): p. 804-813.
  8. Courtenay, K. and N. Eadie, Medication treatment of dementia in people with intellectual disabilities. Intellectual Disability and Dementia: Research into Practice, 2014: p. 62.
  9. Torr, J., Dementias, in Psychiatric and Behavioural Disorders in Intellectual and Developmental Disabilities C. Hemmings and N. Bouras, Editors. 2016, Cambridge Univrsity Press: Cambridge, UK.
  10. Ballard, C., W. Mobley, J. Hardy, G. Williams, and A. Corbett, Dementia in Down’s syndrome. The Lancet Neurology, 2016. 15(6): p. 622-636.
  11. Schupf, N. and G.H. Sergievsky, Genetic and host factors for dementia in Down’s syndrome. The British Journal of Psychiatry, 2002. 180(5): p. 405-410.
  12. World Health Organization, Ageing and Intellectual Disabilities – Improving Longevity and Promoting Healthy Ageing: Summative Report. 2000, World Health Organization: Geneva, Switzerland.
  13. Reppermund, S. and J.N. Trollor, Successful ageing for people with an intellectual disability. Curr Opin Psychiatry, 2016. 29(2): p. 149-54.
  14. Sisirak, J. and B. Marks, Health and wellness strand: recommendations from National Goals Conference 2015. Inclusion, 2015. 3(4): p. 232-249.
  15. Wilcock, D.M., F.A. Schmitt, and E. Head, Cerebrovascular contributions to aging and Alzheimer’s disease in Down syndrome. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 2016. 1862(5): p. 909-914.
  16. Trollor, J., C. Salomon, J. Curtis, A. Watkins, S. Rosenbaum, K. Samaras, and P.B. Ward, Positive cardiometabolic health for adults with intellectual disability: an early intervention framework. Australian Journal of Primary Health, 2016. 22(4): p. 288-293.
  17. Dodd, K., S. Coles, T. Finnamore, T. Holland, S.K. Gangadharam, M. Scheepers, . . . S. Wilson Dementia and people with intellectual disabilities: Guidance on the assessment, diagnosis, interventions and support of people with intellectual disabilities who develop dementia 2015.
  18. Towers, C. and H. Wilkinson, Planning ahead: Supporting families to shape the future after a diagnosis of dementia. Intellectual Disability and Dementia: Research into Practice, 2014: p. 161-182.
  19. Carling-Jenkins, R. and C. Bigby. Supporting people with intellectual disability and dementia: A training and resource guide PowerPoint presentation for managers of disability organisations.; Available from: http://www.karingal.org.au/media/529677/day_one_-_dsws_-_karingal_theme.pdf.
  20. Jokinen, N., M.P. Janicki, S.M. Keller, P. McCallion, and L.T. Force, Guidelines for structuring community care and supports for people with intellectual disabilities affected by dementia. Journal of Policy and Practice in Intellectual Disabilities, 2013. 10(1): p. 1-24.
  21. Carling-Jenkins, R., C. Bigby, and T. Iacono, Family experiences of supporting a person with Down syndrome and dementia in Australia. Intellectual Disability and Dementia: Research into Practice, 2014: p. 145-60.

 

 

 

 

by Coen Lammers

As life expectancy of people with Down syndrome is increasing, the number of them developing dementia is also growing.

The extra chromosome that causes the developmental and health issues associated with Down syndrome also carries the Alzheimer’s genes, so people with Down syndrome often develop dementia at an earlier age.

Research shows that about one third of people with Down syndrome over 50 years develop dementia, which is creating new questions and challenges for families, support workers and health services.

Two leading Australian scientists analysed all the available research around this subject which they published last year.

Currently in New Zealand, there is no coordinated effort from the health authorities to prepare the sector for the ageing population with Down syndrome, so people on the frontline are left to come up with their own solutions, in their own community.

Hohepa Canterbury in Christchurch provides residential care and other services for people with intellectual disabilities and may be the only organisation in the country with a dedicated dementia unit for people with Down syndrome.

General manager Arnah Trelease explains that people with Down syndrome and dementia need specific care and staff need specialist training, which Hohepa originally was not able to offer.

“When the first people presented with dementia, they had to move to rest homes, where sadly they would not last very long and usually pass away within six months,” says Trelease.

Moving their clients away from Hohepa, however, was contrary to the commitment the organisation had made to its members that they could live out their days in their own environment.

“Dougie Brown was one of our original clients back in 1964 and when he started developing dementia, his mother Jendy refused to let him go to a rest home and reminded us of our commitment to our people.”

Hohepa considered its options and decided to turn Dougie’s house, Rose Cottage, into a dementia unit within Hohepa.

“We had to move Dougie’s house mates to different houses on our grounds, which got some resistance from the families, but they now tell us that we made the right decision,” says Trelease, who adds that the establishment of the dementia unit was only possible thanks to close collaboration with the Canterbury District Health Board.

“Tracey Hawkes from the CDHB has trained our staff in the Walking In Another’s Shoes programme to give them dementia related skills and helped us set up Rose Cottage.”

Juliet Nelson is the Integrated Support Manager running Rose Cottage and she says the big difference with a normal rest home are the staffing levels and the fact that people stay amongst their own people in a familiar environment.

The five clients who currently live at the cottage have two staff members, which is a significantly higher ratio than rest homes, which enables the staff to engage with the clients more one-on-one and find activities that fit the stages they are in.

“They remain part of our community and live as a family. They can watch the meals being prepared and sit around the table to have dinner,” says Nelson.

Hohepa has clients ranging from 6 to 82 years of age. “So they should not be moving out at the most vulnerable stage of their lives,” says Trelease.

“They should be able live out their lives in a familiar environment,” says Trelease who adds adds that the demand for dementia care is increasing and Hohepa are about to open a second unit.

“It feels like we’ve got a flood coming, and not just here. Other providers are contacting us because they may have one or two people getting dementia but are not able to set up their own units, so I think we will need a lot more collaboration in this space,” says Trelease.

Geraldine Whatnell on the other hand feels that the flood is more likely to be trickle.

Whatnell is part of the National Dementia and Intellectual Disabilities Steering Group and the first qualified Nurse Practitioner Dual Disabilties in New Zealand, specialising in intellectual disabilities and/or Autism Spectrum Disorder and associated mental health needs.

She says the most recent research indicates that the numbers of people with Down syndrome developing dementia may not be as high as assumed a few years ago.

Whatnell says he numbers may be inflated because many people with Down syndrome are incorrectly diagnosed as having dementia.

“Someone may present as being confused or off their food and doctors often go straight to dementia because they see someone with Down syndrome. In many cases, however, there could be other health reasons that can be easily reversed,” says Whatnell.

She says that people with Down syndrome are often diagnosed too late because they do not have the language skills that indicate any changes.  “So caregivers and health providers need to look for other indicators.”

The early warning signs for dementia is often epilepsy and starts presenting itself in the late 40s.

To help the doctors with their assessment, Whatnell hopes one day soon every person with Down syndrome will complete a baseline test when they are around 30 years, the Baseline Observation of Functioning For People with Intellectual Disabilities (BOFIID).

“And once you have that baseline doctors can compare those data when that same person presents later in life,” says Whatnell, adding that early diagnosis can lead to better support, better quality of life and less anxiety for the families.

To get a clearer picture if there is any onset of dementia in their 40s, caregivers can also use another effective screening tool, the Dementia Screen Questionnaire for Individuals with Intellectual Disabilities (DSQIDD).

Unfortunately, the Ministry of Health does not have data on how many people with Down syndrome in New Zealand have dementia.

Toni Atkinson, Group Manager Disability Support Services at the Ministry of Health, says the Ministry is aware of the misdiagnosis issue, but hopes the DSQIID baseline will help health professionals and support workers to notice any earlier decline in functioning.
“New Zealand has a growing and ageing population and we recognise that people with Down syndrome and their families will also be looking to the future and what supports are available.”

Linda te Kaat  attended the New South Wales Down Syndrome Health Conference and reports how oral health is a major issue to consider for caregivers.

Oral health is the greatest health need for people with Down syndrome.  Oral disease shares common risk factors with cardiovascular disease, diabetes, cancer and chronic obstructive pulmonary disease. 

What is dental disease, and can it be prevented? 

 

  • Decaying teethA cavity can result in tooth enamel dissolving over time.  Early prevention can reverse tooth decay. 

 

  • Periodontal diseases This effects the gums and bone around the teeth.  Gingivitis is reversible and signs are red and swollen gums and bleeding on brushing.  There will be no signs on an X-ray and no pain and may be present in more than one tooth.  This develops more quickly in people with Down syndrome due to an altered immune reaction to plaque.  Bacteria invade below the gums to cause inflammation which can lead to bone loss around the tooth root if not treated.  X-rays are the only way to show if there is any bone loss. This also leads to bad breath and teeth can get loose or move and pain can occur on biting.    There is often no pain in late stages of this disease and it always requires dental treatment.     

 

  • Trauma to tooth or jaw.  Falls can cause dental trauma.  Any tooth that has been chipped, moved or discoloured needs immediate treatments.  Teeth that have been knocked out can be put back in again but never touch the root of the tooth and get the tooth to a dentist immediately.  Dead teeth do not hurt but can be infected.  Falls on the chin with problems opening the mouth may be a fracture to the jaw. 

 

  • TMJ (Temporomandibular joint & muscle disorders). This is caused by trauma to the jaw or TM joint or by grinding teeth from stress.  That symptoms to look out for are  pain or stiffness in the chewing muscles (often one sided), limited movement or locking of the jaw, painful clicking and popping or grating in the jaw on opening. This conditions tends to be more common in woman.  The treatment is often simple and in most cases the discomfort will go away with little or no treatment.  Eat small pieces of food, apply ice packs or heat packs.  Avoid extreme jaw movements like wide yawning and chewing gum.  Short term use of Nurofen may be useful. 

 

Without X-rays, up to 40% of decay can be missed and therefore it is vital that these are carried out routinely.   

Toothbrushing requires the same manually dexterity as handwriting and many people with Down syndrome find this difficult therefore regular dental care is required.   

Often cysts may not be painful, and antibiotics can stop the pain and infection, but infection can still be in the bone and not picked up without an X-ray.   

Chronic pain can lead to changes in behaviour and people with Down syndrome can have a high pain tolerance therefore once it reaches the level of pain it can sometimes be a major dental problem.  
Always use toothpaste with fluoride in it and never rinse the mouth after brushing.   

Savacol is good for plaque build-up and a mouthwash with fluoride is ideal.  This can also be used on a toothbrush to brush around teeth if they person is unable to swish and spit.    

The Oral-B electric toothbrush was also recommended as not only one of the cheapest but also the best to use but sometimes electric toothbrushes are not tolerated by our young onesso use gradually to get used to it and start at a young age.   

 

You should seek professional care when there is: 

  • Any swelling of the mouth, face or neck.   
  • Any ulcer that does not heal 
  • Any persistent burning of the mouth 
  • Any severe pain in the teeth – even if it stops 

 

For people that cannot explain their symptoms, watch out for a change in eating habits, oral behaviour or bad breath 

 Before going for treatment, discuss with the person with Down syndrome what is going to happen and use books to illustrate what they can expect. 

Always keep the language positive and if possible try to have a first visit as an introduction without any serious treatment. 

 

UNDER ATTACK

Is the Down syndrome community under threat?

New Zealand is on the cusp of introducing more advanced antenatal testing for Down syndrome. COEN LAMMERS investigates if the Down syndrome community should feel under attack and looks at the ethical, medical and social issues at the heart of this debate.

Pre-natal screening for Down syndrome and other genetic disorders has long been a contentious issue in New Zealand and abroad.

The introduction of more sophisticated and conclusive testing methods has increased termination rates and triggered a global debate around screening ethics, the value of a life with a disability and state-sponsored elimination of Down syndrome.

In some European countries, babies with Down syndrome have become a rarity.

Iceland has reportedly reached a 100% termination rate, closely followed by Denmark where in 2017 only four new babies were born with Down syndrome.
Whether you agree with the abortion policies in those countries or not, the undeniable fact is that in many countries young people with Down syndrome will soon become an uncommon sight, or worse, an unwanted anomaly.

A striking example of the growing sentiment that Down syndrome is a burden that some societies can do without, was highlighted last year in the Netherlands where some media commentators debated whether Dutch women had a moral duty to abort their babies with Down syndrome.

Their comments were based on a list published by the Dutch Ministry of Health of the most expensive diseases and conditions which rated Down syndrome as the most expensive condition to the tax payer.

This list and the articles were widely discredited, challenged and condemned as biased because it conveniently ignored major health areas like cancer.
This discussion triggered one Dutch physician to tweet that “We haven’t come this close to Nazi before,” referring to the systematic extermination of disabled people in Nazi Germany.

This quote may sound dramatic, but the overseas trends and policies in some of these so-called enlightened and modern societies have caused strong concerns in the global Down syndrome community about the value their own society puts on a life with Down syndrome.

Unfortunately, as they are introducing more effective screening programmes, most countries have not had a wide public discussion around this sensitive issue.
Statistics from the United Kingdom show that the termination rate of women who have had a positive screening test, has not changed over the past few decades and remains around a staggering 90%.

What has changed with the introduction of more sophisticated tests, is the actual number of positive tests and subsequent abortions in the UK, increasing from 482 in 2010 to 706 in 2016.

This year the National Health Service in the UK is rolling out the Non-Invasive Prenatal Testing (NIPT) which gives women a near conclusive result on whether their baby will have Down syndrome.

Some critics in the UK have argued against the introduction of the test, fearing Icelandic statistics.

The NIPT test is not yet widely available in New Zealand and Dr Jane O’Hallahan, Clinical Director of the National Screening Unit, says that a slower uptake can in this instance give New Zealand an advantage and the opportunity to have a debate on how to introduce the test in a responsible manner.

“We need to tread very carefully around the ethics and the management of introducing this test in New Zealand,” says Dr O’Hallahan.

The NIPT is already privately available in New Zealand but Dr O’Hallahan says that the Ministry of Health is likely to make the test available, initially for women with a higher chance of having a baby with Down syndrome or other genetic disorders.

Dr O’Hallahan understands why the overseas statistics cause concern in the New Zealand Down syndrome community and is adamant that the Ministry of Health does not share the views of their European counterparts.

“There is no agenda to terminate lives with Down syndrome.”

Unfortunately, the Ministry of Health does not keep any records on positive tests for Down syndrome and terminations.

Dr O’Hallahan says that roughly the same number of children with Down syndrome have been born in New Zealand in recent years and from that she concludes that improved testing has not triggered a rise in terminations.

The National Screening Unit has created a working group of stakeholders to look at ways of improving informed choice for all ethnicities. This working group includes New Zealand Down Syndrome Association National Executive Zandra Vaccarino and board member Kim Porthouse.

Dr O’Hallahan says these stakeholders are providing valuable insights, beyond the medical discussions.

Mrs Porthouse says that the NZDSA wants the medical sector to understand that the screening debate is a social issue, not just a medical issue. “And the social implications need to be part of these discussions.”

She has an interesting perspective as a midwife and a mother of a son with Down syndrome and feels that there are two specific issues at stake in the screening discussions.
In her view, the pregnant women firstly need to be better informed before they decide to have any tests at all, and if they receive a positive test, the women need to get more balanced information about Down syndrome.

Mrs Porthouse says that most women think the tests are standard and don’t really consider the impact the results can have and the sudden life-changing decisions they may be facing.

“People think they are just going to take a picture when they get their first scan,” says Mrs Porthouse who feels that pregnant women should be better informed that the reason for the 12-week scan is for an NT (Nuchal Translucency) scan as part of the MSS1 (Maternal Serum Screening) screen.

The Ministry of Health has produced a brochure on Screening for Down syndrome, which clearly spells out the options and the choices women have, but Mrs Porthouse doubts if the brochure is used widely at present.

“Women should be offered the option to take this away to read through before deciding to screen, but often due to timing, most decide at the initial booking appointment.”
If they undertake the screening and it detects a higher risk or chance of Down syndrome, the families are forced to make quick, big decisions.

They need to make a call on having an amniocentesis, which carries a small risk of losing the baby, or in some centres they may be offered the NIPT test, which is expensive. They also need to consider what impact a baby with Down syndrome may have on their lives.

If the additional more-conclusive testing indicates the baby has Down syndrome, the medical provider will explain what Down syndrome is, but in most cases this talk will merely feature a long list of medical conditions the child may or may not develop during their lives.

“The doctors will cover themselves for everything, even if there is just a minimal chance the child will ever have those issues,” says Mrs Porthouse. Mrs Porthouse says the women are not being counselled on the wider social issue and positive impact a child with Down syndrome could have on their lives and community. “These families need to get the chance to talk to parents who are living with Down syndrome or other people who have faced the same decision.”

Instead, she is aware of anecdotal evidence that women often feel pressured to terminate their pregnancy. “It is a very emotional time for the families and it is hard to think clearly, so if you are only presented with a long list of all the things that can go wrong with your child, it is not hard to see that people opt for termination. “In many cases, it can be a decision they regret,” says Mrs Porthouse who personally knows of parents who after termination have struggled with their decision. “In some cases, the people get to know more about Down syndrome or get to know someone and they find out it was not at all what the doctors had made them believe. For some it has been devastating.”

Dr Jane O’Hallahan is aware of the cases in which women feel pressured to terminate their pregnancy. “But we don’t know how widespread this, but there should be no pressure.”
The Clinical Director of the National Screening Unit says that the Ministry of Health is aware of the issues and is continuously improving information going to women. “However the introduction of NIPT in the future will require an overhaul of the informed choice process to enable women to make the right decision for them and their families,” says Dr O’Hallahan, who admits that her colleagues often portray a future with Down syndrome in a negative light.

Dr O’Hallahan says that the information provided is “over-medicalised” and is not a social discussion. “It does not consider the value of people with Down syndrome or the fact that these people add value to so many lives of others.”

As an example, the Director mentions her own daughter who had the privilege of following a family with a newborn with Down Syndrome during her medical studies – a lovely experience that would benefit all medical students.

Dr O’Hallahan says that the feedback from the NZDSA and other stakeholders on the working group had been valuable to show the social side of Down syndrome and that the National Screening Unit is more focused on counselling and providing better education for medical professionals and medical students about Down syndrome. “We are currently putting a lot of effort into giving more holistic information to give a real picture of what life with Down Syndrome is like. We are investing to give women the right information, so they can make the right decision for them and their family.”

 

ANTENATAL SCREENING

What are all the tests and what do they mean.

NT scan: Nuchal Translucency ultrasound scan performed around 12 weeks (range 11 weeks to 13 weeks, 6 days). It measures the fluid in the nuchal space at the back of the foetal neck. The old test used to combine just the scan with maternal age to give a risk of Down syndrome. Risk results are no longer provided on NT scan alone as they are less accurate compared to MSS1 or MSS2 screens. The NT scan is now only used in conjunction with the MSS1 calculation.

MSS1 screen: Maternal Serum Screening (combined blood test – 2 markers – and NT scan) performed in the first trimester of pregnancy until 13 weeks 6 days gestation. Current government funded screen, offered to all women who engage with antenatal care in the first trimester.

MSS2 screen: Maternal Serum Screening (4 marker blood test, no scan) performed between 14 weeks to 20 weeks gestation. Accuracy levels are said to be about the same as MSS1 screen, offered to all women who engaged with services too late for MSS1 screening or those who prefer not to have ultrasound scans of their pregnancy. Government funded.

NIPT (or NIPS) test: Non-Invasive Prenatal Screening. Blood test only (new blood test which is different to MSS1), is said to be 99+% accuracy. Currently not government funded in New Zealand and expensive.

Amniocentesis: diagnostic test in which a needle under ultrasound guidance is used to draw fluid from around the foetus. This fluid contains foetal cells which are used to look at chromosomes to see if Trisomy 21 (Down Syndrome) exists. Carries a risk of miscarriage of 0.5 to 1.0% (1:100 – 1:200).

By George T. Capone M.D., at the Kennedy Krieger Institute in Baltimore

During the past 10 years, I’ve evaluated hundreds of children with Down syndrome, each one with their own strengths and weaknesses, and certainly their own personality.

Sometimes parents bring their child with Down syndrome to the clinic—not always for the first time—and they are deeply distraught about a change in their child’s behaviour or development. Some families do their own research and mention they think their child may have autistic spectrum disorder (ASD) along with Down syndrome. Others have no idea what may be happening. They do know it isn’t good and they want answers now. This article is for families in situations like this and other, similar ones.

If your child has been dually-diagnosed with Down syndrome and autistic spectrum disorder (DS-ASD) or if you believe your child may have ASD, you will learn a little more about what that means, what we are learning through data collection, and insights to the evaluation process.

There is little written in the form of research or commentary about DS-ASD. In fact, until recently, it was commonly believed that the two conditions could not exist together. Parents were told their child had Down syndrome with a severe to profound cognitive impairment without further investigation or intervention into a diagnostic cause. Today, the medical profession recognises that people with Down syndrome may also have a psychiatric-related diagnosis such as ASD or Obsessive Compulsive Disorder (OCD).

Because this philosophy is relatively new to medical and educational professionals, there is little known about children and adults with DS-ASD medically or educationally.

Over the past six years we have gathered data and studied DS-ASD at Kennedy Krieger Institute in Baltimore. We have collected and analysed data from clinical medical evaluations, psychological and behavioural testing, and MRI scans of the brain. We now follow a cohort of approximately 30 children with DS-ASD through the Down syndrome Clinic, possibly the largest group of children with DS-ASD that has been gathered.

What Should I Look For?
SIGNS AND SYMPTOMS

As parents, it is common, if not expected, for you to worry at times about your child’s development.

This can be especially troublesome if your child suddenly picks up a new habit you associate with ASD such as incessantly shaking toys. The children we have seen at Kennedy Krieger Institute who have DS-ASD present symptoms in several different ways, which we have separated into two general groups:

GROUP ONE

Children in this first group appear to display “atypical” behaviours early. During infancy or toddler years you may see:

  • Repetitive motor behaviours (fingers in mouth, hand flapping),
  • Fascination with and staring at lights, ceiling fans, or fingers,
  • Extreme food refusal,
  • Receptive language problems (poor understanding and use of gestures) possibly giving the appearance that the child does not hear, and
  • Spoken language may be highly repetitive or absent.
  • Along with these behaviours, other medical conditions may also be present including seizures, dysfunctional swallow, nystagmus (a constant movement of the eyes), or severe hypotonia (low muscle tone) with a delay in motor skills.

If your child with Down syndrome is young, you may see only one or a few of the behaviours listed above. This does not mean your child will necessarily progress to have autistic spectrum disorder. It does mean that they should be monitored closely and may benefit from receiving different intervention services (such as sensory integration) and teaching strategies (such as visual communication strategies or discrete trial teaching) to promote learning.

GROUP TWO

A second group of children are usually older. This group of children experiences a dramatic loss (or plateauing) in their acquisition and use of language and social-attending skills. This developmental regression may be followed by excessive irritability, anxiety, and the onset of repetitive behaviours.

This situation is most often reported by parents to occur following an otherwise “typical” course of early development for a child with Down syndrome. According to parents, this regression most often occurs between ages three to seven years.

The medical concerns and strategies for these two groups may be different. There is not enough information available to know at this time. However, regardless of how or when ASD is first discovered, children with DS-ASD have similar educational and behavioural needs once they are identified.

ASD 101: A Crash Course
SIGNS AND SYMPTOMS VARY

Although we are documenting some similarities in the way DS-ASD presents, autism is what is considered a spectrum disorder. This means every child with DS-ASD will be different in one way or another. Some will have speech, some will not. Some will rely heavily on routine and order, and others will be more easy-going.
Combined with the wide range of abilities seen in Down syndrome alone, it can feel mystifying. It is easier if you have an understanding of ASD disorders separate from Down syndrome.
Autism, autistic-like condition, autistic spectrum disorder (ASD), and pervasive developmental disorder (PDD) are terms that mean the same thing, more or less. They all refer to a neuro-behavioural syndrome diagnosed by the appearance of specific symptoms and developmental delays early in life.
These symptoms result from an underlying disorder of the brain, which may have multiple causes, including Down syndrome. At this time, there is some disagreement in the medical community regarding the specific evaluations necessary to identify the syndrome or the degree to which certain “core-features” must be present to establish the diagnosis of ASD in a child with Down syndrome. Unfortunately, the lack of specific diagnostic tests creates considerable confusion for professionals, parents, and others trying to understand the child and develop an optimal medical care and effective educational program.

There is general agreement that:

  • Autism is a spectrum disorder: it may be mild or severe.
  • Many of the symptoms overlap with other conditions such as obsessive-compulsive disorder (OCD) or attention deficit hyperactivity disorder (ADHD).
  • ASD is a developmental diagnosis. Expression of the syndrome varies with a child’s age and developmental level.
  • Autism can co-exist with conditions such as intellectual disability, seizure disorder, or Down syndrome.
  • Autism is a life-long condition.

The most commonly described areas of concern for children with ASD include:

  • Communication (using and understanding spoken words or signs),
  • Social skills (relating to people and social circumstances),
  • Repetitive body movements or behaviour patterns.

Of course, there is inconsistency in any of these areas in all children, especially during early childhood.

Children who have ASD may or may not exhibit all of these characteristics at any one time nor will they consistently demonstrate their abilities across similar circumstances. Some of the variable characteristics of ASD we have commonly observed in children with DS-ASD include:

  • Unusual response to sensations (especially sounds, lights, touch or pain)
  • Food refusal (preferred textures or tastes)
  • Unusual play with toys and other objects
  • Difficulty with changes in routine or familiar surroundings
  • Little or no meaningful communication
  • Disruptive behaviours (aggression, throwing tantrums, or extreme non-compliance)
  • Hyperactivity, short attention, and impulsivity
  • Self-injurious behaviour (skin picking, head hitting or banging, eye-poking, or biting)
  • Sleep disturbances
  • History of developmental regression (esp. language and social skills)

Sometimes these characteristics are seen in other childhood disorders such as attention deficit hyperactivity disorder or obsessive compulsive disorder.

Sometimes ASD is overlooked or considered inappropriate for a child with Down syndrome due to cognitive impairment. For instance, if a child has a high degree of hyperactivity and impulsivity only the diagnosis of ADHD may be considered. Children with many repetitive behaviours may only be regarded as having stereotypy movement disorder (SMD), which is common in individuals with severe cognitive impairments.

Most parents agree that severe behaviour problems are usually not easily fixed. Finding solutions for behavioural concerns is one reason families seek help from physicians and behaviour specialists. Compared to other groups of children with cognitive impairment, those with Down syndrome, as a group, are less likely to have behavioural or psychiatric disorders. When they do, it is sometimes referred to as having a “dual-diagnosis.” It is important for professionals to consider the possibility of a dual-diagnosis (Down syndrome with a psychiatric condition such as ASD or OCD) because:

  1. It may be responsive to medication or behavioural treatment, and
  2. A formal diagnosis may entitle the child to more specialised and effective educational and intervention services.

If you think your child may have ASD disorder, share this before or during your evaluation. Don’t wait to see what might happen.

Incidence

Estimating the prevalence or occurrence of ASD disorder among children and adults with Down syndrome is difficult. This is partly due to disagreement about diagnostic criteria and incomplete documentation of cases over the years.

Currently, estimates vary between 1 and 10%. I believe that 5-7% is a more accurate estimate. This is substantially higher than is seen in the general population (.04%) and less than other groups of children with intellectual disability (20%).

A review of the literature on this subject since 1979 reveals 36 reports of DS-ASD (24 children and 12 adults). Of the 31 cases that include gender, an astonishing 28 individuals were males. The male-to-female ratio is much higher than the ratio seen for autism in the general population. Additionally, in reports that include cognitive level, most children tested were in the severe range of cognitive impairment.

The impact of a pre-existing medical condition such as Down syndrome on the developing brain is probably a critical factor in the emergence of ASD disorder in a child.

Brain Development and ASD

The development of the brain and how it functions is different in some way in children with DS-ASD than their peers with Down syndrome. Characterising and recording these differences in brain development through detailed evaluation of both groups of children will provide a better understanding of the situation and possible treatments for children with DS-ASD.

A detailed analysis of the brain performed at autopsy or with magnetic resonance imaging (MRI) in children with autism shows involvement of several different regions of the brain:

  • The limbic system, which is important for regulating emotional response, mood and memory,
  • The temporal lobes, which are important for hearing and normal processing of sounds,
  • The cerebellum, which coordinates motor movements and some cognitive operations, and
  • The corpus callosum, which connects the two hemispheres of the cortex together.

At Kennedy Krieger Institute, we have conducted MRI studies of 25 children with DS-ASD. The preliminary results support the notion that the cerebellum and corpus callosum is different in appearance in these children compared to those with Down syndrome alone. We are presently evaluating other areas of the brain, including the limbic system and all major cortical subregions, to look for additional markers that will distinguish children with DS-ASD from their peers with Down syndrome alone.

Brain Chemistry and ASD

The neurochemistry (chemistry of the brain) of autism is far from clear and very likely involves several different chemical systems of the brain. This information provides the basis for medication trials to impact the way the brain works in order to elicit a change in behaviour.

An analysis of neurochemistry in children with ASD alone has consistently identified involvement of at least two systems.

  1. Dopamine: regulates movement, posture, attention, and reward behaviours; and
  2. Serotonin: regulates mood, aggression, sleep, and feeding behaviours.

Additionally, opiates, which regulate mood, reward, responses to stress, and perception of pain, may also be involved in some children.

Detailed studies of brain chemistry in children with DS-ASD have not yet been done. However, our clinical experience in using medications that modulate dopamine, serotonin or both systems has been favorable in some children with DS-ASD.

How Do I Find Out?
OBTAINING AN EVALUATION

If you suspect that your child with Down syndrome has some of the characteristics of ASD or any other condition qualifying as a dual-diagnosis, it is important for him to be seen by someone with sufficient experience evaluating children with cognitive impairment—ideally Down syndrome in particular.

Some of the same symptoms which occur in DS-ASD are also seen in stereotypy movement disorder, major depression, post-traumatic stress disorder, acute adjustment reactions, obsessive-compulsive disorder, anxiety disorder, or when children are exposed to extremely stressful and chaotic events or environments.

Sometimes when children with Down syndrome are experiencing medical problems that are hidden—such as earache, headache, toothache, sinusitis, gastritis, ulcer, pelvic pain, glaucoma, and so on—the situation results in behaviours that may appear “autistic-like” such as self-injury, irritability, or aggressive behaviours. A comprehensive medical history and physical examination is mandatory to rule out other reasons for the behaviour. When cooperation is elusive, sedation or anesthesia may be required. If so, use this “anesthesia time” effectively by scheduling as many specialty examinations as are feasible at one session.

In addition to the medical assessment, you will be asked to help complete a checklist to determine whether or not your child has ASD. I use the Autism Behaviour Checklist (ABC), but there are others that are also used such as the Childhood Autism Rating Scale (CARS) and the Gilliam Autism Rating Scale (GARS). Each of these is completed either in an interview with parents or done by parents before coming to the appointment. They are then scored and considered along with clinical observation to determine if your child has ASD.

OBSTACLES TO DIAGNOSING DS-ASD

Parents sometimes face unnecessary obstacles in seeking help for their children.

This is frustrating for everyone who is actively seeking solutions for a child. If you are in this situation and feel that your concerns are not taken seriously, keep trying. The best advice is to trust your gut feeling regarding your child. Eventually you will find someone willing to look at all the possibilities with you.

LACK OF ACCEPTANCE BY PROFESSIONALS

There is sometimes a lack of acceptance by professionals that ASD can coexist in a child with Down syndrome who has cognitive impairment. They may feel an additional label is not necessary or accurate. Parents may be told, “This is part of ‘low functioning’ Down syndrome.” We now know this is incorrect. Children with DS-ASD are clearly distinguishable from children with Down syndrome alone or those who have Down syndrome and severe cognitive impairment when standardised diagnostic assessment tools are used.

CONFUSION IN PARENTS

Lack of acceptance, understanding, awareness, or agreement on the part of parents or other family members, particularly of very young children, about what’s happening is a major problem.

Parents in this situation may find themselves at odds with each other about the significance of their child’s behaviour and what to do about it. As a result, marriages are stressed, parenting relationships with other children are strained, and life is tough altogether. Unfortunately, I have found that parents in this situation almost universally withdraw from local Down syndrome support groups because “I feel like people think I’m a bad parent because of my daughter’s behaviour.”

Ideally someone in the parent group would recognize this when it is happening and offer additional support instead of watching them withdraw.

What Does It Mean?
BEHAVIOURAL FINDINGS

Obtaining a diagnosis of DS-ASD is rarely helpful in understanding how ASD effects your child. It is complicated by the lack of information available, making it difficult to discern appropriate medical and educational options. To determine what behaviours are most common in DS-ASD we are conducting case-control studies which randomly match (for gender and age) a child with DS-ASD with a child who has Down syndrome without ASD. Through this process we have been able to determine the following:
Children with DS-ASD were more likely to have:

  • History of developmental regression including loss of language and social skills,
  • Poor communication skills (many children had no meaningful speech or signing),
  • Self-injurious and disruptive behaviours (such as skin picking, biting, and head hitting or banging),
  • Repetitive motor behaviours (such as grinding teeth, hand flapping, and rocking),
  • Unusual vocalizations (such as grunting, humming, and throaty noises),
  • Unusual sensory responsiveness (such as spinning, staring at lights, or sensitivity to certain sounds),
  • Feeding problems, (such as food refusal or strong preference for specific textures), and
  • Increased anxiety, irritability, difficulty with transitions, hyperactivity, attention problems, and significant sleep disturbances.

Other observations include:

  • Children with DS-ASD scored significantly higher than their peers with Down syndrome alone on sensory function, social relating, body and object use, language use, and social skills.
  • Children with DS-ASD show less impairment in social relatedness than those with ASD only.
  • Children with DS-ASD show more preoccupation with body movement and object use than children with ASD alone.
  • Children with DS-ASD scored higher on all five subscales of the ABC than children with severe cognitive impairment alone.
  • Among children with Down syndrome only, even those with severe cognitive impairment do not always meet the criteria for ASD.

The conclusion I draw from this data is children DS-ASD are clearly distinguishable from both “typical” children with Down syndrome and those with severe cognitive impairment (including children with Down syndrome). Thus, it is probably incorrect to suggest autistic-like behaviours are entirely due to lower cognitive function. However, the fact that autistic features and lower cognition are associated indicates there is some shared determinant(s) that are common to both features (ASD and lower cognition) of the condition.

What Now?
AFTER THE EVALUATION

If your child has DS-ASD, obtaining the diagnosis or label may be a relief of sorts. The addition of ASD brings new questions. From a medical perspective it is important to consider use of medication, particularly in older children, for specific behaviours. This is especially true if these behaviours interfere with learning or socialisation. While there is no cure or remarkably effective treatment for Down syndrome and autistic spectrum, certain “target behaviours” may be responsive to medication. Some of these behaviours include:

  • Hyperactivity and poor attention,
  • Irritability and anxiety,
  • Sleep disturbance,
  • Explosive behaviours resulting in aggression/disruption (can sometimes be reduced),
  • Rituals and repetitive behaviours (can sometimes be reduced), and
  • Self-injury (can sometimes be reduced).

As you continue to take care of your child, make a point to take care of yourself and your family—in that order. You have a life and a family to consider. Learn to recognize your own difficulties and be honest with yourself and your spouse about the need for help. Counseling and medication may go a long way in helping you to be at your best, for everyone’s sake.

Credit: National Down Syndrome Society (US)

Buzz Lightyear

 

By Fiona Kenworthy, Clinical Director and Specialist Paediatric Speech-Language Therapist at www.smalltalktherapy.co.nz

 

For the last ten years, I’ve specialised in working with children with Down syndrome. I’ve seen the way ‘early intervention’ yields long-lasting benefits for the child and their family. ‘Early intervention’ for children usually means the first five years.  

They are the golden years for setting kids up for how you want them to thrive. 

Here’s my five top tip gems for getting a great start: 

1. Aim high, have fun!  

Research on families with a child who has a sole diagnosis of Down syndrome has found them to have essentially the same quality of life potential as everybody else. 

Adjustments to priorities and routines must be made of course. Have high expectations, seek support from others and have as much fun as you can. Which is pretty much the same for kids everywhere. 

2. Get active early!  

It’s never too late to start speech therapy. But the more time and energy you can invest in the early years, the bigger the pay off. 

Six months of age is a great time to get going. Tap into the critical development periods, when the brain is geared for learning. Get networked in withother families of children with Down syndrome. 

Build genuine partnerships with the right team of skilled, caring professionals who support, inspire and empower you. Put time aside for home practice and courses. And speak up when you need to you know your child better than anyone, so you are their best qualified advocate. 

3. Keep the ear infections at bay!  

Eighty percent of children with Down syndrome are prone to recurrent ear infections. It may sound minor, but hearing impairment has a significant long-term impact on speech and language development, with flow on effects to all areas of life and learning. 

Some children won’t show obvious symptoms. Ask your GP to monitor them regularly. 

4. Have fun with new words every day!  

Whether you sign, say, or act something out, it all adds to your child’s vocabulary. Children with Down syndrome sometimes struggle as they don’t always perceive or recall spoken words. Children who learn to repeat words accurately are better at taking in new vocabulary. And the larger their vocabulary, the better their spoken language and long-term 

communication ability. This also helps set them up for literacy and school. 

5. Attend an SLT Hanen workshop.  

This teaches the basics of human communication – why and how children communicate. Children whose parents use Hanen produce more spoken and/or signed words. 

It’s also great for your relationship with your child. 

Attend a Makaton workshop too. Signing is a useful way to relieve early frustration, teach children the foundations of language, and provide a stepping stone to talking. Sign up for these courses while your little one is between 6-24 months to get the most out of them. 

Every parent will be faced with an avalanche of decisions about their child throughout their life. But taking these first proactive steps will put you and your child in the driving seat.
 

Keratoconus screening programme saves our son’s eyesight

By Karen Nyenkamp

My husband and I own a company that supplies optical equipment to optometrists and hospital. We have always supported the Special Olympics Healthy Eyes programme by donating the equipment they use during the National games.

At the last Special Olympics National games held in Wellington in November 2017, the University of Auckland did a special screening for people with Down Syndrome to test for Keratoconus. We supplied the machine they used for this screening process.

As you may have read in earlier editions of CHAT 21, the University of Auckland are doing a research paper to see if people with DS are more susceptible to getting it.

Our son Max was screened for it then and he did not show any signs of it. However, they did determine that there was a remarkably higher instance of people with DS having it than the general population. They are continuing their research now to see just how prevalent it is in the DS community.

They set up another screening a year later in November 2018 at the Pullman Park Special Olympics Basketball ribbon day. Max was screened again at this event and unfortunately this time he did show signs of Keratoconus.

We immediately contacted Dr Rasha Altaie at the Milford Eye Clinic to discuss Max’s results and she scheduled Max to have a procedure called Crosslinking.

It is basically soaking his corneas in Riboflavin for 30 minutes and then hitting them with a UV light for 20 minutes. This changes the cells in the cornea so that they settle down and don’t become cone shaped.

As you can imagine this would be very difficult for Max to do without going under general anaesthesia.

We visited the Manuaku Super Clinic in January to have Max’s procedure done by Dr Altaie and so far it looks like it is working. He goes back every three months for checkups to make sure.

If it wasn’t for the screening process done, we might not have caught it at such an early stage as most optometrist do not have to equipment necessary to checking for Keratoconus and Max would have had a more invasive procedure done. If left too late a total cornea replacement would be necessary or blindness occurs.

Max after surgery