The STRIVE self-advocacy team had another busy year and even the  lockdown could not stop their work.

STRIVE is a team of people with Down Syndrome who are a members advisory and leadership group who advise and support the New Zealand Down Syndrome Association board, and are ambassadors and advocates for people with Down Syndrome.

Judging by the STRIVE report to the AGM recently, the STRIVE team has developed its skills and influence significantly during 2019-2020.

The team regularly meets for Funshop, which are workshops with different topics, where guest speakers share their expertise with the young ambassadors.

The past year, the meetings covered Research, Advocacy, Writing Reports, Tips for Public Speaking and developing a Succession Plan.

This final subject is particularly important as some of the STRIVE team have been in their role for several years, and may want a change, while it is also important to get new people involved with fresh energy and ideas.

Once Covid 19 started affecting our day to day lives and New Zealand went into lockdown, the STRIVE team started using Zoom meetings.

The group got together on eight occasions between April and June to share their Covid 19 experiences and continue their other work.

Aside from sharing ideas with each other, the group has been very active in the wider community on behalf of the NZDSA.

Andrew Oswin attended the Disability Consumer Consortium in Wellington, Edward Borkin presented to Auckland Timber Industry as well as the Auckland Success in Schools workshops, Erin Smith was a Support Buddy on the Youth Development Camp and Andrew presented at a meeting of Down Syndrome Australia.

The group worked with the Health And Disability Commission on the script for digital resources to help people with disabilities, in which Duncan Armstrong featured as the lead actor.

On the international stage, STRIVE was part of the a feedback group for the Down Syndrome International research on Covid 19, as well being part of a disabled person-led monitoring programme  in Health and Wellbeing by the Donald Beasley Institute.

The STRIVE members have made huge progress as a group but are also proud of the successes they have enjoyed individually.

“On the 13th October 2020 I received and Achievement Award for the outstanding artistic achievement from Arts Access Aotearoa,” said Duncan Armstrong.

“I am taking up a leadership role in the kapa haka group in Invercargill and will be performing alongside other people with Down syndrome from the Invercargill Down Syndrome Group,” said Alexandra Hewitt.

Edward Borkin said will be going flatting which is a goal he has had before he even joined STRIVE, while Caroline Quick is a member of the EGL regional leadership group in Christchurch as one of three disabled representatives.

Caroline is also a member of the Disability Advisory Group for the Christchurch City Council, for which she is paid  a meeting fee.

In the far north,  Erin Smith is a youth leader in the Great Mates Social group.

“I am still a member of the Northlands DSA committee and I continue to enjoy my dance classes.  I have done training workshops at work and I am helping with the induction training at work and doing meet and greets,” says Erin.

Andrew Oswin said he really enjoys being a self-advocate and a member of STRIVE.

“I am happy and privileged and to have made a commitment of service to the Down syndrome community and country of New Zealand.”

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. 

 

We Decide.

That is the message people with Down syndrome want New Zealanders to hear loud and clear.

Far too often people with Down syndrome have their decisions made for them, even when they are very capable of making their own choices.

In many cases they are not consulted over the hundreds of small decisions made each day or even the big, life-changing decisions.

“Those decisions make us who we are, but the reality for many people with Down syndrome is that other people are making small as well as significant decisions for them,” Zandra Vaccarino, National Executive Officer of the New Zealand Down Syndrome Association (NZDSA).

Imagine if someone decided when you get up, what you eat, where you go to school, what you do with your money, who your friends are and even the romances you have. For most of us that would be impossible to imagine but for many people with Down syndrome this is their daily reality.

“Often with best intentions these decisions are made by others, but this year we want to remind all of New Zealand to support people with Down syndrome to make their own decisions,” says Vaccarino.

Saturday, March 21 is World Down Syndrome Day (WDSD) and the NZDSA has launched a special #WeDecide video message from its own members to explain how important it is to make their own choices.

In the clip, Lily talks about becoming an actress, Rachel and Vincenzo talk about getting married, Abigail talks about her career in media while Alec and Jessica proudly explain how they bought a house.

Disability Rights Commissioner Paula Tesoriero highlights that 34.9 per cent of people with Down syndrome are not in education, training or employment and asks New Zealanders to consider how their actions can help change those statistics.

“A child deserves the right to decide what a good life looks like, just like all of us,” says the commissioner.

The #WeDecide video is one of thousands of initiatives and special events around New Zealand and around the world to raise awareness for Down syndrome and to promote the global “We Decide” message.

In New Zealand, local groups have organised gatherings in their own community, but unfortunately some had to be cancelled because of Covid-19.

Hundreds of schools around the country have also embraced the “Odd Socks” campaign in which students wear non-matching socks to demonstrate that we are all different and to fundraise for their local Down syndrome community.

“These events are growing every year and this shows there is an increasing involvement by local schools and communities,” says Vaccarino.

“And of course, World Down Syndrome Day is a special day for our families and whānau to get together, connect and celebrate the amazing feats our people with Down syndrome have achieved.”

 

You can download the video here

 

 

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

 

From sign to word: One size does not fit all.

INTRO:
Early intervention experts Susan Foster-Cohen from the Champion Centre in Christchurch and Anne van Bysterveldt from the University of Canterbury have found some interesting patterns when researching the use of sign language alongside developing speech.

In New Zealand, most children with Down syndrome are explicitly encouraged to use manual signs (either home signs or NZSL signs) as a means to help children communicate and encourage their spoken word development.

The value of this approach is now well established thanks to the work of researchers such as Sue Buckley, Carl Dunst, and others.

However, we still don’t know much about how individual children use their signs and words as they move through early childhood and what parents and teachers need to know in order to encourage the transition to spoken words.

In our research, we have been examining the make-up of children’s vocabularies and how they change over time, because children appear to vary greatly in the degree to which they use signs, both initially and over time.

Some children start out using (almost) exclusively sign and then gradually transition to only using spoken words. Other children stay with sign as their primary means of communication or they operate with a bilingual system where they use both sign and word for the same thing.

We asked parents of children with Down syndrome attending the Champion Centre to complete the New Zealand Communicative Development Inventory (CDI) every six months from the age of two-and-a-half or three to when they went to school.

The CDI has a list of 675 items that are typical of pre-school children’s vocabulary (including words for food, animals, places, people, colours, etc.) and we gave parents the option of indicating whether their child had a sign, a word, both, or neither for each item.

All the children were growing up in spoken language families (i.e. none were using a full sign language).

We were not worried whether the sign was a recognisable NZSL sign or a hand gesture the family had come to recognise as a sign; and we were not worried about whether anyone outside the family could understand either the sign or the child’s version of a word.

We simply took the parents’ perspective on their child’s communication, which they knew so much better than we could ever know as researchers.

We are immensely grateful to the parents for completing this rather tedious task so often as part of our study.

When we looked at the changes over time for each child in the study, we found a number of different patterns which we can illustrate with the graphs below. In these graphs, the green bars show the number of words for which a child used only sign, the blue shows the number for which they used both sign and word, and the red shows the number for which they had only words.

Graph 1

In the first graph you can see data from a child who started early in her transition from sign to word, progressing steadily over the time period from 36 to 66 months, and went on to school using mostly words and just a few signs, most of which had a word equivalent as well.

As a strongly oral language user, this child is likely to be able to use her spoken language in the classroom and to be understood by her classmates and teachers.

She does not, however, have a very large vocabulary overall, as measured by the CDI, having only 234 of the 675 possible items that can be ticked, so we would hope to see her teachers encourage her vocabulary to grow now she has the transition to spoken words sorted.

Graph 2

In the second graph we see a child who has a larger vocabulary at school entry (384 items) and a greater proportion are signs.

It does appear, however, that this child ‘got the hang of’ spoken words somewhat later, fairly shortly before transitioning to school and will be using both sign and word with their teachers and classmates.

Here we would hope that the school welcomes the use of signs and supports what looks like the beginning of a strong transition to spoken words.

Like other researchers before us, we found a range of patterns such as these. In addition to the two patterns shown here, we also found some children who never, or almost never, used sign but who still succeeded in building a spoken vocabulary and children who used only sign and did not succeed in developing spoken words before they went to school. This last pattern only occurred where the overall vocabulary was very small.

However, unlike other researchers, we did not find a minimum of signs was needed before spoken words emerged. Indeed, some children in our study were able to use spoken words as part of even a very small vocabulary.

The important points to take from our work, which we have presented at national and international conferences and are currently writing up for publication, are:

(a) that each child with Down syndrome is an individual and will use signs and words to engage in the key relationships in their lives;
(b) that parents and others should offer and encourage both signs and words when engaging with children, so that the child can take and use what makes the most sense to them; and
(c) that teachers and speech-language therapists should know about the early developmental path of sign to word of each child so that they can support the continued growth of the child’s communication in school and beyond.

We have known for some time now that language development continues throughout childhood, adolescence and into adulthood for people with Down syndrome and that continuing to support that development is vital.

That lifelong trajectory starts with the early years we study at the Champion Centre.

Dr. Susan Foster-Cohen is Director of the Champion Centre and Adjunct Associate Professor of Linguistics at the University of Canterbury.

Dr. Anne van Bysterveldt is a Speech Language Therapist and Senior Lecturer in Early Intervention at the University of Canterbury.  

Child at The Champion Centre