Prenatal Diagnosis of Down Syndrome: Delivering Results in our New Age of Genetic Testing

A webinar version of a presentation by Dr Brian Skotko, Co-director, Down Syndrome Program, Massachusetts General Hospital, 16 December 2016 (62m 17s)

In this presentation, Dr. Brian Skotko reviews the latest advances in prenatal testing for Down syndrome. He further reviews the evidence-based research on how physicians can effectively deliver a prenatal and postnatal diagnosis of Down syndrome. The presentation includes highlights from his publications in Pediatrics, American Journal of Obstetrics and Gynecology, and American Journal of Medical Genetics.

• Brian Skotko's You Tube channel and website

Dr Skotko's approach is congruent with the DSi position statement:

Down Syndrome International: Position Statement on Prenatal Testing

... DSi asserts and defends the right of a woman (or a couple) to information about the human rights and potentialities of children with Down syndrome. 

DSi encourages a balanced and informed approach to the use of prenatal tests by government policies, the professionals involved and all family members. 

DSi contends that voluntary screening should be available to all pregnant women on request and the decision to undergo testing has to be made by the pregnant woman (or couple). 

BUT, that at the time of testing, easily understood information MUST be provided that is up-to-date ...

... This information MUST be provided in an unbiased way by well trained professionals who understand their ethical responsibilities as well as having good communications skills and up-to-date information. At the same time, potential parents should be directed to further sources of information ... read the whole statement here.

TOUCHDOWN 21

TOUCHDOWN21 is a research project.

A research project made by people with Down syndrome, about people with Down Syndrome. 

We collect information. 

We want to look at this topic from many different angles. 

And we want to bring together people who are thinking about this topic.

It started in Germany as a World Down Syndrome Day project, and is based there, but all the website pages are now available in English.

There are stories about people with Down syndrome from around the world, art projects, film, history, information and questions.

The idea of people with Down syndrome researching Down syndrome would have been revolutionary until very recently - TOUCHDOWN21 is worth watching to see where it takes us.

• The original site in German is here.

News and commentary from and about the broader disability community

New research shows role-playing disability promotes distress, discomfort and disinterest
Hiram College, Science Daily, 12 April 2017
Disability simulations often result in feelings of fear, apprehension and pity toward those with disabilities, new research concludes ...

The Ongoing Negotiations of Living Life With a Disability
Rachel Kolb, Pacific Standard, 18 April 2017
The line of thinking often goes like this: Disability is expensive. People with disabilities are in the minority, so costs could be better spent on projects that benefit more people. What’s more, retrofitting spaces and processes for accessibility is a hassle. Whenever accessibility provisions are granted, the person with the disability ought to be profoundly grateful others took the trouble to make it happen. And, anyway, if you’re requesting accessibility services, do you really need them? Couldn’t you just do without?

My Journey with Disability Language and Identity

Andrew Pulrang, Rooted in Rights, 10 April 2017

... The more I thought about it, “identity first” language started to again change how I thought about my disabilities. I stopped worrying about whether or not my disabilities “define” me, and started to embrace the fact that like it or not, I am part of a community, a shared identity. I’m disabled. And I do like it ...

We are failing our most vulnerable even in their own homes

Colleen Pearce, Brisbane Times, 4 April 2017
Just one day after the ABC aired last week's Four Corners investigation into taxpayer-funded group homes for the disabled, my office had a call about an extremely troubling case of violence in a home for people with disabilities in Victoria ...

My Perspective: reminder

Today's reminder is for entries to the 2017 My Perspective Photography Competition, run by the Down's Syndrome Association in London.

Entries close 28 April 2017

Entries are invited from photographers with Down syndrome worldwide.

'Voices from a silent journey': International Journal for Direct Support Professionals

Voices from a silent journey
Melodie Cook, International Journal for Direct Support Professionals, Vol 6, #4, April 2017

... People with intellectual disabilities are often socially withdrawn whether they communicate verbally or not. This has nothing to do with their ability to contribute but has lots to do with our social world which tends to value verbal communication which is fast paced ...

This free Canadian journal is also available in French, and all back issues are available online here. Each issue deals with a single topic.

World Down Syndrome Day media

It is still World Down Syndrome Day in the western hemisphere ... here are some more examples of media attention to the 2017 campaign:

Camille is the light of her workplace

The Morning Show, 21 March 2017

UK photographer Oliver Hellowell aims to demonstrate that 
Down syndrome is something to be celebrated and valued, 
through his poster created for World Down Syndrome Day 2017

World Down Syndrome Day 2017 - #MyVoiceMyCommunity

Down Syndrome International presents a global video journey promoting inclusion of people with Down syndrome. "My Voice, My Community" features videos of people with Down syndrome, among their friends and peers. They talk about how it is important for their voices to be heard, as equal citizens of their countries and they encourage their governments to listen to their concerns.



This is Us - Down Syndrome Ireland, 2017

#World Down Syndrome Day 2017 – Day 21

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

... nine years on, I wish I could go back in time and talk to the terrified mummy I was. I would softly tell myself – it is going to be okay. There is nothing to be scared of. Your daughter will develop her milestones, she will talk and sing, she will have friends, she will love swimming, she will go to mainstream school and be involved in extra-curricular activities, she will have her own personality and talents, she will have a vivid imagination, she will learn independent life skills, and she will bring much joy to your family and others around you. You will love her ... read the whole story here.

Today is World Down Syndrome Day. We hope you have enjoyed the stories and photos we have been sharing as much as we have. Visit this page to see and share all 21 stories.

Want to join the #notspecialneeds campaign for World Down Syndrome Day 2017?

The CoorDown Italy collaborative video 'Not Special Needs' released late last week, has been enthusiastically received around the world, especially for its use of humour to make the point about universal human needs.

Do you have a favourite scene? The guy swaggering down the supermarket aisle in a full suit of armour is popular!

You can join in the #notspecialneeds social media campaign with Down Syndrome Australia, one of the international collaborators:

Write your poster, take a photo of you holding your poster and send it to the DSA Facebook page as a message to share on the Down syndrome Australia website, Facebook and Twitter. 

Here is what you put on your poster:

"I need ..........

Is that special? 

#notspecialneeds"

Visit the DSA Facebook page to see the posters already shared.

#notspecilaneeds ! World Down Syndrome Day video's important message

Starting with Julius

The 2017 World Down Syndrome Day (WDSD17) video campaign created by Publicis NY for CoorDown, Italy and with the participation of other Down syndrome organisations, including Down Syndrome Australia, is a powerful example of how inclusive and authentic representation of people with disability in mainstream media can help change cultural attitudes and assumptions to disability – even subconscious attitudes predicated on the well-meaning euphemism “special needs” ...

Watch the best short movie of the year

Maeriah Nicholl, Living with a Little Moxie, 17 March 2017

#NotSpecialNeeds just came out in time for World Down Syndrome Day and it is my favorite short of 2017.

... Main points from the #NotSpecialNeeds campaign are:

• People with Down syndrome have human needs; not special
• Accommodation for disability isn’t a “special need”
• The words “special needs” segregates, excludes and stigmatizes; it’s not by and for people with disabilities (who largely consider “special needs” to be patronizing and condescending) ...

#World Down Syndrome Day 2017 – Day 20

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

This is Sean, our eight year old son. He is the youngest of our five children and has Down syndrome. He was diagnosed with Down syndrome when I was 20 weeks pregnant and I was scared and anxious about what the future would hold. But since the moment Sean was born he has brought such joy to our lives and I wouldn’t have it any other way ... read the whole story here.

#World Down Syndrome Day 2017 – Day 19

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

‘A Night to Remember Gala Ball’ is an annual event for 150 young people with disability. They enjoy a night where they receive a three course meal, soft drinks, live band and a photo booth. 

The ball is an opportunity to catch up with friends, make new friends, dance and socialise in a fun environment supported by Down Syndrome South Australia staff and volunteers.

This photo is of Ashlea enjoying herself at the ball.

#World Down Syndrome Day 2017 – Day 18

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

My name is Moya. I’m in grade three, going into grade four.

Last year we did a project with our fantastic resident writer, Caylie Jeffery ... It was so much fun coming up with ideas for our stories. I chose my favourite story, the one I dream about every night, ‘My Holiday Home’ ... read the whole story here.

#World Down Syndrome Day 2017 – Day 17

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

My name is Peita and I am 35 years old. I have been in the Down Syndrome NSW Up! Club since it started in 2001. It has been a great social outlet for many young people with Down syndrome. Over the years we have had many wonderful leaders who have organised outings for us such as movies, camps, dinners at the pub and cruise holidays. Next year our leader Flavio hopes to take us to the Melbourne Cup. How exciting that would be! 

Apart from the Up! Club I am involved in two local groups. I am also employed full time and leave home at 7.30 am and return home at 6.00 pm, so life is busy. I have been at my job for 16 years and enjoy it very much. I work with a wonderful group of people and am supported by Jobsupport NSW, so between my work and my social life with family and friends I am very busy ... you can also read Peita's story here.

#World Down Syndrome Day 2017 – Day 16

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

Kingsley is a fun, kind and loving boy who gets along with everyone. He was lucky enough to meet the original Wiggles, who he has been the biggest fan of since he was a baby, on their last ever tour. More recently he has become a huge Minions fan! 

Kingsley has speech dyspraxia which he sees a speech pathologist regularly to work on, as he really struggles with verbal communication. The fact that the Minions don't say many actual words is one of the biggest reasons Kingsley is drawn to them and relates to them so much – that and his love of mischief! ... read the whole story here.

#World Down Syndrome Day 2017 – Day 15

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

When Sam was born, 18 years ago to be exact, I felt as if it was a complete disaster. That my life as I knew it had ended and it was going to be utter misery from now on. My family are all in England and I only knew one person here who had a child with a disability. I felt incredibly alone. 

... On the weekend we celebrated Sam’s 18th with a party of over 80 people. I was able to tell our friends and family that, yes, when Sam was born I was devastated. I wish that I had known then what I know now – happiness in spades. And I must admit there were lots of tears, surprise and laughter when I spoke about our journey with Sam which all started with him arriving in the back seat of the car! ... read the whole story here.

Special Olympics Winter Games 2017, Austria: Meet Team Australia

Good luck to all the athletes, including those with Down syndrome,  representing Australia at the Special Olympics Winter Games in Austria over the next two weeks - information from the Special Olympics Australia website:

The Special Olympics World Winter Games will be held in Austria from 14-25 March 2017 where 3,000 athletes with an intellectual disability from 117 nations will compete across nine wintersports disciplines: Alpine skiing, figure skating, floor ball, floor hockey, Nordic skiing, snow shoeing, snowboarding, speed skating and stick shooting, with floor hockey and floor ball having the most participants.

Australia will be represented by 12 athletes who will compete across two disciplines: Alpine skiing and snowboarding. They will be supported by five volunteer officials and cheered on by a small group of families and supporters at the Games and many more at home via social media. 

This will be only the second-time that Australian athletes have competed in snowsports at a World Winter Games. 

Meet Team Australia

You can send a message of support here

Quick facts and links from the team Australia Infographic

Team Australia departs for 2017 Winter Games -  Stephanie Brantz interviews Team Australia as they prepare to depart for Austria, ESPN Australia/New Zealand, 13 March 2017

#World Down Syndrome Day 2017 – Day 14

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

Ruth is a 20 year old woman with Down syndrome who has always enjoyed spending time with children. For the past year she has been working part-time at a child care centre in Queensland. She loves playing with the children but also keeping the centre clean and tidy. One of her favourite jobs is changing nappies. Ruth is in open-employment and paid the award-rate ... read the whole story here.

#World Down Syndrome Day 2017 – Day 13

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

Andy is 21 years old and lives with his family. With the support of NDIS funding he has a very fulfilling life. His week is made up of various activities that he chooses himself and negotiates with his support workers. 

Andy’s family has set up a small business making and selling preserves at local farmer’s markets. His role includes counting and setting up the jars for sterilising, packing boxes for markets and helping pack and unpack the car and market stall.

His primary passion in life is basketball and his favourite job is volunteering at his local basketball association every Wednesday afternoon ... read the whole story here.

#World Down Syndrome Day 2017 – Day 12

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

Josie is a 19 year old artist from Sydney. She left school at the end of 2013 to begin a Certificate in Basic Vocational Skills through TAFE NSW and take part in other courses through a local community college. 

Looking to fill up some extra hours, Josie also enrolled in a mainstream painting and drawing class at a local regional art gallery. She was hesitant about taking on this class as she hadn’t been very interested in painting or drawing in the past. When her tutor gave her a photo of a landscape to draw, she created a very good reproduction. Josie’s untapped talent was uncovered much to everyone’s surprise and delight ... read the whole story here.

#World Down Syndrome Day 2017 – Day 11

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

Michael is Chair of NSW Council for Intellectual Disability, on the NDIA Intellectual Disability Reference Group, a member of an Australia wide advocacy group OUR VOICE, and has recently been appointed the University of New South Wales Ambassador for Healthy Aging. 

He is a staunch self-advocate, wonderfully articulate, an excellent role model and an ambassador for giving people with Down syndrome a voice.My work as a self-advocate

I am person with Down syndrome and a self-advocate. When I advocate for myself I am also advocating for others. When I am up there delivering my talk, I take a minute for a quick reflection – I think “I am not just here for myself” and then I go in to my talk ... read the whole story here.

#World Down Syndrome Day 2017 – Day 10

This year Down Syndrome Australia is celebrating #MyVoiceMyCommunity with the international Down syndrome community. Join us as we count down to  21 March with 21 stories of inclusion and personal success.

Although we have been through so many challenges with Jacob, our son with Down syndrome, he is always the light at the end of our tunnel. He is always the smile that keeps us singing through the hard times.

By the time he was one year old he had fought through life threatening infections, open heart surgery and even a dangerous medication overdose. When he was two and a half he learned to walk in the hospital corridors while his baby sister was being born ...  read the whole story here.