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.

Research news #5 for 2017

Research Opportunity: The Perspective and Experiences of Families Raising a Child with a Genetic Condition

Down Syndrome Australia Quarterly Newsletter, June 2017 

While there is research documenting the challenges of raising a child with a genetic condition, there is very little investigating the positive aspects. 

This study by researchers at the Australian Catholic University aims to explore what opportunities and rewards are experienced by having a family member with Down syndrome and what impact having a family member with Down syndrome had on the lives of family members. 

Importantly, the study hopes to capture the perspective of parents, grandparents and siblings of an individual with Down syndrome. Family members are encouraged to share stories, anecdotes and perspectives via an online questionnaire. 

It is anticipated responding to the questions will require about 30 minutes. These surveys are anonymous, and participants aged 12-18 will be assisted to provide parental consent.
Family members who are interested in participating can email Rebecca Bobin at rebecca.bobin@myacu.edu.au for more information or click on the link to obtain a participant information statement. 

• Please follow this link to the survey.

Clinical trial investigates Alzheimer's disease drug in people with Down syndrome

Science News Online, 1 June 2017

A phase 2 clinical trial in young adults with Down syndrome of a drug being investigated for the treatment of Alzheimer's disease supports further investigation of its potential. Results of the four-week trial of scyllo-inositol, also known as ELND005, have been published in the Journal of Alzheimer's Disease. 

"Through this study, members of the Down syndrome community have demonstrated loudly and clearly that they are eager to participate in clinical trials, particularly studies that provide promise for the treatment of Alzheimer's disease," says Brian Skotko, MD, MPP, co-director of the Massachusetts General Hospital (MGH) Down Syndrome Program, and a site principal investigator for the trial. "This first, industry-sponsored phase 2 trial in the Down syndrome community showed that people with Down syndrome were able to follow the study protocol and that the drug was safe and tolerable" ...

• The abstract is available free online. Access to the full text of the research report requires purchase:

Michael Rafii et al, A Randomized Double-Blind, Placebo-Controlled, Phase II Study of Oral ELND005 (scyllo-Inositol) in Young Adults with Down Syndrome without Dementia, Journal of Alzheimer's Disease, vol. 58, no. 2, pp. 401-411, 2017

Research news and commentary #4 for 2017

Down Syndrome Research Forum 2017, UK (posted yesterday)

For people with Down syndrome, varying test results can make it harder to get the right vision prescription

Eureka Alert, 4 May 2017 -

Even objective, automated vision testing--using a device called an autorefractor--gives variable results in patients with Down syndrome, reports a study in the May issue of Optometry and Vision Science, the official journal of the American Academy of Optometry ...

• The full text of the research report is available free online

The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects
Jamie O. Edgin, American Journal on Intellectual and Developmental Disabilities, May 2017
Abstract

A multisite study investigated the test-retest reliability and practice effects of a battery of assessments to measure neurocognitive function in individuals with Down syndrome (DS). The study aimed to establish the appropriateness of these measures as potential endpoints for clinical trials. Neurocognitive tasks and parent report measures comprising the Arizona Cognitive Test Battery (ACTB) were administered to 54 young participants with DS (7–20 years of age) with mild to moderate levels of intellectual disability in an initial baseline evaluation and a follow-up assessment 3 months later. Although revisions to ACTB measures are indicated, results demonstrate adequate levels of reliability and resistance to practice effects for some measures. The ACTB offers viable options for repeated testing of memory, motor planning, behavioral regulation, and attention. Alternative measures of executive functioning are required.

Article Citation:

Jamie O. Edgin, Payal Anand, Tracie Rosser, Elizabeth I. Pierpont, Carlos Figueroa, Debra Hamilton, Lillie Huddleston, Gina Mason, Goffredina Spanò, Lisa Toole, Mina Nguyen-Driver, George Capone, Leonard Abbeduto, Cheryl Maslen, Roger H. Reeves, and Stephanie Sherman (2017) The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects. American Journal on Intellectual and Developmental Disabilities: May 2017, Vol. 122, No. 3, pp. 215-234.

• Abstract online, full text available for purchase 

Outcome Measures for Clinical Trials in Down Syndrome

Anna J. Esbensen et al, American Journal on Intellectual and Developmental Disabilities, May 2017

Abstract

Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health (NIH) assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This article focuses on measures in the areas of cognition and behavior.

Article Citation:

Anna J. Esbensen, Stephen R. Hooper, Deborah Fidler, Sigan L. Hartley, Jamie Edgin, Xavier Liogier d'Ardhuy, George Capone, Frances A. Conners, Carolyn B. Mervis, Leonard Abbeduto, Michael Rafii, Sharon J. Krinsky-McHale, Tiina Urv, and Outcome Measures Working Group (2017) Outcome Measures for Clinical Trials in Down Syndrome. American Journal on Intellectual and Developmental Disabilities: May 2017, Vol. 122, No. 3, pp. 247-281.

• Abstract online, full text available for purchase

New research shows role-playing disability promotes distress, discomfort and disinterest

Science Daily, 11 April 2017

... a recent study published by Michelle Nario-Redmond, Ph.D., professor of psychology, reveals that disability simulations often result in feelings of fear, apprehension and pity toward those with disabilities, proving Nario-Redmond's thesis that disability simulations do more harm than good ...

• Abstract online: Michelle R. Nario-Redmond, Dobromir Gospodinov, Angela Cobb. Crip for a Day: The Unintended Negative Consequences of Disability Simulations, Rehabilitation Psychology, 2017

New Clinical Trial of Alzheimer's disease vaccine for people with Down syndrome

Most of our readers will not qualify to participate in this study, but will be interested that it is being done:

We are launching a new clinical study for people with Down syndrome that will test the safety and tolerability of an investigational vaccine which might delay the onset of Alzheimer’s disease-related cognitive decline.

Since individuals with Down syndrome develop Alzheimer’s at a much higher rate than the general population, this study will test whether an investigational vaccine can affect Alzheimer’s-related brain changes in people with Down syndrome. This is the world’s first clinical trial to test an anti-amyloid vaccine for possible treatment of Alzheimer’s disease in people with Down syndrome  25 to 45 years of age. 

The study is a randomized, placebo-controlled, double-blinded Phase I study. Study participants will be randomly given either the active investigational vaccine or a non-active placebo. The study will last 24 months. 

For more information please visit www.massgeneral.org/downsyndromeresearch.

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.

Research news and commentary #3 for 2017

• The Inclusive Research Network is looking for new members (reposted from 29 March 2017)

Urine test may be able to diagnose obstructive sleep apnea in children with Down Syndrome

 Massachusetts General Hospital, 7 April 2017

A study from Massachusetts General Hospital (MGH) investigators raises the possibility of identifying children with Down syndrome who may also have obstructive sleep apnea (OSA) without the need for expensive and inconvenient sleep studies ...

• Ibrahim Elsharkawi et al, Urinary Biomarkers and Obstructive Sleep Apnea in Patients with Down Syndrome, Sleep Medicine, abstract published online 7 March 2017
• The abstract is available to read online without charge. The full text of the original study report is available for purchase online.

Case Western Reserve University Researchers Turn Urine into Research Tools

Case Western Reserve University School of Medicine, 28 March 2017

One of the biggest challenges in studying Down syndrome is finding the right research model. Animals and established cell lines are limited in their ability to mimic human disease, and results don’t always translate to patient populations. Stem cells hold enormous potential as research tools that can be collected directly from patients and grown into innumerable cell types. But harvesting stem cells can be tricky and invasive—a tough sell to institutional review boards when dealing with children or patients with intellectual disability.

Now, researchers from Case Western Reserve University School of Medicine have developed a breakthrough technique to harvest cells directly from urine, and grow them into durable, clinically relevant stem cells to study Down syndrome ...
Crnic scientists publish groundbreaking leukemia research in the journal 'Cell’

Global Down Syndrome Foundation, February 2017

Nationally renowned Crnic scientists, Dr. Joaquin Espinosa— the associate director for science at the Linda Crnic Institute for Down Syndrome, a Global affiliate— and Dr. Kelly Sullivan, teamed up with Northwestern University scientists and published findings that can lead to novel therapeutic approaches for the treatment of a specific subset of leukemias ..

My Friend Lovey (15m 21s audio file)
Mary-Ann Allen, Global Down Syndrome Foundation/Story Collider, July 2016
Mary Ann Allen is a Sie post-doctoral fellow at the Crnic Institute for Down Syndrome— a Global affiliate. In this 15 minute story Allen takes listeners through the journey that led her to studying Down syndrome today. The researcher shares how she was mainly inspired by her childhood friend, Lovey, who has Down syndrome. When the opportunity to study Down syndrome crossed Allen’s path a couple years back she said she jumped at the chance because she “loved Lovey.” But, once Allen started her research what she discovered wasn’t was she was expecting.

Inclusive Research Network is looking for new members

The Centre for Disability Studies at Sydney University is calling for new members of the Inclusive Research Network:

Inclusive Research is about people with intellectual disabilities doing research, not having research done on them. 

Our motto is “Nothing about us without us.”

Are you a person with an intellectual disability who has ideas or thoughts about what’s important? 

We are the CDS Inclusive Research Network! 

We are looking for new members, and we meet once a month at CDS, Camperdown.

• See more details here.

Health matters

Twenty Things I Want My Health Care Provider to Know

A series of videos from the Adult Down Syndrome Center, published on their Facebook page. The quickest way to reach them is via this link, or via the 'Videos' tab in the left column of the ADSC home page :

 Before We Get Started - published October 2016. A 'welcome to the series', includes a brief history of the Adult Down Syndrome Center. (3m 6s)

It Is More Than Just Language - published 13 February 2017. It is about language but it is also a philosophy on interacting with people with Down syndrome. (1 m 10s) 

Common Characteristics of People with Down Syndrome - published 16 February 2017. All is not Down syndrome. (3m 33s) 

Life Expectancy and Two Syndromes - published 19 February 2017. People with Down syndrome are living much longer than in the past and despite the same genetics from years ago, the lives of people with Down syndrome look much different than they did in the past. (7 m)

• More health related information and resources are available from the Adult Down Syndrome Center's website. 

Keratoconus and Down’s syndrome

Stephanie Campbell, Down's Syndrome Association (London), 3 January 2017
Keratoconus is a condition in which the cornea, the transparent ‘window’ at the front of the eye, grows abnormally thin and into a cone shape, causing distorted vision.

... Until recently, there was no treatment for early stages of keratoconus, and nothing to be done about it until vision was affected, when contact lenses can be a real help. In cases of severe progression, scarring of the cornea meant that a corneal transplant was the only means of providing reasonable vision.

Now, there is a new treatment becoming available, called collagen cross-linkage therapy that can halt the progress of the abnormal growth and prevent sight deteriorating ...

• Keratoconus and Down’s syndrome: Rachel’s story,  DSA (UK), 27 January 2017

Lack of Specialist Clinicians Failing Australians with an Intellectual Disability
Simon Wardale, Probono News, 3 October 2016
Bluntly speaking, complex and challenging behaviours are not very well understood, even within the disability sector, and that situation is borne out by the training – or lack thereof – available for Australian practitioners ...

Jackson Lab Helping 11-Year-Old With Rare Disease In Search For Cure

Stephen Singer, Hartford Courant, 3 January 2017
... At age 4, Talia Duff, who was born with Down syndrome, began to slowly lose motor milestones that were hard to achieve initially. Doctors believed her motor skills were delayed because of her Down syndrome ...

Research news and commentary #2 for 2017

Model assessment may predict obstructive sleep apnea in children with Down syndrome

Massachusetts General Hospital, 26 January 2017

Simplified screening as part of primary care visit could reduce need for complicated, uncomfortable sleep studies. 

A combination of parental questionnaires and inexpensive diagnostic procedures that can be performed as part of a primary care visit may be able to rule out the presence of obstructive sleep apnea in people with Down syndrome. If validated in a future study currently in progress, this assessment – developed by a team led by a MassGeneral Hospital for Children (MGHfC) physician – may be able to greatly reduce the need for sleep studies, which can be expensive and inconvenient for patients and their families ...

Interview with Dr Brian Skotko about the study:

In-Office Exam May Rule Out Sleep Apnea in Kids with Down Syndrome
Salynn Boyle, MedPage Today, 27 January 2017

... Skotko said that he knows the importance of diagnosing and treating Down syndrome-related OSA from both professional and personal experience.
His sister Kristin, who has Down syndrome, was successfully treated for OSA with a tonsillectomy as a child, but the sleep disorder recurred when she got older. She is now 36, and her OSA is again being successfully treated ...

Research report:

A predictive model for obstructive sleep apnea and Downsyndrome
Brian Skotko et al, American Journal of Medical Genetics,  2017; 9999: 1–8

Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1–4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this study was to construct a tool to identify individuals with DS unlikely to have moderate or severe sleep OSA and in whom sleep studies might offer little benefit ...

Cause of death and potentially avoidable deaths in Australian adults with intellectual disability using retrospective linked data 

Julian Trollor, Preeyaporn Srasuebkul, Han Xu, Sophie Howlett, BMJ Open, 7 February 2017 

• This study is also linked in today's earlier post with links to media reports

Clinic claims it has used stem cells to treat Down’s syndrome

Andy Coghlan, New Scientist, 1 February 2017
A clinic claims it has used stem cells to treat Down’s syndrome in up to 14 people. “As far as we know, it’s the first time that stem cells have been used to treat Down’s syndrome,” says Jyoti Titus, manager at Nutech Mediworld clinic in New Delhi, India.

The announcement has set alarm bells ringing. It’s not clear to independent stem cell or Down’s experts how stem cells – which can form many types of tissue – might treat Down’s ...

Preventable deaths of people with intellectual disability in Australia: research, media, petition to government

People with intellectual disabilities twice as likely to suffer preventable death, study finds

Elise Worthington, ABC News, 8 February 2017

... Research released in the medical journal BMJ Open on Wednesday reveals a disturbing pattern of unnecessary deaths in the Australian health system. 

Researchers at UNSW found people with an intellectual disability are twice as likely to suffer a potentially avoidable death compared to the general population. 

"We found that one in three deaths in people with an intellectual disability was from a potentially avoidable cause," psychiatrist and lead author Julian Trollor told 7.30 ...

• 7.30,  ABC TV, 8 February 2017 (8m 42s video, transcript)

Why people with intellectual disabilities are dying avoidable deaths

Kate Aubusson, Sydney Morning Herald, 8 February 2017

Professor Julian Trollor first noticed something was amiss when he was trawling through death certificate data for people with intellectual disabilities. Over and over again the underlying cause of death was listed as the disability itself, regardless of whether the patient had died of an infection, cancer or a heart attack.

"I thought, this just doesn't seem right," Professor Trollor said. A person with down syndrome who died of respiratory failure caused by pneumonia would likely have their underlying cause of death coded as down syndrome in population records. 

"Down syndrome itself doesn't cause the death. Anyone else in that scenario would have their underlying cause of death coded as pneumonia ...

The needless deaths of people with intellectual disability must be urgently addressed

Professor John McMillan and Steve Kinmond, ABC News, 9 February 2017

... we recognise that the experience of people with intellectual disability in NSW is not unique.

We are keen to see a national effort to close the gap in the disparity in health outcomes between people with intellectual disability and the general population. The National Disability Strategy — and strong governance arrangements for the implementation of the strategy in states and territories — provides a useful mechanism.
It is simply unacceptable that people with intellectual disability in our community are dying from preventable causes at over twice the rate as other Australians. We must close this gap.

• Professor John McMillan is the acting NSW Ombudsman. Steve Kinmond is the Deputy Ombudsman.

Research report - the full text of the report is available online, without charge:

... Adults with ID experience premature mortality and over-representation of potentially avoidable deaths. A national system of reporting of deaths in adults with ID is required. Inclusion in health policy and services development and in health promotion programmes is urgently required to address premature deaths and health inequalities for adults with ID.

Cause of death and potentially avoidable deaths in Australian 
adults with intellectual disability using retrospective linked data 
Julian Trollor, Preeyaporn Srasuebkul, Han Xu, Sophie Howlett 

BMJ Open, 7 February 2017 

NSW Council for Intellectual Disability - petition to the NSW government

... NSW Council for Intellectual Disability is calling for proper investment in the health of people with intellectual disability so that we can end the terrible number of Australians with intellectual disability dying from preventable illness. 

We need the NSW State Government to commit $50 million per year for 10 years to put an end to the high numbers of preventable deaths for people with intellectual disability in NSW ...

Free webinar series: Stepping Stones Triple P

Are you a parent / carer of a child with Down syndrome? 

As part of the Stepping Stones Triple P Project, Down Syndrome NSW invites all parents of children with Down syndrome aged 2 to 12 to attend the following FREE parenting webinar series: 

Seminar 1: Positive Parenting for Children With a Disability 

Positive parenting is an effective approach to raising children that emphasises the positive. It involves creating a family environment that is loving, supportive and predictable. This is important in raising healthy, well-adjusted children who will reach their potential and have rewarding relationships with others. Positive parenting reduces the stress of parenting and makes it more enriching and enjoyable.

Wednesday 8th of March 2017, 12pm - 1.30pm

Seminar 2: Helping Your Child Reach Their Potential 

All children need to develop skills to help them become independent, to get on with others and to reach their potential. While children can pick up some skills simply by watching others, children with disabilities often need a more structured approach. This seminar focuses on how to teach children important new skills and behaviours by following six key steps.

Wednesday 15th of March 2017, 12pm - 1.30pm

Seminar 3: Changing Problem Behaviour into Positive Behaviour 

Children with disabilities are more at risk than others of developing problem behaviours. These behaviours can interfere with their growth and development and can be disruptive for the family as a whole. This seminar provides ideas on understanding why a particular behaviour is occurring and practical suggestions for how to promote alternative behaviour.

Wednesday 22nd of March 2017, 12pm - 1.30pm

Seminars will be delivered online, via Webinar so that they can be viewed by parents and carers across Australia.

More information and instructions for how to access the Webinar will be provided once you register for the seminars.

RSVP by 7th March 2017: As these programs are being funded as part of a research project please contact the research team to register your interest:

Phone: 02 9114 4060
Email: fhs.Steppingstones@sydney.edu.au

Research #1 for 2017

Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls

Jennifer Shinae Jennings and Ahmad Salehi, News-Medical, 13 january 2016
... new non-invasive prenatal testing methods ... offer an unprecedented opportunity for early treatment of brain abnormalities in DS. Currently, no therapy is available for cognitive dysfunction in DS and a recent clinical trial targeting a specific brain system in DS has not been very promising ...

• Common Pathogenic Mechanisms between Down Syndrome and Alzheimer's Disease: Steps toward Therapy - the recent book referred to in the article above, volume one in a series,  Recent Advances in Alzheimer Research. Each chapter of this volume can be purchased separately as an ebook.

Do children with Down syndrome need modified chemo for leukemia? No, says study

Vector (Boston Children's Hospital), 11 January 2016

Clinicians have long known that children with Down syndrome carry an elevated risk of developing acute lymphoblastic leukemia (ALL), the most common pediatric cancer. Research consistently shows that children with Down syndrome are more likely to suffer complications from chemotherapy. At the same time, some studies have suggested that children with Down syndrome and ALL may have a higher chance of relapsing.

What to do with this knowledge has been a source of controversy. Should patients with ALL and Down syndrome receive treatment modified to minimize toxicity from chemotherapy? Or should they be given the same treatment as other children with ALL to minimize the chance for relapse?

Research to Action Fact Sheets

NSWCID eNews, December 2016

The Centre for Applied Disability Research is making evidence about disability accessible with their research to action guides.

Current Guides:

• A Sustainable Rural and Remote Workforce for Disability - this R2A Guide articulates the key components of rural and remote workforce development in Australia, as presented by the existing research evidence. 
• Working collaboratively at the interface of disability and health services - this R2A Guide is intended to assist health and disability practitioners to understand the issues related to working at the interface of their sectors, to support people with disability and achieve the best possible outcomes

Medical care of a child with Down syndrome probably not a financial burden for most families

Massachusetts General Hospital, 14 December 2016
The first study to analyze the out-of-pocket costs to families for the medical care of children and adolescents with Down syndrome finds that monthly costs – averaged over the first 18 years of life – are less than $100 a month more than the costs for care of a typically developing child. The report published in American Journal of Medical Genetics, Part A also finds that the additional costs are lower when the child is older ...

New Study Identifies Which Physical Features Are Best Indicators of Down Syndrome in Diverse Populations

(US) Children's National Health System, 19 December 2016

Physical features vary in patients with Down syndrome across diverse populations, according to a large international study published in the January 2017 issue of the American Journal of Medical Genetics. The study, led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, used an objective digital facial analysis technology developed by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System to identify the most relevant facial features characteristic in Down syndrome in diverse populations from 12 countries. This NHGRI study is the first to compare and contrast Down syndrome across diverse populations ...

• Down syndrome in diverse populations - the full text of the original study report is available online without charge

Pain and Cognitive Functioning in Adults with Down Syndrome
Nanda C. de Knegt et al, Pain Medicine, 29 Deceber 2016 (advance publication)
The aim of the present study was to examine whether cognitive functioning (i.e., memory and executive functioning) is related to self-reported presence of pain ...

Conclusions. Memory seems to be related to the self-reported presence of pain in adults with DS after explicit inquiry, although the clinical use of this model is yet limited. Therefore, further research is needed for insight into the role of cognitive processes in self-report ... to evaluate whether neuropsychological examination could contribute to pain assessment in DS.

• The abstract is available to read online without charge. The full text of the original study report is available for purchase online.

Research news and commentary #12 for 2016

Culture in Better Group Homes for People With Intellectual Disability at Severe Levels

Christine Bigby and Julie Beadle-Brown, Intellectual and Developmental Disabilities: October 2016, Vol. 54, No. 5, pp. 316-331.

Building on cultural dimensions of underperforming group homes this study analyses culture in better performing services. In depth qualitative case studies were conducted in 3 better group homes using participant observation and interviews. The culture in these homes, reflected in patterns of staff practice and talk, as well as artefacts differed from that found in underperforming services ...

• The full text is available without charge online.
• Note that this article builds on two earlier articles about culture in group homes, cited in this article.

 Do Equine-assisted Physical Activities Help to Develop Gross Motor Skills in Children with the Down Syndrome? Short-term Results
Sergiy Voznesenskiyet al, Procedia - Social and Behavioral Sciences, Volume 233, 17 October 2016, Page 508

Background. Equine-assisted physical activities are believed to improve the physical, psychological, and social wellbeing of special needs populations. Methods. A study was conducted to assess the effect of an equine-assisted physical activity and an adaptive horseback riding program in comparison with conventional adapted physical education designed to develop gross motor skills measured by the Gross Motor Function Measure (GMFM-88) in children with Down syndrome in a special education institution ...

• The full text is available without charge online, under a Creative Commons Licence.

Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process

Blake Murdoch et al, Journal of Obstetrics and Gynaecology Canada,

Non-invasive prenatal testing (NIPT) is an exciting technology with the potential to provide a variety of clinical benefits, including a reduction in miscarriages, via a decline in invasive testing. However, there is also concern that the economic and near-future clinical benefits of NIPT have been overstated and the potential limitations and harms underplayed. NIPT, therefore, presents an opportunity to explore the ways in which a range of social pressures and policies can influence the translation, implementation, and use of a health care innovation ...

• The full text available without charge online 

Assessing health needs of children with intellectual disabilities: a formative evaluation of a pilot service

Jacqueline Milne, et al, Research and Practice in Intellectual and Developmental Disabilities, Published online: 18 May 2016

Children and adolescents with intellectual disabilities commonly have unmet complex health needs. Their parents often experience barriers in locating and accessing services to assist in diagnosing and managing those needs. In response to this service gap, a pilot Paediatric Assessment Clinic was established under the auspices of a large paediatric hospital, to offer a comprehensive disability health service for children aged 6 to 18 years with intellectual disabilities and complex health needs ...

• Unpacking complex health needs. Commentary on 'Assessing health needs of children with intellectual disabilities: a formative evaluation of a pilot service' (Milne, Johnson, Lord, Ong, Tomsic and Silove, 2016), Teresa Iacono, Research And Practice In Intellectual And Developmental Disabilities, Published online: 18 July 2016

Together

Cambridge Intellectual and Developmental Disabilities Research Group, Cambridge University, 17 May 2016
A group of Cambridge University researchers have made a film alongside people with Down’s syndrome to show that there is only one way we can defeat dementia; Together. Researchers from the Cambridge Intellectual and Developmental Disabilities Research Group (CIDDRG) have been investigating the links between Down’s syndrome and dementia for almost two decades. Most recently, they have focused their efforts on using state of the art imaging techniques to look at the brains and the eyes of people with Down’s syndrome in the hope of finding a biomarker for Alzheimer’s disease ...

Predicting and Preventing Leukaemia in Children with Down Syndrome: The PreP 21 Study

The Board of Down Syndrome NSW supports participation in this research project, coordinated by Sally Byatt at Sydney Children's Hospital, Randwick:

The Kids Cancer Centre at the Sydney Children’s Hospital Randwick in NSW is currently running an exciting new Australian study called Predicting and Preventing Leukaemia in Children with Down Syndrome (The PreP 21 Study).

The aim of The PreP 21 Study is to devise a method of predicting which children will later develop leukaemia. If successful, this study may form the basis for a later therapeutic trial to prevent babies with Down syndrome developing leukaemia, with enormous potential impact on the many other types of child cancer which have a prenatal origin.

The researchers would like to invite children in NSW with Down syndrome between the ages of 0 – 2 (from birth up to the third birthday) to have the chance to take part in the study. Participants will be followed up until the age of 4 years.

It is anticipated that the study will become available for ACT residents in the near future.

If you are interested in having your child take part in The PreP 21 Study or would like further information, please contact the study by:

Telephone: 0410 346 294
Email the Study Co-ordinator, Ms Sally Byatt: sallyanne.byatt@health.nsw.gov.au
Or visit the study website

Going to hospital: share your experience for research

NSW Council on Intellectual Disability is doing research for the NSW Government that you might like to take part in:

The NSW Government has asked us to interview people with intellectual disability who live in group homes about their experience being in hospital. 

Participants will be given a $75 gift card for their time. Lunch will be provided. We can interview the person where they live or at a place suitable to them. 

We can pay for the cost of a support worker identified by the participant if they request one to be present during the interviews. 

Click here to download the easy read information sheet.

Research news and commentary #11 for 2016

Down syndrome mystery solved

Emma Gallimore, AMI Newswire, 26 September 2016
Scientists may be one step closer to understanding the mechanisms behind Down syndrome, according to a study published in eLife ... The study found that cells with trisomy 21 continuously act as though they are fighting an infection even when no infection is present ...

Study: Use CDC BMI charts when screening children with Down syndrome for obesity

Melissa Jenco, American Academy of Pediatrics, 14 September 2016
Pediatricians screening adolescents with Down syndrome for excess body fat should use the Centers for Disease Control and Prevention’s (CDC’s) standard body mass index (BMI) charts, according to a new study ...

• Body Composition and BMI Growth Charts in Children With Down Syndrome, Jacquelyn A. Hatch-Stein et al, Pediatrics, September 2016
• The abstract is free online, access to the full text of the article requires purchase.

Intellectual disability and Down Syndrome – common genetics?

Harry Perkins Institute of Medical Research, University of Western Australia, 22 July 2016
An investigation which aimed to understand the genetic basis for Down Syndrome has led to the identification of a gene which controls the formation of neural circuits in the brain.

New research led by Associate Professor Julian Heng, Head of the Brain Growth and Disease Laboratory at the Harry Perkins Institute of Medical Research, has identified a genetic factor which could be significant for intellectual disability as well as Down Syndrome ...

These findings were recently published in the Nature press journal, Scientific Reports:

• Li, S. S. et al. The HSA21 gene EURL/C21ORF91controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome. Sci. Rep. 6, 29514; doi: 10.1038/srep29514 (2016)
• The full text of the article is available free online

Literature review on managing dementia
See this recent post to link to Challenges faced in managing dementia in Alzheimer’s disease in patients with Down syndrome - a literature review aimed to look at the management of DAD (dementia in Alzheimer's disease) in people with Down syndrome. 

Research news and commentary #10 for 2016

Global DS Foundation funds research showing impact of trisomy 21 on interferon signaling
8 September 2016

The Global Down Syndrome Foundation has funded a landmark study led by renowned scientist, Dr. Joaquín Espinosa, Associate Director for Science at the Linda Crnic Institute for Down Syndrome. The results of the study were published online by eLife, an open-access life sciences and biomedical research journal ...

The full text of the research paper is available by free access on eLife:

• Trisomy 21 consistently activates the interferon response

Down's syndrome as a risk factor for severe lower respiratory tract infection due to RSV

Galleguillos C et al, Acta Paediatrica, 18 August 2016 (Epub ahead of print)
Aim: To compare the clinical characteristics of children with and without Down's syndrome hospitalized due to respiratory syncytial virus (RSV).

... Conclusion: Children with Down's syndrome hospitalized due to RSV LRTI, have a longer hospital stay and worse clinical course than children without. Our findings support the need of RSV prevention in children with Down's syndrome, especially in children younger than one year. 

• The abstract is free online, access to the full text of the article requires purchase. To date, 'this article has been accepted for publication and undergone full peer review but has not been through (the final editing process), which may lead to differences between this version and the Version of Record.' 

Communication intervention for individuals with Down syndrome: Systematic review and meta-analysis
Nicole Neil and Emily A. Jones, Developmental Neurorehabilitation, Published online: 18 August 2016
Objective: A systematic review was conducted to identify effective intervention strategies for communication in individuals with Down syndrome ...

... Conclusion: The results suggest that behavior analytic strategies are a promising approach, and future research should focus on replicating the effects of these interventions with greater methodological rigor.

• The abstract is free online, access to the full text of the article requires purchase. 

http://www.jaad.org/article/S0190-9622(16)30150-5/fulltext

Hidradenitis suppurativa (HS) and Down syndrome (DS): Increased prevalence and a younger age of hidradenitis symptom onset

George Denny and Milan J. Anadkat, Journal of the American Academy of Dermatology, September 2016 (published online 22 August 2016)
Hidradenitis suppurativa (HS) occurs in approximately 1% of the general population.1 It is characterized by recurrent inflammatory nodules, sinus tracts, and scarring, most commonly in the axilla and groin. The origin is unknown, but is most likely related to inflammation and immune dysfunction, combined with extrinsic factors.2 The relationship between HS and Down syndrome (DS) was noted in 1977 by Dvorak et al.3Since then, scattered case reports have been published but the mechanism underlying this association remains unidentified. Details regarding the relationship between HS and DS, such as effect on disease incidence and age of onset, are also lacking in the literature ...

• The full text of the article is available free online

New ‘one stop shop’ for disability research 

Community Care Review, 18 August 2016

The Centre for Applied Disability Research has launched a new Disability Knowledge Clearing House that aims to connect service providers and consumers with the latest research evidence ...

• Visit the clearing house at The Centre for Applied Disability Research’s website. A permanent link has been added to the website list in the right hand column of this page.

And in case you missed it we posted yesterday about, updated statistics on birth incidence and population prevalence of Down syndrome have been published for the USA up to 2010, that 'will provide a baseline to assess the impact of NIPS as more data becomes available in the coming years. We anticipate that it will not be until 2017 that we will have an opportunity to assess the impact of NIPS on its first full year of use in 2012.'

New statistics on incidence and prevalence of Down syndrome in the USA

Posts and pages linking to statistics about birth incidence and population prevalence of Down syndrome are popular on this blog, probably most often accessed by students.  A permanent link is located in the list at the top of this page. But it is more important that we know how many people have Down syndrome so that appropriate and sufficient supports can be planned for. This interesting new paper adds to information about people with Down syndrome living in the USA:

Study estimates numbers of people with Down syndrome in the US since 1950
Mass General News (Massachusetts General Hospital), 8 September 2016
A new study has estimated, for the first time, the numbers of people with Down syndrome in the U.S., from 1950 until 2010. The total number arrived at by the investigation, which also is the first to break down its findings by ethnic group, is considerably less than previously estimated by several organizations ...

Citation:
Estimation of the number of people with Down syndrome in the United States
Gert de Graaf, Frank Buckley and Brian G. Skotko, Genetics in Medicine (2016). Published online 08 September 2016

• The abstract is free online, access to the full text of the article requires purchase. 

Down Syndrome Education International (where Frank Buckley is CEO) has published a brief fact sheet distilling the numbers from the new research paper, to answer a series of questions about changes:

• People living with Down syndrome in the USA:BIRTHS AND POPULATION

Survey on communication barriers

From the Conexu Foundation:

What are your communication barriers? 

At work, at school, out and about? Do they stop you from getting involved? Do they stop you from reaching your potential? How can technology help? 

Take a few minutes to complete our national survey. Together we can break down communication barriers.

• See more here 

About the Conexu Foundation:

Conexu Foundation is the go-to national not for profit organisation in technology-based communication access for Deaf, hard of hearing and speech impaired Australians ...

... We ensure people with diverse communication needs are supported and inspired to embrace new technology and provide training to show individuals and their families how to get the most from technologies for their situation.

Our research programs focus on areas that make the biggest difference in peoples lives. Once we identify these needs, we have relationships with organisations both in Australia and globally, that allow us to understand what technology is available as it develops anywhere in the world. Where solutions exist, we trial these in Australia.

Research news and commentary #9 for 2016

Perceptions of Crime and Safety focus groups NSW CID e-news, July 2016 City of Sydney in partnership with University of Sydney, Institute of Criminology are undertaking research to gauge community views and perceptions on crime and safety issues and are looking for volunteer participants, including people with disability. Their aim is to collect data from a broad demographic who live, work or study in the City of Sydney LGA. Click here for more information.

A research participation opportunity from researchers at the University of Newcastle:

Do you have a child with a developmental disability? 

Researchers at the University of Newcastle would like to invite you to complete a survey exploring your experience of being a parent of a child with a developmental disability. In particular, we are interested in how cultural factors may or may not affect your experience. We are also particularly interested in the positive and the negative experiences that you may have had and how this has affected you in your day-to-day life. 

If you are interested in participating, click on this link. It will take you to our website where you can read more about the study before deciding if you would like to complete it or not. On the webpage you can also find a link to the survey.

The profile of social functioning in children with Down syndrome

KB Næss et al, Disability Rehabilitation, July 2016,  21:1-12. [Epub ahead of print]
Background: Practitioners and researchers have asserted for decades that social functioning is a strength in children with Down syndrome (DS). Nevertheless, some studies have concluded that children with DS may be at greater risk of impaired social functioning compared to typically developing controls. This cross-sectional study explores the profile of social functioning (social capabilities and social problems) in six-year-old children with DS, compares it with that of typically developing children and reveals possible differences in predictors between groups ...

Conclusion: Interventions for children with DS should strongly focus on integrating vocabulary skills and social functioning starting at an early age. Implications for Rehabilitation Children with Down syndrome need help and support in social functioning. Systematic training to optimize social capabilities and to prevent social problems should be prioritized. Structured and explicit learning of words important for social interaction with peers and for conflict solutions should be emphasized. Integrated interventions focusing on social functioning and vocabulary should begin in preschool to prepare children for participation in mainstream education.

• The abstract is free online, access to the full text of the article requires purchase.

Family caring of older adults with intellectual disability and coping according to loci of responsibility

Teresa Iacono et al, Research in Developmental Disabilities, Volume 57, October 2016, pp 170–180

Background: A complex interplay of factors is evident in the response of family caring for older adults with intellectual disability (ID). The aim of this study was to explore the interaction of these factors ...

Conclusion: The loci of responsibility provide a means to understand carers’ appraisal of their role and the degree of control they have over it, and may account for varied coping strategies adopted.

• The abstract is free online, access to the full text of the article requires purchase.

Outcome of adenotonsillectomy in children with Down syndrome and obstructive sleep apnoea Mieke Maris et al, Archives of Childhood Diseases, 2 August 2016 Objective: To evaluate the outcome of adenotonsillectomy (AT) in a cohort of children with Down syndrome (DS) and obstructive sleep apnoea (OSA) ... Conclusions: AT results in a significant improvement of OSA in children with DS without a change in sleep efficiency or sleep stage distribution. Severe OSA was associated with a larger reduction of OSA severity. Almost half of the children had persistent OSA, which was not correlated to age, gender or BMI z-score. The abstract is free online, access to the full text of the article requires purchase.

News from Down Syndrome Education International (2)

Professor Sue Buckley receives Education Award from National Down Syndrome Congress Down Syndrome Education International, 24 July 2016
DSE’s Director of Science and Research, Professor Sue Buckley OBE, has been presented with the National Down Syndrome Congress’ Education Award for her work improving education for children with Down syndrome.

Professor Sue Buckley OBE was presented with the National Down Syndrome Congress’ Education Award “for improving the lives of children with Down syndrome by developing innovative research-based education techniques.”

The award was presented at the Opening Plenary Session of the National Down Syndrome Congress’ 44th Annual Convention in Orlando, Florida, USA.

Presenting the award, NDSC’s President, Marilyn Tolbert, recognized Sue’s distinguished career serving people with Down syndrome and their families worldwide through research and support services, including the earliest research showing children with Down syndrome could learn to read and – more recently – the first randomized controlled trial of an educational intervention designed for children with Down syndrome ... read more here.