Search Results for: diagnosis

Podcast by Dr. Valerie Temple and Dr. Christine Loock for Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan
Released today!!
Read the full guidelines

Podcast: https://soundcloud.com/cmajpodcasts/141593-guide
20:07   Diagnosis of fetal alcohol spectrum disorder is essential to
improve outcomes for affected individuals and families, and to inform pre-pregnancy counselling to prevent future cases. This guideline from the Canada Fetal Alcohol Spectrum Disorder Research Network provides evidence-based recommendations for best practices in the diagnosis of this condition.

In this podcast, two of the authors of the guideline explain what to
look for in clinical practice. Dr. Valerie Temple is a clinical
psychologist at Surrey Place Centre in Toronto, and Dr. Christine Loock is a developmental pediatrician at Children’s and Women’s Health Centre of British Columbia, with an academic appointment at UBC.

Full guideline (open access): www.cmaj.ca/lookup/doi/10.1503/cmaj.141593
<http://www.cmaj.ca/lookup/doi/10.1503/cmaj.141593>

http://www.cmaj.ca/content/early/2015/12/14/cmaj.141593

CMAJ [Canadian Medical Association Journal] News Fetal Alcohol Spectrum Disorder Guidelines

First published December 14, 2015, doi: 10.1503/cmaj.141593
CMAJDecember 14, 2015 cmaj.141593

1. Show PDF in full window
<http://www.cmaj.ca/content/early/2015/12/14/cmaj.141593.full.pdf>
2. » Full Text (PDF)
3. Online Appendices
<http://www.cmaj.ca/content/early/2015/12/14/cmaj.141593/suppl/DC1>
4. Earn CME Credits
<http://www.cmaj.ca/content/early/2015/12/14/cmaj.141593/suppl/DC2>
5. Podcast
<http://www.cmaj.ca/content/early/2015/12/14/cmaj.141593/suppl/DC3>
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– Coming Soon –
Revised Fetal Alcohol Spectrum Disorder: Guidelines for Diagnosis Across the Lifespan
Since publication of the 2005 Fetal Alcohol Spectrum Disorder (FASD): Canadian Guidelines for Diagnosis, new evidence and information has emerged.
For this reason, the Public Health Agency of Canada tasked CanFASD with updating and revising the guidelines through consultation with national and international experts and review of the research literature. Release of the new Canadian guidelines, Fetal Alcohol Spectrum Disorder: Guidelines for Diagnosis Across the Lifespan, is expected in early 2015

Receiving a fetal alcohol spectrum disorder (FASD) diagnosis isn’t easy. First, it requires confirmation of prenatal exposure to alcohol. If—and only if—this is confirmed, a lengthy referral process ensues, followed by a diagnostic assessment which usually doesn’t take place until a child is school-aged, and often even later.

But research has shown that early interventions can profoundly improve outcomes for children with FASD. The challenge is that accessing these resources typically relies on having a diagnosis.

 “We want to offer interventions when a child’s mind is still plastic enough where you can maybe change primary outcomes on top of secondary outcomes,” says Dr. Geoff Hicks, who leads the Regenerative Medicine Program at the University of Manitoba, stressing the importance of intervention before a child reaches the age of six. 

Dr. Hicks is co-leading a project supported by Kids Brain Health Network (KBHN) to develop a genomic assessment tool that would identify infants and children at-risk of FASD, who could then access interventions before a formal diagnostic assessment takes place.

Canada’s current FASD diagnostic guidelines include an at-risk designation, intended for people with confirmed prenatal alcohol exposure and neurodevelopmental delays, but who don’t quite meet the criteria for an FASD diagnosis.

“If our tool is able to identify children at high-risk of developing FASD, then that’s a tool that can allow for a diagnosis of this “at-risk” category,” says Dr. Hicks.

The idea, explains Dr. Hicks, is that the result of the genomic tool would be indicated in the child’s medical chart to allow access to care and early intervention, as well as a recommendation for a complete diagnostic assessment at an appropriate time.

The development of the tool is based on epigenetics—changes that happen to a gene as the result of environmental influences, such as prenatal alcohol exposure. The test itself would simply be a cheek swab, which would look for epigenetic signatures that are unique to people with FASD.

The idea is that this would be a quick, cost-effective way to identify children at-risk of having the disability, including situations where confirmation of prenatal alcohol exposure isn’t disclosed.  

This project builds on previous work supported by KBHN (then NeuroDevNet), which sampled over 200 individuals and identified several epigenetic signatures unique to those with FASD— the largest investigation of prenatal alcohol exposure effects on the human epigenome to date.

Hicks and his team are now working to validate those biomarkers.

The team has already collected 150 samples from various Indigenous communities across Manitoba, with the intention of expanding across the province to hopefully collect upwards of 2,000 samples. The current  focus on Indigenous communities has been part of a commitment to the Truth and Reconciliation recommendations pertaining specifically to FASD.

[Photo] Dr. Geoff Hicks and Dr. Brenda Elias at the grand opening of the social biobank.

“First Nations are taking a leadership role in partnering to make a difference for all of Canada and for others internationally,” says project co-lead Dr. Brenda Elias. “They’re rising to the occasion to guide how we, together, improve diagnosis so that it’s closer to home and has a positive impact by taking a more holistic approach in support of all children and families regardless of their ethnicity.”

Developing an early identification tool falls under a larger project being supported by KBHN, called  Translating to the Community (T2C), a social biobank for FASD, and the first of its kind in Canada. Along with collecting biological samples to test for epigenetic signatures, the team is also collecting a much broader scope of information pertaining to the social determinants of health—from economic status, to general nutrition, to other diagnoses—to gain a more fulsome picture of FASD and the associated risk-factors.

Having a social biobank also allows individuals to be followed over time. Say someone’s environment changes (perhaps they are now living in a safe and stable home, which means they experience less stress on a daily basis). This information would be captured and researchers could see how this change in environment affects the way genes are expressed.

In the future, this could lead to identification of other disorders or health conditions associated with FASD, as a way for researchers to discriminate between changes resulting from alcohol exposure and those that are caused by other common risk factors or overlapping disorders. Knowing this can improve diagnosis and inform the best types of interventions to address them.

But perhaps what is most significant is the complete community involvement required when taking a social approach. Dr. Elias has been in the field working with community partners to collect samples, to determine how this kind of genomic tool would actually be implemented, and to inform interventions based on community need. 

“(Our study instruments) are collecting information that now gives clinical teams a broader understanding of families so they will be able to expand referrals to address underlying determinants that drive the development of FASD and associated conditions,” says Dr. Elias. “If you document at the onset of this process then you can start interventions early, and you’re setting up the opportunity to address social inequalities.”

Dr. Elias stresses that when studying FASD, you can’t just look at the biological aspects—the social drivers are equally as important. Taking a community-based approach allows for long term change and brings diagnostics closer to home—a concept which really resonates with Canadian rural communities.

“It’s very action-orientated type research that we have engaged; it’s not research just for the sake of research to understand expression in biomarkers,” says Dr. Elias. “It’s looking at the underlying conditions and historic transmission as well as to what could lead to the development of such conditions.”

Moving forward, the team will continue to collect samples and work towards developing the tool, which they hope will be clinically evaluated within the next five years. The team is also aiming to have the tool tested in the community to determine its usefulness and impact in allowing access to early interventions and are hopeful that communities across the country will participate in the project. 

“When you do research in this way with such engagement, understanding and trust, the stigma disappears,” says Dr. Hicks. “I hope this will be the next thing that really gives these kids and their families the break they need.”

Story by Vanessa Hrvatin

Surrey Place at the Forefront of FASD Recognition with New 3D Camera

Surrey Place unveils recently acquired technology that will enhance the way Fetal Alcohol Spectrum Disorder (FASD) diagnoses take place in Toronto.

On September 9, 2019 as part of Fetal Alcohol Spectrum Disorders (FASD) Awareness Day and Month, Surrey Place will host an awareness event and technology launch. The event will take place at 12 pm and includes a demonstration of the Vectra H2 3D camera which will strengthen diagnostic accuracy, and in turn, improve supports for individuals, families, and caregivers affected by FASD.

The International FASD Awareness Day, 09/09 started in 1999 as a reminder that during 9 months of pregnancy, a woman should remain alcohol free, and to create large-scale public awareness of this issue. This year Surrey Place continues the tradition by asking Torontonians to wear red in support of FASD awareness and by advancing FASD diagnostics through the launch of the 3D camera.

The camera will be the first of its kind to be used in Toronto at an FASD clinic and will enhance clinical assessment of FASD for individuals across the lifespan. The new technology will allow for better identification of subtle indicators of prenatal alcohol exposure by improving accuracy of facial analysis.

FASD is brain-based and therefore, a largely invisible injury. However, in about 8% to 10% of cases, there are subtle facial features that can be detected through facial analysis and these features can be used to confirm prenatal alcohol exposure. Confirmation of prenatal alcohol exposure is required for FASD diagnosis and using facial features for confirmation is very important in situations where history is not available, such as when an individual is adopted, or parents cannot be located. The new 3D camera is therefore incredibly helpful.

Dr. Shirley McMillan, Nurse Specialist with the FASD clinic at Surrey Place says, “We are excited to have this new technology because it will improve the quality of our facial analysis.”

The importance of diagnosis in FASD cannot be overstated. “Diagnosis is important because it is the first step toward understanding an individual’s challenges and getting appropriate supports and treatments in place”, says Dr. Valerie Temple, Psychologist and Lead for the FASD clinic at Surrey Place. “Without diagnosis, individuals are often misunderstood as behaving poorly or not trying hard enough. Understanding that the behaviour is due to a disability can lead to instituting supports rather than punishments and therefore better outcomes for everyone.”

About FASD

FASD is an umbrella diagnostic term describing the range of effects that can occur in an individual who was prenatally exposed to alcohol. These effects may include intellectual, physical, and behavioural difficulties with lifelong implications. While individuals with FASD may share common features, every individual is unique with their own strengths and challenges. A common misconception is that FASD is associated with social, ethnic, or cultural backgrounds. However, FASD occurs in all cultures and levels of society. Based on the most current research, the estimated prevalence of FASD in the general Canadian population is 3% to 4%, or about 1.4 million people (CanFASD).

About Surrey Place

Surrey Place provides specialized clinical services for children and adults living with developmental disabilities, autism spectrum disorder and visual impairments. We work with individuals of all ages to learn new skills, gain self-confidence, and find hope. Our compassionate, clinical experts work as a team. We create responsive, reachable plans of care that integrate multiple services, and include the individual’s community. We offer a variety of groups and workshops for individuals, families, and caregivers, as well as extensive education and consultation services to community agencies. Located across Toronto, and with a reach across Ontario, our locations offer a welcoming, inclusive, and safe space for high quality, evidence-based services.

For further information, media contact:

Lisa Binns
Director, Children’s Intake and Wellness
T: 416-925-5141 ext. 2384
Lisa.binns@surreyplace.on.ca