Dr Kim Blake The guts in CHARGE syndrome presentation
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German CHARGE Online Conference 19th June 2021
CHARGE Syndrome checklist
International CHARGE conference
My students and me at the International CHARGE conference.Porfolio tagged in CHARGE Syndrome
POTS Research Update
What is POTS?
POTS is a clinical syndrome that falls under the umbrella of dysautonomic conditions. This means that the symptoms arise from dysregulation of the autonomic nervous system. POTS is characterized by a rapid increase in heart rate upon standing up, and symptoms are often relieved by lying down again. A common “diagnostic test” is the tilt-table test, as shown in the image to the right.
Why Study POTS?
Really, it’s been CHARGE families that have encouraged Dr. Blake and her team to look into POTS and dysautonomia further.1 After hearing the one family’s story at the 2017 International CHARGE Syndrome Conference, Dr. Blake looked into POTS within her own practice. One case of clinically conﬁrmed POTS provoked further investigation, and POTS is now the subject of ongoing research at the IWK Hospital in Halifax, NS. We strongly believe that understanding this condition and how it presents in CHARGE Syndrome will have a signiﬁcant impact on the management of CHARGE and improve the quality of life of those who may be experiencing it. Preliminary Research Following the initial case report, a questionnaire was designed in order to investigate the prevalence of POTS-associated symptoms within the CHARGE syndrome population. This questionnaire included both a summary of CHARGE related features, and a “checklist” of POTS symptoms and severity. This questionnaire was piloted at the 2019 International CHARGE Syndrome Conference in Dallas, Texas. A total of 12 individuals took part in the study, and a summary of the POTS-related results is presented below:
- 4 out of 12 reported increased heart rate, or a racing heart
- “sometimes” or “often”
- 3 out of 12 reported light-headedness sometimes or often
- 7 out of 12 reported fatigue sometimes or often
- 6 out of 12 reported upset stomach sometimes or often
- 8 out of 12 reported trouble passing stool
- • 10 out of 12 reported that being in the heat makes them feel sick
If you have any questions, do not hesitate to reach out to Dr. Kim Blake, or her research student, Julia Morrison at firstname.lastname@example.org
Lily Slavin (left) and Lucas (centre) Julia Morrion(right).
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The Maintenance of Certification (MOC) Program – Tip of the month
The Maintenance of Certification (MOC) Program – Tip of the month
Years ago, I developed an interviewing tool that I now use to claim most of my Section 3 MOC Program credits. It’s called the Structured Communication Adolescent Guide (SCAG). I want to share this simple but rigorous tool so that you too can leverage it for your Section 3 learning, whatever your patient demographic.
I’m a pediatrician at Dalhousie University, but any physician and surgeon who interacts with adolescent patients can benefit from SCAG. Or, if you don’t work with many adolescents or young adults, you can adapt the SCAG to suit your own discipline or scope of practice. For example, I helped some Geriatric Medicine colleagues adapt it into the Comprehensive Geriatric Assessment Guide (CGAG). If you need any support, please feel free to contact me. I would be more than happy to work with you.
SCAG: What’s in it for you?
- A wonderful source of candid, articulate and honest feedback about your performance from your adolescent and young adult patients (that you can claim for Section 3 MOC credit).
- A reduced rate of misdiagnoses (your patients will trust you more and be more likely to disclose significant psychosocial information that could influence your treatment plan).
- An improved adolescent-interviewing skill set (explaining confidentiality, respecting anonymity, separating from parents, and discussing risk-taking behaviours with sensitivity and tact).
- A deeper appreciation of the Royal College’s CanMEDS Communicator Role competencies (something we all struggle with!)
3 simple steps to use the SCAG
The SCAG is a 33-item checklist derived from the Calgary Cambridge Observation Guide. It was most recently updated in 2016 to include modern behaviours, such as cyberbullying, vaping, screen time and social media.
Download the SCAG here and print out several copies to keep in your interview rooms
- During your clinical interview, explain to your adolescent patient that you’re looking for personal feedback and ask them if they would be open to filling out this questionnaire at the end of the appointment. Give them the SCAG and ask them in particular to fill out the comments section — one or two items you did well or could improve on. Repeat with a couple of adolescent patients a week for one or two months.
- At the end of the month, review your SCAGs. Are you getting a lot of zeros or ones? See if there’s something in the comments section that you can act on to improve. Are you getting a lot of twos? Congratulations are in order, but don’t rest on your laurels. Look for trends and other more subtle ways to improve.
- Most importantly, keep using the SCAG several times a year. Keep working on the areas where you can improve or that are uncomfortable for you as a communicator, and keep doing the interview properly. For example, don’t skip confidentiality discussions because it’s important for the patients — as well as their parents — to hear this part. (The value of confidentiality being explained and discussed is also supported in the literature.) And don’t skip interviewing the adolescent alone — this is where you’ll get the most honesty.
My story: Conversations around sexual identity
Even after many years of using the SCAG, I am continually learning things about myself that I can improve upon thanks to this checklist.
For example, I was once talking to a young lady about boyfriends and girlfriends, and I noticed that she was hedging. When I asked “how do you see yourself?” she told me she wasn’t sure if she was male or female, and where she fits. She commented in the SCAG that she could see I was uncomfortable but was glad that I asked. She comes from a strict family background and was grateful that we had discussed confidentiality.
In another example, when a different female patient told me about her boyfriend, I asked her about past boyfriends. It was an insight to me when her mother later told me that her daughter said she was a lesbian. I realized that because the young lady told me about a boyfriend, I had assumed she had also had previous boyfriends.
After I reflected on these experiences, I came to the conclusion that while I was strong in assessing depression, eating habits, social media and bullying, I was weaker in the area of discussing sexual preferences and sexual identity. So much of our medicine today is about lifestyle and not what I saw during my training; perceptions of gender and sexual identity have changed significantly over the years.
I created a CPD goal in my MAINPORT ePortfolio to “raise my awareness of the transgender community by reading more articles and paying more attention to where talk about sexual identity is going. I’m going to improve how I broach sexual identity during the interviewing process. Training myself to ask exploratory questions instead of absolute ones may help me to avoid making assumptions.”
This is why I like the SCAG—for me, it not only generates good observations that have enhanced my self-awareness, it also opens up dialogue to helps me become a better physician. And I hope it does the same for you!
Did you know?
The SCAG is currently taught to medical students at Dalhousie University, Queen’s University, the University of Calgary and the University of British Columbia. We have demonstrated its utility as a source of structured feedback and validity as an alternative to direct observation by a peer. We have also proven that it improves performance in residency following a study with PGY1 residents from eight specialties (four medical and four surgical).
Share “what works” for you!
Big or small, we’d love to hear your MOC tip. Submit a tip through our online form. If we use it, we’ll send it to our 40,000+ members in an upcoming issue of Dialogue (attributed to you). We’ll also post it on our website where it can be searched and read by all our MOC Program participants.
What people are saying about MOC tips
“Thank you for your MOC Tip of the Month. I very much enjoyed it and used it to create a template for developing a PLP. As the CPD Chair for the Canadian Society of Otolaryngology-Head and Neck Surgery, I am trying to assist our members in their CPD activities. We will use the template at our annual meeting this year for both the accredited and non-accredited educational activities.”
Gigi Osler, MD, FRCSC, 2017 President-Elect of the Canadian Medical Association
“I received several positive comments about my PLP tip. People felt the steps were helpful with the use of the personal example. In fact, one person is planning to attend a course on Indigenous health!”
Shahid Ahmed, MD, FRCPC, MOC tip author
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14th Biennial CHARGE Syndrome Conference
Dr Kim Blake will be attending 14th Biennial CHARGE Syndrome Conference Hobart 3-5 April, 2020Porfolio tagged in CHARGE Syndrome
A literature review on Factitious Disorder by Proxy and Malingering by Proxy
Inspired by a fascinating case followed by Dr. Blake over many years. The manuscript highlights current research on and suggestions for managing complicated cases of child abuse and maltreatment.
A case report and literature review CLICK HERE
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Top 3 Pediatricians, Halifax, NS
Dr. KIM BLAKE
You are now listed as one of the Top 3 Pediatricians in Halifax, NS. We would like to Thank You for providing consistent high quality service in your area of business. Our review team either approved or updated your business listing using our rigorous 50-Point Inspection which includes everything from checking reputation, history, complaints, ratings, nearness, satisfaction, trust, cost and general excellence.
Gastrointestinal (GI) and feeding difficulties in CHARGE syndrome; the guts of it.
Dr. Kim Blake Professor, Dalhousie University
14th International CHARGE syndrome conference – Professional Day August 2
The aim of this presentation is to discuss the gastrointestinal (GI) symptoms and feeding difficulties in CHARGE syndrome. Much of this presentation is based on the review paper titled, “Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe”, authors Kim D. Blake, Alexandra S. Hudson American Journal Medical Genetics 2017; 1-11. This review paper is a useful resource for professionals and parents who want an overview of the GI issues in CHARGE syndrome.
1. To leave you more knowledgeable and inspire you to ask questions about the forgotten gastrointestinal (GI) issues in CHARGE syndrome.
2. To share with you and your family the CHARGE syndrome checklist (Trider et al 2017) and the feeding assessment scale (Hudson et al).
3. To be an advocate for the CHARGE “gut” and move the research forward in gut motility and the microbiome.
Over 95% of individuals with CHARGE syndrome experience feeding and gastrointestinal (GI) dysfunction. The structural abnormalities, motility impairment and sensory impairment all contribute to the GI issues and are potential treatment targets. I will describe how cranial nerve abnormalities underlines the pervasive GI dysfunction and the need for further research on gut motility and the microbiome.
Much of the work has come from Dr. Blake’s laboratory/team at Dalhousie University in Canada. She will describe the clinical and basic science research that has been completed over the last 10 years. A recent publication titled “Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome”, will be discussed. Dr. Blake will also touch on the microbiome and preliminary data from her students.Porfolio tagged in CHARGE Syndrome