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PMS: it’s not what you think

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Last weekend, the Phelan McDermid Research Foundation held their biannual family conference in Dallas Texas.  People with Phelan McDermid Syndrome, or PMS, suffer from seizures and intellectual disability, and about 70% have an ASD diagnosis, Over 150 families from across the world came together to show each other support, learn about housing options, receive genetic counseling, talk to experts and hear the latest research.  ASF attended the meeting and this podcast is a short summary of what was presented by researchers at the conference.  This syndrome is caused by mutations of the SHANK3 gene, which is present in about 1% of people with autism, making it the most common single genetic influence of ASD.  Even if you don’t have a mutation in SHANK3, many of the issues affecting those with PMS may apply to you.  To learn more about the conference, click here:  https://www.pmsf.org/ifc/

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Classroom interventions that work

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Two studies came out recently which used a randomized design to show how interventions can be delivered in the classroom.  They both focused on making sure they were implemented properly and that teachers received the support they needed to help kids in the classroom.  It isn’t just about writing a manual, it’s about making sure teachers know how to deliver it.

https://www.ncbi.nlm.nih.gov/pubmed/29998740

https://www.ncbi.nlm.nih.gov/pubmed/29939056

 

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Autism diagnosed in school age, and does early intervention make a difference?

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Thanks to a Facebook follower, this week’s podcast highlights a new systematic review on Early Intense Behavioral Intervention. This systematic review, however, is not different from one published 5 years ago, because the nature of early interventions have changed so much that they no longer fit into the same criteria. While the rankings are disappointing, the findings do not reflect the ways in which newer interventions are being selected, delivered and studied. Also, we always hear about early diagnosis helping with early intervention. But what about kids who are not diagnosed until they reach school age? They have a different profile of ASD and may be a different subgroup of autism altogether.

https://www.ncbi.nlm.nih.gov/pubmed/29742275

https://www.ncbi.nlm.nih.gov/pubmed/29852752

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If you want to know about people with autism, ask them

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There are relatively few studies using self-report findings on standardized measures from people with autism.  Part of the reason for this is because there aren’t that many of these instruments to begin with.   Scientists are working on that.  But this week, a group from the UK took the existing data from smaller studies using the the Ritvo Autism Asperger Diagnostic Scale (which can be found here:  https://www.aspietests.org/raads/) to look at sex differences.  They found subtle differences between males and females on their language and sensorimotor features.  This indicates males and females experience autism slightly differently.   In addition, a different study interviewed people with autism at different ages to ask how symptoms changed over time and found that features of autism peaked in middle adulthood.  However, close family members, friends or caregivers didn’t always see it that way themselves.  This reiterates the need to collect information from multiple people – including people with autism – to provide better services and supports.

https://www.ncbi.nlm.nih.gov/pubmed/29796237

https://www.ncbi.nlm.nih.gov/pubmed/29971654

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A tool to describe strengths of people with autism

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Due to popular demand, this podcast is dedicated to the International Classification of Functioning, or ICF.  This is a tool used to measure functioning in people with not just autism, but across individuals.  As the expert guest, Soheil Mahdi, describes in this podcast, it isn’t about replacing a diagnosis of autism, but complementing the diagnosis with a description of ways the person is functioning in society, what strengths they have and how it that may identify opportunities for autistic individuals.  Soheil is a fellow at the Karolinska Institute and ASF is collaborating with him on the employment policy brief.  Thank you for suggesting this topic for a podcast!

 

Here are some other resources of interest:  https://ki.se/en/kind/startpage