Autism Spectrum Disorder in Fragile X Syndrome: Co-Occurring Conditions and Current Treatment — Webinar

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good afternoon everyone I would like to welcome you to today’s webinar autism

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spectrum disorder in fragile X syndrome co-occurring conditions and current

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treatment by dr. walter kaufmann I’m Jayne Dixon Weber the director of education and support services here at

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the National fragile X foundation I have a couple housekeeping items for you these webinars are made possible by your

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donations thank you for your ongoing support we have about it 20 to 30 minute

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presentation today and then we’ll take questions for the remainder of the hour please use the question bar on the right

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side of your screen and you can type in questions at any time today we have dr.

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walter kaufmann he is a clinician and a researcher with a focus on developing

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novel therapies for genetic disorders associated with intellectual disability

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and autism he’s the director of the Center for translational research at the Greenwood genetic Center in South Carolina before

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arriving there dr. Kauffman was a professor of neurology at Harvard Medical School his research uses a multidisciplinary

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approach to understand the basis of cognitive and behavioral problems in children with genetic disorders

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associated with intellectual disability and autism spectrum disorder he’s one of

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the leaders in the study of autism in fragile X syndrome he’s a member of the

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fragile X clinical and research consortium and has published more than 200 journal articles he’s also served as

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on several editorial boards as a reviewer over 90 scientific journals

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welcome dr. Kauffman it’s a pleasure to have you with us this afternoon

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hello everyone thanks Jane for the kind introduction this is my first webinar

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and and I am very excited to be here and to talk about this important topic the

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focus is a publication that came out in

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June in the journal Pediatrics and I want to sighs that this publication is was

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possible thanks to the participation of many of you in the project called for

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one which is founder is funded by the Centers for Disease Control and this is

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a very important project taking advantage of families attending clinics

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which are part of our consortium we collect data and we try to understand the most important issues that fade in

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the world with fragile X initially it was to pray about children well expanded

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this project to also adults with fragile X and and certainly autism the diagnosis

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of autism or the new terminology autism spectrum disorder is a common one in fragile X here you can see that there

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are different metrics different way to measure the relationship between fragile

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X and autism number one fragile X syndrome is the the

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number one the leading cause of genetic cause of autism depending on the study

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anywhere between two and six percent of children with autism are diagnosed with fragile X on the other hand if you look

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at from the fragile X perspective about 40 percent of India with fragile X are

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diagnosed with autism or autism spectrum disorder in our clinics that proportion

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is higher in males and females as in some way is reflected in the general

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population with autism bodies probably higher in in fragile X because males are

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more affected than females now this the central issue about doing

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this study was to answer the question what happened when a child with fragile

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X is diagnosed with autism what difference does it make so we focus on

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identifying the different neurological a bigger of problems that were affecting

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those who caught the label the diagnosis of autism two issues that

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are illustrated here is that in general there are more problems but this is also

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H dependent as you can see on the left side of the of the slide in children

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those who are ages 3 to 11 there is a

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higher proportion of a variety of problems those are mainly hyperactivity

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and ADHD type of symptoms however anxiety is not more common in those who

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got the diagnosis of of of autism while on the other hand the problem is more

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prevalent in those who are older those who are in the teenage years so you know

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you know there are more highly proportion of India who have

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neurological problem and they tend to be more severe also in those with autism

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but there is an age dependence pacifically there are probably they’re

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much more obviously than our lessons I want to get to that in a minute this slide shows that seizures are more

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common in at any of these two ages two groups of the children 3 to 11 and the

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teenage years 12 to 21 those who are got the diagnosis of autism had a higher

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frequency of seizures in terms of sleep the difference is much more obvious only

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in those who are older in the teenagers and that’s what what the slide tried to

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show it doesn’t mean that sleep problems are not present in those who without the diagnosis they are actually common but

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they are more common also in the adolescence in the teenagers with

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fragile eggs and autism the

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euro problem that I think in the world with fragile eggs are are diverse there

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are different types so we look at examine each one of them but only a few

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were more cleanly more common in those with without ISM in the case of children

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disruptive and aggressive behavior is more common in those who got the diagnosis as well as ADHD symptoms and

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hyper arousal and and as you know hyper arousal is this accessing response to

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sensory stimulation is typically auditory but it’s not only auditory it

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could be other sensory modalities other behavioral problems were not more common

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in those with fragile X when you look at teenagers one other thing that is is

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clear is the anxiety is more prevalent in those more frequent in those

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teenagers who got the diagnosis of autism and that is is maybe a little bit

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a surprise because we see anxiety also in children in any case anxiety is a

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very important role in particularly social anxiety is is a very distinctive

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feature of fragile eggs and and adolescent represented particular challenge in time period in anyone’s

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life in terms of social interaction so important being part of the group social

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life really is a major part of adolescence so that is is probably one

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of the reason why is more prevalent or more clear hina prevalence at this age in addition

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to looking at whatever Bureau problems on a royal problem the children have we

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look at also use of medications and we found what we respect that

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since disruptive behavior aggressive behavior is more common in those with

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with the label of autism the type of medications are used for those treatment

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for treating those conditions tend to be or the use of those that or comment with those without ISM we’re

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talking about medication when we call a typical neuroleptics some of them you

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know by the brand name like abilify and spend all those are medications that are

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typically used for for those behaviors so that was a big surprise and his is a

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confirmation that some of the behavioral problems are more common in those who have the diagnosis of autism now in

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addition to that we look at what type of non pharmacological treatments

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meaning no drug treatments are those children with autism receiving and and

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then we look at everything that is under the therapy and service label and what

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we found is that in general terms the

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children with with with the diagnosis of autism tend to use or receive more

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services and and that’s very clear for

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services across the board for those in preschool and at preschool age but by

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the time that they the children are in a school from K to 12 which is five years

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and older actually we were a little surprised that while many services are

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more prevalent in the in more frequenting those with the diagnosis of autism some des services that you expect

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to see in children who were diagnosed with autism were not more more prevalent

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a more frequent and we’re talking about services that had to do with autism like

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social skills applied Behavioral Analysis while we call ABA and and we we

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were surprised about that and we try to understand these and to compare with what happened in the you know population

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without ISM and that’s where the slide showing for instant ABA which is a type

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of a hero of therapy which is why we use in in in the artist

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feel it children who are in the pre-k age segment those who have the diagnosis

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of autism 26% of them are receiving those services and but those who are old

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who are in the K to 12 in this in the school period only 16% and both numbers

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are lower than what we see in the you know population with autism in which is about 36% so that was surprising find

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that many of the findings that I presented to you before were not a

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complete surprise we have suspected them but because they were then in his time

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with the smaller samples not as large as forward which for this purpose of this

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is ty had over 500 in the world with fragile X being being analyzed is is

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important that this data was confirmed but this is completely new the this

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information about utilization of services so why to do this well because

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we want to make sure that we understand what means to to have the diagnosis of autism and what are the problems that

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children and teenagers with with fragile X autism can have so so like I said some

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of those were we’re all really reporting as small as ty but the other thing or having a larger static confirmatory

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study study that could be more definitive is that we can have information for planning and how this is

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used for clinicians who are seeing children with frog legs knowing this

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information is important because with in fact we can emphasize the type of problems that they had to pay attention

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to an example is in children who get the diagnosis of artists who let’s say at

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age 3 or 4 be aware that soon after that

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they may have aggressive behavior on the Rapti behavior and perhaps a way to deal with

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the situation is to make sure that the environment of that child is one that

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makes less likely that they will display those behaviors our ultimate goal is to

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have good quality of life for these children and not necessary is to write

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more prescriptions it to have management of environment to try to create the

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condition by which New York can be better adapted to his or her own

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situation whether it’s a school home or what we call community going to call

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shop in going to recreational activities playground etc so this is helpful for

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clinicians and but this is also helpful for clinicians and other federal fair

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appease who provide services who which don’t include medication and to make

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sure that we get appropriate treatments it’s very concerning that while they are

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getting more ABA when they are very young they are not getting that in the

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same proportion when they are older when they are in a school age so this is

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actually something that information that we can use when we are interacting with

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the schools or this children go and in clinics we do that with many times were

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involved in the IEP process when involved in advice in the family and you

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can feel also in terms of bigger policy we may go at the state level even at the

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federal government level to explain the type of services that in develop with fragile expert even those who get the

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diagnosis of autism need so this is

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planning at the local level helps with the management of the children and management could be more preventive and

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also he held at the sort of big picture that I think that advocacy group like the

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National Training Foundation do so

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because the diagnosis of autism is so important we have been concerned about

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how good that we do it and and dsm-5

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which is the abbreviation of the sort of Bible of diagnosis of behavioral

16:05
problems mental health issues go through multiple revisions and the most recent

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one was published in 2013 it’s about four and a half years old and and we

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have been looking about how dsm-5 version number five is doing in terms of diagnosing and we’re beginning to be

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concerned about the quality of the diagnosis are we doing a good job is the diagnostic criteria that was released in

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2015 adequate for our population we have been

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all we been concerned that the intellectual and hero challenges of our children children with fragile X may

16:48
lead to diagnoses that are not accurate either under diagnosis or over diagnosis

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for full disclosure I was member of the committee that issued these skylights

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and this kind of like anything in science are working progress so what we

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have started as a follow up to to this work and relationship with B study that

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I just review beginning to look at how

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can we include the diagnosis so as part of forward also this very important project we’re collecting data on a

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couple of autism related measures they this one is the social communication

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questionnaire and the other one the social responsiveness scaled the names

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are not so important as to tell you that their measure that measures about its behavior and we’re looking at in which

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way’d and eight that can improve the diagnosis we have made some some

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evaluations of of how well these measures which are mainly for screening but we can use them

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as supportive measure for diagnosis they are not doing very well so we’re working

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and improving them and and incorporating them to the practice in clinics so this

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is something that can be applied in fragile X clinics and hopefully not only that we’re going to publish a paper on

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the subject so the clinician who are seen children and teenagers with fragile

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X not an autism or fragile X in general can who are not part of relaxing also

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learn about ease and become you know more tuned to the challenge of the

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diagnosis of autism in this population so I am a fast talker

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so I think that I have come perhaps even faster than expected

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so that’s all what I wanted to mention today and so I’m ready to begin the

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discussion about about your questions

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clarifying what I presented thank you um so Walter we have our first question in

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and it’s um it says dr. Kaufmann thank you for your presentation what would you

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recommend as current diagnostic best practice for ASD in children with

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fragile X syndrome hi Jane initially

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going on I’m sorry I didn’t mean to interrupt

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no I think everything’s okay from here okay I’m sorry I I’m going I’m meeting

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myself again no thanks David so we’re working that’s

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a good question and I think connects to the last slide and and we still

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recommend for clinician to use dsm-5 and but to try to incorporate as much

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information as possible to try to to be as

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in terms of applying criteria for instance to make sure that the diagnosis

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is not influenced by the communication skills develop communication skills of

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the of the child or teenager or even adult because that is not a factor that

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should influence the diagnosis is not the level of communication skill but

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rather the use of the communication skills how they are used for social interaction and communication another

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concern that we have in a desayuno concern about a variety of genetic

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disorders that go along with the label of intellectual disability but specific

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to fragile X we think that anxiety could lead to potential over diagnosis so to

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make sure that the symptoms that aren’t taken into consideration for the diagnosis are not influencing it been

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influenced by anxiety hyper arousal this exaggerated response to sensory

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stimulation could be another factor so so taking into consideration the type of

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behavioral problems and the type of cognitive problems that the child or the in the asylum may have and not making

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sure that they are not the one influencing the process like diagnosis I

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think we’re not yet ready but we will be ready very soon to recommend the use of

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a modified social communication questionnaire and social responsiveness

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scale we are going to publish which items for those scales are important

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because the scale will developed for those for children with autism in general or at risk for autism and again

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they could be affected by this problem that I just mentioned so we have selected through a process of very

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careful review which items of those scales should be used and for in turn we

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have gone from 39 items in the scq to 25

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I don’t remember sexually the number that we are there for the SRS the

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regional 60 fighting went down to tell you something so there have been a reduction of the items so when we have

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that rally we’re going to actually recommend the use of that to our fragile

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x community but also by publishing the data this this recommendation is going

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to be available to the general developmental disorders community okay

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it looks like someone’s it says they’re using the app and is this the way to ask presenter a question I have replied it

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so if you want to where you’re writing that your question I can see your

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question so if you want to go ahead and post that again or if you want to post your question there I’ll be able to see it so well through one of the questions

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that a parent sent in was they have found that you know something like using

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a sensory diet or you know using incorporating sensory aspects throughout

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the day have you know they’ve seen they’ve read that it’s been recommended for a lot of people with fragile X

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syndrome so something like that is that true for when you have an autism diagnosis – as I mentioned children who

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who have the diagnosis of autism tend to have higher frequency of sensory

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problems so definitely they tend to have more of that any intervention that deal

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with sensory processing is going to help

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it depends on the on the particular child or teenager because some of them

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don’t have the problems at the same level severity but if the sensory issues have been identified and Pacific therapy

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has been clementa as part of that it will certainly make things better you have to

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think that the the core problems in autism are about social communication

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interaction plus these what we call restricted and repetitive behaviors

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that’s the core those are the core symptoms and and we have worked very

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hard when we I mean the autism and developmental disability community have

25:04
worked very hard to identify treatment for the core set of autism unfortunately we don’t have that here that has been a

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frustrating long path but everything

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that can be done to modify other behaviors is going to make the coping

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with communication problems will restrict our ability area better so an

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indigo with fragile X and autism who has sensory problems the sensory problems are diminished in general any

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intervention that is trying to reduce minimize the social communication

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impairment is going to be more effective and overall like I mentioned before what we intend is to improve quality of life

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so it’s going to make easy being very concrete it’s going to make easier for

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that if you want to be in class we have to go to a shopping mall well there’s a lot of sensory information III call it a

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Starbucks effect I mentioned that way because if you enter a Starbucks one of

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these coffee shops there are people screaming what they are ordering there is music there is so much sense of

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information that for for many in the world not only with fried egg but in New York without this or that I have since

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liberal it’s very difficult to manage if we try to modify to some way immediately

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that we are going to may more likely the possibility that that in the you know

26:39
that child could could you know being in that type of

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in the city so definitely any treatment of these associate problems from ADHD to

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aggressive behavior through our anxiety and hi browser are going to make a

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difference in terms of improving the overall quality of life and even though

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they the behavior I say so we’re speaking of eggs I so what type of

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strategies do you recommend for addressing anxiety in children with autism like any treatment had to be very

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much thinner for the child some children can respond particularly all the

27:30
children and who have better communication skill may be able to

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respond to some type of modified cognitive behavioral therapy which is a treatment that is used in anxiety are

27:43
other can respond to play therapy other type of behavioral interventions are

27:49
also effective dealing with anticipating

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anxiety reading situation so they are going to go to the doctor so preparation

28:02
for those events preparation for transitions so there are a variety of

28:07
strategy that can be used in the you know category of behavioral management

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all the way from issues with scheduling to more complex therapies I cannot give

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a single recipe for everyone with autism and anxiety because there’s so much of a

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difference now medications may be needed also and certainly we tend to use

28:38
medications that are used in the you know population for anxiety and those

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tend to be what we call this arise and actually we know some seem to be more

28:52
effective in fragile eggs and I will use those sertraline seem to be more effective than other

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why but but we know that and and also even some of the medications that are

29:05
used for treating aggressive behavior seem to also help with anxiety one of

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them in particular a DP plus all the commercial name is abilify seem to be more effective than respect on for

29:18
dealing with anxiety at the same time dealing with aggressive or disruptive

29:25
behavior so there are a number of strategies that can be applied I always

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recommend and most of us try to do as much as we can with our medication right in with a medication and necessary

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reduce it having said all that I can tell that of course we are not happy about all the options we have and that’s

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the reason why we keep doing clinical trial to look for medication that could

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be more effective and in pacifically for fragile X that can go to the to the root

29:59
of the problems due to FM Martine deficiency in the brain and so you would

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do like I mean there I know that there are some strategies online for example addressing anxiety and so so what kind

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of what I’m hearing is that if you’re if you have a child who also has a diagnosis of autism that it’s just it’s

30:22
even you know not more important but you know just isn’t very important to really

30:28
figure out those strategies and what worked for your child because of the

30:33
impact that autism can have on the fragile X syndrome that’s correct I mean

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I think that every everything that we can use to minimize that the load of

30:47
problems for these children is critical because that will make them more engage

30:53
in the type of therapy that we’re trying to use for the core problem I mentioned

30:59
that we will be in the in the study published in June we were surprised

31:05
about seeing that children with who got the diagnosis of autism are not using or

31:11
not receiving social skills and therapy in greater proportions not without the diagnosis

31:17
that does perplexing but in order to take advantage of that social skills

31:22
therapies or any other type of hero problem we need to try to minimize all

31:27
the other problem that they have so so we are more proactive about treating anxiety treating hyper arousal like I

31:34
mentioned before ADHD it will help it would definitely help

31:41
it’s all very customized because as you

31:46
can see the range of role and I a child with fragile X 90 so can have at numerous but they had not necessarily

31:52
all in the same individual so he had to be really focused on what are the problems of this adversity child or

31:58
adolescent excuse me I’m gonna switch

32:04
gears just a tiny bit and he says in

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your experience when do children with fragile X typically get diagnosed with

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autism is there an age when the autism symptoms begin to display in children

32:22
with fragile X syndrome I don’t think that we have that data and I don’t want

32:28
to give my impression only because exactly would start like the one we publish in June we were trying to go

32:35
beyond a small series one thing that is true is that some children are diagnosed

32:42
with autism before they are diagnosed with fragile X the average age of

32:48
diagnosis of fragile X continued to be about three and a half so some children

32:55
are diagnosed with autism before that during the course of evolution by the

33:01
penetration in early intervention programs that you know and by age three

33:07
so that’s a group in which the Naza autism is before the diagnosis of

33:12
fragile X those who receive that know so fragile X I would say that if they go to

33:19
a place in which there is a lot of experience with indigo with fragile X

33:25
and other the mental disorder they get the diagnosis relatively shortly after that I you know

33:32
for the most part is couldn’t being true that within age four or five in general

33:37
the diagnosis of autism is much more obvious we want to make that that much

33:42
earlier than that but but I would say that the the lapse between the diagnosis

33:48
of autism at the diagnosed I’m sorry they’re not see of fragile X and then autism is rather short in the hands of a

33:55
someone who is very knowledgeable about population and remember we want the

34:02
diagnosis but we want the correct diagnosis we don’t want any everyone with fragile X to get the diagnosis of

34:08
autism because that happened when the people are not familiar so so we want to

34:13
make to have the right diagnosis and that’s the you know picture as we move

34:19
with improved diagnosis approach we’re going to look into these issues this is

34:25
an excellent question and we’ll show you how much we can get from this tie like

34:32
forward and we look and look every issues out this publication that I

34:38
present they have led to other studies and going to lead to more follow-ups to try to get deeper and deeper into the

34:45
issues that affect the indigo with fragile X you know here’s a question in

34:56
the end actually I get I do get emails on this one to Walter he says my child

35:03
is is not technically I does not take it technically have autism though he has

35:10
many similar traits but in order to receive certain benefits through the

35:17
school system it’s like a switch gets flipped on when you have an ASD

35:23
diagnosis I’m torn over the ethics of pushing for an autism diagnosis when I

35:30
can get more services and so it’s kind of

35:36
what’s the sentiment in the medical community to go ahead and labeling my child with autism just to get more

35:42
services this is a very important question and this dilemma is not only

35:50
dilemma for parents but also for clinicians because we want the best for

35:56
our patients and where we struggle about providing the diagnosis that we may

36:03
think that it is not accurate but is the only the only chance to to get services

36:11
and I think it reflects the problem with the system and is a very very important

36:18
problem in the United State but it’s not only restricted to the United States I was earlier this year in Sweden and I

36:26
was discussing with my colleagues in Sweden the situation about the diagnosis of autism in general not only in fragile

36:32
X in the world with intellectual disability and it’s the same situation that’s a different health care system I

36:39
think we had to find some way to provide what a patient needs without being so

36:47
strictly attached to labels and this is coming from someone who wrote the label

36:53
so so I I don’t I think that we

36:58
shouldn’t lose perspective that the most important thing is what the particular

37:03
in your needs and whether all the symptoms are there to get a particular

37:09
label or not it is is it’s important for the big picture organizational services

37:16
and other things that we need that but if someone has social communication

37:22
problems but the restrictive ravenna behavior the second component the

37:29
diagnosis of autism is not there we should provide the treatment for the

37:34
social communication problems and not to to to be so focus or fixated or the

37:46
diagnosis there is a problem there is an impairment we need a solution and the question has a lot to do with

37:55
policy and and with the organizational

38:00
services I’m going to tell you the truth we clinicians sometimes give the

38:06
diagnosis of autism because we’re so worried that that our patient are not

38:12
going to get the services but we know that by doing that we modified the

38:17
statistics and we get and at the end of at the end of the day of the whoever

38:23
needs to plan for service and have an incorrect information it’s not good so we have to have different approach to

38:30
this with a concern that we have about the diagnosis of autism in fragilis and

38:35
other genetic disorders we’re beginning to think about getting other diagnoses

38:41
that are are such that point out to the

38:47
real problem of the child and and we get we need to be proactive about saying if

38:56
a child gets the Ignacio social communication disorder yes it doesn’t sound like autism but that child needs

39:03
the same services some work with autism in that area and social communication area this is something that keeps me

39:12
awake at night and we need to do something about it I do this type of a study like the one that we published

39:19
recently and the second one about the diagnosis of autism I just mentioned at the end and this time I’m going to

39:25
provide data so we can go to the to the appropriate levels whether it’s legislature or other levels to get to

39:34
get a different approach to providing services well you know Walter thank you

39:40
for sharing that because I know that that’s a really tricky and so you know I

39:48
I know family struggle with that in there I mean that I’ve gotten emails you

39:53
know my child really needs ABA but unless he has a diagnosis of autism you know my insurance won’t pay for it

39:59
kind of thing it’s a tricky one okay moving on to the

40:06
next one my child’s anxiety and hyper arousal directly affects his ability to

40:12
communicate whether it is fragile X over his autism both directly affect his

40:18
ability to communicate I don’t understand how that would not increase communication problems in the dsm-5 I

40:27
think that’s what she’s asking I really

40:35
don’t understand the question I mean certainly anxiety and hyper arousal are common you don’t have to

40:43
have the diagnosis of file exit autism to have both of them all what we’re

40:49
saying in this study is that the frequency and probably also severe it is

40:54
greater if you have the diagnosis of autism and you can have fragile X without ISM and have it still anxiety

41:01
hyper arousal and in both cases are going to improve impaired communication

41:06
I don’t understand what is the relationship called communication and with the SM so I cannot answer that let

41:17
me see if she add it’s more in just a minute I’ll keep moving down my problems

41:23
do you think the sensory processing problems are more of a contributing factor to the aggressive and disruptive

41:31
behaviors in the ASD in fragile X we

41:40
that’s a good question and we always try to understand why a child displays

41:45
aggressive behavior and to be honest I don’t think that we all will have an

41:52
answer and I we had to try to find the cause and but I think that also to be

42:00
very cautious about over interpreting situations probably the best way to to

42:06
make sure whether it’s contributing to let’s say aggressive behavior is to have long periods of observation and

42:13
collecting data that’s what the ural therapies do they

42:18
not only the ABA expert which is one flavor of Pierrot therapy but other

42:23
forms to collect data is this analysis

42:29
that’s what ABA stands for applied behavioral analysis do you look at the

42:35
behavior of the if you will and you try to see what is the trigger what is

42:41
causing the behavior definitely we know that if you have communication problems

42:48
you get frustrated and you may display aggressive behavior because of that if

42:54
you have anxiety maybe aggressive behavior of what is labels aggressive

43:00
behavior says scale response because you’re so so we’re one by the situation you want to run and in order to run you

43:08
push people around it could be the sensory issue us or one with that noise

43:14
with all that so many things happen at the same time and one way to say is to

43:20
match when you don’t have the verbal abilities another way to change yourself

43:25
what is happening it could be aggressive behavior so the answer is all the

43:32
problems that effect in the world with with fragile eggs are common those that

43:40
I mentioned anxiety sensory stimulation communication all of them could lead to

43:46
something rattly behavior independent of whether they have autism or not so a

43:51
good behavior approach to disruptive behavior or any other type of hero

43:57
problem is to try to see what is the cause or what is if not the causes

44:02
sometimes sounds like it’s such a big world what seem to be you know

44:07
triggering would to see at least facilitating the behavior and to try to

44:13
care to deal with that as a way to decrease aggressive behavior unfortunately all what I have mentioned

44:19
in both time involves having behavioral experts and and and those new heroics

44:28
not available everywhere good quality behavioral services are not available

44:34
everywhere so unfortunately what we try to prevent is not and then app on the on

44:41
the peel of the medication I said I said solution to the problem it may be the

44:48
most short-term solution because the problem is so big that you have to deal with it right away but is ideally not

44:55
the long-term solution the long-term solution is some type of modification and environment

45:01
modification of the way that they in the world will try and respond to the environment and decrease the chances

45:08
that aggressive behavior are displayed well I know they can be more challenging

45:14
when you’ve set up a pattern when you try to when you go to change something it can take a while before that that you

45:22
know that you know for example the child you know understands that you know the environment is no longer going to be you

45:29
know you’ve changed the environment so that it’s knowing you’re gonna be overstimulating or as overstimulating as

45:35
it was before so it takes a while to unlearn some of those behaviors right

45:41
this is an important point because when behaviors maladaptive behavior will come

45:47
on adapting here in a problem behaviors are display and in some way reinforced

45:53
by the environment is very difficult to modify them and when I was in Baltimore

46:00
at the Canadian Institute and I began working on fragile eggs in 1995 the

46:09
impatient baturin unit had always saw a teenager typically 18 a year nonverbal

46:16
when you know that what autism as impatience to try to do with the hero

46:22
problem because that was the only way it was not longer possible to do it as outpatient by the time I left in 2012

46:30
the then there wasn’t always someone

46:36
with fragile X to miss an index that we are doing better we have been very big human services

46:41
earlier and that’s that’s one of the functions of this publication to say

46:47
look at this if this child comes to you let’s say that a child comes to you with

46:53
a diagnosis of autism then an early intervention service that B even before

46:58
the fragile X diagnosis if that’s the sequence by the time that come to your clinic be aware that this is a challenge

47:05
very high risk to display aggressive behavior so at the first report from parents or the school system or whoever

47:13
your therapist let’s try to take you know to do an intervention that prevents

47:21
the reforms of this behavior and that can happen as early as four or five so

47:27
so yes they trying to prevent the

47:33
scalation or the Mahiro problem is very important and again data as the one in

47:39
the paper you know reinforces the cause of being being proactive thank you um

47:49
you know here’s another one that’s kind of tricky I think I mean it’s more of a comment but then I have a question that

47:54
comes out of it so ABA therapies focus on compliance now this is one parent

48:01
comment ABA therapies focus on compliance and not mental impairment for

48:07
my son we tried ABA from three to five years of age and again at seven and a

48:13
half years of age his experience was a great increase in his anxiety because of

48:19
the ABA the ABA school did understand the fragile X and anxiety of hyper

48:26
arousal we transition to a public school who did better with fragile X but they

48:31
did not understand the autism issues so then they went on to home-school yes I

48:37
got my computer jumped around to teach you know coping skills and teach it his

48:44
level to help him understand so what they found is the different placements

48:49
did not understand the co-occurring Dino seize that I do see that you know kind

48:57
of a question that comes out of that for a lot of parents is so how do you adapt the ABA to someone who has fragile acts

49:05
and autism Nelson Tracy did write an article about

49:12
that but I mean I’d love to hear what you have to say right you know I have a

49:18
physician so I not be hero expert like therapy’s implementing ABA but it’s a

49:26
very important question if you are using ABA to extinguish some behavior or even you

49:35
know reinforcing or a skill and the context in which is supply is is one

49:43
that triggers anxiety or hyper also obviously it is not a good situation so

49:48
so to me ultimately good ABA is an ABA

49:54
that doesn’t create new problems now this sounds pretty straightforward

50:00
business trip for work force for many children is not obvious that a

50:07
particular approach that could be very structure and therefore anxiety

50:16
triggering he is inappropriate but at some point the therapist had to realize

50:24
the situation I I think that if a

50:29
therapist is applying ABA and doesn’t know how to deal with anxiety the

50:35
context autistic symptoms needs to you know to get to gain additional

50:42
experience to to take some courses because it’s not only fragile eggs anxiety as a as a comorbidity

50:51
co-occurrence of autism is not only fragile eggs the high prevalence is in

50:57
the general population without ism is so much the link between anxiety and autism

51:04
that now both one doing the Stallions particular testing new treatments in animals-mals

51:11
of of autism include anxiety as part of them the this symptom that they look for

51:19
in the animal is the drug decreasing behavior that are called anxiety in mice

51:26
as a way to make sure that the drag eventually when I go to human trials we

51:32
know that can deal with anxiety also and side is so close that anyone apply an

51:38
ABA went for the purpose of dealing with our autistic symptoms or autism related

51:45
problems had to in being corporative hyper arousal may be a little bit

51:52
different because while hyper arousal is is it’s also present in children with

51:59
autism who don’t have fragile eggs some of the elements of the high porosity you

52:05
see in fragile eggs are very unique the auditory component we have children who have tactile issues that difficult

52:13
thing that they had to they cannot deal with labels in the clothing they had to have a sort of loose-fitting clothing

52:20
thing like those and even visual visual

52:26
stimuli can produce exaggerated response but they the auditory hydrolysis is very

52:39
unique fragile X phenomenon and very so I think that that I understand that

52:45
could have been a little bit problematic a media may be sure that you implement I being not in a place that is going to

52:51
trigger got to be a very soothing place I mean there are some some some is sort

52:57
of very straightforward way to do so I don’t know if I had answered the question but I think that in my view

53:06
therapies that would deal with a BA in autism had to be able to deal with anxiety and to largest and with at least

53:13
certain level of height arousal so I I don’t fully understand what happened right

53:19
no I think that’s no I’m with you I think that that’s probably what does happen is that they parents – is that

53:27
some of the ABA does not take it doesn’t

53:36
take into account it’s not going to be a problem those providers are going to have not only problem with children with find your legs but children with autism

53:43
or other causes because it’s so common in an autism and sorry did let me now

53:49
one thing I want to mention one thing that is different in fragile eggs is that the prominence of the social type

53:57
of anxiety all types of anxiety can be present but the social side is so prominent and that is it makes almost

54:06
like a label of fragile X but again autism in the inner population what we

54:13
call if your party got dismissed so such a broad and diverse condition that you

54:19
see many people who have social anxiety also so I think that whatever was being

54:25
implemented need to be revised because it’s not going to only to fail for fragile X is going to fail for other

54:31
cause of autism I agree I agree if for those of you who are still on so you can

54:38
go to our website and I think it it’s called the article we have is adapting

54:46
adapting ABA for fragile X or something to that

54:51
effect and if you can’t find it shoot me an email a couple more questions Walter and then we’ll coda evening what

54:58
about the child that has missed the window of opportunity when they were

55:03
younger to get that ABA behavior and other the child is older and it’s so

55:10
expensive so I mean I can there’s a you know ABA wasn’t around when my son was

55:16
younger and and I often thought you know what how would things be different if he had received it so what can you give to

55:23
parents whose kids are older now and they’re dis discovering ABA therapy

55:31
why you know we want to be a be a to be part of the early intervention we call

55:38
early intervention autism but it is not available one thing that everyone had to

55:45
remember there is never a period in which you cannot do anything

55:51
so probably the type of effects that ABA has on a variety of domains including

55:57
cognition are not going to be there because the window then elemental window was means however any type of the hero

56:06
intervention and an ABA had been become so closely attached to autism I had to

56:12
tell you ABA was not initially designed for autism was designed for former hero

56:18
problems in mainly deal with intellectual disability but it was seen

56:24
as a way to modify behavior by having sort of very scientific and structure

56:31
approach like like I said before it by analyzing the situation and trying to

56:37
put a plan that makes sense to that particular individual so the hero interventions are never something that

56:45
we should rule out no matter how all is thinking world in fact the story that I

56:51
mentioned about the unit in Baltimore those teenagers typically in 15 16 years

56:58
old these big points with tragedy legs autism and limited verbal abilities

57:06
right to the unit after being on four or five different medications and none of

57:12
them seem to be normally these combinations being successful in dealing

57:18
with behavior in the safe environment they were taken off all medication you

57:24
cannot do that home but you can do in an inpatient unit it is specialized in these and we don’t know what is working

57:33
here maybe by the time that you end up with four or five medications you don’t know why the first one won’t prescribe

57:39
and they were taken off the medication and the approach of collecting data and

57:44
try to modify behavior began by the time they were discharged of the unit many of

57:53
them went with you know almost always gonna make issue but fewer than they

57:59
came in so maybe one medication because the behavioral intervention had made a

58:05
difference so to me and that was a I can provide testimony that that really

58:12
possible there is never too late to modify behavior and while you know some

58:20
of the gains that could have been achieved early in life may not be possible at fifteen or sixteen by

58:28
modifying this other behavior that we report in this paper we can make the

58:35
difference in providing a better environment for dealing with the corporal’s of autism if that’s what the

58:42
problem that this teenager has so never

58:48
too late to to intervene and I’m not

58:53
saying this not only to for fun it feel better this is actual based on

58:58
experience but also based on neuroscience the brain fortunately still

59:04
can be modified Lading life not to the same extent that can be modified early

59:11
life for sure but but it can be modified you never lose the capacity to to make a

59:18
positive change now the downside of that he said that’s a reason why FM RP

59:25
deficiency which is the fundamental problem fragile eggs he is a lifelong

59:30
situation because you need the ephemeral P all the time for your connections in the brain to function properly but the

59:37
good side of that the connections are constantly being being reorganized and

59:43
being in some way fine-tune is that it’s always a window opportunity so when we

59:50
did when we come up with a better treatment for fragile X well it’s a drag or non drag we know that even though he

59:58
trial was done in young children we are still that drug may be able to work to

1:00:05
some extent in someone who’s older well

1:00:12
and I and I would agree with you and I’ve seen that I mean I think it’s never too never too late and I think that you

1:00:18
know you know I’ve got that myself and you know an adult son and he continues to learn and so and he continues to

1:00:26
understand my kind of repercussions of his behavior so I think that it’s you

1:00:32
know I think I you know like all of us do I think you know we all continue to learn our whole life and that’s true for

1:00:38
our kids too so with that Walter I think we’ll end on

1:00:44
that question and I would like to say thank you very much for sharing your expertise with us it was very

1:00:49
interesting and informative and this was this was the first webinar we’ve had on

1:00:55
that really discussed autism and fragile X so thank you very much never have a

1:01:04
chance to to cover this a very important topic in a fragile X you know and if

1:01:10
anyone comes up with another question please email it to me and a Jane at

1:01:16
fragile X org and I will forward that on to dr. Kauffman before we end I want to

1:01:22
let you know about some upcoming webinars we have we have one on the able act on October 11th and we also have our

1:01:30
annual webinar on medications with dr. Craig Erickson on November 2nd so watch

1:01:36
your emails again these webinars are made possible by your donations please go to fragile X org and make a donation

1:01:44
Walter any other closing words before we end I wanted to mention a website that

1:01:54
for those who are internet indicia of autism in general and the website covers also filings the simon foundation one of

1:02:03
the major organization for autism has a

1:02:08
website that is about news and his independent from the foundation

1:02:14
essentially all these studies and this study that I just present is going to be

1:02:19
there are digested and presented in a way that’s objective to make sure that

1:02:25
families who have someone without ISM as well as clinician a scientist can

1:02:31
understand better the new research has been done in the field of autism

1:02:36
including fragile X and autism so he said what’s the website Jane I

1:02:44
think so you could if you can either the website is spectrum news.org or if you

1:02:52
google spectrum Simons Foundation you’ll also see because it’s part of the it’s a

1:02:59
division of the Simons Foundation it sound right right and and May we will

1:03:07
have this a webinar in the future when we have better diagnostic approach to

1:03:14
talk about that because we continue being concerned about the issue of autism and this is only the beginning

1:03:20
and please don’t forget to participate in forward data has been possible thanks

1:03:29
to for well thanks to all of you thank you that was great Walter thank you for

1:03:35
reminding people of that and on that we will end it I appreciate all of you

1:03:40
joining us tonight and so thank you and have a wonderful rest of your day