Showing posts with label Lovaas. Show all posts
Showing posts with label Lovaas. Show all posts

Thursday, 4 April 2019

A 15 year Longitudinal Study of French Autism and a look at Early Diagnoses of US Autism that Resolved

Today’s post is all about what to expect in the future; it covers a detailed look at 2 different studies that I think are best considered in a single post.

Forewarned is forearmed.

How high to set the bar?

In a recent post I highlighted the need for long term (longitudinal) studies showing what happened to people diagnosed with autism back in the 1990s in California and New York, when an autism diagnosis was much more meaningful and yet early intervention was already available. We could then see what the outcome was 20 years after diagnosis and this might help parents decide their own autism strategies for today.

I was encouraged to subsequently come across today’s study from France that traces the progress made over 15 years by a group diagnosed with autism.  I also include my take on a popular recent study that showed what “Optimal Outcome” looks like in American autism, but that looks just over a 4 year period.

Don’t raise your hopes.

All this leads to the practical question of how far to raise the bar? What should parents expect at diagnosis? What should clinicians be telling parents? and what kind of value is being delivered by hundreds of millions of dollars spent on early intervention and special schooling by each of many municipal authorities all over world. Is their spending delivering its potential return? Today's post suggests not.

Today we come across 2 autism rating scales. The Childhood Autism Rating Scale (CARS) is my long-time favourite; in this scale above 30 means autistic and if you get above 36.5 it is severe autism. If you come at 29 you have some features of autism but not enough to be diagnosed with even mild autism.

The Vineland Scale is a very scientific way to measure adaptive behaviour (life skills). These are really the most important skills you need to live semi-independently and have some kind of job.

The Vineland results really reflect what you are taught at school/home, rather than how “autistic” you are.  Vineland is not a measurement of IQ. You can be a functional adult who is still well and truly autistic and have had a CARS score of above 30 from diagnosis at 3 years old all the way to 18 years old.

If you are a genuine Aspie reading this, I very much doubt your CARS score was above 30 when you left high school. This is why Asperger’s has to be considered as a separate category.

The French Study

The way autism was treated in the 1990s and early 2000s in big cities in California was very different to how it was, and is, treated in France. In France hospitals and psychotherapy played a major role, whereas in the US it was and remains all about ABA early intervention.

The outcomes in France for the top 20% are not stellar, but they are actually quite OK, they end up at 20 years old with the adaptive life skills of a 13 year old. The results for the remaining 80% in the lower group show adaptive behaviour / living skills of a 2-3 years old at the age of 20.  The percentage with severe ID/MR (IQ less than 70) increased from 49% to 78.2% at the age of 20.  In effect virtually the entire lower group, that makes up 80% of the study participants, leave school with mental retardation / intellectual disability.  That is a lot.  I did highlight in earlier posts that people with severe autism usually see their IQ fall as they get older, because IQ tests gets harder as you get older and people with severe autism acquire skills more slowly than their typical peers, so they inevitably fall further behind.  

The good news was that 5.4% of the cohort lost their autism diagnosis by age 20 and all without any ABA. Time and time again we see that some people age out of their autism.

Not surprisingly, the higher your IQ and verbal skills at diagnosis the better your outcome will be.  The most dramatic progress occurs before the age of 8.  This we already knew and it is attributed to the brain being more plastic in early childhood, allowing a greater degree of self-repair.

The average CARS total score of the entire group was 35.7 on diagnosis. On CARS autism scale 30 is the threshold for an autism diagnosis. Mild to moderate autism is 30 to 36.5.

You cannot make the case that this group performed poorly because they were all profoundly autistic, some were, but that was balanced by some with mild autism. As a group they were likely more severe than a group diagnosed with autism aged 3 in California in 2019.

By diagnosing at 2 years old and sometimes even younger, there will be a sub-group included whose very plastic brains were on track to self-repair, so that they would never have been diagnosed with autism in most countries, which wait till 3, 4 or even 5 years old to make a diagnosis.

Another key point here is that very likely a large proportion of 2019 autism diagnoses in the United States would correspond to a CARS score less than 30, but nobody bothered to measure it. As Dr Siegel suggests, their parents are now incentivized to want a diagnosis.  It is like a quirky badge of honour, with benefits.

There is limited data on long-term outcome of ASD with co-occurring intellectual disabilities (ID) and challenging behaviours in France. The EpiTED period cohort is a 15 years longitudinal study of the developmental trajectories of 281 children initially recruited at mean age of 5 years. Two contrasted developmental trajectories were identified. Low cognitive level, absence of language, and higher ASD scores at baseline were predictive of low growth at follow-up. As adults the participants were predisposed to persistent co-occurring challenging behaviours as well as underlying ID impacting their ability to function independently. The results underscore the need for development of services and supports for adults with ASD in France who may also have already lacked access to adequate interventions and support services.

The inclusion criteria in the EpiTED cohort were: (a) index child age below 7 years; (b) parental informed consent; (c) diagnosis of childhood autism, atypical autism, or Asperger Syndrome according to ICD-10 criteria (atypical autism corresponded to at least two domains of impairment according to ICD-10 criteria) (World Health Organization 1993) (autism will be subsequently referred to as ASD unless specifically signifying subtype). All diagnoses were validated by two independent, experienced child and adolescent psychiatrists among the research staff (including AB), on the basis of medical records, as well as videotaped observations during enrolment. Subjects for whom a consensual diagnosis could not be obtained or those for whom the date of appearance of ICD-10 autism symptoms emerged after 3 years were not enrolled. Between 1997 and 1999, among 362 eligible children, 281 with ASD (77%) aged between 3 and 7  years fulfilled the research inclusion criteria (T1); 62 children were excluded as they did not meet research inclusion criteria; 19 children (families) had moved away prior to enrolment and were also excluded.
The index children were followed prospectively over 15 years with four assessment points: ages 5 (T1), 8 (T2), 15 (T3), and 20 (T4) years (see flow chart, Fig. 1). At T2, from 2000 to 2002, 219 of children were reassessed; at T3, from 2007 to 2009, 152 adolescents were reassessed; and at T4, from 2012 to 2015, 106 young adult subjects were reassessed.

The primary outcome measures of the study were the standard scores in the three domains of the vineland adaptive behavior scale (VAB-S) (Sparrow et al. 1984). This scale is widely used to assess adaptive skills in different areas (daily living, communication, socialization and motor skills) in individuals from birth to adulthood including those affected by intellectual disabilities or ASD. VABS scores recorded at each of the follow-up times were used to identify developmental trajectories in communication, socialization, and daily living skills

ASD symptom severity was assessed using the total score of the childhood autism rating scale (CARS) (Eric Schopler et al. 2002), with scoring based on a 20 min and standardized video clip of the child interacting with an adult.

The diagnosis of ASD was stable (see Table 3): 94 (88.7%) subjects received a diagnosis of childhood autism and 12 subjects a diagnosis of atypical autism at T1; at 15 years follow up (T4), 82.6% of the cohort remained above the ADOS ASD threshold; 5.4% of the cohort lowered their ADOS scores under the ASD threshold; 12% of the cohort became “atypical autism”. Whereas the ASD diagnosis was remarkably stable between T1 and T2 follow up stages, most diagnostic changes occurred between T2 and T3. The ratio of participants without ID ranged between 7.5 and 22.5 according to measurement steps. Among the subjects with childhood autism, 59.6% were non-verbal at T1, with 39% remaining non-verbal at T4. With respect to comorbid ID, most changes occurred between 4 and 8 years of age. The proportion of children with either word/sentence language at T4 was 61%. The ratio of combined moderate and severe ID (IQ 20–25 to 50–55) measured by “best estimate” assessment of intellectual functioning was stable across time (around 80%), but the ratio of moderate ID (IQ 35–55 to 50–55) decreased from 27 to 5%, while that of severe ID (20–25 to 35–40) increased from 49 to 78.2% between T1 and T4.

Vineland Scale

Here below is an example tracking the adaptive development of a child with a disability.

If the child progressed 100% as a typical child in all three domains (communication, daily living skills and socialization) he/she would follow the sold black line at 45 degrees. If the child falls below expected level, then the line will track below the straight line at 45 degrees.

In the French data, the top 20% group reached the level of about 150 months of age by 20 years old. The Low growth group, which comprised almost 80% of the sample, reached the functional age of 24 months by the age of 20.

Fig. 2 Trajectories of adaptive level through adulthood among 94 participants of the EpiTED Cohort diagnosed as children. The figure shows the mean adaptive scores (CI 95%) over time for participants assigned to the two trajectory groups: _______Low growth group; ……………… lower CI 95%; - - - - - - - - upper CI 95%

The EpiTED is a unique prospective cohort of children with well-characterized ASD referred to five Departments in France. At the time of the cohort’s inception, the participating centers were the only public sites diagnosing and treating preschool children with ASD in the country. Although the cohort exhibited considerable rate of co-occurring ID, it must be noted that 20 years ago early diagnosis of high functioning children with ASD and interventions for them were not the norm in France. Therefore, children with ASD with more severe co-occurring levels of ID, communication, and adaptive impairments, so identified, were more likely to be referred to the study collaborating sites.
 Among the 106 study participants at the four collection time points, diagnostic stability was dominant, but not constant, and associated with a general improvement of ASD characteristics. However, the emerging trend in intellectual abilities, as measured by the best estimate procedure, was more unstable, with an increase of severe ID from 49 to 78.2%. This could result either from an actual decline of intellectual abilities, potentially and consequentially due to minimal exposure to educational interventions and learning opportunities (many children with ASD were historically excluded from mainstream education lacking access to support services), or alternatively as a result of lower performance scores on identical measures with advancing age, or both. While an improvement in adaptive skills measured by the VABS was the rule for the entire group, two contrasted developmental trajectories in adaptive functioning were identified. The majority of participants (around 80%) followed a low-growth developmental trajectory, with the remainder following a high-growth trajectory. Again, for majority of participants, a lower cognitive level, absence of functional speech, and increased CARS scores at T1 predicted a low-growth trajectory in communication, socialization, and daily living skills. Other studies have reported a similar relationship with IQ, non-verbal mental age, ASD severity and speech (Bal et al. 2015; Smith et al. 2012; Szatmari et al. 2015). Nonetheless, in the absence of studies on long-term effect of intervention, one cannot decide if this poor outcome is intrinsic to a fraction of the ASD population, or an effect of absence of interventions or limited exposure to learning opportunities. As regards co-occurring challenging behaviors, our results suggest that behavioral problems in children with ASD persist in early adulthood and are related to core symptom severity, levels of cognitive and language impairments, as well as medical comorbidities. The results also affirm that ASD symptom severity among adult subjects was a significant predictor of co-occurrence of challenging behaviors (Baghdadli et al. 2003, 2008). Another significant predictor was the presence of GI disorders. This is consistent with reports of a high correlation between the presence of pain and the frequency and severity of stereotypies (Courtemanche et al. 2016), as well as challenging behaviors in general (Chaidez et al. 2014). Nonetheless, these combined variables only explained at most 30% of the developmental variance observed in the study sample. Invariably, this means that other factors, not identified here, might explain the presence of challenging behaviors in adults with ASD. Additional research is needed to examine other influences, with particular relevance for the services and interventions in the community provided. It is of interest that for children with ASD, the main risk factors for self-injurious behaviour (SIB) were ASD symptom severity and cognitive level (Baghdadli et al. 2003, 2008). In the present study, the symptom severity remained a significant risk factor, but language skills instead of cognitive level predicted the presence of SIB. One possible explanation for this might be that SIB at adulthood may reflect a relationship with communicative deficits. This finding emphasizes the crucial role of communicative abilities and the need for targeted behavioural interventions for children with ASD aiming at developing better communication in order to prevent as well as manage subsequent challenging behaviours. The impact of having a child with ASD on parental QoL was strong with several implications not only on daily life but also on parental emotional well-being, lasting through adolescence through young adulthood. The results did not affirm that raising a child with ASD often leads to the breaking up of the parental relationship, as has been commonly believed. Overall, parental QoL at early adulthood appears to be mainly predicted by the presence of co-occurring challenging behaviours, whereas at adolescence parental QoL was also predicted by the children’s adaptive level, namely in communication and daily living skills. Again, the impact of co-occurrence of challenging behaviours on family life argues for the importance of implementing specific interventions targeting them at a younger age. In a functional behavioural assessment perspective (O’neill and Jones 1997), challenging behaviours are described as a way to obtain reinforcement or escape a negative experience, which is most of the time related to poor communication. From our perspective, the best way to prevent subsequent development of adverse behaviours is to propose specific treatment aiming at the development of communicative abilities in the very early years. It is also crucial to provide parental training and disability support guidance as parental involvement and knowledge is key predictive factor of parental satisfaction and performance (Renty and Roeyers 2006). We can hypothesize that the participants of the EpiTED cohort had limited access to this type of interventions, as the educational approaches have considerably changed since the children were included in this follow-up study 20 years ago (Happé and Charlton 2012). Finally, the EpiTED as a “period” cohort reflects the ASD diagnostic practices in France in the mid-1990s and in the ensuing two decades. High-functioning verbal individuals were frequently not given ASD diagnoses, due to the dominant use of alternative diagnoses in the French classification of mental health disorders (Classification Française des Troubles Mentaux de l’Enfant et de l’Adolescent, CFTMEA), particularly for verbal subjects, and the dominant influence of psychoanalysis. An important limitation of the EpiTED cohort therefore is that the prevalence of co-occurring challenging behaviours, ID, as well as associate medical comorbidity, including epilepsy cannot be representative of a contemporary profile of children with ASD that will be currently recruited from child and adolescent psychiatry services and ASD evaluation clinics in public centers. Nonetheless, the EpiTED cohort provides a distinctive portrait of French children with official diagnosis of ASD enrolled in public centers and how they fared over a 20-years follow-up as they became young adults. While there was improvement in their adaptive skills, the substantial social and communication difficulties among the children in the cohort tended to persist in adulthood reflecting the salient effects of non-specific, delayed or Journal of Autism and Developmental Disorders 1 3 absent interventions. As adults the subjects in the EpiTED cohort were noted to be predisposed to persistent challenging behaviours impacting their ability to be independent and have acceptable QoL. As the Government of France is increasingly recognizing the widespread shortcomings in services and supports for children with ASD and their families, the current EpiTED analyses underscore the need for service provision for adults with ASD as an urgent policy priority. This is a unique and relevant finding not only for researchers and clinicians but for policy makers in planning for the next National Autism Plan.

Conclusion on the French Study

This is French data that I think can be best considered as tracking outcome from DSM3-like autism. So it is Strictly Defined Autism (SDA), not the much broader 2019 type of American autism.

Based on my earlier review of the epidemiology of autism I found it roughly splits into 0.3% of all kids have Strictly Defined Autism (SDA), 0.3% have true Asperger’s (genuine little professors) and 0.4% have something in between. That takes us to 1% prevalence. In my opinion today’s figures of even greater than 2% prevalence include many people will very mild symptoms of ASD, so a likely CARS score of 25 to 29.  Beyond 1% is likely over-diagnosis, diagnosing for dollars, self-diagnosis, educational autism (school diagnosed), private psychologist diagnosis or whatever you choose to call it.

The Big Question

Would a 15 year longitudinal study in California (the home of ABA) look any better? In the next study at age 7 even the optimal outcome group did not look in any way “recovered”.  Perhaps by 20 years old things would look much better.

I would love to know and I keep an open mind.

Is French Autism therapy so much worse than in most developed countries? Different, yes; but is the result at age 20 any better in Germany, Italy, the United Kingdom or the United States?  How about some facts?

Now to the study on Optimal Outcome in US Autism

The sad news is that the US study only looks at outcomes of those with early diagnosis up to the age of about 7. The French study looked at all the way up to 20 years old.

Given those limitations of the US study, it does at least show us what the star performers look like at age 7. These are the ones that technically lost their autism diagnosis, but as you will read are still far from typical kids at the age of 7.

The study concerns the outcome for children diagnosed with DSMIV autism when then were 2.6 years old and then entered an early intervention program. Four years later about 9% no longer met the criteria for an autism diagnosis.

This loss of diagnosis is what we now seem to call “optimal outcome”. Today we get to see what optimal outcome means for those 9%, which accounts for the 38 children in the study.  So did 9% essentially “recover”?  Not really.

In research papers I usually skip to the data and what I saw was that of the 38 kids with “optimal outcome” only 10 were in mainstream school, without needing an assistant; that is what I would see as “recovery”. Those 10 kids are about 2% of all the 569 kids with an initial autism diagnosis.

Only 1% were free of any psychiatric diagnosis (ADHD, anxiety, OCD, MR/ID etc).  So, even optimal outcome does not look such a great place to be.

I wonder how many will be in mainstream school, without an assistant, when they are 16?  I think it will be more than 2%, I certainly hope so. I was expecting at least 10% would be mainstreamed without an assistant before they turned 7 years old.

Inner city New York is doing well diagnosing children so young and putting them into their early intervention program, but their results four years later look nothing like Lovaas suggested.

I am really surprised that more people did not lose their diagnosis. This sample is from New York where you might expect autism to be over-diagnosed and to have the best early intervention offerings.

Recall in the old post on autism with tics (Tourette’s type autism) that 6% of kids lost their diagnosis without any intervention.

If at 2 years old CARS is above 30 you have autism, if at 6 years old it has fallen below 30, you have lost your diagnosis and achieved “optimal outcome”.

A chart review was performed of 38 children diagnosed with autism spectrum disorder (ASD) by 3 years of age at an inner-city developmental program who subsequently experienced resolution of ASD symptomatology and no longer met diagnostic criteria for ASD at follow-up an average of 4 years later. 

Demographic, developmental/cognitive data, Childhood Autism Rating Scale, and Autism Diagnostic Observation Schedule data as available were reviewed from the initial diagnostic evaluation and at the time of follow-up. Services received by the children between the time of diagnosis and follow-up, educational setting at the time of follow-up, and emotional/behavioral and learning diagnoses made by the multidisciplinary team at follow-up were reviewed. The findings indicate that residual emotional/behavioral and learning problems were present at follow-up in the vast majority of children in this group and that the majority continued to require educational support.

Although autism spectrum disorder (ASD) has generally been considered a lifelong condition, it has been acknowledged for more than 40 years that some individuals with an early diagnosis of ASD do not meet criteria for the diagnosis at a later age. Lovaas used the term recovery to characterize the outcome of this group of children who received intensive behavioral intervention and later could be educationally mainstreamed and had average Intelligence Quotient (IQ). The term optimal outcome was coined by Fein to characterize a group of 34 individuals with early ASD whose later social functioning could not be distinguished from typical controls and who appeared to be cured of ASD. Follow-up studies have spoken of varying degrees of learning or emotional vulnerability that continue in the “positive outcome” populations, including attention problems and language problems. More recently, a long-term follow-up study of 198 children diagnosed with ASD at ages 2 to 4.5 years found that 17 children no longer met the criteria for ASD at the 2-year follow-up. Later, when the children were about 10 years of age, parents were interviewed by phone regarding the children’s school age needs. Based on parent report, all 17 children continued to have some type of ongoing developmental and/or neuropsychiatric challenge.

The goals of the current study were to further characterize the residual learning, cognitive, and emotional/behavioral diagnoses as well as the range of educational supports required at school age in a group of children with a history of an early diagnosis of ASD that resolved.

Demographics The 38 subjects of this study represented 7% of the 569 children receiving an early diagnosis at the center in a 10-year period. (In order to provide a real denominator for calculating the percentage of children no longer meeting criteria for ASD at follow-up, we need to know the number of children of the 569 who actually came for follow-up. Unfortunately, a change in our program’s clinical affiliation since the original cohort was studied with resultant changes in the charting system does not allow us to establish the exact number of the 569 children who came for follow-up. Our best estimate of the follow-up rate is on the basis of a prior study involving a subset of 108 children from this group of 569 who were diagnosed by 24 months. The follow-up rate for that group was 71%. Utilizing the 71% follow-up rate, the 38 children no longer meeting criteria for ASD would represent 9.4% of the sample.) The mean age of the sample was 2.6 + 0.9 years of age at initial diagnosis and 6.4 + 2.8 years at follow-up. The sample was 80% male with a diverse demographic representative of the community served: 36% self-identifying as Caucasian, 44% Hispanic, and 10% African American. Forty-six percent of the sample had Medicaid, and 42% were bilingual (Spanish and English). Eighty percent of the children received Early Intervention services (most commonly weekly special instruction for 1 hour per week and twice-weekly speech and occupational therapies) and 39% had received Applied Behavioral Analysis.

The above chart shows that the CARS evaluation of autism severity fell below the cut-off point of 30 and generally there was an increase in IQ of about 10.  So the kids became less autistic and a bit smarter. Severe autism starts at a CARS score of 36.5, you can see that these kids were only mild to moderate autistic at the time of their initial diagnosis.

One child went from CARS of 38 to CARS of 27. His parents should be very happy. He went from very serious autism to trivial autism.

Follow-up Evaluation Results

At follow-up, it was the clinical impression of the multidisciplinary team using DSM IV that none of the participants continued to meet criteria for an ASD diagnosis. Mean Childhood Autism Rating Scale score at follow-up for the group was 25+ 4, with 30 being the cutoff for ASD (Table 1). On the Autism Diagnostic Observation Schedule (available in 23 of the 38), all available scores were in the non-autistic range. However, other diagnoses were present (Table 2). Only 8% (n ¼ 3) of the children warranted no diagnosis other than having had a history ofASD. Sixty-eightpercent (n¼26) had language/ learning disabilities, 49% (n ¼ 19) of the children were diagnosed with externalizing behavior problems (attention-deficit hyperactivity disorder [ADHD], oppositional defiant disorder, disruptive behavior disorder), 24% (n¼9) were diagnosed with internalizing problems (mood disorder, anxiety disorder, obsessive compulsive disorder [OCD], selective mutism), and 5% (n ¼2) were given a significant mental health diagnosis (psychotic disorder not otherwise specified). Sixty percent (n ¼ 23) of the children received 2 diagnoses, with the most common combination being language/learning disability and ADHD. Follow-up cognitive testing, available in 33 of the 38 participants (Table 1), revealed that none of the children functioned in the range of intellectual disability, including those who previously tested as delayed on the Bayley. The average Full Scale IQ of the sample at follow-up was 93+14; 6% (n ¼ 2) scored in the borderline category; 27% (n ¼ 9) in the low average range; and 67% (n ¼ 22) in the average range (Table 1). The mean Verbal IQ of the sample at follow-up was 92+14 and mean Nonverbal IQ was 95+12 (Figure 1).

Follow-Up Educational/Academic Setting
Information regarding academic setting at follow-up was available for 34 of the 38 children: 26% of the children (n ¼ 10) were in a mainstream class, 13% (n¼5) were in a mainstream class with assistant teacher support, 29% (n ¼ 11) were in an integrated co-teaching (ICT) or collaborative team teaching (CTT) class/or received resource room, and 21% (n ¼ 8) were in a self-contained classroom (Table 2).


A given for this study is that there is a subset of children with an early ASD diagnosis who show a categorical improvement in their original social communicative impairment, such that they no longer manifest a social communicative impairment impacting on their functioning at some later point. Such a phenomenon has been repeatedly documented for a small group of children with ASD. Less clear has been whether children with this history continue to experience residual learning and emotional/behavioral problems. The findings of this small sample suggest that at least in the early elementary years, such residual problems are very common for this group. In this sample, although the loss of the ASD diagnosis was associated with gains in cognition, the vast majority of these children who experienced resolution of ASD continued to manifest symptoms of other emotional/behavioral and/or learning diagnoses (92%) and continued to require educational supports (74%).

Though it has been reported in multiple studies that a small subset of children with early ASD improve in terms of their social functioning and no longer warrant a diagnosis of autism,11 this persistent finding continues to beg severalquestions: Was autism overcalled in these children to begin with? Are some children better able to respond to intervention? Does the specific intervention the child receives contribute to outcome? All are possible. Based on our experience, our sense is that the symptoms evolve—in some children in response to intervention, in others due to their individual developmental trajectories. And who is most likely to evolve in this positive direction? Those with the mildest symptoms to begin with. This study as well as previous studies all support that it is the children with milder autistic symptoms who are most likely to follow this pattern of resolution of autistic symptoms. The milder forms of autism likely serve as a holding area. There, children await the emergence of the signs and symptoms of a more specific developmental or emotional-behavioral condition—whether that is language/learning disability or emotional-behavioral disorders that require more language, cognition, and increased behavioral expectations in order to be specifically identified and diagnosed. A 2-year-old simply does not have sufficient language or cognition to manifest the signs of schizophrenia, or to give voice to anxiety

Conclusions on the US and French Studies

I think that clinicians and therapists can too easily take cover behind the accepted mantra that each case of autism is unique, to justify why little Charlie did not make the hoped for miraculous “recovery” or achieve what Lovaas claimed as the outcome for 50% of such kids.  

In the wider world there is a concept of benchmarking performance, so you can see how your product or service compares.

Whoever is paying all these hundreds of millions of dollars in early intervention should demand proof of their effect. I myself do not see any proof.  The results overall look pretty terrible. Time to start treating severe autism medically?

By studying the trajectories of just a thousand kids from diagnosis to adulthood, you could reliably say what is typical and what you might expect in the upper and lower quartiles. Then you could look at the effect of different types of therapy and schooling. Nobody has done this, clearly too much bother and it would take many years.

My conclusion is that the bar has been set very low, too low. To be a star performer you do not have to be as dramatically improved as you might think.

I would love to know what percentage of these 569 kids from New York will go on to get a driver’s license.

Apparently, in the US we can expect about a third of those with an autism diagnosis, but no learning disability, to go on to pass their driving test.  I fail to see how you can safely drive a car in a busy city if you could not attend mainstream school without an assistant.

People diagnosed with autism at 3 years old versus 11, 21 or even 51 years of age have a completely different scale of disorder. I do not believe many of those diagnosed in later years would have ever had a CARS score of more than 30. 

I think if CARS needs to be 30 or greater to warrant an autism diagnosis, people with a lower score should not be given an autism diagnosis. I think this would immediately reduce the incidence of autism in the US by half, back down to the 1 in 100.

Why are not all children given a CARS assessment as part of their diagnosis? An ancestor of mine created a scale (the Baron score) used today to assess the severity of ulcerative colitis when carrying out an endoscopy. If a gastroenterologist can be bothered to give your ulcers a score, why cannot the developmental pediatrician or child psychiatrist?

Perhaps we should add a new label for CARS between 25 and 29; perhaps a “teeny tiny bit autistic”. Yes, you too can be on the spectrum, but don’t confuse your case with that of people with CARS above 36.

Thursday, 14 February 2019

More Politics of Autism, the NCSA, Prader Willi, Happy Puppets and the Crazy Car Wash

Kempton Park Racecourse, near London - now known for its Hot Dogs

A science-heavy post about microglia is in the works, but today’s post ties together some less complex issues.
As I mentioned in an earlier post, there is a new book out called the Politics of Autism, by Dr Siegel.
I did buy 2 copies, so I could give one away. It is a bit heavy going and I did skip some parts, but it is as expected a good read. The author does personally know/knew some of the “big names” in autism like Lovaas and even Bernie Rimland.
I was interested to read that Lovaas basically cheated in his famous ABA “clinical” trial, where he showed amazing responses. All the trial participants that did not develop speech during the trial were “retired” during the trial. He rigged the result, by removing those less responsive to the trial therapy.  If you follow this subject, you will know that some Americans and Canadians get very upset when intensive ABA is not provided for free to their child, believing that it would likely "cure" their child, like in the Lovaas study. This trial is constantly used to support the idea of intensive early intervention producing dramatic life changing results.  In most people with severe autism, no amount of behavioural intervention is going to change the fact that they are severely autistic. It does though make many such people more functional, which can greatly help them. Expectations need to be realistic and parents should not feel guilty if they cannot provide many years of therapy costing $60,000 a year. You can achieve a great deal at much less cost.
Siegel thinks that Bernie Rimland (of ARI and DAN!) started out well and then went a bit dotty.
She makes excellent points about education.
She makes the mistake of venturing into the realm of medicine, which is clearly not her field and tells readers not to bother trying to treat the biology autism. 10 years ago I would have been mistakenly backing her up on this, but then I had my epiphany, thanks to reading about Professor Ben Ari’s small clinical trial of Bumetanide in 2012.

Who should buy the book?
This is not a feel good book, it is a very down to earth book that tells the story as it is, not the sugar coated version.

I thought this book would be good for people who study autism at University, like one of Monty’s assistants; she now has copy number two.
Many people with Asperger’s would likely hate this book and think Dr Siegel is a witch.

I thought most parents of people with severe autism probably do not want to hear more about how bad things are, but perhaps I was wrong. Dr Siegel provided one of her old posts as a guest blog post for the newly formed National Council on Severe Autism (NCSA).

The NCSA is a new group set up to represent what used to be autism, before the diagnosis got broadened. They are really all about DSM3 autism, or what we called Strictly Defined Autism (SDA).

Horror stories or just telling it how it is?
Some people with mild autism seem to be very upset by what NCSA are advocating, but that is hardly a surprise.

Decide for yourself whether you consider the NCSA to be spreading horror stories, or just telling it how it is.
An attention-seeking UK daytime TV “celebrity” has a son with Prader Willi syndrome and he is regularly described as having autism.  Prader Willi is associated with an insatiable appetite which, if uncontrolled, leads to obesity; reduced IQ, impaired vision, behavioural problems and a bad temper. It is caused by an anomaly on chromosome 15, which causes a loss of function of some of those 600 genes.

75% of cases occur when part of the father's chromosome 15 is deleted.  In another 25% of cases, the person has two copies of chromosome 15 from their mother and none from their father. As parts of the chromosome from the mother are turned off, they end up with no working copies of certain genes
A similar mechanism occurs in Angelman syndrome, except the defective chromosome 15 is from the mother or two copies are from the father.

People with Angelman’s have small heads and are not obese; because they are generally very happy, they are sometimes called Angels.  The condition used to be called Happy Puppet Syndrome, which apparently is not seen as politically correct these days. I should add the Prader Willi could be called “please lock the fridge syndrome”, because if you do not remove food the child may become severely obese before he/she is 10, develop type 2 diabetes, rapidly become insulin dependent and then have even bigger problems.
The Prader Willi mother is campaigning for disabled people’s rights, which is of course a nice thing to do; she is against abuse/trolling on the internet.  She recently revealed that at 16 years of age, her verbal, but obese son cannot wash or dress himself and no longer attends school regularly, because he has learnt that by having an early morning meltdown, the driver will refuse to take him to school. Like many teenage boys he would rather stay home than go to school.

The mother says she is concerned he is missing out on schooling.
I dare say Dr Siegel would ask what kind of schooling is this 16 year old getting? Perhaps learning to wash himself and dress should first be mastered.  In someone without severe MR/ID this is a matter of correct instruction and unlimited perseverance, by someone.

Dr Siegel could repurpose her blog post again, this time:

Diagnose and adios? Prader Willi families deserve better

The mother says she is thinking of putting her son into residential care. That sounds great, but who is then ever going to teach him to wash and dress himself and restrict his eating? If Mum cannot, why would some employee earning near minimum wage in a care home make a better job of it? What happens when he starts to need insulin injections twice a day, because obesity was not addressed?
Sometimes horror stories do not reflect the child, but how they are being cared for and all with the best intentions.  Most such parents need help, indeed it’s to be expected. This all could be solved by some home visits from someone like Dr Siegel.  More of these people do exist; our Greek-American ABA consultant would give very similar advice to Dr Siegel. Avoiding school would not be tolerated, regardless of any meltdown. Someone with an IQ>60 definitely can be taught to dress himself, even if occasionally a shirt goes on back to front.  Food has to be restricted.

Monty's morning assistant at school works with many other kids with autism and from what she tells me, it is clear that many issues repeat, even the publicity-hungry mother who ends up failing her own child. Since our morning assistant is writing a self-help manual for parents dealing with severe autism, I can imagine where my other copy of Dr Siegel's book is destined to go. At least my autism intervention library is being put to further use.
It should be noted that some autism mothers react very dynamically. We have one reader who identified a novel effective drug therapy for her child and is now trying to commercialise it, we have another reader who has inspired and funded research into what was a rarely studied genetic "autism". Parents react very differently to the challenge of raising a child with a severe disability, in some it brings out the best.  It is not just about having a high IQ, or a lot of money.
Some people cannot afford to pay for such 1:1 advice, but many might choose to, if they knew it existed. In many countries, like some provinces in Canada, families dealing with a disability are given substantial financial resources to help themselves. In Ontario there is currently uproar on the proposed $140,000 cap on free autism therapies per child. That is $140,000 more free money that we received. I recently calculated our total cost of autism up to the age of 16 and when converted into Canadian money it is $190,000. They should of course have different limits based on different levels of severity. In the DSM5 jargon you have 3 levels of need/severity and so you could have a low limit for level 1, since Aspies do not benefit from vast amounts of ABA, say $20,000 and a high limit for level 3, say $250,000. Then wait for the surge in (re)diagnosis of level 3 autism in Ontario.

            Diagnosing for Dollars (click, for Dr Siegel's take)
Many “horror stories” appearing on the NCSA forums likely could be avoided by applying personalized medicine, rather than cookie cutter medicine, or standard psychiatric medicine. 

Kids with undiagnosed genetic disorders 
I am not a doctor, but I do quite regularly get to play guess the undiagnosed metabolic/genetic disorder.  The latest one is what would cause deafness and hypertonia and apparently no other symptoms.

I recently read that US medical insurance generally will not pay for genetic testing for autism, because there are no therapies.
But yet there sometimes are, if you look.

Look at the recent comments in this blog about a child whose genetic testing revealed a problem with the KCNQ3 gene, which encodes the Kv7.3 potassium ion channel. You can look up Kv7.3 channelopathy, or just the KCNQ3 gene.
This is at least partially treatable just by using google and the excellent Genecards human gene database; both cost absolutely nothing.

You can both activate and block this ion channel.  You will need one or the other.

Jobs for adults with Autism
You do quite regularly hear about how an IT company like Microsoft, or a big bank is actively recruiting people with autism. This always makes me laugh.  IT jobs for Aspies - yes of course, but autism?

People with DSM3 autism are not commuting to work reading the Wall Street Journal, or the Financial Times; but there should be things they can do.
Many years ago there used to be special companies set up to employ disabled people. This became not politically correct, for some reason.

Remploy is an organisation in the United Kingdom which provides employment placement services for disabled people. It is now a “welfare-to-work provider” finding jobs for disabled people, but for most its existence it directly employed disabled people in a number of factories, owned by Remploy itself, and subsidised by the UK government.  This was phased out at the start of the 21st century, under the prevailing view that disabled people should have mainstream jobs.

Sadly, many disabled people cannot hold down a mainstream job.

You might recall Andreas Rett (of Rett Syndrome), as well as being a doctor, established a factory in which neurologically disabled youngsters could work. That was 50 years ago.

One supermarket chain where we live sometimes has young people with Down Syndrome, or MR/ID helping to pack your groceries.

Monty’s afternoon assistant was telling me how sad it is that one Aspie her age is still without any job. My reply was that someone has to create him a job, just like we will have to create Monty a job.
I am a big believer in developing musical and other artistic skills, it did not get the above Aspie a job, but it does give him something to do.

Our very worldly Greek-American ABA consultant told me long ago that the biggest problem “her kids” face, as they grow up, is that they have nothing to do with all their time.  No job and no hobbies is not a good combination.
As I write this text, Monty is downstairs drawing a frog. Before that he was playing all the melodies in his current piano book.  Before that he washed his Mum’s car and earlier on we were washing my car.

Monty’s Crazy Car Wash
You gotta be a little bit Crazy to work here!
You gotta be totally Crazy not to try it!

I think Monty will end up more capable than having a car wash, but it is quite a suitable job for many young people with DSM3 autism. It is a genuine job, whereas packing groceries is not and the Crazy Car Wash is a lot of fun.

Good journalism?
There are very few journalists who are credible when they write about autism; they generally do not understand it at all (you cannot blame them for that!); then there are some Aspie ones, who will by definition tend to lack empathy, and they can completely fail to understand the severe end of the spectrum, often in a jaw-dropping fashion.

I rather liked this article by a 28 year old journalist taking charge of her 24 year old sister with autism, for the first time and going for a girls’ weekend riding horses.

I wonder at what point my 18 year son will be taking charge of his 15 year old sibling with autism, for a boys’ weekend. Hopefully I will not need to wait 10 years.
I expect it will be something eventful like Tom Cruise and Dustin Hoffman on a road trip to Las Vegas, in the excellent, but nowadays much maligned, film Rain Man. Bernie Rimland was the autism advisor for this film. 

This Christmas in London on December 26th, Monty asked me if he was going to be having a hot dog for lunch; leaving me to ponder where did that idea come from. He accurately recalled that 12 months previously, on Boxing Day, he had gone with Uncle Stuart and Dad to Kempton Park for a boys’ day out at the horse races. The weather is usually cold and damp (i.e. miserable), but you do get to have a hot dog.

If you can take the sometimes brutal honesty of describing things as they really are, then Dr Siegel’s new book is going to be appreciated and you will also like the new US National Council on Severe Autism. 

A sense of humour will do you much more good than political correctness ever will. Upsetting people can sometimes be necessary to enable them to acknowledge their own delusions. I am beginning to sound like Dr Siegel, who likely would take her car to the Crazy Car Wash, should Monty open a branch in California.
It is up to parents to stop their child becoming obese, even more so when they have a genetic propensity towards this condition. 

If you do not have $60,000 a year to pay for ABA and feel you are missing out, make your own intervention program instead. Buy some books and recruit some helpers.  Don't spend years fuming in a waiting list, pondering what might have been.