Can Autism Be Cured?

Can Autism Be Cured?

Is there a cure for autism? Will there ever be one?

First things first: what is behind the diagnosis of autism?

Autism, or Autism Spectrum Disorder (ASD), is diagnosed and defined solely on the basis of the presence of surface symptoms. As autism is not a biological ‘thing’ in itself, it therefore cannot be cured, since a behavioural label is not a disease.

It is always worth remembering that there is nothing else to an autism diagnosis, or ‘autism’ itself, apart from the surface symptoms.

This begs the question: what is causing the symptoms that earn one a label of autism in each individual case? And more importantly, can those causative factors, once identified, be addressed on a case by case basis?

For example, the more the person’s sensory processing is disturbed, or the more discord and delay there is in the way that their brain controls their motor function, the more severe their autism symptoms will appear.

If one is able to improve the way that the brain processes and reacts to the incoming sensory (auditory, visual, tactile) information, it is logical to expect that the person will become able to make sense of the world in a more confident and anxiety-free manner, and that some improvements in social interaction, interests and behaviours will follow. In other words, their core ‘autism’ symptoms would potentially diminish.

If the person’s control of their motor function can be improved, it is logical to expect also that improvements in speech will follow. In other words, the apparent symptoms of autism, as it is currently defined, could potentially be reduced.

“Clinically, riluzole has shown promise in reducing symptoms in some, but not all individuals with ASD. Thus, as expected in a spectrum condition like ASD, not everyone responds to the same extent to a drug challenge. In future studies, a neuroimaging approach such as the one used here could begin to help personalise medicine for ASD.”
(Ajram et al. 2017)

There are likely to be many types of autism, or ‘autisms’

There is growing scientific evidence that autism is a highly complex and highly heterogeneous disorder, and that we should be speaking of ‘autisms’ rather than one single ‘autism’. This means that the causes, the underlying biology that results in the surface symptoms of autism, will differ from individual to individual.

Just as there will never be ONE cure for all types of cancer, there will almost certainly never be ONE cure, or treatment, for all types of autism.

A good example of this is that there are now several known congenital disorders with extremely high prevalence of autism – children with Congenital Heart Disease (CDH), Tuberous Sclerosis Complex (TSC), Duchenne Muscular Dystrophy (DMD), Ehlers-Danlos Syndrome (EDS) all suffer much higher rates of autism than healthy children.

The underlying biological pathways that lead to the emergence of autism in those disorders are likely very different, and so one would not expect ONE single treatment to lead to a reduction in autism symptoms across all those disorders.

For example, while everolimus treatment has been observed to ameliorate core autism symptoms in children with TSC (see also other studies here and here), it would not be expected to have the same effect on autism symptoms in children with  the other congenital disorders.

When it comes to idiopathic autism, meaning all individual cases of autism for whom there has been no investigation of underlying causes, it is to be expected that once those causes are uncovered they will likely be very different and varied.

In addition to this, the factors that lead to the emergence of autism symptoms – that is, of autism itself – will likely be complex and multifactorial in each case. We therefore cannot expect ONE single treatment or therapy, in other words a single ‘cure’, to address all of the causative factors and symptoms at once.

“Clinical improvement after everolimus treatment was more remarkable for irritability, stereotypic behavior and inappropriate speech scores… In addition, stereotypic behavior and lethargy/social withdrawal subscale scores showed an overall reduction of 10 and 8 points, respectively. The severity of autistic symptoms… also showed a marked reduction after treatment.”
(Ishii et al. 2015)

“Patients in this study showed improvement in the social communication deficits and in restricted and repetitive behaviors. These preliminary data suggest that everolimus can improve symptoms related to ASD in patients with TSC.”
(Mizuguchi et al. 2018)

Treatment trials for autism often fail to show benefits

That statement is only partially true. On the one hand there are many very promising smaller-scale and case studies showing that some treatments do have enormous potential for a proportion of affected individuals with autism, resulting in reduced severity of symptoms and improved functioning and quality of life (1, 2, 3, 4, 5, 78, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19).

There are also documented cases of individuals whose symptoms have improved to such degree that they no longer meet the diagnostic criteria for autism.

On the other hand, there is at this point in time no definite, large, placebo-controlled double-blinded study that establishes beyond doubt that any single ONE approach could be an effective treatment for everyone affected by autism.

There are a few possible answers as to why this is the case, but one important one is the fact that the researchers are still not able to define what autism is—or, perhaps more accurately, what ‘autisms’ really are. When recruiting study participants for any one treatment trial for autism, it is therefore likely that many individuals will be included who have a different underlying pathophysiology, and different cluster of symptoms and impairments. Because of this the individuals who take part in the studies will have widely different responses to any single treatment, or a combination of treatments.

Even when a specific treatment appears to bring significant benefits to a small number of study participants, unless those positive effects can be shown across the whole mixed group they will be deemed statistically insignificant. The treatment will therefore be proclaimed ‘ineffective’ for autism as a whole, even when the effects on autism symptoms in SOME individuals appear to be highly beneficial and life-changing.

“Results of this study suggest that mechanisms involved in producing epilepsy may play a role in producing or augmenting autistic features such as poor social functioning… Given that ASD and epilepsy affect one another’s behavioral phenotype as well as response to psychopharmacological treatment, proper management for epilepsy may in turn reduce autistic symptom severity in these individuals with ASD and epilepsy.”
(Ko et al. 2016)

“The reduction in aberrant behaviors observed in this series suggests that some behaviors previously attributed to autism may be associated with intractable epilepsy.”
(Kokoszka 2016)

The search for treatments and cures for autism – on genes and faux controversies

The verb to cure simply means to relieve one of the symptoms of a disease or condition; to heal, to recover, to restore to good health. There have been a number of unproven and unhelpful assumptions about autism that have made associating the word cure-or even treatments-with autism unnecessarily controversial.

One such assumption is that symptoms of autism are just a personality trait or a ‘natural’ variation in functioning. This claim is not supported by research, economic and social data, or lived experiences, which show that autism is a seriously disabling condition with profound negative consequences on one’s quality of life and long term outcomes (1, 2, 3, 4, 5, 6, 7, 8, 9).

Autism and autism-related behaviours also have a profound impact on the lives of carers and family members (1, 2, 3, 4, 5, 6, 7). Societal and economic burden of autism is debilitating and exceeds the economic burden of cancer, stroke, and heart disease combined (1, 2, 3, 4, 5).

There are also ungrounded assertions that if the causes are genetic, or where autism is present at birth, researchers should not even investigate treatments for underlying causes in order improve the functioning and reduce the disabling symptoms of autism. This is an absurd argument in the light of the fact that scientists and clinicians are actively treating, or researching and developing future cures, for many congenital and genetic disorders, including those with high prevalence of autism that were mentioned in the previous section.

In addition to behavioural symptoms, individuals with autism frequently have impairments in sensory and motor functioning, as well as in many medical domains. Multiple studies show high rates of health problems, including seizures, gastrointestinal problems, schizophrenia, allergies and many others.

Mortality is significantly increased in autism, especially for people with more severe symptoms of the disorder. The severity of medical issues is strongly associated with severity of autism symptoms (1, 2, 3, also see What is Autism).

While it is sometimes assumed that poor health and high mortality in autism might be due to poor medical care received by individuals with autism throughout life, the evidence points towards poor health being intrinsically linked to the emergence of autism in early life. It has even been shown that early childhood physical health issues can be used to differentiate babies and toddlers who are at high risk of developing autism (1, 2, 3, 4, 5, 6, 7, 8).

On the basis of such findings, scientists now recommend approaching autism as a chronic health condition.

“25 patients with attention deficit and hyperactivity (ADHD) or autism spectrum disorder (ASD), and comorbid stuttering were followed and treated with ACTH for electrical status epilepticus in sleep (ESES)… Following treatment with ACTH, a reduction in spike–wave index (SWI) in all the patients was accompanied by a 72% improvement in ADHD or ASD… SWI at final visit significantly predicted improvement in ADHD or ASD, and in stuttering.”
(Altunel et al. 2017)

Going forward – achieving better outcomes for all

The World Health Organization declares that the highest attainable standard of health is a fundamental right for all human beings. Leaving aside entirely the idea of a cure for autism, people with autism deserve much better health care and health research than they currently enjoy.

By adequately identifying and addressing medical issues associated with autism, a wide range of individual’s challenges and difficulties can potentially be reduced, including anxiety, impulsivity, headaches, poor sleep, depression, aggression, self-injury, obsessive and compulsive behaviours, gastrointestinal problems to name a few.

No one should be expected to suffer a lower standard of health simply because of an autism diagnosis, yet diagnostic overshadowing—attributing medical symptoms and conditions to the diagnosis of autism and therefore not offering appropriate investigation or treatment—is widespread.

If an individual’s experience of autism does not involve health problems that result in suffering, and if the symptoms of autism are not perceived to be an impediment to happiness, independence, success, an enjoyable social and personal life, and to being in control of their lives, then there would no reason to seek intervention. However, for the majority of those diagnosed with autism, there is sufficient suffering and serious disability to rightfully deserve thorough investigation and appropriate intervention.

The imprecise, behaviourally-based and spectrum definition of autism should not reduce a person’s options.

“In participants over 40 years old, only 54.2 % were independent with eating, 43.0 % were independent with dressing, and 43.1 % were independent with bathing. In this age group, 4.2 % required a cane or walker and 10.7 % required a wheelchair.”
(Fortuna et al. 2016)

Conclusion: There is no universal cure for autism, but all medical conditions are potentially treatable

When the health conditions and impairments that are associated with autism are successfully identified and addressed their negative effects on cognitive and emotional function will be reduced. In other words, those surface systems that are the basis of an autism diagnosis can potentially diminish, and person’s behaviours and functioning can improve.

In a survey conducted by Thinking Autism of over 200 families who used various and combined nutritional and dietary intervention, and other therapeutic approaches to address autism-related issues, 95% found them beneficial and of those, 24% found some of the treatments “life changing”. Some families have documented their journeys and you can read about them here.

“Some people think we should just accept autism. And that if a child is treated, it changes who that kid is. I am still the same person I was, only now I’m happy and can enjoy life.” (Ryan Hinds, adult recovered from autism)

“The gluten and casein free diet changed me within two weeks from a brain-dead, depressed, anxious wreck into someone free of all of those struggles. Once I had that experience and I read literature of well-funded studies telling me I was obviously mistaken when it was clearly so powerful for me I knew something was seriously amiss with some of our institutions. The research I conducted since has helped fuel a total life transformation. A year from now I expect to be able to totally relinquish the label of ASD.” (O.S., adult with ASD)