Recently my good friend Isabelle Rapin brought to my attention an article published in the Journal of Autism and Developmental Disorders. The article was conducted by Dr. Rubin Jure from Cordoba, Argentina and was entitled, “Autism Spectrum Disorders (ASD) in Blind Children: Very High Prevalence, Potentially Better Outlook”. Dr. Jure has no formal academic affiliations and undertook this project based on personal observations in children that he had seen in his solo practice of Child Neurology. Dr. Jure conceived the study and conducted the same on his own and only after its completion decided to consult with Dr. Rapin.
The study was based on an unselected sample of 38 children at a school for the blind. Half of the children (n=19) had an autism spectrum diagnosis (ASD). The high prevalence of ASD in the blind is well known in the literature and may account, to a certain degree, as to why a significant percentage of individuals with congenital rubella manifest an autism phenotype.
The results of series detailing a correlation between ASD and blindness suggest that autistic phenotype is not dependent on the cause of the blindness but to the fact that the latter is complete and congenital in origin. What appears startling is that many of the blind children who exhibit ASD: 1) do not exhibit a gender bias, and 2) may lose their diagnosis with time. In a series by Hobson and Lee (2010) 8 of 9 blind children lost their ASD diagnosis when re-evaluated as adolescents. Dr. Jure’s review of 12 published studies totaling 859 early blinded children indicates the staggering prevalence of 48%. ASD as a comorbidity is peculiar to this sensory abnormality and not, for example, to deafness.
The authors of the article discuss some of the reasons why this high correlation has not received more attention in medical literature:
1) Childhood blindness is the least prevalent (0.33%) of all developmental disabilities. Furthermore, only ophthalmologists and specialized clinicians are able to take care of these children.
2) Attending clinicians feel compelled to identify the major incapacitating symptom. Autism in this regard takes a back seat to blindness.
3) There is an unawareness that the correlation exists primarily for congenital total lack of vision beyond light perception and not the etiology of the blindness. Some series of blind individuals may not comply with these observations and their heterogeneous population may not yield the indicated high prevalence rates.
4) Physicians may be reluctant to discuss a second disabling diagnosis with parents of a blind child. They may think it might inflict more pain and suffering on the parents.
The blueprint of connectivity of the brain of a blind individual is different from that of a typically developing child. It is posited that the plasticity ingrained in further rewiring the brain of a blind individual may confer some type of advantage that improves the outlook of autism, some children thus losing their diagnosis during adolescence.
In their conclusions the authors state:
“The time has come for professionals to be aware of congenital blindness (CB) universal consequences for brain structure and function, enabling them to help parents understand the unique and profound brain and experiential consequences of congenital lack of vision. They also need to explain to parents of all children affected by an ASD that it is not a “disease” but defines a particular group of behavioral symptoms of variable severity with differing pathophysiologies depending on its cause. They need to emphasize that ASD in congenital blindness has special characteristics and that all else being equal, the outlook for abatement of autistic symptoms may be somewhat better, long term, in some CB children than sighted children. Pediatricians and other professionals, cognizant of the high risk of ASD in CB, must be on the lookout and make sure blind babies and children’s development is followed closely and that they are provided with optimal social and intellectual nurturing from birth to prevent or remediate them if there are premonitory or overt ASD symptoms. For researchers CB/ASD provides unique investigative opportunities and ideas for research models, some of which may spill over into better understanding and management of all children with ASD.”
A Spanish version translated from the English version by Alexia Rattazzi MD can be obtained from alexiapanaacea@gmail.com
References
Hobson RP, Lee A. Reversible autism among congenitally blind children? A controlled follow-up study. Journal of Child Psychology and Psychiatry and Allied Disciplines, 51(11):1235-1241, 2010.
Jure R, Pogonza R, Rapin I. Autism Spectrum Disorders (ASD) in Blind Children: very High Prevalence, Potnetially Better Outlook, JADD 46:749-759, 2016.
Cortical Chauvinism 
Dr. Rapin is one of my favorites and I am glad she is still publishing at age 84. she has also written on mild to moderate hearing impairment in young children and co-occurring ASD. https://spectrumnews.org/opinion/viewpoint/isabelle-rapin-lessons-from-my-clinic/
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She was the mentor of my «brother» Roberto Tuchman who made his fame writing about seizures and autism- not a well known phenomenon back then. I have many stories about her..Once in Spain (maybe 15-20 years ago) while traveling in a group a gypsy man grabbed her purse. Her husband, older, could not provide pursuit. I tried going after the bandit with others but the purse was passed from gypsy to gypsy. It had their money passports, etc. That spoiled our trip. From there on I have been more careful when visiting Spain and now leave my passport in the hotel’s safe deposit.
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I was born almost completely blind in my left eye.About an 80% loss of the visual field in that eye.Perhaps with my recent ATLD diagnosis,I may finally have an explanation.ASD is not a «disease» in and of itself,but,like blindness,both can be features of any number of genetic syndromes.I have met a family on Facebook where one sibling is autistic,the other has Ataxia-Telangiectasia.So there must be some connection.
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One thing I do wonder though,is there a connection between visual loss,and severity of autism? Has there been any degree of congenital blindness reported in high functioning autism?
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The literature suggests that, if anything, blind autistics may improve with time and may even lose their diagnosis. Curioius finding.
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I might have lost my diagnosis a few times,had I not had so many regressions triggered by acute illnesses.Nor has the sight ever returned in my left eye.
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Roger, it looks to me like you aren’t noticing an essential point of the subjects of this study, which is that it is of people who are totally lacking in visual perception. Having one eye working puts you nowhere near that category. So even if you are or were somewhat autistic, that would not be related to this study.
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Very interesting but why do you keep reducing the understanding to «behavioural symptoms» and at the same time speak of it not being a disease. Why do you not recognize tht we are talking about deficiencies, in this case sensory, which can lead to a discapacity, autism, which ca be permanent.
My son is like Roger, blind of one eye, yet he is severely LF autistic. As his autism was becoming manifested I searched, this was early nineties, for articles related to it there were quite a few in the sixties and seventies and here is one I have at hand:
Autistic patterns and defective communication in blind children with retrolental fibroplasia. W.R. Keeler.in Psychopathology of Communication. Grune and Stanton. Pp 64-81, 1958.
Internet was inexistent then. It seemed clear to me that autism that was linked to blindness only, had a good prognosis, but that caused by tetrolental fibroplasia o rubella had a worse one. The reasons seemed clear to me. The blind child finds other ways to respond to the many orientative stimuli which will permit him to engage in social interaction and develop pragmatic cognition. Those, however, that were cogniitively inpaired, though prematurity and its treatment ( or other causes of which blindness was just one consequence) could not compensate.
Cease to try to explain autism by atributing to dirty molecules all symptoms. It is a mind which develops in interaction and which cannot make use of what is on offer to come out of an state which one could consider a form of primary autism, like there is a primary blindness and a primary ibncapacity to walk, Observe children. My son seemed the twin of his youger brother; was retarded by about one year, but played and smiled with his brother. At 30 montns he could not follow him, started slapping himself, sleeping badly, lost his few words, started spinning, or trying to etc..
Autism is a discapacity, produced by the inability to use the environment, not a behavioural syndrome.Some of the repetitive behaviours and rituals are an example of that read Lorez for example o the basic generic nature of rituals and repetitions, Freud on agnosia, and object representation…..
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Thank you for the comments. Autism is defined by behaviors, even as you explain its manifestations in your son, they are primarily behaviors. Treffert has written a lot about blindness in autism and special skills in his books. A possibility brought about by Jure and other authors is that of plasticity of the brain in blind individuals. There are books/articles now describing how the brain can rewire itself to comply with exigencies of the environment. In a certain way this is not that removed from what you are proposing.
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Mariano,I don’t know if you have read any of the posts I have made at various blogs around the internet,but up until seven years ago,I was verbal but low functioning.When my autism was reevaluated in 2008,and I was in my 40s,I was considered so low functioning that papers were presented for my mother to sign to put me in a residential treatment center,as I was considered too low functioning to live on my own,and needed to be under constant supervision.It was a year later,that my cerebral folate deficiency was found.I am of course very high functioning now,because I have been treating this condition since 2009,but if there is a profile of low functioning autism and vision loss,I would have fit it before 2009.
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«It was a year later,that my cerebral folate deficiency was found.I am of course very high functioning now,because I have been treating this condition since 2009,»
Wow. How many newspaper headlines about an effective treatment for autism have I missed? Though your case appears to be a mere anecdotal report. Just like the moon landing was just an anecdotal report (so not to be taken seriously).
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No Manuel autism might be defined, that is diagnosed, by behaviours, like other entities in mental health, but it is not at all only behaviours. That is a position, the incapacity to link those behaviours to cognition, normal needs, comunication, medication, environments and subjetivity; the abandonment of hyerarchical diagnoses and phenomenology, in favor of tic a box clinics, that is prone to come to disaster.
It certainly did with my son thanks to a sort of obligatory ABA, and then through a demand to treat the failure that followed with neuroleptics which we resisted, took to Law and won. The issue was that my son had been much better before the aplication of therapies, why then, we asked, and the Supreme Court, said we had the right to ask, had my son got worse?? And what was the medication supposed to cure? Even son Big Pharma mercafascism and behavioural talibans are well in power and hence he was excluded for four years. The regression was at times frightening, despairing.
That is autistic science, justice and clinical acumen for you Manuel. By the way I had seen people with distonias, diskinesias, akathisias, obesity, kids masturbating into torture and even die from those treatments asphyxia, NMS…. Long life to the caliphates of behaviourism and the empire of Big Pharma. I had to abandon the idea of spending my old age writting poems that is why I am not fully into the neurodiversity thing, they idealize things too much, they ignore the fight and the hard work we parents have to face and why many, sooner or later give up. Still I have time to make a few bottles of good wine, let me know if you come to the Somontano of Aragon.
Thanks Roger for your insights. We did try a few things when he was little but I do not think folate was one of them. I will speak to his doctor about this. If you think I should have other information which could be relevant please let me have the concrete links in those blogs. My son has been much better, no cognitively but in behaviour, and apparent happyness since he has been going to a centre with apropriate support for the last six months. People are astounded to see how this supposed dangerous violent person whose case was appealed by the administration to the Supreme Court to justify his exclusion, has «changed»: the stigma has gone, he is with people, his rituals are respected, and a couple of the personnel have taken a liking for him, and from there he is starting to cooperate, And he is in much better health and nearer home than those youngsters whose parents for one reason or another allowed their chidren to go into residential, behavioural, medication soaked concentration centres. Nothing big but I will sign with blood that it went on after we pass away ( we are old parents, he is 25) and not a bad job we have done for somebody who spent the first year of his life in special unit with oxygen and was resucitated more than 20 times.
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Autism is diagnosed by behaviors but there is much more to it, I agree. I believe in accommodations for everybody that may need the same. In the case of my grandson, he won’t be cured by them but the quality of his life has certainly improved. He still needs his seizures controlled which would probably improve his cognition. In his case the ketogenic diet more so than medications made an improvement.
I love Spain but have never gone to Aragon. Will have to keep it in mind.
Thanks again for the comment.
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I haven’t come here with the intention of bursting any bubbles, but I think I probably will anyway. A problem with publishing something under one’s own name (as I have, e.g. http://autism-causes.org/), is that one is thereafter at risk of trying to defend one’s prior words rather than to strive only for the truth. Anyway, I’m not feeling much such conflict yet…..
Wisely or otherwise I have proposed that the same things which cause autism, in lower level cause increased IQ, and the same things which in moderation cause increased IQ, in higher levels cause autism. So…oops, haha….no-one can be totally blind «in moderation», so that’s not something that can be at issue here. Moving on…..
The lack of gender imbalance, and also the tendency to recovery, suggests an altogether different causation from most autism. Indeed a causation by lack of visual input, in consequence of which the brain has to develop itself in other ways than normal. Obviously a blind person is going to have difficulty learning social cues, identifying individuals, and so on, such as would lead to symptoms fitting in the standard autism tickboxes. But is it actually autism? Or merely lack of some social and communication skills which would be entirely predictable from lack of vision?
So I would ask whether certain other characteristics of autism are ever present in these «autistic» children (as listed in Wing 1976 cited in Clarke 1993).
For instance:
-hand flapping and posturing.
-echolalia
-confusion of «I» and «you».
-spinning without dizziness
-springy tip toe walking
-arranging things in lines
-webbing of toes, wide spacing of eyes
-attractive «intelligent» appearance.
My strong suspicion is that this blindness-caused «autism» diagnosis is a distinct syndrome which has only the «negative» symptoms and lacks those latter «positive» symptoms and those other atypicalities. One could argue it is not properly called autism anyway (and hence its different outcome).
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