Neuroethics, the Predictive Brain, and Hallucinating Neural Networks

By Andy Clark

Andy Clark is Professor of Logic and Metaphysics in the School of Philosophy, Psychology and Language Sciences, at Edinburgh University in Scotland. He is the author of several books including Surfing Uncertainty: Prediction, Action, and the Embodied Mind (Oxford University Press, 2016). Andy is currently PI on a 4-year ERC-funded project Expecting Ourselves: Prediction, Action, and the Construction of Conscious Experience.

In this post, I’d like to explore an emerging neurocomputational story that has implications for how we should think about ourselves and about the relations between normal and atypical forms of human experience.

Predictive Processing: From Peeps to Phrases



The approach is often known as ‘predictive processing’ and, as the name suggests, it depicts brains as multi-area, multi-level engines of prediction. Such devices (for some introductions, see Hohwy (2013), Clark (2013) (2016)) are constantly trying to self-generate the sensory stream – to re-create it ‘from the top-down’ using stored knowledge (‘prior information’) about the world. When the attempt at top-down matching fails, so-called ‘prediction errors’ result. These ‘residual errors’ flag whatever remains unexplained by the current best predictive guess and are thus excellent guides for the recruitment of new predictions and/or the refinement of old ones. A multi-level exchange involving predictions, prediction errors, and new predictions then ensues, until a kind of equilibrium is reached.

That’s pretty abstract and highly compressed. But a compelling example involves the hearing of ‘sine-wave speech.’ This is speech with much of the usual signal cut out, so that all that remains is a series of ‘peeps and whistles.’ You can hear an example by clicking on the first loudspeaker icon here. You probably won’t make much sense of what you hear. But now click on the next loudspeaker and listen to the original sentence before revisiting the sinewave replica. Now, your experiential world has altered. It sounds like odd but clearly intelligible speech. In one sense, you are now able to hallucinate the richer meaning-bearing structure despite that poor sensory signal. In another (equally valid) sense, you are now simply hearing what is there, but through a process that starts with better prior information, and so is better able to sift the interesting signal from the distracting noise. For some more demos like this, try here, or here.

Image courtesy of Pexels.

According to these ‘predictive processing’ accounts, the process is one in which you start off with inadequate prior knowledge; so, when you first hear the sine wave version, you are unable to meet the incoming signal with the right wave of top-down predictions. After hearing the sentence, your model improves and you can match the sine wave skeleton with a rich flow of top-down prediction. Once you are expert enough, you can even recruit those apt top-down flows without hearing the specific sentence first. This corresponds to having learnt a generalizable world-model that now powers top-down prediction across new instances.

Finally – but crucially for present purposes – the balance between top-down prediction and bottom-up sensory evidence is itself controlled and variable, so that sometimes we rely more on the sensory evidence, and sometimes more on the top-down predictions. This is the process known as the  ‘precision-weighting’ of the predictions and prediction error signals (see Fitzgerald et al (2015)).

Perturbing Predictions

Or rather, that’s what happens when all works as it should. But what happens when such systems go wrong? Consider some of the options:

Over-weighting the sensory evidence.

This corresponds to assigning too much weight (precision) to the errors flagging unexplained sensory information or (what here amounts to the very same thing) assigning too little weight to top-down predictions.  Do that, and you won’t be able to detect faint patterns in a noisy environment, missing the famous Dalmatian dog hidden in the play of light and shadow, or the true sentences hidden in the peeps and pops of sine wave speech. Could it be that autism spectrum disorder involves this kind of failure, making the incoming sensory stream seem full of unexplained details and hard to master? (For works that explore this and related ideas, see Pellicano and Burr (2012), Brock (2012), Friston et al (2012).)

Under-weighting the sensory evidence

Image courtesy of Pixabay.

This corresponds to assigning too little weight to sensory prediction error, or (though from a Bayesian perspective this amounts to the same thing) assigning too much weight to top-down predictions. Do that, and you will start to hallucinate patterns that are not there, just because you strongly predict them. We can do this on demand, as when we set out to spot faces in the clouds. But if we don’t know we are upping the value of our own predictions, we may believe our own hallucinations. Indeed, just this was shown in healthy undergraduates whose task was to try to detect the faint onset of Bing Crosby singing ‘White Christmas’ in a noisy sound file. Unknown to them, the sound file was just white noise (no faint trace of White Christmas at all). Yet a significant number of students claimed to hear the onset of the song (Merckelbach and van de Ven (2001) – and for a follow-up study showing that the effect is increased by caffeine, see Crow et al (2011)).

More Complex Disturbances

Fletcher and Frith (2009)) use the Bayesian/Predictive Processing apparatus to account for the emergence of delusions and hallucinations (the so-called ‘positive symptoms’) in schizophrenia. The basic idea is that both these symptoms might flow from a single underlying cause: falsely generated and highly-weighted (high-precision) waves of prediction error. The high weighting assigned to these falsely generated error signals renders them functionally potent, positioning them to drive the system towards increasingly bizarre hypotheses so as to accommodate them. Once such hypotheses take hold, new low-level sensory stimulation may be interpreted falsely. From the emerging ‘predictive brain’ perspective, this is no stranger than prior expectations making pure white noise sound like White Christmas.

A hallucinating multi-layer neural network looks at the

University of Sussex campus (Work by Suzuki

et al. (2017). Image reproduced by permission.)

Our experiential worlds, all this suggests, are a kind of shifting mosaic in which top-down predictions meet sensory evidence. This is a delicate mechanism prone to environmental, physio-logical, and pharmaco-logical upset. Using as a base the multi-level neural network architecture Deep Dream, Suzuki et al (2017) created an immersive VR (Virtual Reality) environment in which subjects could experience visual effects remarkably similar to those reported using hallucinogenic drugs. Translated (as suggested by Suzuki et al) into predictive processing terms, the networks were in effect being told strongly to predict certain kinds of object or feature in the input stream, thereby warping the processing of the raw visual information along those specific dimensions.  For example, the network that generated the image shown in Fig 1 was (in predictive processing terms) forced chronically to predict ‘seeing dogs’ while taking input from the Sussex campus. The results were then replayed to subjects using a heads-up display and 360 degree immersive VR. Here’s a video clip of what the viewers experienced.

Predictive processing accounts link directly to psychopharmacological models and speculations. Corlett et al (2009) (2010) relate the chemical mechanisms associated with a variety of psychoses to specific impairments in the precision-weighted top-down/bottom–up balancing act: impairments echoed, the same authors note, by the action of different psychotomimetic drugs.

Implications for Neuroethics

All this has implications both for the nature and practice of neuroscience and for the social and political frameworks in which we live and work.

Image courtesy of Flickr.

Predictive perception is endemically hostage to good training data. So immersion in statistically unrepresentative worlds will yield real-seeming but distortive percepts. Barrett and Wormwood, in a high-profile New York Times piece, suggest that skewed predictions may play a role in some police shootings of unarmed black men. In the right context, visual evidence that ought to lead us to perceive a handheld cell-phone in a dark alley is trumped by top-down predictions that instead deliver a percept as of a handgun. Skewed environments build bad perceivers (not just bad reasoners or actors).

Above all, we should get used to a simple but transformative fact – the idea of raw sensory experience is radically mistaken. Where we might sometimes think we are seeing or smelling or tasting what’s simply ‘given in the signal,’ we are instead seeing, tasting, or smelling only what’s there relative to an expectation. This picture of the roots of experience is the topic of our on-going ERC-funded project Expecting Ourselves. We are all, in this limited sense, hallucinating all the time. When others hallucinate or fall prey to delusions, they are not doing anything radically different from the neurotypical case.

* This post was prepared thanks to support from the European Research Council (XSPECT - DLV-692739). Thanks to Anil Seth and Keisuke Suzuki for letting me use their work on the Hallucination Machine, and to David Carmel, Frank Schumann and the X-SPECT team for helpful comments on an earlier version.

References

Barrett, L.F. and Wormwood, J (2015) When a Gun is Not a Gun, New York Times, April 17

Brock, J (2012) Alternative Bayesian accounts of autistic perception: comment on Pellicano and Burr Trends in Cognitive Sciences, Volume 16, Issue 12, 573-574 doi:10.1016/j.tics.2012.10.005

Clark, A (2013) Whatever Next? Predictive Brains, Situated Agents, and the Future of Cognitive Science Behavioral and Brain Sciences 36: 3:  p. 181-204

Clark, A (2016) Surfing Uncertainty: Prediction, Action, and the Embodied Mind (Oxford University Press, NY)

Corlett PR, Frith CD, and Fletcher PC (2009) From drugs to deprivation: a Bayesian framework for understanding models of psychosis. Psychopharmacology (Berl) 206:4: p.515-30

Corlett PR, Taylor JR, Wang XJ, Fletcher PC, and Krystal JH (2010) Toward a neurobiology of delusions. Progress In Neurobiology. 92: 3 p.345-369

Crowe, S., Barot, J., Caldow, S., D’Aspromonte, J., Dell’Orso, J  Di Clemente, A.,   Hanson, K  Kellett, M  Makhlota, S  McIvor, B  McKenzie, L  Norman, R.,   Thiru, A.,  Twyerould, M., and Sapega, S (2011) The effect of caffeine and stress on auditory hallucinations in a non-clinical sample Personality and Individual Difference 50 :5 :626-630

Feldman H and Friston K (2010) Attention, uncertainty, and free-energy. Frontiers in Human Neuroscience 2: 4 article 215 (doi: 10.3389/fnhum.2010.00215)

FitzGerald, T. H. B., Dolan, R. J., & Friston, K. (2015). Dopamine, reward learning, and active inference. Frontiers in Computational Neuroscience, 9, 136. http://doi.org/10.3389/fncom.2015.00136

Fletcher, P and Frith, C (2009) Perceiving is believing: a Bayesian appraoch to explaining the positive symptoms of schizophrenia. Nature Reviews: Neuroscience 10: 48-58

Friston K. (2005). A theory of cortical responses. Philos Trans R Soc Lond B Biol Sci.29;360(1456):815-36.

Friston, K.,  Lawson, R. & Frith, C.D.. (2013). On hyperpriors and hypopriors: Comment on Pellicano and Burr. Trends in Cognitive. Sciences, 17, 1.p1

Happé, F (2013) Embedded Figures Test (EFT) Encyclopedia of Autism Spectrum Disorders pp 1077-1078

Hohwy, J (2013) The Predictive Mind (Oxford University press, NY)

Merckelbach, H. & van de Ven, V. (2001). Another White Christmas: fantasy proneness and reports of 'hallucinatory experiences' in undergraduate students. Journal of Behaviour Therapy and Experimental Psychiatry, 32, 137-144.

Pellicano E., Burr D (2012) When the world becomes too real: A Bayesian explanation of autistic perception. Trends in Cognitive Sciences. 2012; 16:504–510.  doi: 10.1016/j.tics.2012.08.009

Suzuki, K., Roseboom, W., Schwartzman, D., and Seth, A. (2017) A Deep-Dream Virtual Reality Platform for Studying Altered Perceptual Phenomenology Scientific Reports 7, Article number: 15982 doi:10.1038/s41598-017-16316-2

Want to cite this post?



Clark, A. (2017). Neuroethics, the Predictive Brain, and Hallucinating Neural Networks. The Neuroethics Blog. Retrieved on , from http://www.theneuroethicsblog.com/2017/12/neuroethics-predictive-brain-and.html

How you’ll grow up, and how you’ll grow old

By Nathan Ahlgrim

Nathan Ahlgrim is a third year Ph.D. candidate in the Neuroscience Program at Emory. In his research, he studies how different brain regions interact to make certain memories stronger than others. In his own life, he strengthens his own brain power by hiking through the north Georgia mountains and reading highly technical science...fiction.

An ounce of prevention can only be worth a pound of cure if you know what to prevent in the first place. The solution to modifying disease onset can be fairly straightforward if the prevention techniques are rooted in lifestyle, such as maintaining a healthy diet and weight to prevent hypertension and type-II diabetes. However, disorders of the brain are more complicated – both to treat and to predict. The emerging science of preclinical detection of brain disorders was on display at Emory University during the April 28th symposium entitled, “The Use of Preclinical Biomarkers for Brain Diseases: A Neuroethical Dilemma.” Perspectives from ethicists, researchers conducting preclinical research, and participants or family members of those involved in clinical research were brought together over the course of the symposium. The diversity of panelists provided a holistic view of where preclinical research stands, and what must be considered as the field progresses.

Throughout the day, panelists discussed different ethical challenges of preclinical detection in the lens of three diseases: preclinical research and communicating risk in the context of Autism Spectrum Disorder (ASD), interventions and treatment of preclinical patients in the context of schizophrenia, and the delivery of a preclinical diagnosis and stigma in the context of Alzheimer’s disease. The symposium was bookended, appropriately, by discussions of two diseases that typically emerge at the beginning and end of life: ASD and Alzheimer’s disease. Drs. Cheryl Klaiman and Allan Levey discussed the clinical research of ASD and Alzheimer’s, respectively. Drs. Paul Root Wolpe and Dena Davis framed the clinical research by highlighting the ethical challenges that must be addressed with preclinical research of those diseases. 

Attempting to detect markers of ASD in infants and Alzheimer’s disease in middle aged adults raises distinct ethical challenges; even so, common hurdles arise in both diseases, highlighting the universality of the questions that all preclinical research must address. The shortcomings of current scientific practice were vividly portrayed during the symposium by people who are both involved in the research and touched by these diseases. As is true for many ethical dilemmas, day-long discussions of these ethical concerns did not produce resolutions. The discussion did spawn a consensus, however: transparency in conveying the implications of preclinical research and the options for the patient going forward is critical to ensuring all patients and families are treated with the dignity they deserve. 

Image courtesy of The Blue Diamond Gallery.

Both ASD and Alzheimer’s disease are proliferating in their prevalence and visibility. ASD, a developmental disorder that disproportionately affects boys over girls, is principally characterized by deficits in social communication and repetitive behaviors. It is now estimated that 1 in every 68 children will be on the autism spectrum [1]. Alzheimer’s disease, the most common cause of dementia, is an age-related progressive neurodegenerative disease that is characterized by a progressive loss of memory and other cognitive functions. Furthermore, over 5.5 million people are currently living with Alzheimer’s disease in the United States, and that number is expected to double in the next 20 years. Given the prevalence of both disorders, most of us know someone diagnosed with ASD or Alzheimer’s even if we have not been personally affected by these disorders. 

However, visibility can backfire by putting a spotlight on the frightening implications of an Alzheimer’s disease or ASD diagnosis. One parent of an autistic patient shared how he was forced to deal with the consequences of such fear after consulting a doctor about his son’s social development. Although the pediatrician believed that the child was autistic, the pediatrician refrained from sharing this diagnosis because he could not bring himself to deliver what he deemed a ‘death sentence.’ Only later, after the family received the diagnosis by seeking a second opinion, did the pediatrician disclose the original diagnosis. 

This doctor’s (poor) choice of words and delayed diagnosis were discussed, largely unfavorably, during the symposium. Even so, we can all empathize with the fear of a diagnosis that we do not fully understand. Being given a diagnosis of either Alzheimer’s disease or ASD before clinical symptoms manifest raises the specter of a loss of autonomy. As Alzheimer’s disease develops, a patient can lose his or her autonomy as cognitive functions fail. In addition to the personal loss of control, patients with Alzheimer’s disease are often unfairly stigmatized by their community. Loved ones can fear of becoming a caregiver and prematurely withdraw from relationships. Misinformation about early-stage Alzheimer’s can also jeopardize a patient’s employment long before he or she becomes cognitively impaired. Autonomy can similarly concern parents of a child with ASD. After the diagnosis, parents may feel cornered into lifelong care for their child, who may lack access to community resources and never be able to live independently. Not only that, but the mountains of evidence disproving the role of parenting in ASD development are not always sufficient to protect parents from being blamed for their child’s disorder, either by themselves or their community. 

Of course, the goal of preclinical research is to strike before the disease progresses – before it is too late to intervene. Clinical trials for both ASD and Alzheimer’s suggest that effective treatments rely on early detection, asking researchers to push the current boundaries for preclinical detection and diagnosis. Treatment outcomes in ASD drastically improve the earlier that intervention starts, which is why Dr. Cheryl Klaiman and the Marcus Autism Center are continuing research of behavioral markers that identify differences in the social behavior of infants as early as 6 months of age [2]. 

Artisitc representation of the neurodegeneration and memory

loss that occur in Alzheimer's disease.  Image courtesy

of Flickr user, Kalvicio de las Nieves.

Sadly, all drugs to treat Alzheimer’s disease that were promising in animal models have failed to show any benefit for human patients. FDA-approved drugs taken by patients with Alzheimer’s only act to treat the symptoms, not the disease. And even those few approved treatments do not provide symptom relief for all patients. The repeated failures of Alzheimer’s clinical trials may be a product of intervening too late. Dr. Allan Levey described how the brain pathologies of Alzheimer’s disease – plaques of amyloid-beta and tangles of tau – are developing for decades before any cognitive impairments appear [3]. 

However, pushing preclinical diagnosis earlier and earlier raises several concerns. In favor of early diagnosis is the notion that even when scientists do not have good news, the patient’s (or parents’) autonomy must be respected (see the Belmont Report). Therefore, the ethical course of action would appear to be to inform the patient when a positive diagnosis is present, whether the disease is in a clinical or preclinical stage. Only then can the patient (or family member) make an informed decision about his or her health. 

Dr. Paul Root Wolpe presented a counter-argument against informing a patient in all circumstances: given that the preclinical state is, by definition, before clinical symptoms exist, any preclinical diagnosis is probabilistic. What is the threshold before informing and intervening, 80%? 50%? Is it more ethically responsible to subject a family to intensive and expensive treatment for ASD when it is not present, or to let the disorder go untreated? The Belmont Report’s mandate on beneficence and non-maleficence does not offer a clear answer. When striving to act with beneficence and non-maleficence, preclinical research relies on relative risk. That is problematic, given that Dr. Wolpe believes that humans are not built to understand relative risk. 

The risk for Type I error (a false positive) in the case of preclinical ASD may be negligible. Behavioral therapy designed to help those with ASD has been shown to benefit all children, typically developing or not. Therefore, the only possible harm would be asking extensive time and effort of the family that was not strictly necessary. Still, with the universality of the benefit, one wonders why scientists should bother with early detection for ASD. Integrating such therapy into all classrooms would both provide treatment for the children who needed it and reduce the stigma of being “abnormal” or “other,” since all children would participate in the same experience. 

Image courtesy of Flickr user, Melissa.

Alzheimer’s disease is different. Science has yet to provide an effective treatment for the disease, and thus a preclinical diagnosis cannot initiate a treatment plan. As mentioned previously, the discovery of effective treatments will likely depend on the ability to detect the disease and intervene early in its progression. This order of events unfortunately means the first cohorts of research participants will not reap the benefits of the science they contribute to. The panelists and audience at the symposium were, unsurprisingly, more split on whether they would rather receive a preclinical Alzheimer’s disease diagnosis for themselves than a preclinical ASD diagnosis for their child. Luckily, patients with preclinical Alzheimer’s disease retain full cognitive function, and thus maintain their capacity for autonomy. However, this does not hold true as patients progress from preclinical to clinical Alzheimer’s disease. Changes in personality coincide with [4] or even precede [5] a clinical diagnosis of Alzheimer’s disease, often causing the clinical Alzheimer’s disease patient to have different wishes and beliefs than the preclinical Alzheimer’s disease patient. With this in mind, many audience members voiced the opinion that they would prefer to die before the cognitive symptoms of Alzheimer’s began.

However, Dr. Dena Davis brought more nuance to this idea, saying that our prospective sympathy as healthy individuals – our ability to accurately predict how we will feel once in a disease state – is profoundly flawed. A proponent of the right to die, Dr. Davis painted a troubling portrait of a patient given a diagnosis of preclinical Alzheimer’s disease. Say that person chooses to end his life once he becomes severely cognitively impaired. By the time the impairment has taken hold, he may no longer remember the initial wish, or may completely change mind. Whose wishes are to be honored: those of the clinical patient or those of the preclinical patient? This conundrum was also heartbreakingly described in Lisa Genova’s novel, Still Alice. 

This quandary is why discussions between ethicists, scientists, and patients are necessary. The ability to detect a disease before clinical symptoms appear is a laudable scientific achievement, but knowledge must be put in context of the consumer of those technologies. Without context, scientific discoveries fail to do good, and can often do harm. 

Effective medicine requires support and trust from the community. Two doses of the Measles-Mumps-Rubella (MMR) vaccine are 97% effective against measles, and yet there were 61 cases in the U.S. in the first four months of this year. These cases occurred a full 17 years after endemic measles was effectively eliminated in the U.S. [6], and are primarily a result of poor vaccination rates. A combination of fear of unsafe vaccines, mistrust in doctors, and a lack of belief in the need of vaccinations drove parents away from the established research of the effectiveness and necessity of vaccines. In parallel, fear of stigma and an unwillingness to face the diagnosis of a brain disorder could similarly push patients away from treatments if scientists are not diligent in their education and branding of the research. 

Nathan created this image to be used as the logo for the

April 28th neuroethics symposium. 

The investment of patients enrolled in preclinical research may produce a larger effect size in clinical trials than would ever be practical outside of a research environment due to the self-selectivity of the participants. Only invested parents would enroll their children in studies that demand time and continuing effort. Similarly, only highly self-motivated study participants would stick to a treatment schedule of infusions and lumbar punctures before Alzheimer’s symptoms ever appeared. One symposium speaker was first drawn to participate in the Anti-Amyloid Treatment in Asymptomatic Alzheimer’s (A4) study because of a family member who suffered from Alzheimer’s disease. Personal ties to the research are stronger motivators to patients than any academic rationale scientists can create. If preclinical research for either disease does produce an effective treatment, both scientists and community health partners will need to put forth the additional effort to instill the treatment with broad appeal and accessibility. 

The burden of garnering community support may fall on scientists more than many scientists might like to admit. Our representative participant in the preclinical Alzheimer’s study was quick to say that personal interactions keep him motivated to continue the study. A large part of the reason why he voluntarily receives infusions of a trial drug by Dr. Allan Levey’s team, and is considering doing a lumbar puncture, is because of the people on the team. The need for scientists to consider the ethics of their research is obvious. However, as our representative study participant underscored, scientists’ interpersonal relationships with their patients must also be consciously developed. That is the only way that the resulting research will do any good in the community. 

Scientists are still developing treatments for Alzheimer’s disease and ASD. No magic bullet is likely to ever appear. However, a diagnosis does not need to be a death sentence. Preclinical detection enables intervention before clinical pathology appears, allowing for an ounce of prevention to be applied before a pound of cure is needed. This is not to diminish the years of demanding, often heartbreaking labor that is asked of caregivers of people with Alzheimer’s disease or ASD. What should drive the scientific research and treatment plans? When asking what is good for the patient and his or her family, we as scientists must always remember who we are serving, and what our end goals are. As one parent at our meeting remarked, “we may not have the cure, but we have the care.”

References



1. Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. 2016, Centers for Disease Control and Prevention.



2. Jones, W. and A. Klin, Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature, 2013. 504(7480): p. 427-431.



3. Serrano-Pozo, A., et al., Neuropathological Alterations in Alzheimer Disease. Cold Spring Harbor Perspectives in Medicine:, 2011. 1(1): p. a006189.



4. Mega, M.S., et al., The spectrum of behavioral changes in Alzheimer's disease. Neurology, 1996. 46(1): p. 130-135.



5. Balsis, S., B.D. Carpenter, and M. Storandt, Personality Change Precedes Clinical Diagnosis of Dementia of the Alzheimer Type. The Journals of Gerontology: Series B, 2005. 60(2): p. P98-P101.



6. Katz, S.L. and A.R. Hinman, Summary and conclusions: measles elimination meeting, 16-17 March 2000. J Infect Dis, 2004. 189 Suppl 1: p. S43-7.



Want to cite this post?



Ahlgrim, N. (2017). How you’ll grow up, and how you’ll grow old. The Neuroethics Blog. Retrieved on , from http://www.theneuroethicsblog.com/2017/05/how-youll-grow-up-and-how-youll-grow-old.html

Join us for the Emory Graduate Student Neuroethics Symposium on April 28th, 2017

This spring, the Neuroscience Graduate Program and the Neuroethics Program at Emory University are teaming up to present the 2017 Emory Graduate Student Neuroethics Symposium entitled, The Use of Preclinical Biomarkers for Brain Diseases: A Neuroethical Dilemma. This year’s symposium will focus on the neuroethics of preclinical detection, including discussions of the basic and clinical research being performed and the neurotechnologies being developed for the early detection of autism, schizophrenia, and Alzheimer’s disease. 

The symposium will take place on Friday, April 28th from 10am to 4:30pm at Emory University and is free and open to the public. The symposium will be comprised of three sessions: 

Session 1: Autism, with a focus on the ethics of conducting preclinical research.

Session 2: Schizophrenia, with a focus on the ethics of interventions and treatment.

Session 3: Alzheimer’s disease, with a focus on the ethics of delivering a preclinical diagnosis given the risks for stigma. 

Each session will include input from a patient diagnosed with the disease or family member of someone experiencing the disease, a researcher/clinician, and an ethicist. Speakers will include Dr. Cheryl Klaiman, Dr. Donna Chen, Dr. Dena Davis, Dr. Paul Root Wolpe, Dr. Elaine Walker, and Dr. Allan Levey.

Through this symposium, we hope to highlight the challenges that a patient can face after being given a preclinical diagnosis for a mental disorder, and to underscore the ethical challenges that arise when the ability to detect a future disease outreaches our ability to care for the patient.

You can find more information on our website and in the flyer below, and can register for the event here. We hope you will join us!

The ethical duty to know: Facilitated communication for autism as a tragic case example

By Scott O. Lilienfeld, Ph.D.

Scott O. Lilienfeld is a Samuel Candler Dobbs Professor of Psychology at Emory University. He received his A.B. from Cornell University in 1982 and his Ph.D. in Psychology (Clinical) from the University of Minnesota in 1990. His interests include the etiology and assessment of personality disorders, conceptual issues in psychiatric classification, scientific thinking and evidence-based practice in psychology, and most recently, the implications of neuroscience for the broader field of psychology. Along with Sally Satel, he is co-author of Brainwashed: The Seductive Appeal of Mindless Neuroscience (2013, Basic Books).

I’m a clinical psychologist by training, although I no longer conduct psychotherapy. In the course of my graduate work at the University of Minnesota during the 1980s, I – like virtually all therapists in training – learned all about the ethical mandates of clinical practice. By now, all mental health professionals can practically recite them by heart: don’t sleep with your clients, avoid dual relationships, don’t show up drunk to work, don’t violate client confidentiality, always report child abuse and elder abuse to appropriate authorities, and so on. To be sure, all of these ethical requirements are exceedingly important.

Yet, with few exceptions, clinical psychology and the allied fields of mental health practice, such as psychiatry, social work, mental health counseling, and psychiatric nursing, have largely neglected another crucial set of ethical requirements, namely, what University of Nevada at Reno clinical psychologists William O’Donohue and Deborah Henderson term epistemic duties – responsibilities to seek out and possess accurate knowledge about the world. As these authors pointed out in a 1999 article, all mental health professionals should be “knowledge experts.” That is, they should be specialists who keep up with the best available research literature on the efficacy of psychological interventions and the validity of assessment procedures, and who continually draw on this information to provide the best possible client care. As O’Donohue and Henderson observe, mental health professionals are also ethically obligated to be relentlessly self-critical. Ideally, they contend, “one acknowledges that one’s beliefs may be in error and one seeks to rigorously criticize one’s beliefs to see if they are in error or are in need of revision.”

For far too long, the fields of mental health have ignored the somber duty of mental health professionals to act in accordance with rigorous scientific evidence. A decision to do otherwise is commonly regarded as a preference, not a serious ethical breach. The tragic case of facilitated communication for severe developmental disabilities reminds us of why epistemic duties are every bit as crucial as the other ethical obligations with which psychologists and psychiatrists are familiar.

The story begins in 1977 in St. Nicholas Hospital, an institution for individuals with intellectual and physical disabilities in Melbourne, Australia. There, a staff member named Rosemary Crossley developed a technique—originally called facilitated communication training—for purportedly extracting communication from individuals with serious physical disabilities, such as cerebral palsy, that often prevented individuals from speaking. Soon, the seemingly remarkable technique was extended to other conditions, most notably autism, now termed autism spectrum disorder. The premise of FC was straightforward: Contrary to what mental health professionals had long assumed, nonverbal people with autism are actually of reasonably normal intelligence. Nevertheless, they cannot express themselves verbally due to a neurological condition known as “developmental apraxia,” a purported disconnection between the brain’s language and motor centers. According to this theory, autism is fundamentally not a mental disorder, as psychologists had presumed, but a movement disorder. As a consequence, individuals with this condition are cognitively intact people trapped in a malfunctioning body. With the assistance of a facilitator who stabilizes the person’s hand and arm movements, the individual with autism can now suddenly type out words and sentences using a keyboard, letter pad, or similar medium.

Example of a keyboard used in facilitated communication,

courtesy of Wikipedia

In 1989, Douglas Biklen, a sociologist and Professor of Special Education at Syracuse University, observed Crossley’s methods and announced the startling news of facilitated communication’s effectiveness for autism in an influential 1990 article. According to Biklen, with the help of facilitated communication, many individuals with autism who were previously presumed to be mute and severely cognitively impaired could now communicate eloquently. Many composed poetry that told of their profound joy at being liberated from a prison of silence. Parents’ and other loved ones’ dreams of communicating with their nonverbal children were at last realized.

News of the stunning breakthrough reached schools throughout the United States, and it was not long before thousands of facilitators began administering the technique in classrooms. Scores of children with severe autism were mainstreamed into schools, excelling in classes with the aid of facilitators. Workshops in facilitated communication were offered to enthusiastic audiences. Facilitated communication was widely heralded as a “miracle” in the treatment of autism and related conditions, and for good reason.

To many skeptics, though, facilitated communication seemed too good to be true. How could children who could not read – and whose IQs were often estimated to be below 30 or 40 - suddenly use advanced language that conveyed remarkably mature thoughts and emotions? Where would they have learned this language? And given that many of them could draw, paint, or throw, why did they need a facilitator to stabilize their hand movements? Biklen and his colleagues were convinced that facilitated communication worked, yet they had conducted no formal research to support their expansive claims.

When controlled studies finally began to appear in the pages of academic journals in the early to mid-1990s, the scientific verdict was unanimous – and devastating. These investigations demonstrated persuasively that the apparent effectiveness of the technique was a diabolical illusion. When facilitators and children with autism were shown different stimuli, such as a dog versus a cat, the word typed out always corresponded to what the facilitator saw, not to what the child saw (see this classic video for a powerful expose of facilitated communication). The “effectiveness” of facilitated communication is therefore attributable to what psychologists term the “ideomotor effect”: a phenomenon whereby people’s thoughts influence their actions without their knowledge. Without being aware of it, facilitators themselves were guiding individuals’ hands and fingers to the intended letters.

Moreover, a dark side of facilitated communication soon emerged. Although precise numbers are hard to come by, dozens of parents were charged with sexual abuse solely on the basis of facilitated allegations from their children. Many of these parents were removed from their homes, and some were jailed or imprisoned, their reputations permanently tarnished. Yet we now know from controlled research that these accusations emanated from the minds of the facilitators, not the children.

The facilitated communication debacle took an even more sickening turn when Anna Stubblefield, a Professor of Philosophy at Rutgers University in Newark, a major proponent of the technique, met D.J., a 31-year old man who has the mental capacity of an 18-month-old, according to his doctors. D.J. has never uttered a word and requires specialized assistance to bathe, dress himself, and eat. Stubblefield began using facilitated communication to communicate with D.J. After a time, they “expressed their love” for each other, and eventually had sexual intercourse in her campus office. Of course, the sex was not consensual, as D.J.’s communications were not his own. In January of 2016, Stubblefield was convicted of aggravated sexual assault and sentenced to 12 years in prison; the case is being appealed.

Ouija board, image courtesy of Wikipedia

Tragically, Stubblefield and other proponents of facilitated communication had forsaken their epistemic duties in at least three ways. First, the ideomotor effect had been familiar to psychologists for well over a century. Such supposedly “occult” phenomena as Ouija boards, automatic writing, table-turning during séances, and water dowsing had long been recognized as the products of unconscious cueing and prompting of responses.

Indeed, while she was a graduate student at Harvard University under the mentorship of the great psychologist William James, Gertrude Stein – later to become a famed author –penned two articles on the ideomotor effect. Had facilitated communication advocates done their homework and taken heed of this well-replicated but insidious effect, they would presumably have been aware of how readily we can all be duped by it.

Second, from the outset, Biklen and other facilitated communication advocates never troubled themselves to conduct controlled studies to ascertain whether the method worked. Furthermore, when the negative data finally poured in from scores of laboratories, the advocates almost always explained away these findings using a plethora of ad hoc excuses. For example, some insisted that controlled studies of facilitated communication were essentially worthless because they placed participants in a “confrontational” situation, making them feel pressured to perform. Yet many of these individuals had successfully given facilitated “performances” at academic conferences, typing sentences in the presence of hundreds of amazed spectators.

Third and finally, Biklen and other facilitated communication advocates had failed in their obligation to be self-critical. Rather than ask themselves whether their claims might be wrong, they reflexively criticized the critics, dismissing their methodology on flimsy and unpersuasive grounds.

Ultimately, the proponents of facilitated communication very much wanted to help individuals with autism. But the facilitated communication tragedy teaches us that good intentions are not sufficient. Good intentions paired with grossly inaccurate knowledge and an absence of a self-critical mindset can be disastrous. This tragedy also teaches us that by not attending to their epistemic duties, professionals can do grave harm without intending to do so.

Want to cite this post?



Lilienfeld, S.O. (2016). The Ethical Duty to Know: Facilitated Communication for Autism as a Tragic Case Example. The Neuroethics Blog. Retrieved on , from http://www.theneuroethicsblog.com/2016/03/the-ethical-duty-to-know-facilitated.html

Disease or Diversity: Learning from Autism

by Jillybeth Burgado



The following post is part of a special series emerging from Contemporary Issues in Neuroethics, a graduate-level course out of Emory University’s Center for Ethics. Jillybeth is a senior undergraduate double majoring in neuroscience and behavioral biology and religion. She hopes to pursue a PhD in neuroscience after working as a research assistant after graduation.

Chipmunka Publishing 

The idea that variation in behaviors arises through natural differences in our genome was popularized in the 1990s and termed “neurodiversity.” Led in large part by autism spectrum disorder (autism) activists, this movement challenged the established notions of autism as a disease that needed to be eradicated, championing the acceptance of a wide array of neural differences in the population. Rejecting terms such as “normal,” proponents of neurodiversity questioned common messaging and goals of research organizations (e.g. autism is not something that needs to be eradicated or “cured”). In this post, I briefly summarize the neuroethical concerns of ground-breaking neuroscience research, with particular focus on autism diagnostic research. I will then introduce a less well-known movement, Mad Pride, and discuss how we can apply some of the concepts and lessons from the autism and neurodiversity movements to understand and evaluate the claims of those involved with Mad Pride.



Autism is a developmental disorder characterized by challenges with social interactions as well as with verbal and nonverbal communication (Walsh et al., 2011). Importantly, autistic phenotypes are quite diverse, making diagnosing individuals a difficult task. Patients are typically diagnosed by psychiatrists who employ screening tools, such as the Modified Checklist of Autism in Toddler (M-CHAT), and psychological interviews and exams that evaluate the development of speech, social, and intellectual behaviors. However, advances in genetic and neurological understandings of autism may be increasing the room for more biological methods of diagnosis (Pellicano & Stears, 2011). The search for biomarkers that can be used to predict, diagnose or develop treatment and intervention programs has slowly moved forward in the past decade. Genetic variations that may explain susceptibility are an exciting but difficult area of research due to low predictive reliability and generalizability (Walsh et al., 2011). Conversely, brain scans (such as MRI) and electroencephalography (EEG) have proven to be promising techniques in predicting and/or diagnosing autism. In particular, MRI and diagnostic algorithms use structural differences in the brain associated with autism to diagnose individuals, with accuracy ranging from 80 to 90% in some studies (reviewed in Walsh et al., 2011). Similarly, EEG used in infants has been able to predict autism with 80% accuracy (Walsh et al., 2011). In the future, these techniques may be able to replace or supplement long, exhaustive interviews among psychiatrists, children and parents. Furthermore, this research may provide better and more detailed information about the neurological processes of the autistic brain and better therapeutic strategies.



This research is promising but not without significant ethical issues. Many autistic individuals and their families argue that autism is not a disorder or disability, but rather a different way of being. In particular, these advocates remind researchers and doctors that the challenges associated with the disorder are frequently paired with certain strengths, such as focus and perception, strengths that are valued in particular fields and social contexts (Pellicano & Stears, 2011; Walsh et al., 2011; PBS, 2013). More importantly, autistic personalities are viewed as part of a continuum that can eventually fit into society if we allow it to do so. Interestingly, advocates of neurodiversity also lie on a spectrum of perspectives: some individuals value neurobiological research and its interest in providing treatment and therapeutic options whereas others hold the position that autistic individuals should not be changed. The latter position stands at odds with the mission statements of governmental funding agencies. For example, the mission statement for the U.S.’s National Institute of Mental Health (NIMH) states that the organization’s purpose is “to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery, and cure” (NIMH, 2008).



Moreover, the search for biological markers of autism introduces ethical concerns because it is frequently associated with the desire to cure or fix autistic people. Earlier detection of autism is beneficial to individuals and their families because it can allow for better and more efficient treatment options. However, improved diagnostic techniques can also become the foundation for determining and treating what is wrong with the autistic brain, consequently pathologizing autism and distinguishing the normal individual from the autistic one. Importantly, some behavioral components are detrimental to the well-being of an autistic person and cause significant distress. Many argue that these characteristics should be treated by physicians or psychiatrists in order to alleviate the autistic person’s pain. Nonetheless, many autistic characteristics are only detrimental to individuals because of established social norms. If we can decrease these social stigmas and teach acceptance of “different” behaviors, then autistic individuals may be able to become more integrated members of the community. A wide array of other ethical concerns exist in the autism and neurodiversity conversation, including issues regarding preventative methods during pregnancy or early childhood and treatment options and availability (these concerns are not addressed here).



Looking inside the brain has introduced specific ethical concerns that must be addressed by scientists, the general public, and physicians in regards to autism research. For example: What/who should be treated? What is a disorder and what is part of neurodiversity? How should advances in diagnostic methods and treatment be viewed and used by the research community and general public? Should research continue to focus on changing the affected individuals? Here, I propose that these same questions and concerns can also be applied to mental illnesses such as depression, bipolar disorder, and psychosis.



Depression, bipolar, and psychosis, like autism, are not clearly diagnosed using biomarkers and their phenotypes vary greatly in the population. Two individuals diagnosed with depression may experience very different distresses. Recent advances in neuroscience research have opened the possibility for a larger role of neurological methods in predicting, diagnosing, and treating of mental illnesses. Like advocates interested in autism, individuals with mental illnesses have also adopted the neurodiversity movement. For example, Mad Pride, a loosely organized movement in numerous countries, including the US, Canada, Australia and the UK, aims to bring awareness and acceptance of people who in the past or present classify themselves as having a mental illness. Interestingly, some individuals participating in Mad Pride argue that these categories of mental disorders are not disorders at all, rather they represent typical variation in the population. They further assert that some potential strengths are associated with mental illness, such as creativity and new perspectives.



The main question at hand is whether psychiatrists and therapists should attempt to treat, and therefore normalize, those with depression, bipolar disorder, and schizophrenia. The answer to this question will in turn influence how neurological findings are accepted by those diagnosed with mental illnesses as well as affect the way mental illness research is designed and conducted. The Mad Pride movement example provides an interesting and relatively new perspective on the “illness” component of “mental illness,” one that may continue to raise questions about neurodiversity and the distinction between disease and difference.



References:



Pellicano, E., & Stears, M. (2011). Bridging autism, science and society: Moving toward an ethically informed approach to autism research. Autism Research, 271–282. http://doi.org/10.1002/aur.201 



Walsh, P., Elsabbagh, M., Bolton, P., & Singh, I. (2011). In search of biomarkers for autism: scientific, social and ethical challenges. Nature Reviews Perspectives, 12: 603-612. Retrieved from http://dx.doi.org/10.1038/nrn3113



Want to cite this post?



Burgado, J. (2015). Disease or Diversity: Learning from Autism. The Neuroethics Blog. Retrieved on , from http://www.theneuroethicsblog.com/2015/05/disease-or-diversity-learning-from.html

Ethics, Genetics, and Autism: A Conversation with Dr. Joseph Cubells

Dr. Joseph Cubells

Dr. Joseph Cubells is an Emory psychiatrist who focuses on working with adults with developmental and behavioral disorders, especially Autism Spectrum Disorders (ASD). He is on the cutting edge of using molecular genetics to identify genetic anomalies in his patients with the aim of improving and refining treatment packages. I spoke with Dr. Cubells about his work and the ethical implications of the use of genetic microarray tests with patients. After providing more details about how he uses molecular genetics in his practice, I will focus on our discussion of two primary issues related to his work: (1) the communication of genetic testing procedures and results to families and, (2) the role of health care systems in the widespread use of these tests. 

Dr. Cubells is primarily engaged in clinic work. He has over 200 cases and works exclusively with adults (he does not see patients under the age of 16). Molecular genetics is one technique used in his patient management strategies: “I am very interested in the role of molecular genetic testing in the care of people with neurodevelopmental disabilities. Not so much establishing a diagnosis of autism though because autism is a behavioral diagnosis.” In other words, because there is no genetic or otherwise biologically based test currently available for autism, Dr. Cubells and his team are interested in diagnosing other genetic differences, such as Phelan McDermid Syndrome which occurs when a chromosome is deleted after conception (de novo) and can lead to a variety of physical and developmental disabilities. This condition, and many other genetic anomalies, may contribute or directly lead to the development of autistic characteristics. Most professionals, including myself and Dr. Cubells, now agree that there is not a single ‘autism’ but, rather, many different ‘autisms’ with many different causal pathways, both genetic and environmental.

Last November, Dr. Cubells and his team presented a paper on their use of molecular genetics in direct patient care at the American Society for Human Genetics. They sent chromosomal microarray tests¹ to be analyzed for 44 of their patients. Seven of these tests “came back with definitely clinically relevant differences that had not been previously diagnosed.” This is a rate of 16%, which, for Dr. Cubells, is “a substantial and important rate.” This rate may seem small but the impact of these findings are critical. For example, among those seven, one adult male’s test showed a deletion of the monoamine oxidase (MAO) A and B gene. This effects of this deletion are similar to the effects of taking a MAO inhibitor (MAOI), a type of pharmacological treatment for depression. Both this medication and this genetic deletion can lead to a fatal hypertensive crises if a person consumes tyramine (found in many aged or fermented foods, foods high in protein, and some alcoholic beverages) or in the presence of sympathomimetic drugs, which mimic transmitters such as catecholamines (i.e., epinephrine, norepinephrine, and dopamine). Because this genetic deletion was identified, the patient now wears a medic alert bracelet stating that he must be treated as a patient on a MAOI to avoid unexpected drug reactions. This knowledge is potentially life-saving.

These microarray genetic analyses can help refine patient management; however, the actual purpose and results of tests are difficult to accurately communicate to families. Dr. Cubells related another story of an adult who has significant autistic characteristics for whom his team identified another type of anomaly: a 15q13.3 deletion for which a small part chromosome 15 is deleted in each cell. They discovered that this participant’s mother has the same deletion, however, unlike her son, does not show any of the developmental delays. The man’s grandmother, however, also has the deletion and exhibits some developmental delays. This patient’s cousin is recently married and is wondering if he should be tested for this deletion. I asked Dr. Cubells what, in cases like this, a genetic counselor or clinician is ethically responsible to communicate to families regarding the implications of obtaining the tests and the implications of the results. This issue is an important concern for eventual pre-natal diagnoses of autism as well as for the project I am working on as the current Neuroethics Program Scholar, which involves considering the implications of using eye-tracking technologies for early, presymptomatic screening of ASD.

The gene copy number (also "copy number variants" or CNVs) is the number of copies of a particular gene in the genotype of an individual.

Dr. Cubells responded that “the first thing you have to make clear is there is a lot of uncertainty.” For cases like the one described above, he would start by explaining that the test will only tell him whether he carries the deletion. If he does not, then there is an “infinitesimally small” likelihood that his future children would have that deletion. However, if he does carry the deletion, things are a much more complicated. There is a big chance that this gentleman’s children would have learning or developmental difficulties, however, as the patient’s mom exemplified, there could also be no discernible influence. “And so the range of possibilities ranges from very challenging to fine.” Regardless, at this stage, Dr. Cubells believe that with this particular chromosomal variation, or copy-number variant (CNV), there are “reasonable odds” that there will be challenges but the field is not ready to be quantitative about it. This is the kind of information, he says, of which genetic counselors must be aware.

There are significant differences in the understanding of risk between the lay public and professionals.² Explaining probabilities to patients or families is difficult, but Dr. Cubells urges that the physician’s role is “to be helpful when he can and to give them [the family and patient] as much information as he can to explain things.” This information should include an explanation of the meaning and difference of variable penetrance and variable expressivity. The former is the proportion of people who carry a particular gene that also expresses and particular trait, or phenotype. The latter describes the differences within this expression, or the ranges of phenotypes linked to a particular gene or genetic anomaly. This information is often confusing for patients and families to understand. It is critical that patients understand these terms in order to  consent to taking part in a microarray test and for comprehending the consequences of test results. Given that the responsibility of making decisions lies with the patient and family, this information needs to be communicated clearly and reliably.

We also discussed issues related to the cost of these genetic arrays and resource allocation. Dr. Cubells explained that genomic micro-arrays cost, at a minimum, around $800. If the company wants to stay in business and possibly make a profit, then they need to charge around $1400. He admits that this amount of money can be also used towards valuable and efficacious behavioral or psychological treatment. And so where should we put our resources? He admits that, despite the obvious benefits of the work he is doing, he is “ambivalent about pushing the importance of genetics in autism because [he] spends a lot of time explaining what ought to happen but the resources aren’t there.” This is a large debate in the field. Many self-advocates and family members struggle, knowing that there is a lack of funding for research on quality of life issues and services, especially for adults who lose a host of services, such as instruction on daily living skills as well as occupational and speech therapies, once they age out of the public school system at the age of 21.³

“But on the other hand,” Dr. Cubells explains, “we do need to understand things at the level of etiology. We need to know if a person has Phelan McDermott versus 15q versus 22q11⁴ because even now there are clinical implications for that.” Dr. Cubells sees a problem in the lack of reimbursement for genetic counselors who see patients with psychiatric problems; insurance companies do not have to pay for this kind of consultation. He says this situation needs to change, but the only way this change will happen is for politicians and professionals to work towards changing the minds of insurance and health care administrators. 

Cost is a real barrier to access to emerging medical technologies like this for many families. This means that critical information will potentially not be available to many patients unless these tests become a mandated part of health care coverage. It is also possible that tests like these will become part of standard pre-natal check-ups, in which case a host of other ethical concerns arise. Disability activists, especially those adherent to neurodiversity, see pre-natal diagnostics of disabilities as an attempt to eradicate disability and difference from the human population—a eugenic enterprise. Additionally, as was discussed in my last post, cultural and faith-based backgrounds of families may mean less acceptance of the use of these technologies. Families may rely on more spiritually-based explanations of disabilities and so may not be open to discussions of genetic causes, which can be seen as more chronic and stigmatizing. Finally, for many of the genetic anomalies identifiable by these tests, no reliable treatments are available. There are educational and behavioral therapies for autism and related disorders; however, there is no guarantee that any intervention will dramatically change behavior or if, given the variability of autistic manifestation, any intervention will even be necessary! These issues will be discussed more fully in my next blog post, where I describe the impact of the use of eye tracking technologies to identify autistic markers in infancy. 

This discussion reminded me of a recent op-ed in the New York Times in which the columnist, Nicholas Kristof, called for more attention in the media and government on mental health. We may be working in the right direction as the Affordable Care Act does include mental health care, but costs remain high and the consequences of these costs are having real effects on real lives. Bringing the impact of psychiatric, intellectual, and developmental disorders has on the quality of life of diagnosed individuals and their families into the public realm is imperative to obtaining more funding for services and more research on how to develop, implement, and distribute these services most effectively. As genetic testing and prescreening for psychiatric conditions continues to become more advanced, I agree with Mr. Kristof and Dr. Cubells. Improving coverage for psychiatric services should be a high priority issue for politicians, health care administrators, scientists, physicians, and, most importantly, families.

Dr. Joseph Cubells is a psychiatrist whose clinical and research interests lay in molecular genetic factors of developmental and behavior disorders, such as autism, schizophrenia, and major depression. He is the Medical Director and Attending Psychiatrist at the Emory Autism Center where he work with adults on the autism spectrum and with genetic and chromosomal disorders that lead to various psychiatric disorders.

References

1. A chromosomal microarray test is a new method of detecting alterations in a person’s DNA. Specifically, these tests look for areas on the DNA with too many or too few copies of genetic material. This method is more specific than earlier genetic tests, thereby allow for more exact maps of the DNA and, ostensibly, the ability to identify more anomalies. For more information, see The American College of Obstetricians and Gynecologists’ Committee Opinion on the use of this test in prenatal diagnosis here: http://www.acog.org/Resources_And_Publications/Committee_Opinions/Committee_on_Genetics/The_Use_of_Chromosomal_Microarray_Analysis_in_Prenatal_Diagnosis.


2. For example, see: Hamepl, J. (2006). Different concepts of risk - A challenge for risk communication. International Journal of Medical Microbiology, 296(S1): 5-10; Miller, A.M, Hayeems, R.Z, & Bytautas, J.P. (2010). What is a meaningful result? Disclosing the results of genomic research in autism to research participants. European Journal of Human Genetics, 18: 867-871; McMahon, W.M., Baty, B.J., & Botkin, J. (2006). Genetic counseling and ethical issues for autism.  American Journal of Medical Genetics Part C (Semin. Med. Genet.), 142C: 52-57; Slovic, R. (1987). Perception of Risk. Scienze, 236(4799): 280-285.


3. For more explanation of this perspective, see this report by the Autistic Self Advocacy Network (ASAN), “ASAN expresses concern regarding new HHS report on autism research” at http://autisticadvocacy.org/2012/07/asan-expresses-concern-regarding-new-hhs-report-on-autism-research/.


4. These are all genetic disorders associated with autistic phenotypes. Phelan-McDermid is “the result of a disruption of the SHANK3/ProSAP2 gene on the terminal end of chromosomee 22,” according to the website for the Phelan-McDermid Syndrome Foundation (www.22q13.org). 15q  and 22q11 refers to partial deletions of chromosomes 12 and 22 that leads to a variety of developmental disorders.

Want to cite this post?



Sarrett, J. (2014). Ethics, Genetics, and Autism: A Conversation with Dr. Joseph Cubells. The Neuroethics Blog. Retrieved on , from http://www.theneuroethicsblog.com/2014/04/ethics-genetics-and-autism-conversation.html