This post has been contributed by Darren Eblovi, MD, MPH and Christopher Clardy, MD.

In 1961, J.C.P. Williams described four patients with common atypical facial features, heart defects, and intellectual disability. Williams syndrome, as this condition has since been named, is caused by a genetic deletion and causes moderate intellectual disability with relatively strong language skills and a hyper social personality.

One hundred and twenty years prior to Williams’ article, Charles Dickens published Barnaby Rudge, a novel that follows the “light-hearted idiot” Barnaby Rudge through London’s deadly anti- Catholic Gordon Riots of 1780. Barnaby, a 27-year-old man living with his widowed mother, is duped into engaging with the riot’s ringleaders, which nearly results in his hanging. Despite his ability to produce grammatically correct soliloquies of advanced vocabulary, both Dickens and other characters describe Barnaby as an “idiot” (p. 37), “an animal” (p. 111), with the “absence of soul” (p. 35) and “blindness of intellect” (p. 377), and even as God’s “most slighted and despised work” (p. 208). Although Dickens died decades before the concepts of genetic deletions were described, it is our position that the character of Barnaby was based on a person whom Dickens knew with this specific deletion. This article describes how Barnaby’s character embodies decades of extensive social and psychological research on Williams syndrome.

The typical IQ range among people with Williams syndrome is 42 to 68, and the vast majority remain dependent on caregivers for their entire lives. Despite his fluent speech and apt social abilities, Barnaby remains dependent on his mother, requiring her “care and duty in his manly strength as in his cradle time” (p. 154). Barnaby’s mother reflects frequently on his “dawn of mind” that never came, and how “his childhood was complete and lasting” (p. 209).

Despite the inability to live independently, people with Williams syndrome typically demonstrate ease in using complex syntax and even show a proclivity for unusual words. Multiple studies find they understand grammatical structures and use correct tense, although responses are often perseverative. In a discourse about his shadow, Barnaby announces:

He’s a merry fellow, that shadow, and keeps close to me, though I am silly. We have such pranks, such walks, such runs, such gambols on the grass. Sometimes he’ll be half as tall as a church steeple, and sometimes no bigger than a dwarf. Now he goes on before, and now behind, and anon he’ll be stealing slyly on, on this side, or on that, stopping whenever I stop, and thinking I can’t see him, though I have my eye on him sharp enough. (p. 56)

In addition to their relatively advanced grammar and vocabulary, people with Williams syndrome tend to use more emphatic markers in conversation. When asked if he would join the anti- Catholic movement, “Barnaby, trembling with impatience, cries ‘Yes! Yes, yes I do,’ as he had cried a dozen times already” (p. 397). Additionally, people with Williams syndrome typically exhibit more empathy, are more willing to approach strangers, and show a clear attunement to others’ emotions. Barnaby, consistent with this description, is “known along the road by everybody” (p. 92), and “the children of the place came flocking round him” (p. 209).

Superficially strong skill in communication and excessive sociability can give the impression that adults with Williams syndrome are more able than they actually are. In the novel, this assumption is made by both an abrasive gentleman who accuses Barnaby of pretending to be disabled in order not to work, and by Lord George Gordon himself when accepting Barnaby into his movement: “He has surely no appearance of being deranged? And even if he had, we must not construe any trifling peculiarity into madness” (p. 400).

Unfortunately, this language skill and hyper social personality makes people with Williams syndrome susceptible to being taken advantage of. In one survey, many parents of adults with Williams syndrome reported that their offspring’s over affectionate manner and naiveté exposed them to serious risk of exploitation and abuse. Years before he is led enthusiastically into the riots, a friend warns of Barnaby’s overly trusting manner: “I tremble for the lad – a notable person, sir, to put to bad uses” (p. 220).

Another reason people with Williams syndrome are overly trusting is their inability to interpret nonliteral utterances and to determine the difference between lies and ironic jokes. In being convinced to join the movement, Barnaby neglects to notice the “many nods and winks” (p. 406) passed between Hugh and Dennis, two riot leaders. People with Williams syndrome are often easily distracted and have difficulty maintaining the topic of conversation, which adds to their vulnerability. In addition to “yielding to every inconstant impulse” (p. 207), Barnaby’s distractibility is demonstrated when Hugh and Dennis easily make him forget that they are about to attack the house of one of his friends: “The look of mingled astonishment and anger which had appeared in his face when he turned towards them, faded from it, as the words passed from his memory, like breath from a polished mirror” (p. 441).

It is perhaps their susceptibility to exploitation that leads people with Williams syndrome to also be prone to persistent fears, specific phobias, and general anxiety. Multiple studies indicate children with Williams syndrome have high rates of anxiety, and about half meet criteria for specific phobia. One family reported their child with Williams syndrome was unable to overcome a persistent and debilitating phobia of balloons. Barnaby, despite his eagerness to participate in the riots, is described as having an “eager and unsettled manner” (p. 35), a “terror of certain senseless things” (p. 37), and a “terrible restlessness” (p. 51). In one instance, he experiences “such an ecstasy of terror that the locksmith could scarcely endure to witness his suffering” (p. 37).

Finally, Dickens describes Barnaby as being “elfin-like in face” (p. 209), a description commonly used to characterize the wide mouth, small upturned nose, widely spaced teeth, and full lips of people with Williams syndrome.

Although these common characteristics would indicate that Barnaby’s character was indeed based on a person with Williams syndrome, Dickens could not have understood the genetic cause. However, Dickens does describe how “before [Barnaby’s] birth, his darkened intellect began” (p. 209), indicating, in language consistent with the scientific understanding of 1841, that Barnaby’s condition was congenital rather than acquired.

As the human genome continues to be more precisely cataloged, the field of medicine must continue to draw upon the skills of minds such as Charles Dickens. Although fiction may not provide us with biologic mechanisms, subtle behaviors and characteristics described by keen observers may contribute to the diagnosis and treatment of patients suffering from genetic syndromes that have yet to be described.

References

1. Dickens C. Barnaby Rudge. London, UK: Penguin Books; 2003.
2. Eblovi, D.E., & Clardy, C. Charles Dickens and Barnaby Rudge: The First Description of Williams Syndrome? Pediatric Annals, 2016; 45(2): e67-e69.

The full article can be found here: http://www.healio.com/pediatrics/journals/pedann.