Tag Archives: schizophrenia

Arts & Entertainment, Film & TV

In “Hidden Pictures,” a Mental Health Doc Confronts Global Stigma

1 Comment

Sonal is in a private garden, tugging at her necklace; a weariness in her eyes, she tells us, “I sometimes think, Is there a monster in me?” She’s a young woman with thick black hair and a kind face softened by big brown eyes. She lives in New Delhi with her mom, who worries that her daughter won’t find a husband. Sonal leaves home only when her mom takes her — over two hours each way — to see her psychiatrist: Sonal has schizophrenia.

In Hidden Pictures, physician and Seattle filmmaker Delaney Ruston takes us around the world and introduces us to individuals like Sonal who live with mental illness. The film screened at STIFF in early May, and was voted “most moving documentary” by the festival’s judges. Ruston says it will air on PBS stations soon. (Her documentary, Unlisted: A Story of Schizophrenia, which recounted her experience of her father and his schizophrenia, also aired on PBS.)

Delaney Ruston

Through her lens we travel to five countries: India, South Africa, China, France, and the United States. We see glimpses of what life is like with a mental disorder, and how mental illness is viewed and treated in different parts of the world. The film is a patchwork of people with varying illnesses in assorted cultures, and as the personal stories unfold, we see that stigma permeates all borders. In this pioneering documentary, Hidden Pictures exposes us to an intimate view of mental illness on a global level.

In South Africa we meet Buyisva who has been diagnosed with depression and bipolar disorder. Like Sonal, she isolates herself from her community. “Maybe they will laugh,” she says. On the other hand, in Beijing, Tang Lei (“Jeff”) has been institutionalized for eight years with a diagnosis of schizophrenia, though he doesn’t appear to have a mental disorder.

Comparatively, France has one of the best health care systems in the world. All mental health care costs are covered, including therapy sessions for family members, but despite tremendous federal support, societal stigma remains. To treat his depression and anxiety, Steve spends six months at an inpatient hospital on the government’s dime, but after his recovery, he feels he has to hide his mental illness to find work. Steve’s mom doesn’t know what to tell people about her son so she avoids social events. The barnacle of shame that clings to mental illness affects more than the afflicted.

Anecdotally at least, it’s apparent that stigma against mental illness runs rampant. Regardless of culture, the shame associated with mental disorders exists in all demographics. Ruston “found it nearly impossible to find someone affected by mental illness — even leaders in mental health activist groups” she told Global Pulse, who was “willing to appear on-camera.” Stigma, Ruston concludes in her film, is found in “poor countries, rich countries, and countries known for strong family ties.”

Over 450 million people across the globe have a mental illness, but this number only represents incidences that have been reported, notes the World Health Organization. Almost half of those reported to have a mental disorder live in a country where there is one psychiatrist or less to serve 200,000 people. That’s like eight psychiatrists serving the 1.6 million people living in Manhattan, explains Global Pulse’s Emily Judem: “Worldwide spending on mental health is less than US$2 per person, per year. In low-income countries, that number drops to less than 25 cents per person, per year.”

In fact, claims mental health advocate Vikram Patel, “the treatment gap between developing and developed countries is 90%, and 50% of people in Europe don’t get care.”

If you see Hidden Pictures, it will be hard to ignore the role that stigma plays in the dire state of global mental health care. The degree of support that can be provided hinges on how high the stigma barrier climbs. Ruston aims to arm viewers with the knowledge and awareness needed to continue to break down the stigma barrier. The shame and misunderstanding surrounding mental illness must be dispelled, she argues, for effective progress to be made worldwide.

Health, News, Science

Gene Sequencing Starts to Illuminate Autism’s Spectrum

O'Roak on an escape from the lab

“Autism is not really one thing,” explained geneticist Brian O’Roak, in describing why, despite evidence of a genetic basis for autism, there’s yet no “autism gene” fingered as the culprit. O’Roak is a postdoctoral fellow with the Eichler and Shendure labs at the University of Washington, and his research involves a good deal of high-tech detective work.

His latest paper, reporting new findings from exome sequencing, was published in the May 2011 issue of Nature Genetics. They were testing the hypothesis that sporadic, protein-altering mutations were linked to sporadic cases of autism, and the initial results (from a small sample) are promising–they may have found a good way to begin to map out a spectrum of genes involved in producing the autism spectrum.

O’Roak and I were sitting on the patio of the Vista Café, on UW campus, at the UW’s $150 million genomic sciences headquarters, the William H. Foege Building. Everything is new and gleaming, and even the café furniture boasts shiny metal finishes that give you the impression they’re suitable for al fresco lab work.

O’Roak is soft-spoken and mutton-chop-sideburned, and unfailingly courteous. Before we begin the interview, he cautions me to remember the deep, personal impacts of autism for many, and not mislead with a headline that promises a cure within the year. (As it happens, I’m aware of the first part, having an older brother who is autistic.)

The results of his latest work, while giving his team the impression they’re on the right track, are still the results of a pilot study. They’re in the midst of a larger effort to confirm their initial findings.

Technological advances in gene sequencing are both heartening–“For about a year now, this technology has been available where you can actually look at the entire genome through the exome, and do it in an unbiased way”–and humbling: The joint forces of genetic heterogeneity and phenotypic heterogeneity create universes of possible outcomes in any given individual. That is, there are genes, and then there’s what the genes do, and their interrelations are very, very complicated. At the moment, it’s estimated that, of the genetic factors that cause autism, some 70 percent of those remain unknown.

To tease apart some of those interactions, O’Roak, et al, turned to the Simons Simplex Collection for help. Sequencing just the exome–the protein-coding part of the genome–made that part of the task easier. “Jay Shendure, who’s the co-senior author, his lab developed one of the approaches to doing exome sequencing, basically about a year before I got here,” said O’Roak. But the researchers still needed a way to better sift mutations that might be causative for autism from mutations that aren’t. The hunch was that sporadic cases of autism could be the key, and, thanks to the Simons Simplex Collection, that key was now available:

For about three years now they have been collecting [genetic samples from] families throughout the U.S. They have twelve different sites. Their whole mission has been to develop this public repository where any researcher can apply and get samples; but what they’re doing that’s different is getting these simplex families (or single affected families, or sporadic families, as we call them in the paper).

O’Roak’s study took “20 trios–so that’s father, mother, child–where the affected individual looked like the only person affected in their family. We only really expected, based on what we knew about mutation rates, about one new mutation per individual. So we could quickly get down to only a handful of variants to sift through, as opposed to the hundreds of variants you might find in any family.”

The de novo mutations they uncovered begin to give a better picture of what’s involved in autism. Mutation at GRIN2B suggested impairment of glutamatergic neurotransmission (glutamate is extremely important for learning); a mutation at SCN1A brought in a gene previously associated with epilepsy; disturbance to LAMC3 would affect limbic and cortical development; mutations at FOXP1 often results in language difficulties.

Looking at the data, O’Roak was struck by the rareness of the mutation sites (of the 21 mutations found, eleven were protein-altering, and four of the mutations, at FOXP1, GRIN2B, SCN1A and LAMC3 were found in severely affected individuals).

It meant they could be on to something–that they had found a way to work backwards from autism’s expression to specific genetic points of interest. If the next, larger study bears this first look out, it’s a step toward a future in which gene therapy could target these sites. But even earlier, this kind of information could impact intervention techniques, as we learn precisely what areas have been affected, and in what way.