As psychiatrists we focus most of our efforts on treating people’s illnesses, but it is occasionally helpful to consider the context in which their illnesses occur. Two articles in this issue of the Journal raise the issue of context in different ways. The first article is about reading skills in the general population (1), and the second is about the reactions of people who are the victims of trauma (2).
Learning disabilities were the first brain dysfunctions to be destigmatized. For the past 50 years, there has been steady progress in the educational assessment and treatment of children who have difficulty with learning. Dyslexia is among the syndromes that have received this attention. As a result, there has been a massive dedication of community resources directed toward learning disabilities, the label of stupidity for children has been banished, and emphasis has been placed on “no child left behind.” The treatment of learning disabilities is a model for what we might hope to accomplish for children with psychiatric disorders.
Dyslexia has also been a model for the genetic study of a complex trait. Long before endophenotypes were considered for parsing the genetic inheritance of psychiatric disorders, subtypes of reading disability were established that mapped to distinct genetic loci (3). Failure to learn to read on first glance appears to be as multidetermined as childhood depression. It is often accompanied by frustration, behavioral problems, and strained family dynamics that seem to contribute to the child’s problem. Yet, if the phenotype is properly specified, it has a strong genetic basis. Reading comprehension and spelling have a different genetic basis than phonetics. The gene examined in the study published in this issue does not yet even have a name. It is labeled KIAA0319. Like the genes associated with psychiatric illness, it is a gene whose primary function occurs during fetal brain development, when it is required for the migration of cells into the neocortex. How a specific developmental neurobiological defect conveys a specific neurocognitive deficit is as much a mystery for dyslexia as it is for psychiatric illness.
Paracchini et al. (1) examined the effect of variants in KIAA0319 on reading in a large sample of 7- to 9-year-olds. They found that the effects of variants previously associated with reading difficulties were not detectable in the 6% of the sample that fit criteria for reading difficulties. Rather, the effects were seen across the 25% of the sample with the lowest ability in reading and spelling, not just those identified with reading difficulties. In other words, the effect of the gene is best seen not in the context of the small minority of children with a disability, but rather as part of the genetic variation in brain development that conveys differences in reading ability more generally. There have been similar efforts to look at variants of the genes associated with psychiatric illness, such as the dopamine DRD2 receptor gene, and personality traits (4).
The original models for genetic study of schizophrenia postulated that it is an uncommon, very serious illness that must occur because of a rare genetic variant that severely disrupts brain function and whose inheritance almost always causes schizophrenia. Subsequent studies have shown that most of the genetic variants associated with schizophrenia are found in as much as 10% or more of the general population, and thus they do not cause schizophrenia in the majority of the people who have them. If there are several such common genetic variants involved in schizophrenia and still more in mood disorder, autism, and dementia, then one can quickly calculate that few, if any of us, are free from some genetic predisposition for psychiatric illness. The Paracchini et al. article reminds us that this situation is true for other genetic brain disorders as well. Its findings challenge us to think of serious mental illness as arising from the spectrum of genetic variation in brain development that all of us have. We can then consider nongenetic developmental factors that cause a genetic variant that usually results in minimal disruption to be transformed into a very serious illness. We could also consider the outcome from a coping perspective—how do most individuals learn to read well enough despite their genetic difficulty, while others cannot? Investigation into coping skills adopted by individuals genetically at risk for psychiatric illness might be similarly informative for our practice.
Alim et al. (2) also considered the characteristics of individuals who have different outcomes despite similar exposure to risk for illness. They examined the psychological differences between individuals who, in the face of similarly traumatic lives, have different outcomes. The women were patients in an inner city primary care clinic who reported exposure to trauma. Three groups were identified: resilient women with no psychiatric illness, women who had recovered from an illness, and women who had chronic illness. Alim et al. found both negative and positive factors that seemed to account for the development of chronic illness in these traumatized women. First, the number of traumatic events, in particular the experience of physical assault, was a critical determinant of illness and its chronicity. Second and independently, a sense of purpose in life was associated with both resilience and recovery. Self-ratings of mastery were also associated with recovery.
Just as Paracchini et al. do not know how individuals with the same genotype have different impairment in reading abilities, Alim et al. do not know how some women overcome trauma with a sense of purpose and mastery, while others do not. Sadly, physical assault seems to crush the ability of women to achieve purpose and mastery. However, the African American women in the Alim et al. study who showed resilience seemed to benefit from increased attendance at religious services, which has traditionally been a strong social support for many groups. Optimism and emotional expression also supported resilience. Many of these coping factors were positively correlated and may be an expression of a single underlying character strength.
Genetic risk for dyslexia and traumatic experiences—seemingly disparate, but both common in the general population—are examples of the perils that human beings confront from conception through adulthood. Yet, the majority of people exposed to these perils do not develop long-standing illness. Learning how some of us cope and sometimes even triumph is as much our concern as psychiatrists as investigating how some of us have not.