2 LEARNING OBJECTIVES

The Approach to Diagnostic

Ambiguity

Recognize the role of symptoms, longitudinal course, family history,

epidemiological context, treatment response, and laboratory assessments
that can help to corroborate the validity of a psychiatric diagnosis
Recognize the nonoverlapping symptoms among psychiatric disorders that
share phenomenological features
Appreciate both the utility and limitations of pharmacological assays to
corroborate clinical diagnostic impressions
Formulate working diagnostic hypotheses that are subject to revision over
time as additional information becomes available through longitudinal
course and treatment outcome

A WHAT TO DO IF YOU DON’T KNOW WHAT YOU’RE

TREATING
Clarity about the intended targets of treatment is, by necessity, a prerequisite
for any psychiatric or other medical intervention. One cannot make sensible
treatment decisions unless one knows with some degree of confidence what
exactly constitutes the object of treatment. Yet, by and large, psychiatric
diagnoses are made on purely clinical grounds – meaning, they derive from
collections of signs and symptoms that cohere in an organized fashion, seldom
with definitive corroboration by an external biomarker. (Some exceptions to
this might include positive blood or urine toxicology screens to affirm the
diagnosis of alcohol or other substance intoxications; low cerebrospinal fluid
levels of orexin to diagnose narcolepsy; or neuroimaging or other laboratory
tests that affirm an underlying nonpsychiatric medical condition (such as a brain
malignancy, or metabolic derangement) that might explain an acute mental
status change.) Herein lies a dilemma: while evidence-based treatment means
identifying a plausible working diagnosis, categorical diagnoses cannot always
be made with the degree of exactitude one might otherwise hope for. In clinical
trials, consensus-based diagnostic teams often review all available information
from semi-structured interviews and past records to arrive at “low,” “medium,”
and “high” probability levels for a suspected diagnosis, recognizing that cases

26 the full-text of the Ebook, please contact us: [email protected]

if you need
also, we have many other ebooks and reports
https://doi.org/10.1017/9781009181549.004 Published online by Cambridge University Press
 A What to Do if You Don’t Know What You’re Treating

which stray too far from “high” diagnostic Tip

probability invite extrapolation and variability It is generally more
from the treatment effects seen in more clear- useful to acknowledge
cut presentations of a suspected disorder. diagnostic ambiguity
The idea of diagnostic “accuracy” may be a when the clinical
elements of a given
more relative than absolute construct, insofar
patient’s presentation
as the operational criteria for some psychiatric seem not to add up to
disorders may change over time, and are often a recognizable clinical
based more on committee consensus than profile, rather than to
empirical discovery; some diagnoses become “force fit” a diagnosis (or
“voted” into favor (e.g., disruptive mood consequent treatment)
when key features may
dysregulation disorder) or altogether out of
not be evident.
existence (e.g., Asperger syndrome) based on
prevailing sentiments among experts at any
given time. Fuzzy treatment targets can beget murky therapies, and the process
of differential decision-making across viable strategies (and their evidence base)
becomes a slippery slope. Yet, without coherent operational criteria for defining
a clinical entity, it may be next to impossible to apply any kind of objective
decision-making calculus to differential therapeutics.
Pattern recognition and the related notion of template matching, as
discussed in Chapter 7, Section B, offers one approach for clinicians to identify
a coherent clinical entity (say, major depression), and its possible subtypes (say,
melancholic versus atypical). The basic concept here means trying to identify a
constellation of recognizable signs and symptoms that fits within an expected
epidemiological framework (see Table 2.1 in Section D) and can help clinicians
formulate cogent diagnostic impressions and consequent therapeutic targets;
that process, in turn, should then align with evidence-based treatment options.
Certain clinical elements are expected to congeal for particular diagnostic
entities, and their presence or absence may strengthen or weaken the confidence
with which one establishes a working diagnosis, as well as a plan of viable
therapeutic options. For instance:
• One would expect a manic patient to manifest signs of high energy and
psychomotor acceleration (in speech, thought, and movement)
• One would expect someone with schizophrenia to demonstrate concrete and
impoverished thinking as well as poor affective relatedness
• Suspected autism usually involves preoccupations with restricted interests and
poor reciprocal social skills
• Personality disorders involve persistent (non-episodic) traits that can be
provoked at any given point in time in response to the right interpersonal
context or stressor; as lifelong phenomena, they are likely to become manifest
sooner than later

27
if you need the full-text of the Ebook, please contact us: [email protected]
also, we have many other ebooks and reports
https://doi.org/10.1017/9781009181549.004 Published online by Cambridge University Press
 2 The Approach to Diagnostic Ambiguity
2

Certain psychiatric symptoms can be highly nonspecific and, in themselves,

lead toward no particular diagnostic impression unless contextualized by
associated symptoms. Examples include inattention; mood instability; anhedonia;
poor impulse control; aggression; idiosyncratic thinking; and even psychosis.

B SYMPTOMATIC OVERLAP
Symptoms that overlap across multiple diagnoses are nonpathognomonic. In
fact, modern nosological systems such as the DSM-5 (American Psychiatric
Association, 2013) prohibit the “counting” of an identified symptom as being
a component of one disorder if it can be better accounted for by another. For
example, in the medically ill, it can be problematic to attribute vegetative
signs such as fatigue or loss of appetite to depression versus a chronic medical
condition. Socially avoidant behavior could occur for different reasons in
someone with schizophrenia or social anxiety disorder. Similarities and
differences between depression and negative symptoms in schizophrenia may
seem to involve nuanced distinctions but their phenomenological discrimination
can be identified (Krynicki et al., 2018). Several examples of conditions with
overlapping symptoms, for which the nonoverlapping features may be fruitfully
differentiated, are illustrated in Figures 2.1–2.4.

Figure 2.1 Overlapping versus nonoverlapping features in bipolar disorder and attention deficit–
hyperactivity disorder (ADHD)

Bipolar disorder ADHD

• Definable, discrete
episodes • Nondiscrete,
• Mood instability chronic symptoms
• Rare onset in • Inattention
childhood • Onset in childhood
• Executive
• Prominent • Depression not
dysfunction
depression prominent
• Impulsivity
• Psychosis during • No psychosis
mania • Sensation-
seeking • No suicidality
• Suicidality • No grandiosity
• Restlessness
• Grandiosity
• Substance use • No hypersexuality
• Hypersexuality comorbidity • If less sleep,
• Reduced need for consequent fatigue
sleep

28 the full-text of the Ebook, please contact us: [email protected]

if you need
also, we have many other ebooks and reports
https://doi.org/10.1017/9781009181549.004 Published online by Cambridge University Press
 B Symptomatic Overlap

Figure 2.2 Overlapping versus nonoverlapping features in bipolar disorder and borderline
personality disorder

Bipolar disorder Borderline personality

disorder
• Euphoria
• Decreased need • Mood instability
for sleep • Irritability • Feeling
• Impulsivity numb/empty
• Grandiosity
• Flight of • Paranoia • Fears of
ideas/racing • Agitation abandonment
thoughts • Risk-taking • Splitting and
• Chronobiological • Substance abuse projection
sensitivities • Interpersonal • Self-injury
• Increased goal- chaos • Micropsychosis
directed activity • History of abuse when stressed
• Bipolar family
history Suicidality

Acute Chronic

Constructs such as “mood instability” have been shown to have little

diagnostic value for discriminating bipolar disorder from other conditions
that may involve high emotional variability (Goldberg et al., 2012) – not just
borderline personality disorder as noted in Figure 2.2, but also substance use
disorders, posttraumatic stress disorder (PTSD), developmental disabilities, and
cognitive impairment disorders (e.g., dementia), among others. Some authors
have rather controversially proposed that common underlying mechanisms
might account for swift mood changes and problems with impulse control in
people with bipolar disorder or borderline personality disorder (and the use of
medications studied in bipolar disorder as plausible treatments for symptoms
of borderline personality disorder) (MacKinnon and Pies, 2006). We would
instead encourage more of a focus on their nonoverlapping features to better
guide their phenomenological discrimination – as illustrated in Figure 2.2.
Notably, emotional dysregulation in borderline personality disorder tends to be
triggered by interpersonal events whose impact lasts on the order of minutes to
hours, whereas mood changes in people with bipolar disorder less clearly arise
in response to such provocations, last more on the order of days to weeks or
months, and are by definition accompanied by changes in the sleep–wake cycle
and energy–activity levels. Abrupt rather than gradual changes in mood also are
evident in a little less than half of individuals with bipolar disorder (and may be a
phenomenon also evident in their first-degree relatives) (MacKinnon et al., 2003),

29
if you need the full-text of the Ebook, please contact us: [email protected]
also, we have many other ebooks and reports
https://doi.org/10.1017/9781009181549.004 Published online by Cambridge University Press