One of the most powerful diagnostic tools is patient’s own story of illness (history of present illness, HPI). To obtain accurate and good HPI, a physician must use open- ended questions, e.g., “What brings you in here today?” “What is bothering you today?,” and “Tell me more.”
Do not ask many close-ended questions, such as “Do you have headache?” “Are you here for chest pain?” With close-ended question (always of interviewer’s choice), we are bound to fall into self-created cognitive traps, such as confirmation bias, availability heuristics, fast-default-mode thinking, patient-history distortions, and so on. (To learn about common cognitive traps in clinical thought process, I would recommend reading the book “How Doctors Think” by Jerome Groopman.)671
23.1 Autism Spectrum Disorders (Autism, Asperger syndrome, and Childhood Disintegrative Disorder)
Background: A group of neurodevelopmental disorders, possibly of genetic etiology, seen more commonly in patients with other genetic conditions, such as fragile-X syndrome. The incidence is significantly higher in boys than in girls.
Problems with social communication and interaction, e.g., problems with nonverbal social cues, avoidance of socializing, not making eye contact, or hugging.
Focused interest and repetitive pattern of activities and behavior: e.g., fixated on a toy, piano-playing, or words (repetitive use of words, phrases, grunts, or mumbles), or fixation on routines (repeats same behavior in a preset pattern).
Unlike Asperger and autism, these patients develop normally up until at least 2 years of age, but later start developing autistic symptoms with loss of previously acquired skills.a | |
aMajor differential diagnosis is Rett syndrome, which can have early normal-appearing development followed by loss of developmental milestones and social capabilities. Rett syndrome is due to genetic mutation and occurs only in females. There is also a dramatic decrease in head size and development of profound mental retardation. |
Management: If physician suspects or parents raise concerns during routine visit, NSIM is to schedule a follow-up visit for thorough evaluation using checklist tool for screening of autism spectrum disorders. Early intervention with remedial education and behavioral therapy is recommended. In some cases, selective serotonin reuptake inhibitor (SSRIs) or stimulants are necessary, but these are not first-line therapies.
23.2 Attention Deficit Disorder aka Attention Deficit Hyperactivity Disorder (ADD/ADHD)
Background: Genetic catecholamine balance has been implicated in pathogenesis. It is more common in boys.
Clinical features: It is characterized by a lack of attention and/or hyperactivity. Symptoms of hyperactivity might not be present if predominantly inattentive type, or vice versa.
Treatment options include the following:
Stimulants: Methylphenidate, Atomoxetine, Dextroamphetamine, etc.
Behavioral interventions which are designed to change behavior (positive reinforcement, time-out, etc.)
Psychotherapy may be useful for adolescents but is not helpful in children. Examples include analyzing thought patterns and cognitive behavioral therapy (CBT).
23.3 Tourette Syndrome
Background: Disorder of frequent sudden unexpected involuntary movements or vocalizations, which are referred to as tics. Tics can manifest as either motor or vocal, and patients must have both. Onset should be before the age of 21.
Motor tics usually involve the face, head, and neck.
Vocal tics can be sudden screaming, coughing, or coprolalia (shouting profanities).
Common coexisting problems include ADHD, obsessive compulsive disorder (OCD), etc.
Palilalia (immediate repetition of one’s own verbalizations) is common in Tourette syndrome.
Treatment: Drug of choice for bothersome tics is tetrabenazine,
1Tetrabenazine works by inhibiting reuptake of monoamines, thereby depleting neurotransmitters, such as dopamine, serotonin, norepinephrine.
For treatment of both Tourette’s and ADHD, alpha agonists (guanfacine, clonidine) can also be used.
23.4 Mood Disorders
23.4.1 Major Depressive Episode
Diagnostic criteria: Presence of at least 5 of the following symptoms for at least 2 weeks, along with functional impairment. Depressed mood or Interest/pleasure loss should be present as one of the symptoms.
P a | |||
Decrease in ability to concentrate or decrease in cognitive capabilities (pseudodementia) | |||
aPsychosis might be present, if depression is very severe. Mood-congruent hallucinations and delusions can develop. For example, patient can hear a voice saying, “you’re worthless and you are better off dead.” |
Review medications that can lead to depression (e.g., propranolol) and inquire regarding history of manic or hypomanic episodes. (!)
2Expression of thoughts or intent of suicide
Patient immediately loses the right of autonomy and confidentiality (harm to self).
NSIM: hospitalization (even if patient or parents refuse it).
Psychotherapy (includes cognitive behavioral therapy OR interpersonal therapy)
23.4.2 Antidepressants
(!) In patients with major depression, we should always ask about prior history of manic or hypomanic episodes, so we do not miss the diagnosis of bipolar disorder. Initiation of lone SSRI, in this case, may precipitate manic or hypomanic episode.
Follow-up after initiating pharmacological treatment:
Antidepressants may take at least 4 weeks to work.
3If patient comes in after 1 week reporting that there is no change in his symptoms, NSIM is to reassess after few more weeks.
First episode of major depressive disorder: continue medication for 4-9 months.
Second episode or very severe episode: continue for 1-3 years or indefinitely.
Primary indication is very severe depression with immediate threat (e.g., refusal to eat or drink, immediate risk of suicide, severe psychosis).
Severe persistent refractory depressive episode with failure of medical therapy.
Severe depression with psychosis in pregnancy (benefits of ECT in this case outweigh the risk to fetus).
Contraindications: Recent heart attack or stroke, high-risk cardiovascular disease, unstable brain aneurysm, and intracranial space-occupying lesion.
Common side effects: Amnesia (retrograde and anterograde), muscle aches, etc.
23.4.3 Grief versus Depression after Death of a Close Family Member
Can occur but are specific to the event and the person who died (e.g., hearing the loved one talking) | Nonspecific (e.g., hearing a voice saying that you are worthless) | |
23.4.4 Bipolar Disorder
Background: Bipolar disorders are characterized by coexistence of depressive and manic moods, which are not attributed to substance abuse or medical condition.
Diagnosis of manic episode: Requires persistent mood disturbance (elevated, expansive, or irritable) and increased energy or activity for at least 1 week resulting in functional impairment +
presence of at least 3 of the following:
Distractibility (attention too easily drawn to unimportant things) | |
Irresponsibility (increased buying, gambling, foolish investments, and sexual indiscretions) | |
Criteria: Hypomania + major depressive episode Definition of hypomania: Irritable or elevated mood and increased energy/activity but does not fulfill the diagnostic criteria of mania. | ||
Treatment of bipolar disorder:
Pharmacology: Acts on multiple levels by decreasing dopamine/NMDA (N-methyl-D- aspartate) transmission and increasing GABAergic transmission.
Contraindications: Creatinine elevation and dehydration.
Dose-dependent toxicity: Diarrhea, tremors, confusion, and/or ataxia.
4If patient has these symptoms, NSIDx is to check lithium levels and serum electrolytes (creatinine). After that, decrease the dose even if lithium levels are within normal limits, as these are dose-dependent side effects.
Potential renal complications are nephrogenic diabetes insipidus, chronic kidney disease (due to chronic instertitial nephritis), distal (type I) renal tubular acidosis, etc.
Thyroid dysfunction (commonly hypo- but hyperthyroidism can also occur).
Major differential diagnosis is drug abuse (especially adrenergic drugs, e.g., cocaine): during drug usage patients can have features like mania/hypomania, and while not using drugs patients can have rebound depression.
Monitoring lithium treatment: Routine lithium levels, thyroid function tests, and BMP (basic metabolic panel).
23.4.5 Pregnancy and Bipolar Disorder
23.5 Schizophrenia and Other Psychotic Disorders
23.5.1 Psychosis
Definition of psychosis: Presence of delusions + hallucinations + disorganized thoughts or behavior.
Delusions = Fixed, false beliefs that have no logical base (e.g., believing that your neighbor is out there scheming to kill you.)
Hallucinations = Hearing voices, seeing or smelling things that are not there.
Other examples of disorganized thoughts:
No response to external stimuli in a seemingly awake person; the person can be in a weird fixed position for a long period of time and have waxy flexibility | ||
Symptoms of psychosis can be divided into the following two categories
23.5.2 Psychosis in Various Conditions
Brief psychotic disordera | ||
Schizophreniform disorder b | ||
Schizophrenia b | ||
Psychosis for 2 or more weeks + major mood disorder | For example, history of severe depression and psychosis. Later depressive symptoms improve, but patient still has psychosis (“hearing voices saying that the government is spying on you”). | |
Mood-congruent psychosis synchronous with depressive or manic phase (i.e., psychosis symptoms are only observed during major depressive or manic episode). | Major depressive disorder or manic disorder with psychotic features e.g., major depressive episode along with auditory hallucinations saying, “you are completely worthless.” After major depressive episode resolves patient no longer has the hallucinations. | |
aDifferential diagnosis of brief psychotic disorder is acute confusional states due to medical condition. These patients can have acute hallucinations, delusions, and/or agitation:
| ||
bDifferential diagnosis is delusional disorder (delusions alone for ≥1 month with no hallucinations. Patients are normal functioning and have no disorganized thoughts/behavior, so it does not complete the criteria for psychosis). 5At times, delusions can be shared by a group of individuals and is known as shared delusional disorder. ![]() Stay updated, free articles. Join our Telegram channel![]() Full access? Get Clinical Tree![]() ![]() ![]() |