Behavioral Pediatric Neurology
M. Zelime Elibol
Jeff Waugh
Jeremiah M. Scharf
Ann M. Neumeyer
PSYCHIATRIC MANIFESTATIONS OF NEUROLOGIC DISEASE
Psychiatric symptoms may be the first/early symptom of neurologic disease, can assist in localization and diagnosis. Disorders with diverse presentations (i.e., psychosis and mood disorder) are listed by most common manifestations. Virtually all neurodegenerative disorders may have cognitive/executive/mood disorders at some time during disease course, but typically not at presentation except as follows.
Presenting with Psychosis or Executive Dysfunction
Progressing Over Hours to Weeks
Acute Confusional Migraine
Disorientation ±agitation, children > adolescents.
Sydenham Chorea
Inattention, behavioral outbursts, obsessive-compulsive features.
CNS Vasculitis
Often small vessel, not visualized on conventional angiogram or MRA, often with headache, fever, and focal neurologic signs.
Porphyria
Hallucinations, paranoia, confusion coincide with systemic symptoms.
Epilepsy
Especially originating from temporal, orbitofrontal, and cingulate cortices, often (but not always) associated with preceding visceral or olfactory aura, sudden onset/termination. Infection: Diverse in timing and anatomical tropism, almost always with systemic symptoms.
Antibody-Mediated Encephalopathies
NMDA Receptor Encephalitis
Speech regression or loss, bizarre behavior, incontinence, dyskinesias, and seizures.
Anti-GAD Encephalitis
Classic limbic encephalitis, with disorientation, mood disturbance, and seizures.
Ophelia Syndrome
Rapid-onset, dense amnesia, associated with Hodgkin lymphoma.
Opsoclonus-Myoclonus-Ataxia Syndrome
Inattention, impulsivity, mood disturbance coincide with onset of movement disorders.
Hashimoto Encephalopathy
Unclear relationship between CNS symptoms and antithyroid antibodies, often steroid-responsive (diagnostic).
Metabolic Disorders
Mitochondrial and substrate dysmetabolism disorders with triggered exacerbations often have acute cognitive/executive decline on backdrop of slowly progressive dementia.
Progressing Over Months to Years
Huntington disease: Attention deficits, belligerence, substance addiction, parkinsonism/gait disturbance > chorea before age 20 y, all HD-mimics have same psychiatric profile. Chorea-acanthocytosis: Disinhibition, executive function deficits. Wilson disease: Frank psychosis, inattention, disinhibition, insomnia.
Presenting with Personality Change Early in Course
Rapid Evolution
Typically with focal deficits and/or systemic signs.
Infection, Ischemia
Both stepwise, progressive changes possible. Embolic, hemorrhagic, moyamoya-related infarcts may all present with change in attention/cognition/executive function. CNS vasculitis (including lupus): Diffuse, waxing and waning deficits. May also be slowly progressive.
Slowly Progressive
Storage Disorders
Juvenile neuronal ceroid lipofuscinosis (Batten disease); Gaucher disease type 3 (general cognitive decline, no psychosis); Niemann-Pick type C (psychosis, hallucinations, progressive dementia—always with other diffuse neurological symptoms).
Leukodystrophies (esp. X-ALD, MLD)
Behavioral changes, attention deficits, and school failure dominate early presentation; rare cases may present acutely; later-onset vanishing white matter disease often has behavioral or psychiatric disturbance present at onset, with motor features coincident or following rapidly.
Presenting with Mood Disorders
Sydenham chorea: Depression, anxiety, and obsessive-compulsive symptoms common, develop early, and may persist for many months. SCA17
(likely other degenerative ataxias too): Depression may precede ataxia; Early-onset parkinsonism (PARK7). Epilepsy: More commonly comorbid than as a presenting symptom. NBIA disorders (neurodegeneration with brain iron accumulation): Mood disorders and personality change common in late adolescent-onset.
(likely other degenerative ataxias too): Depression may precede ataxia; Early-onset parkinsonism (PARK7). Epilepsy: More commonly comorbid than as a presenting symptom. NBIA disorders (neurodegeneration with brain iron accumulation): Mood disorders and personality change common in late adolescent-onset.
NEUROLOGIC PRESENTATIONS OF PSYCHIATRIC DISEASES
Psychiatric disorders commonly present in neurologic practice, both as complications of neurologic diseases and as mimics of distinct neuropathology. 15% to 30% of all neurology outpatient visits remain medically unexplained.7,8 Failing to recognize/aid this large patient group is simply not an option. Fortunately, such disorders are often readily distinguished from neurologic diseases and many are responsive to treatment.
Depression
Common features of depression may be mistaken for neurological disease; psychomotor slowing or retardation, parkinsonism, abulia, insomnia and poor attention, ADHD, memory disturbance, insomnia, delusions and hallucinations, fragments of many neurological diagnoses.
Catatonia
A clinically defined disorder of motor immobility, often with waxy tone alternating with excessive, repetitive, and purposeless actions; social withdrawal, mutism, refusal of interaction or nutrition/hydration; fever and autonomic dysregulation. May be misdiagnosed as status epilepticus (convulsive or nonconvulsive), dystonic storm, encephalitis, malingering.
Etiology
Unknown. Linked with schizophrenia and autism, but occurs in many disorders: lesions of medial prefrontal cortex, anterior nuc. thalamus; antiphospholipid antibody syndrome; Lupus cerebritis; Trisomy 21; Anti-NMDA receptor encephalitis; Prader-Willi syndrome; global developmental delay; temporal lobe epilepsy; depression, anxiety, or mania; cocaine, ecstasy abuse; hyponatremia; Wilson disease.
Demographics
F = M, adult = child, 5% in psychiatric outpatients, ˜15% among autism spectrum disorders, higher in children receiving acute psychiatric care.9 Catatonia in children does not differ substantially from catatonia in adults: signs, symptoms, treatments, many causes are identical.
Treatment
High-dose benzodiazepines and electroconvulsive therapy lead to improvement in 80% to 100% of patients.10 Treatment is independent of causative disorder. Poorly diagnosed in children; only 11% are diagnosed early in course and only 6% receive therapeutic standard of care. Delayed treatment limits efficacy of therapy. Most severe form (malignant catatonia) is fatal in 10% to 20%, but responds if recognized early.
Somatoform Disorders
Symptoms that suggest a medical diagnosis but are caused by psychiatric disturbance, usually referred to neurology. Linked to heightened sensitivity to normal body fluctuations, increased basal autonomic arousal.
Definitions
Somatization: Pattern of multiple chronic complaints, shifting frequently, lasting years. Conversion: (25% of somatoform disorders in adults, ˜50% in children), acute onset of discrete neurological symptoms, persists months/years with limited change in symptom. Pain disorder: Distress out of proportion to or without preceding injury, headache, abdominal, pelvic sites common, but any area can be affected. Hypochondriasis: Fear and preoccupation with specific disease.
Demographics
Symptoms poorly explained by a medical diagnosis are very common—1/3 of all neurology outpatient visits.7 Linked to anxious/depressive personality types, mood disorder, (+) family history of mood, or somatoform diagnoses is common.
Conversion Disorder
Somatoform diagnosis most likely to involve neurology, and most common in children.
Demographics
Psychogenic disorders are common in children, ≈ to adult frequency: 2 to 5/100,000 children/y, as common as all-cause encephalitis; 6% to 15% of neurology outpatient visits; 5% of new-onset seizures; 3% of movement disorders clinic visits, and 25% of inpatient movement disorders consultations.11,12 Gender: F = M, prepuberty, in adolescents/adults conversion disorder females 2 to 10× > males. ˜25% cases are <10 y, but in reported cases/personal experience may be as young as 4 y.
Etiology
Though historically linked to psychological distress (hysteria), now demonstrated to have abnormal brain activity correlating with location and type of symptoms.13 Sense of agency (ownership of thought/action) is abnormal,14,15 pattern of fMRI/PET activity with movement is abnormal. These “functional” derangements normalize with treatment. Thus the symptoms are not consciously generated and are not under patient control.
Diagnosis
Trust your exam; if you are uncertain, refer. Functional disorders have patterns of presentation distinct from their organic counterparts. See Table 15.1.
“Diagnosis of exclusion” is inaccurate, undermines trust in one’s assessment, and forces unnecessary testing/anxiety/cost/delay in treatment. Sharing affirmative findings on exam with patients demonstrates your cautious evaluation, gives time for news to sink in (e.g., “This downgoing toe is reassuring; your weakness is not from a spinal cord injury.”) Misdiagnosis for conversion disorder is rare (5%), identical to rate for other neurological diagnoses.16 Style of presentation is critical—physician says: nonorganic, factitious, psychogenic, pseudo; patient hears: “all in your head,” “faking it,” or “not worthy of my time and energy.” This perception is based on: (1) the view in society that psychiatric disorders are less serious than “real” diseases; (2) that they are the patient’s fault; (3) the way providers frame and discuss the symptoms. Conversion symptoms are beyond the patient’s control, are as debilitating and distressing as organic symptoms— approaching patient with sympathy and respect is essential for successful treatment. Note: DSM-IV criteria require identification of psychological
cause—not required in DSM-5, not currently required to dx specific manifestations (e.g., psychogenic movement disorders, nonepileptic seizures).
cause—not required in DSM-5, not currently required to dx specific manifestations (e.g., psychogenic movement disorders, nonepileptic seizures).
TABLE 15.1 Essential Elements in the Assessment of Functional Disorders in Children | |||||||||||||||||||
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Treatment
In children, 80% to 90% make full recovery, far better response than in adults.11,17 Of those who recover completely, 96% do so within 4 wk. Factors that predict better outcome: shorter disease duration; stated trust in physician; belief in the diagnosis; patient and physician’s expectation of recovery. Therapy begins with careful exam, affirming the positive findings that led to the dx. Unpacking stressors is often therapeutic, may resolve, and often reduces symptoms. Early referral to and ongoing care by psychologist/psychiatrist experienced with functional disorders. Minimize testing and demedicalize where possible. CBT shown to be effective in clinical trials. Very helpful to maintain relationship with neurologist—provides affirmation in diagnosis, ready evaluation if new sx develop, “backup” if psych relationship is difficult. Cost and duration of care are similar to that for patients with similar organic diagnoses.18 Caveat: 10% to 15% of patients with psychogenic disorders have coexisting organic disorder—must address both.
TIC DISORDERS
Definition
Tics are rapid, arrhythmic, repetitive movements or sounds that wax and wane over weeks/months to involve other body parts, actions.
Simple Tic
Brief, single body area involved, though multiple simple tics often coexist.
Complex Tic
More purposeful appearing movements/sounds, often in rigid coordinated patterns of action, may be compulsive (touching/tapping), aggressive (hitting/punching self), involve mimicry of self (palilalia) or the words (echolalia) or actions (echopraxia) of others, use of socially inappropriate words/phrases (coprolalia) or gestures (copropraxia).
Presentation
1st tics onset commonly between 3 and 8 y, usually motor (head, neck, shoulders most common), followed 1 to 2 y later by vocalizations. Symptoms typically peak in early adolescence, then taper off and remit/recede in ˜80% of patients. Triggers: Stress, fatigue, excitement, infections, beginning/end of school year, holidays, others noticing tics. Premonitory urge: (building sense of pressure/itch/“wrongness”) that can be briefly resisted, non-distractable, relieved by performing tic is near-universal. Urge and ability to suppress may not be evident in young or developmentally delayed patients. Single tics emerge, flourish over weeks to months, and eventually migrate to other body parts/actions. In this constant pattern of waxing/waning, several tics often overlap, with multiple tics seen within a day. Coprolalia/copropraxia occur in only 10% to 20% of TS patients, are rare in non-TS tic disorders. Unusual tic types: Tonic (abdominal or pelvic tensing, breathholding); dystonic (writhing, twisting, distorting movements); negative tic (vocal or movement block); forced laughter. Tics are an uncommon psychogenic movement disorder, though occasional patients with tics can have superimposed elaborative tics. Distinguish from stereotypies (stereotypy distractible, start <3 y, even in infancy) and myoclonus (myoclonus less complex, typically rapid “lightning-like” jerks, not suppressible)-for both, no evolution to other body parts, no internal drive/premonitory urge.
Transient Tic Disorder of Childhood
Regardless of number/severity; duration >1 mo and <1 y; best used in retrospect for brief tics that have abated; proposed DSM-5 change name to “Provisional Tic Disorder.”
Chronic Motor or Vocal Tic Disorder
Restricted to one class (either motor or vocal tics, not both), duration at least 1 y.
Tourette Syndrome (TS)
“Gilles de la Tourette” is the full last name of the 19th century French physician who described this disorder. Multiple motor & ≥ one vocal tic, duration >1 y; must exclude other causes (e.g., drugs, basal ganglia injury) & general medical conditions. Severe tics seen in 5%, often refractory to treatment (self-injurious, or violent behaviors such as punching, pinching, eye poking), termed malignant TS. TS and chronic tics exist on a clinical spectrum, are not clearly separate disorders, and segregate together in families. DSM-5 removed previous requirement for all tic disorders regarding no tic-free interval > 3 mo.
Demographics
Most common movement disorder in childhood: transient tic disorder, 20% to 30%; chronic motor or vocal tic disorder, 2% to 3%; TS, worldwide
prevalence ˜1%, male predominance (˜4:1). Of chronic tic disorders, by the age of 20 y: 1/3 resolve, 1/3 continue at low intensity, 1/3 are symptomatic. Comorbidities with TS are frequent (88%): ADHD, 60%; OCD, ˜30%; learning disability, ˜25%; mood disorders, 20%; conduct/oppositional defiant disorder, 15%.1 Family hx often (+) for tic, ADHD, and/or OCD (TS triad).
prevalence ˜1%, male predominance (˜4:1). Of chronic tic disorders, by the age of 20 y: 1/3 resolve, 1/3 continue at low intensity, 1/3 are symptomatic. Comorbidities with TS are frequent (88%): ADHD, 60%; OCD, ˜30%; learning disability, ˜25%; mood disorders, 20%; conduct/oppositional defiant disorder, 15%.1 Family hx often (+) for tic, ADHD, and/or OCD (TS triad).
Pathophysiology
Genetic mechanism undetermined, but strong heritability: in TS, 55% concordance between monozygotic twins, 8% in dizygotic. Tics are a developmental disorder: 2/3 “outgrow” or markedly lessen. Hypothesized mechanisms: reduced integrity of somatosensory cortex-basal ganglia connections leading to motor disinhibition; dopaminergic hyperinnervation of the striatum; impaired top-down cortical control from frontal lobe networks; numerous other neurotransmitter abnormalities of unclear significance.2
Treatment
Most patients have mild tics, need only education and reassurance. Disability is better predicted by comorbidities, individual/family factors than by tic classification.
Medications
Indicated only if tics cause self-injury/pain, social/academic/functional impairment.
1st Tier
α2 agonists (clonidine, guanfacine), multiday dosing is required (not just q.h.s.); less evidence for topiramate
2nd tier
Atypical antipsychotics (risperidone, ziprasidone, aripiprazole); quetiapine, olanzapine generally less effective
3rd tier
Typical antipsychotics (haloperidol, pimozide, fluphenazine); highest efficacy but many short- & long-term side effects; efficacy proportional to D2R potency; pimozide NOT necessarily better than haloperidol or fluphenazine and has many drug-drug interactions, ↑ QTc
Other
Tetrabenazine (depletes neuronal dopamine, as effective as 2nd + 3rd tier with less tardive dyskinesia risk; for some patients 1st tier, but limited by 25% emergent depression and cognitive blunting); botulinum toxin (consider for single-site bothersome tic).
Habit Reversal Training (HRT)
Teaches pts to recognize premonitory urges & perform voluntary behavior that is incompatible w/ tics. Randomized controlled trial showed modest improvement in tic severity.3
Deep Brain Stimulation (DBS)
For severely disabling, medication-refractory tics; optimal location of electrode placement (CM thalamus, GPi, subthalamic nucleus) still unclear.
Education
Education of family & schools is often sufficient treatment. May need counseling, support services, classroom accommodations.
Comorbid Disorders
Important to treatment, often more impairing than tics.
ADHD
Stimulants NOT contraindicated—no difference in tic exacerbation; methylphenidate vs. clonidine vs. placebo; combo clonidine/ methylphenidate best for combined ADHD/tics.4 Amphetamine derivatives, atomoxetine (NE reuptake inhibitor), guanfacine also proven effective. In practice, can see transient tic worsening after stimulant initiation but often abates with time, reduced likelihood with low-dose initiation and slow up-titration.2
PANDAS
Pediatric Autoimmune Neuropsychiatric Disorders associated with Group A Streptococcal infection is a controversial diagnosis. Preadolescents show abrupt onset of OCD symptoms ± severe tics, often with behavioral regression, enuresis, attention deficits. Unclear whether it’s a distinct disorder or a subset of TS or OCD sufferers, with an infectious trigger. Attempts to identify anti-neuronal antibodies (as seen in Sydenham chorea) have led to rare positive and numerous negative basic science studies. Difficult to link decisively with strep infections, given the high carrier rate and asymptomatic infections. Reported improvements following IVIG or plasmapheresis, but not steroids. IVIG not currently recommended outside of a clinical trial. Shortcourse antibiotics are generally accepted, while protracted/prophylactic antibiotics are likely of no benefit, though hotly debated. Recently proposed to also follow Mycoplasma or Borrelia infections; therefore renamed PANS (pediatric acute-onset neuropsychiatric syndrome).
ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD)
Definition and Diagnostic Criteria
Neurobiological/neurodevelopmental condition manifesting in early childhood, with core symptoms of hyperactivity, impulsivity, and/or inattention. Per AMA Council on Scientific Affairs, “One of the best-researched disorders in medicine, and the overall data on its validity are far more compelling than for many medical conditions.”19 Subtypes: Predominantly inattentive, predominantly hyperactive/impulsive, or combined type.
DSM-IV Criteria20
≥6 of 9 inattentive and/or ≥6 of 9 hyperactive/impulsive (H/I) symptoms. Symptoms must persist for ≥6 mo; be maladaptive & inconsistent w/ developmental level; present in ≥2 settings (school, home, etc); present before 7 yo (<12 yo in DSM-5 as below); cause significant impairment in social, academic, or occupational functions; not attributable to another physical, situational, or mental disorder. Note: Might not be recognized until after 7 yo, when school/work becomes more challenging (especially in inattentive subtype).21 See Table 15.2.
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DSM-5 Changes22
(1) Classification: ADHD moved to “Neurodevelopmental Disorders” group, clustered with learning disorders (LD), not “disruptive disorders” (oppositional defiant disorder [ODD] and conduct disorder [CD]) to reflect developmental brain correlates. (2) Age criteria: Symptoms were present by 12 yo (not 7 yo) but did not have to cause impairment by 12 yo. Multiple studies show no difference between child identified by 7 yo vs. later in regards to course, outcome, severity, or tx response. (3) Subtypes: Symptoms/pattern may change with age and context, classification may differ between informants, may have symptoms from both “subtypes”; similar response to meds across subtypes. Still need ≥6 to 9 symptoms over the past 6 mo from either/both inattentive or H/I list but no longer categorized as “subtypes,” but described as “presentations”: H/I presentation (with ≤5 inattentive symptoms), inattentive presentation (3-5 H/I symptoms), restricted inattentive presentation (≤2 H/I symptoms), combined presentation (≥6 inattentive and ≥6 H/I symptoms). Restricted inattention subtype needs further study. (4) Adult/adolescent diagnosis: Still require retrospective onset <12 yo, but DSM symptoms originally developed in children and symptoms/pattern may change with age and context; can see age-related “decline” in number of symptoms. Need ≥5 symptoms for adults (>17 yo) and there is description of symptoms more tailored to adults. (5) ADHD in autism spectrum disorders: ADHD can now be diagnosed in ASD patients; previously excluded by “cannot be attributed to another mental disorder” criterion.
Epidemiology
Prevalence and Gender
Most commonly diagnosed pediatric neurobehavioral disorder; affects 4% to 12% school-age children.23 Children appear to have male predominance; likely due to decreased rates of aggression/disruptiveness in girls, so not referred until later. Adults M:F ratio equal suggesting underdiagnosis in females in childhood. Percent of children ever diagnosed with ADHD increased from 7% in 1998-2000 to 9% in 2007-2009 (using parental report).24
Underdiagnosed and Undertreated
Subtypes
Combined subtype 50% to 75%, inattentive subtype 20% to 30%, hyperactive/impulsive <15%. Combined subtype most common, most severe, greatest risk of comorbidities.27
Pathophysiology23
Heterogenous disorder with multiple contributing factors: genetic, neuroanatomical, neurochemical, environmental.
Neurochemical
Catecholamine dysregulation; dopamine (DA) and norepinephrine (NE) in prefrontal cortex (PFC) & frontal-subcortical pathways. PFC impaired by too little or too much catecholamine—inverted U-shaped dose-response curve. PFC function impaired: Too little NE and DA (ADHD) or too much NE and DA (via stress or stimulant medication dose too high); excessive NE activates α-1 and β-1 adrenergic receptors and DA overstimulates D1 receptors → distracted, disorganized, forgetful, impulsive. PFC function improved: With treatment, moderate levels NE and DA activate postsynaptic α-2A receptors and D1 receptors respectively → focused, organized, responsible.28
Neuroimaging
Smaller anterior cingulate cortex (ACC) & dorsolateral prefrontal cortex (DLPFC); delay in development of cortical thickness (pattern of development between ADHD & controls similar, but delayed in ADHD); DLPFC, ACC, & parietal areas remain thinner in ADHD adults; increased disorganization of white matter tracts emanating from PFC; attenuated frontostriatal activity on go/no go test (needed for inhibitory control & attn); increased activation non-frontostriatal regions (ACC
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