What is the diagnosis for a 25-year-old nonverbal female with severe Intellectual Developmental Disorder (IDD), Attention Deficit Hyperactivity Disorder (ADHD), Autism, Major Depressive Disorder (MDD), and Generalized Anxiety Disorder (GAD) on Tegetol (Carbamazepine) ER 800 mg, Clonazepam 1 mg, Hydroxyzine 50 mg, Cetirizine 10 mg, Adderall (Dextroamphetamine and Amphetamine) XR 60 mg, Trazodone 450 mg, and Mirtazapine 15 mg, who intermittently strikes an odd pose with mouth open and arms in a bizarre posture, holding it for 15 seconds to 1 minute before relaxing and moving normally?

Diagnosis of Bizarre Posturing in a 25-Year-Old Female with Complex Neuropsychiatric Conditions

The patient's intermittent episodes of bizarre posturing with mouth wide open and arms in unusual positions, lasting 15 seconds to 1 minute before returning to normal movement, are most consistent with catatonia, which can occur in individuals with complex neuropsychiatric conditions including autism, intellectual disability, and mood disorders.

Clinical Features Supporting Catatonia

• The patient exhibits classic features of catatonia:

  • Abnormal posturing (holding mouth wide open and arms in bizarre positions)
  • Time-limited episodes (15 seconds to 1 minute)
  • Return to normal movement between episodes
  • No apparent loss of consciousness during episodes

• These presentations differ from tardive dyskinesia (TD), as noted in the question, which typically presents with:

  • Involuntary, repetitive movements
  • Continuous rather than episodic symptoms
  • Often affecting the face, tongue, and jaw in a rhythmic pattern

Medication-Related Considerations

The patient is on multiple medications that could contribute to or exacerbate catatonic symptoms:

1. Carbamazepine (Tegretol): Can induce drug interactions with other medications 1
2. Clonazepam: While benzodiazepines typically treat catatonia, chronic use could potentially mask or modify symptoms
3. Adderall (high dose): Stimulant medications at high doses can exacerbate neuropsychiatric symptoms 2
4. Multiple sedating medications: The combination of clonazepam, hydroxyzine, trazodone, and mirtazapine may affect neurological functioning

Differential Diagnosis

1. Catatonia: Most likely diagnosis based on the episodic posturing with preserved consciousness between episodes

2. Paroxysmal kinesigenic dyskinesia (PKD): Less likely as:

   • PKD attacks are typically triggered by sudden movements 3
   • PKD episodes usually last less than 1 minute, which fits the timeframe 3
   • However, PKD typically presents with dystonia, chorea or ballism rather than static posturing

3. Seizure activity: Less likely as:

   • Patient maintains consciousness
   • Episodes have stereotyped presentation
   • No post-ictal state described

4. Medication-induced dystonic reaction: Possible but less likely as:

   • Dystonic reactions typically involve sustained muscle contractions
   • The patient's return to normal movement between episodes is atypical for medication-induced dystonia

5. Tics: Less likely as:

   • Tics are typically briefer than the described episodes 3
   • The posturing described is more complex than typical tics

Catatonia in the Context of Developmental and Psychiatric Disorders

Catatonia is often underdiagnosed in neurological settings 4, particularly in patients with:

• Intellectual developmental disorders (IDD)
• Autism spectrum disorder (ASD)
• Multiple psychiatric diagnoses

The patient's complex presentation with severe IDD, autism, ADHD, major depressive disorder, and generalized anxiety disorder creates a clinical picture where catatonia can be easily overlooked or misattributed to other conditions.

Management Considerations

1. Diagnostic confirmation:

   • Bush-Francis Catatonia Rating Scale to formally assess symptoms
   • Lorazepam challenge test (1-2mg) to observe for symptom improvement

2. Medication review:

   • Evaluate for potential drug interactions between multiple CNS-active medications
   • Consider whether high-dose Adderall (60mg XR + 10mg immediate release) may be contributing to symptoms

3. Treatment options:

   • Benzodiazepines (the patient is already on clonazepam, but dose adjustment may be needed)
   • If benzodiazepines are ineffective, electroconvulsive therapy (ECT) may be considered in severe cases

Important Caveats

• Catatonia in patients with developmental disorders may present atypically compared to classic descriptions
• The high medication burden in this patient may be masking or modifying the presentation
• Communication barriers due to the patient being nonverbal make assessment more challenging
• Careful observation and documentation of episodes is essential for accurate diagnosis and treatment monitoring

The patient's presentation represents a complex interplay between her underlying neuropsychiatric conditions and medication effects, with catatonia being the most likely explanation for the described posturing episodes.