What is the recommended management for catatonia in a 14‑year‑old male with 22q11.2 deletion syndrome and mild‑to‑moderate intellectual disability who developed catatonia after brief aripiprazole (Abilify) exposure and is now being treated with lorazepam (Ativan)?

Management of Catatonia in a 14-Year-Old with 22q11.2 Deletion Syndrome

Immediate Recommendation

Continue and optimize lorazepam therapy as the first-line treatment for this patient's catatonia, with current dosing at 3 mg being appropriate but potentially requiring further titration up to 6-8 mg daily in divided doses if symptoms persist. 1 The discontinuation of aripiprazole was the correct decision, as antipsychotics can precipitate or worsen catatonia in vulnerable populations. 1

Critical Context for 22q11.2 Deletion Syndrome

This patient's presentation requires heightened vigilance for several syndrome-specific complications:

• Rule out hypocalcemia immediately – This is a medical emergency in 22q11.2DS that can present with neuropsychiatric symptoms including rigidity, irritability, and seizures. 2 Check pH-corrected ionized calcium, magnesium, parathyroid hormone, phosphorus, and creatinine stat. 3, 4

• Hypocalcemia-induced seizures can mimic or coexist with catatonia and require IV calcium gluconate 50-100 mg/kg over 10 minutes with continuous ECG monitoring, not escalation of psychiatric medications. 3, 4

• Obtain 12-lead ECG to assess for prolonged QT interval, which occurs with hypocalcemia and increases risk of cardiac arrhythmias. 5, 3

Lorazepam Treatment Protocol

Dosing strategy:

• Current dose of 3 mg daily is a reasonable starting point but likely subtherapeutic for catatonia. 1
• Titrate lorazepam up to 6-8 mg daily in divided doses (typically 2-3 mg three times daily). 1, 6
• Response may take days to weeks, particularly in cases with intellectual disability. 6
• Some patients with chronic or severe catatonia require higher doses and longer treatment courses (up to 5 months in documented cases). 6

Monitoring:

• Assess catatonia symptoms daily using standardized rating scales (Bush-Francis Catatonia Rating Scale if available). 1
• Monitor for sedation, respiratory depression, and paradoxical agitation.
• Continue lorazepam even if initial response is slow – patients who don't respond immediately may still recover with longer treatment duration. 6

Management of Psychotic Symptoms (If Present After Catatonia Resolves)

If true psychotic symptoms emerge after catatonia is controlled:

• Aripiprazole can be reintroduced cautiously at very low doses (2-5 mg daily) once catatonia has fully resolved. 7
• The 22q11.2DS population has approximately 10% risk of psychotic disorder by late adolescence, but this patient reported no delusions or hallucinations. 2
• "Laughing to himself" and disengagement are more consistent with catatonia than primary psychosis in this context. 1
• Start low, go slow with any antipsychotic given increased sensitivity in 22q11.2DS. 2

Alternative Treatments if Lorazepam Fails

If inadequate response after 2-3 weeks of optimized lorazepam:

• Consider electroconvulsive therapy (ECT) – highly effective for catatonia but requires careful coordination given this patient's age and intellectual disability. 1
• NMDA antagonists (amantadine 100-200 mg twice daily or memantine 5-10 mg daily) can be added as adjunctive therapy. 1
• Second-generation antipsychotics with dopamine-modulating properties (clozapine or low-dose aripiprazole) may be effective but only after benzodiazepine trial. 1

Critical Pitfalls to Avoid

Do not restart or escalate antipsychotics while catatonia is active – this can worsen symptoms and precipitate neuroleptic malignant syndrome, to which 22q11.2DS patients may be more vulnerable. 1

Do not assume this is purely psychiatric – the multisystem nature of 22q11.2DS means that metabolic derangements (hypocalcemia, hypomagnesemia, hypothyroidism) must be excluded as they can present identically. 2

Do not discontinue lorazepam prematurely – even chronic catatonia of years' duration has responded to prolonged lorazepam therapy in patients with intellectual disability. 6

Ongoing Monitoring Requirements

• Daily calcium and vitamin D supplementation are recommended for all patients with 22q11.2DS regardless of current calcium levels. 2, 3
• Monitor thyroid function (TSH) as hypothyroidism affects >25% of adults with 22q11.2DS and can contribute to psychiatric symptoms. 2
• Assess for seizure activity, as provoked seizures occur in up to 15% of 22q11.2DS patients and can be triggered by hypocalcemia, medications, or fever. 2
• Screen for sleep disorders with polysomnography if not already done, as sleep disturbances are common and exacerbate neuropsychiatric symptoms. 2

Long-Term Considerations

This patient requires comprehensive neuropsychological assessment to clarify baseline cognitive functioning, distinguish catatonia from underlying developmental issues, and guide educational planning. 2

Stress reduction and avoidance of substances (especially marijuana) is recommended to lower risk of mood and psychotic illness in 22q11.2DS. 2

Transition planning should begin now given this patient's age, intellectual disability, and complex medical needs – including identification of adult providers experienced with 22q11.2DS and consideration of guardianship before age 18. 2