Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature

Table 1 Patient’s disease course, diagnosis, and treatment timeline

Age	Event/observation	Treatment/intervention	Outcome/remarks
2-3 years old	Delayed speech and walking development, lack of social engagement
8-13 years old	Learning difficulties, poor academic performance, requires family assistance for personal tasks	Sixth grade suspension due to learning difficulties
18 years old	Hyperactivity, increased speech, reduced sleep, impulsive behaviors, energy surge	Merriam-Webster Intelligence score: 54	Inpatient diagnosis: (1) Intellectual disability; and (2) Bipolar disorder (manic episode without psychotic symptoms). Treatment: Clozapine, oxcarbazepine
23 years old	Marriage		Emotional stability
24 years old	Gave birth to daughter, postpartum mood changes (hyper speech, excessive spending)	Treated with clozapine	Mood stabilized after 2 months, maintained on clozapine 25-75 mg/day
33 years old	Recurrent episodes: Hyperactivity, excessive speech, screaming, insomnia, high energy	Lurasidone 40-80 mg/day, clozapine 25-100 mg/day, lorazepam 2 mg/day	No significant improvement, continued emotional agitation and high-pitched screaming
33 years old (December 2021)	Sluggish movements and rigidity in posture	Discontinued clozapine and lurasidone, switched to olanzapine 5-20 mg/day	Worsened sleep, increased rigidity, difficulty swallowing
34 years old (January 2022)	Increased rigidity, fever (38.8 °C), sweating, elevated BP and HR, urinary/bowel incontinence	Emergency treatment, olanzapine discontinued, Diazepam (10 mg/day) intravenous injection, MECT	Fever and sweating subsided within 1 week, rigidity eased after 2 weeks, continued frequent screaming
34 years old (February-April 2023)	Decreased screaming, but inability to speak, swallow, walk, or perform basic self-care	Rehabilitation, nasal feeding tube, lithium carbonate sustained-release tablets 0.3-0.6 g/day	Improved swallowing by May 2023, slow return to autonomous eating, bowel movements, and basic communication by September 2023. Still unstable gait and prone to falling. Speech and life skills largely restored by April 2023
36 years old (January 2024)	Disease recurrence: Hyperactivity, excessive speech, reduced sleep, irritability, impulsivity	Olanzapine 125-5 mg/day, lithium carbonate sustained-release tablets 0.6-0.9 g/day, dextrose-potassium-chlorine-insulin drip, physical/psychological therapy	Significant mood improvement, better sleep, stable behavior within 2 weeks
36 years old (March 2024)	Stable mood, no disordered behavior, simple speech, good sleep	Outpatient treatment: Olanzapine 5 mg/day, lithium carbonate sustained-release tablet 0.9 g/day	Mood stable, no disordered behavior or speech issues, good sleep
36 years old (April 2024)	Stable mood, no disordered behavior, simple speech, good sleep	Outpatient treatment: Olanzapine 5 mg/day, lithium carbonate sustained-release tablet 0.9 g/day	Serum lithium concentration: 0.8 mmol/L, patient discharged

BP: Blood pressure; HR: Heart rate; MECT: Modified electroconvulsive therapy.