Aripiprazole, a medication used to treat the symptoms of schizophrenia and other psychotic disorders, is a potential therapeutic option for patients with Prader-Willi syndrome and psychosis, a new case report suggests.
The study, “Clinical Usefulness of Aripiprazole Treatment in a Girl with Prader-Willi Syndrome and Psychosis,” was published in the journal Clinical Psychopharmacology and Neurology.
Prader-Willi syndrome is associated with physical characteristics, including short stature, small hands and feet, and a distinctive facial appearance. Also, patients often develop some psychological and behavioral issues, including mood swings, stubbornness, aggression, repetitive speech, and affective disorders.
While these patients have a higher prevalence of major psychiatric illnesses, there is limited information about the effectiveness of psychopharmacological therapies in this population, in particular children and adolescents.
In a recent report, Wolfgang Briegel, MD, of the department of Child and Adolescent Psychiatry at Leopoldina Hospital in Schweinfurt, Germany, presented the case of a 16-year-old girl with Prader-Willi syndrome who also developed psychosis.
Five days before coming to the hospital, the girl began showing a lack of distance toward strangers, more aggressive behavior, and increasing agitation, with temper tantrums and sleep disturbances.
The girl said “she was electrically charged and that others should not touch her,” Briegel reported. She was refusing to eat and started wetting the bed.
Her clinical history revealed a low birth weight, deformed feet, and reduced muscle tone with consequent feeding problems. At five months old, she had surgery to correct some heart problems detected before her birth. At this point, doctors also noticed a global developmental delay.
Two months later, after genetic testing, she received a diagnosis of Prader-Willi syndrome, inherited from her mother — maternal uniparental disomy (mUPD) subtype. She was kept on a strict diet plan, with a total intake of 1,300 kcal (about 1,300 calories) per day.
At the age of 16 years and 9 months, the patient had a short stature (126 cm/49.6 inches) and was obese (54.5 kg/120 pounds) with a body mass index of 34.3 (kg/m²). Physical examination at the hospital also revealed a small head, reduced muscle tone, small hands, club feet, and strabismus.
During examination, the girl was very irritable, anxious, and agitated. She was unable to organize her speech properly, with frequent incoherence, stuttering, and obsessive repetition of random words. She also showed reduced eye contact, and signs of hallucinatory behaviors and paranoid delusions.
After conducting magnetic resonance imaging (MRI), the clinical team found an old lesion, but no signs of infection or a malignant tumor that might explain her change in behavior.
The patient was admitted with an initial diagnosis of brief psychotic disorder, and started treatment with 2 mg aripiprazole and 0.75 mg lorazepam per day, for anti-psychotic and anti-anxiety (anxiolytic) effects.
Afterward, the dose of aripiprazole was increased to 5 mg to achieve higher blood levels and a better overall distribution of the therapy, which led to a continuous reduction of her psychotic symptoms.
After 54 days in the hospital, with some overnights at home and some hours at school during the day, she was discharged with significant improvements in her social interactions, despite her intellectual disabilities.
“Her parents reported that she was 90% the same as before admission — a happy and curious girl without any behavior problems,” Briegel wrote.
Seven months after discharge, with her psychotic symptoms completely resolved, the dose of aripiprazole was reduced to 4 mg per day.
However, three months later, the patient developed another psychotic episode, this time without definite hallucinations. Once again, she was avoiding eye contact with others, squinted and sometimes seemed catatonic.
She was hospitalized for 27 days, during which the dose of aripiprazole was increased to 7 mg per day. This resulted in a relatively fast resolution of her psychotic symptoms.
Because both episodes occurred while she and her parents were on a cruise, it was discussed that these journeys could be a possible stressor that caused the psychotic episodes.
Despite some stressful life events, she has been stable and without any new psychotic episodes while taking aripiprazole 7 mg for about two years. She gained some weight during this period, but a strict diet was able to keep it stable at 56 kg (about 123 pounds).
“Regardless of the exact diagnosis, aripiprazole 5-7 mg per day demonstrated good efficacy in our patient leading to a complete resolution of psychotic symptoms,” Briegel wrote. “Aripiprazole might be a promising treatment approach in subjects with Prader-Willi syndrome and psychosis.”
Additional studies in larger groups of patients are now needed to confirm the benefits of aripiprazole in this population.
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