1. Pedopsiquiatria, Área da Mulher, Criança e Adolescente, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa.
- Poster apresentado no 33rd ECNP (European Congress of Neuropsychopharmacology) Congress Virtual
- Reunião internacional
Resumo:
Background: Disruptive and impulse-control disorders are very common psychiatric conditions among children and adolescents, and carry heavy burden for many. Diagnosing intermittent explosive disorder requires repetitive, persistent, out of proportion and impulsive disruption of basic rights and age-appropriate social norms, impairing the patient functioning. Treatment frequently includes psychotherapy and the use of antipsychotics, occasionally demanding a combination of many. 15q13.3 microduplication syndrome has been associated with minor facial dysmorphism and multiple neuropsychiatric disorders such as autism spectrum disorder, childhood-onset schizophrenia, epilepsy, intellectual disability and recurrent rage outbursts, among others. This association is suggested to be related to the disruption of the CHRNA7 gene, causing deficient α7 nicotinic cholinergic receptor-mediated neurotransmission. Regulating transduction of acetylcholine, this receptor is thought to have an important role in the brain development, particularly attention, cognition and sociability, hence its association with neurodevelopmental disorders.
Objective: Our main goal was to present a case of intermittent explosive disorder in a patient with 15q13.3 microduplication syndrome, particularly its pharmacological management.
Methods/Results: A 4-year-old male was referred to our Child and Adolescent Psychiatric Outpatient Unit in 2011 due to severe behavioral and impulse control issues. He was diagnosed with a disruptive, impulse-control and conduct disorder, psychotic disorder and a mild intellectual developmental disorder, for which he began psychotherapeutic and antipsychotic treatment, among other therapies. We managed to cease psychotic symptoms such as disorganized thinking, but failed to contain the rage outbursts, which led him to seek the emergency unit several times, and even to the inpatient unit. In addition, the rage outbursts forced many attempts to try different neuroleptics, such as paliperidone, aripiprazole or cyamenazine, and drugs from other pharmacological classes like antiepileptics, therefore the patient began showing side effects, such has sialorrhea and hypotonia. At the age of 10, the patient and his family were referred to a genetics consultation. He was diagnosed with a 15q13.3 microduplication syndrome. We hypothesized that the aggressive behavior and lack of impulse control reflected the impairment of the gene CHRNA7, as it has been suggested as pathogenic in some neuropsychiatric disorders. At the age of 13, the patient started treatment with the α7 nicotinic cholinergic receptor modulator and acetylcholinesterase inhibitor galantamine. This dramatically reduced the frequency and magnitude of the outbursts, which allowed a significant decline in the neuroleptic dosage and stopping their side effects.
Conclusion: Given the ineffectiveness of the neuroleptic treatment in these patients, we find it of major importance that this genetic syndrome is identified, allowing the treatment to be genetically guided. This case emphasizes the importance of further investigation and adoption of novel therapies when patients with impulse control disorders do not respond to antipsychotics, or when important side effects occur. Nothing to disclose.
Palavras Chave: genética, impulsividade, pedopsiquiatria, psicofarmacologia