RESUMO
Primrose syndrome (PS) is a rare genetic disease characterized by developmental delay, intellectual disability, sensorineural hearing loss, and dysmorphic features. PS is caused by de novo pathogenic variants in the ZBTB20 gene, which encodes a transcription factor modulating neurogenesis. We describe resolution with sertraline of neurobehavioral difficulties in a 17-year-old Hispanic male with PS with de novo heterozygous c.1916G > A (p.C639Y) variant of ZBTB20. Neurobehavioral difficulties included aggression towards self and others, irritability, tearfulness, and mood liability that did not respond to behavioral interventions or aripiprazole. Treatment with sertraline, a medication indicated for psychiatric disorders including anxiety and depression, led to the resolution of neurobehavioral difficulties after 2 weeks of initiation of medication. The treatment course suggests that selective serotonin reuptake inhibitors, such as sertraline, may be a useful tool for neurobehavioral difficulties in PS over antipsychotics that are accompanied by complex side effect profiles, and suggest that anxiety is the primary cause of the neurobehavioral difficulties in this patient.
RESUMO
The mechanism of action of electroconvulsive therapy (ECT) is not fully elucidated, with prevailing theories ranging from neuroendocrinological to neuroplasticity effects of ECT or epileptiform brain plasticity. Youth with autism can present with catatonia. ECT is a treatment that can safely and rapidly resolve catatonia in autism and should be considered promptly. The literature available for ECT use in youth with autism is consistently growing. Under-recognition of the catatonic syndrome and delayed diagnosis and implementation of the anticatatonic treatment paradigms, including ECT, as well as stigma and lack of knowledge of ECT remain clinical stumbling blocks.
Assuntos
Transtorno Autístico , Catatonia , Eletroconvulsoterapia , Adolescente , Transtorno Autístico/terapia , Catatonia/terapia , HumanosRESUMO
The mechanism of action of electroconvulsive therapy (ECT) is not fully elucidated, with prevailing theories ranging from neuroendocrinological to neuroplasticity effects of ECT or epileptiform brain plasticity. Youth with autism can present with catatonia. ECT is a treatment that can safely and rapidly resolve catatonia in autism and should be considered promptly. The literature available for ECT use in youth with autism is consistently growing. Under-recognition of the catatonic syndrome and delayed diagnosis and implementation of the anticatatonic treatment paradigms, including ECT, as well as stigma and lack of knowledge of ECT remain clinical stumbling blocks.