This report highlights a rare single-gene cause of early-onset, treatment-resistant schizophrenia, and its unique responsiveness to clozapine therapy. This case describes a pediatric female who was diagnosed with early-onset schizophrenia and catatonia in her early adolescence, and was later found to have DLG4-related synaptopathy, also known as SHINE syndrome. SHINE syndrome is a rare neurodevelopmental disorder caused by dysfunction of the postsynaptic density protein-95 (PSD-95), encoded by the DLG4 gene. After failing three antipsychotic drug treatments, the patient was started on clozapine, which resulted in significant improvements in positive and negative symptoms. This case illustrates the impact of clozapine in treatment-resistant early-onset psychosis and exemplifies practical implications for genetic testing in early-onset schizophrenia.

Traditional hearing conservation programs are based on the premise that noise dose, as measured by the time-weighted average noise level, is the primary risk factor associated with occupational hearing loss and that permanent threshold shifts are the most relevant outcome measures for determining when a noise-related hearing loss has occurred. However, recent studies in animal models have suggested that significant neurological damage to the hearing system can occur from noise exposures even when they are not severe enough to result in permanent threshold shifts. This has led to a number of studies attempting to relate subjective measures of noise exposure to subjective measures of hearing difficulty and suprathreshold measures of hearing performance (e.g., speech-in-noise tests). In this study, 3,330 U.S. service members volunteered to complete a survey on noise exposure, subjective hearing complaints, and tinnitus in conjunction with their annual hearing tests. Two questions were also included about the frequency and duration of temporary hearing losses that may have been experienced by the service member. The results show that subjective reports of temporary threshold shifts were substantially more predictive of tinnitus and other hearing complaints than more traditional questions based on the frequency of noise exposure.