Phelan-McDermid syndrome is a rare genetic disorder characterized by various neurodevelopmental, medical, and psychiatric issues. Although bipolar disorder-like presentations and catatonia are particularly common, psychosis has also been reported but is less well described. As such, this systematic review sought to characterize the phenomenology of psychosis in Phelan-McDermid syndrome, clarify the association of psychotic symptoms with other neuropsychiatric features of the disorder, and describe antipsychotic treatment response.

A literature search was completed in July 2024 using PubMed and Scopus. Only English-language articles that reported the occurrence of psychotic symptoms in Phelan-McDermid syndrome were eligible for inclusion. 18 articles describing 35 individuals were included in the main analyses. Three additional articles of relevance are discussed separately, as they either provided limited clinical information or did not present data in a patient-specific manner.

The average age of psychosis onset was ∼17 years, and 65% of individuals developed symptoms at or before age 15. ∼69% of individuals also experienced catatonia, ∼81% experienced mood symptoms, and 50% experienced both. Visual hallucinations were the most commonly reported psychotic symptom. Where reported, ∼76% (13/17) of individuals exhibited at least a partial and/or temporary response to antipsychotic therapy.

Psychotic presentations in Phelan-McDermid syndrome may qualitatively differ from schizophrenia. Although numerous antipsychotics may be efficacious in the treatment of Phelan-McDermid syndrome-associated psychosis, this review most importantly highlights the paucity of available high-quality evidence to guide treatment decisions in this respect, and as such indicates the need for more reports to be published.

Mechanisms of sleep disorders in fibromyalgia (FM) patients, such as insomnia, early morning awakenings and poor quality sleep, have not yet been proven and no consistent and effective treatment is yet available. The aim of this study was to investigate the pineal gland volume and the relationship between total fiber count, total fiber volume and total fiber length of the spinoreticular tract involved in regulation of sleep and wakefulness in terms of the mechanism of sleep disturbance.

This study included only female cases, 31 with fibromyalgia and 31 controls. Pittsburgh Sleep Quality Index (PSQI) was used to assess sleep quality. Tractography of targeted pathway from brain diffusion MR images was calculated in DSI Studio program and the volume of the pineal gland was calculated in ITK-SNAP program.

The mean volume of the pineal gland was higher in control group (218.84±64.45 mm3) than in fibromyalgia group (174.77±48.65 mm3), which was statistically significant (p=0.004). However, there was no statistically significant difference between two groups in total spinoreticular tract (TSRT), total volume (TSRTV), TSRT FA, TSRT MD, TSRT AD and TSRT RD of spinoreticular tract, which is involved in the regulation of sleep and wakefulness (p>0.05).

In conclusion, it is thought that the endocrine system may be more related to sleep disturbance in individuals with FM than central nervous system. Therefore, we believe that it may be more appropriate to work on the endocrine system rather than neural system in the treatment of sleep disturbance in patients with FM.

This study aims to assess the correlation between NAA (N-acetyl-l-aspartate), CHO (choline), and CRE (creatine) levels in the hippocampus regions of individuals suffering from obsessive-compulsive disorder (OCD) and defensive styles of the ego.

The study group was composed of twenty patients with OCD and twenty healthy controls. NAA, CHO, and CRE values in the hippocampal region using proton magnetic resonance spectroscopy (1H-MRS) were measured. Participants’ defense styles were ascertained by administering the Defense Style Questionnaire-40.

The patient group’s NAA levels were considerably lower than the control group’s on both sides of the hippocampus. The levels of CHO and CRE did not significantly differ between the two groups. The following statistically significant correlations were discovered: in the comparison group, there were negative correlations between the scores of mature defense styles and the right and left CHO levels, as well as between the immature defense mechanism scores and the right NAA levels in both the patient and control groups. In the patient group, there were also negative correlations between the left NAA values and the scores of mature defense styles.

OCD patients have lower levels of NAA in the hippocampus. To validate and extend the current findings, more research involving a greater sample size is required.