Gabriele Arienti

1. Couvade syndrome, often described as the male analog of pseudocyesis, is a poorly understood condition in which expectant fathers develop somatic and psychological symptoms mirroring those of th...

Background/Objectives: Inflammatory bowel diseases (IBDs) are relapsing–remitting gastrointestinal disorders often emerging in adolescence and frequently associated with psychiatric co-morbidities, including eating disorders (EDs). Deficiency in interoception—awareness of internal bodily sensations—is a transdiagnostic feature in EDs, with emerging evidence suggesting its relevance also in IBDs. This study aimed to assess interoceptive abilities in adolescents with IBDs compared to healthy adolescents. Methods: A total of 76 patients with IBDs and 90 healthy controls were enrolled in the study. All participants completed a comprehensive psychometric assessment, including measures of interoceptive sensibility (MAIA-2) and eating-related symptomatology (EDI-3). Results: Up to one in six (15.8%) patients with IBDs were found to be at high risk of developing EDs (EDI-3 Eating Disorder Risk Composite scale >70th percentile). Mean MAIA-2 scores were largely comparable, with the exception of the MAIA-2 Trusting subscale, which assesses whether the experience of one’s body is rated as safe and trustworthy. Specifically, patients with IBDs at high risk of developing EDs reported lower scores than both healthy controls and patients with IBDs at low risk of developing EDs, with a statistically significant difference emerging in the comparison with the latter group (p = 0.044). Conclusions: Adolescents with IBDs who report an elevated risk of developing eating disorders have a psychological profile characterised by increased disordered eating symptomatology, accompanied by selective impairment in interoceptive trust, as evidenced by reduced trust in internal bodily signal. These findings highlight the clinical relevance of thorough clinical assessment and early psychological intervention in this vulnerable population.

Background: Oculogyric crisis and other acute dystonic reactions have been reported as a rare adverse effect of aripiprazole, a third-generation antidopaminergic medication used for the treatment of multiple neuropsychiatric conditions, including psychotic disorders, affective disorders, obsessive-compulsive disorder, and neurodevelopmental disorders. Case description: We document two cases (two females aged 16 and 22 years) diagnosed with a neurodevelopmental tic disorder (Tourette syndrome), who developed oculogyric crisis while taking medium/high-dose aripiprazole 20-30 mg daily as a first-line anti-tic agent. Their acute dystonic manifestations completely regressed following dose reduction of aripiprazole. Discussion: Aripiprazole-induced oculogyric crisis has previously been reported in a total of 18 cases (9 females, age range 11–28 years). Of these, only two (an 18-year-old male and a 21-year-old female) were taking aripiprazole for their tic disorder. In addition to further documenting treatment-emergent oculogyric crisis in patients with Tourette syndrome taking aripiprazole for the treatment of their tics, our reports raise the possibility of dose-dependent mechanisms underlying the development of oculogyric crisis, at least in selected cases.

Background: Female individuals with inflammatory bowel diseases (IBDs) are more likely to develop restrictive eating disorders (REDs), with both conditions appearing to share common pathophysiological pathways. We conducted a case–control study exploring eating symptomatology and interoceptive profiles in female adolescents with IBDs compared with adolescents diagnosed with REDs, in order to test the hypothesis that the two clinical populations exhibit similar interoceptive characteristics. Methods: We recruited 33 female adolescents with IBDs and 54 controls with REDs matched for age and gender. All participants completed a validated psychometric battery assessing eating disorder features (EDI-3) and interoceptive awareness (MAIA-2). Results: Twenty-seven percent of patients with IBD scored above the cut-off (>70th percentile) on the EDI-3 Eating Disorder Risk Composite (EDRC), showing an eating and interoceptive profile comparable to that of patients with REDs. The two sub-cohorts within the IBD sample differed in the ‘Not-Worrying’ and ‘Trusting’ MAIA-2 subscales, with the IBD cohort at risk of developing an ED reporting lower scores. Conclusions: Our findings indicate comparable interoceptive profiles between adolescents with IBDs who are at risk of developing EDs and patients with a confirmed diagnosis of REDs. This similarity underscores the need to further investigate the shared pathogenic mechanisms underlying these conditions, particularly the role of the gut–brain axis (GBA).

Background: Myopia has been reported as a rare adverse effect of aripiprazole, a third-generation antidopaminergic medication used for the treatment of different neuropsychiatric conditions, including psychotic disorders, affective disorders, and obsessive-compulsive disorder. Case description: We document the rare case of a 29-year-old woman diagnosed with a neurodevelopmental tic disorder (Tourette syndrome) who developed bilateral myopia while taking aripiprazole 15 mg daily as a first-line anti-tic agent. Her myopia completely regressed following a decrease in the dose of aripiprazole from 15 mg to 10 mg daily. Discussion: To date, a total of 11 cases presenting with aripiprazole-induced reversible myopia (9 females, age range 19–34 years) have been reported. In addition to broadening the spectrum of the treated conditions, our case report raises the possibility of dose-dependent mechanisms underlying the development of myopia, at least in selected cases.

Background: SRRM2-related neurodevelopmental disorder is a recently described genetic diagnosis caused by loss-of-function variants. The clinical presentation is characterised by a developmental delay with mild intellectual disability, occasionally associated with features of autism spectrum disorder and/or attention-deficit/hyperactivity disorder, as well as inconsistent dysmorphic features, hypotonia, and obesity. Case description: We document the rare case of a 30-year-old man diagnosed with neurodevelopmental disorder and juvenile-onset tics associated with a microdeletion involving the SRRM2 gene. He initially presented with simple motor and vocal tics in early adulthood and subsequently developed handwriting tics and limb posturing (catatonic tics). Tic severity was rated as moderate-to-marked (Yale Global Tic Severity Scale score of 55/100) and treatment recommendations included alpha-2 agonists. Discussion: To date, a total of 37 cases presenting with loss-of-function mutations in SRRM2 have been reported as neurodevelopmental disease-causing mutations. Of these, 21 were males and none had tics as part of their neurodevelopmental manifestations. Our case report widens the spectrum of neurodevelopmental disorders observed in the context of SRRM2 gene microdeletions and prompts further research to disentangle the contributions of genetic and environmental factors to variable phenotypic expressions.

Background: Individuals with inflammatory bowel diseases (IBDs) have an increased risk of developing psychiatric co-morbidities, including restrictive eating disorders (REDs), with which they share common pathogenic mechanisms, including gut–brain axis dysregulation. We conducted a case–control study systematically exploring the psychopathological profiles and alexithymia in adolescents with IBDs compared with a clinical group of adolescents diagnosed with REDs in order to test the hypothesis of common psychological characteristics between the two patient populations. Methods: We recruited 76 patients with IBDs and 76 age-matched controls with REDs (64 adolescents with anorexia nervosa and 12 adolescents with avoidant/restrictive food intake disorder). All participants completed a validated psychometric battery assessing psychological symptoms (SCL-90-R), ED features (EDI-3), and alexithymia (TAS-20). Comprehensive socio-demographic and clinical data were extracted from the medical records. Results: A total of 12 patients with IBDs (15.8%) scored higher than the cut-off (>70th percentile) on the EDI-3 scale for Eating Disorder Risk (EDI-EDRC), with a psychological profile comparable to RED patients. Female gender (OR = 0.133, p = 0.020) and longer disease duration (OR = 1.055, p = 0.036) were identified as significant risk factors for the development of EDs. Conclusions: Our findings suggest common psychological traits between patients with REDs and patients with IBDs at risk of developing EDs during adolescence, highlighting the need for early screening for EDs in patients with IBDs who present with specific socio-demographic and disease characteristics.

Introduction: Little is known about thepsychological correlates of inflammatory bowel diseases (IBDs) in the pediatric population. We, therefore, conducted a case-control study systematically exploring psychopathological profiles and alexithymia in adolescents with IBDs. Methods: We recruited 52 patients with IBDs (of whom 43 in clinical remission) and 52 age- and gender-matched healthy controls. All participants completed a validated psychometric battery assessing psychological symptoms Symptom Checklist-90-Revised and alexithymia Toronto Alexithymia Scale-20. Results: Adolescents with IBDs reported significantly higher scores across all psychopathological domains compared to controls, with more pronounced differences in depression and obsessive-compulsive symptoms (both P < 0.001). However, there were no significant differences in alexithymia scores between the two groups. Conclusion: These findings underscore the psychological distress experienced by adolescents with IBDs, emphasizing the importance of early identification and intervention to prevent the development of fully fledged psychiatric disorders. Further research is needed to better characterize the psychopathological profiles of different clinical phenotypes of IBDs and to explore possible correlations with the clinical course of these chronic conditions.

Background/Objectives: The co-morbidity between neurodevelopmental tics and functional tic-like behaviors (FTBs) in patients with Tourette syndrome (TS) is relatively under-investigated. The demographic and clinical characteristics of a large sample of patients with TS who presented with co-morbid FTBs (functional overlay) were assessed to raise awareness of this complex clinical presentation and to shed light on the differential diagnosis between the two conditions. Methods: We analyzed the clinical data of 63 patients (44 females, mean age 24 years, range 13–40) with pre-existing TS who (sub)acutely developed co-morbid FTBs (TS + FTBs) after the onset of the COVID-19 pandemic and compared them with 63 age- and gender-matched controls with TS (neurodevelopmental tics only). The diagnosis of co-morbid FTBs was validated by the European Society for the Study of Tourette Syndrome (ESSTS) criteria. Results: Complex vocal tics (p < 0.001), including coprolalia (p = 0.002), and self-injurious behaviors (p < 0.001), often as part of tic attacks (p < 0.001), were confirmed to be more commonly reported by the group of patients with TS + FTBs, who were also more likely to present with anxiety (p < 0.001) and other functional neurological symptoms (p < 0.001) compared to patients with TS. Conclusions: Patients with TS and co-morbid FTBs can pose significant diagnostic and treatment challenges. By systematically applying ESSTS criteria, we confirmed specific red flags for the diagnosis of functional overlay in patients with TS. The correct identification of this composite clinical phenotype plays a key role in preventing the misdiagnosis of treatment-resistant TS and implementing tailored treatment interventions.