A case of Pitt-Hopkins syndrome: psychopharmacological approach for anxiety, insomnia, and agitation.

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder resulting from TCF4 gene mutations which is characterized by dysmorphic facial features, psychomotor delay, intellectual disability, breathing anomalies, and seizures. Psychiatric conditions are occasionally seen. We present the case report of a seven-year-old PTHS patient with anxiety, insomnia, and agitation. We discuss the psychopharmacological intervention options for this patient. The present case study reports on a 7-year-old female with PTHS, autism spectrum disorder (ASD), and intellectual disability. She had insomnia, crying spells and agitation complaints. For anxiety symptoms and agitation, risperidone, fluoxetine, and clonazepam treatment were given by the neurologist which caused behavioral disinhibition, paroxysmal agitation and no benefit. After admission to our hospital, aripiprazole and hydroxyzine were prescribed for anxiety and ASD-related irritability. She showed a minimal improvement but hyperventilation attacks were still ongoing. Hydroxyzine was stopped, and quetiapine was given to eliminate sleep disturbance. Her sleep period went up to eleven hours. For the anxiety symptoms, escitalopram was prescribed. She showed improvements in sleep, diminished hyperactivity and decreased frequency of abnormal breathing spells. Also, enhancement of social communication skills like increased eye contact and response to her name was observed. Patients with genetic syndromes may have various psychiatric complaints. Psychopharmacological interventions should be administered carefully for the side effects.

Forensic psychiatric and criminal dimensions of juvenile homicide/attempted homicide cases in Turkey.

OBJECTIVE: This study aimed to analyze a sample (n = 65) of juvenile homicide/attempted homicide cases in terms of psychiatric, demographic, criminal characteristics, IQ scores, and Rorschach test (where available) characteristics and decisions on criminal responsibility. METHOD: Data were collected through a retrospective chart review of cases between the ages of 12 and 18 at the time of the offense, who were referred to the Observation Department of the Council of Forensic Medicine (Adli Tip Kurumu Baskanligi, Gözlem Ihtisas Dairesi) for determination of criminal responsibility between 2014 and 2019 and who were assessed under inpatient status by law. RESULTS: There were 65 juvenile homicide/attempted homicide offenders (7 female, 58 male). Reduced or no criminal liability was found in seven cases (10.7 %). Recent and past trauma was found in 21.5 % and 16.9 % of our cases respectively. The percentage of alcohol or illicit drug use disorder was 35.4 %. Non-suicidal self-injury was found in 38.5 % of our cases, and 6.4 % of these had a concurrent suicide attempt. Most of our cases (55.4 %) were neither in employment nor in education at the time of the offense. CONCLUSION: The juvenile homicide/attempted homicide offenders were a heterogeneous group. Rates of serious mental illness were low. School and working functionality were low. Antisocial personality traits, alcohol/substance use disorders, past and recent trauma, emotional regulation problems, and poor school and work functioning appear to be important in the development of this serious offending.

The Contribution of Explainable Machine Learning Algorithms Using ROI-based Brain Surface Morphology Parameters in Distinguishing Early-onset Schizophrenia From Bipolar Disorder.

RATIONALE AND OBJECTIVES: To differentiate early-onset schizophrenia (EOS) from early-onset bipolar disorder (EBD) using surface-based morphometry measurements and brain volumes using machine learning (ML) algorithms. METHOD: High-resolution T1-weighted images were obtained to measure cortical thickness (CT), gyrification, gyrification index (GI), sulcal depth (SD), fractal dimension (FD), and brain volumes. After the feature selection step, ML classifiers were applied for each feature set and the combination of them. The SHapley Additive exPlanations (SHAP) technique was implemented to interpret the contribution of each feature. FINDINGS: 144 adolescents (16.2 ± 1.4 years, female=39%) with EOS (n = 81) and EBD (n = 63) were included. The Adaptive Boosting (AdaBoost) algorithm had the highest accuracy (82.75%) in the whole dataset that includes all variables from Destrieux atlas. The best-performing algorithms were K-nearest neighbors (KNN) for FD subset, support vector machine (SVM) for SD subset, and AdaBoost for GI subset. The KNN algorithm had the highest accuracy (accuracy=79.31%) in the whole dataset from the Desikan-Killiany-Tourville atlas. CONCLUSION: This study demonstrates the use of ML in the differential diagnosis of EOS and EBD using surface-based morphometry measurements. Future studies could focus on multicenter data for the validation of these results.

The association between plasma thyroxine levels and neurocognitive impairment in early-onset schizophrenia and other psychosis spectrum disorders.

BACKGROUND/AIM: Limited studies have delved into the association between thyroid hormones and neurocognition in schizophrenia. We aimed to evaluate the relationship between thyroid hormone levels and neurocognitive functions in patients with schizophrenia and other psychosis spectrum disorders (SSD). METHOD: A total of 135 patients with early-onset SSD were included in the study. The participants underwent a cognitive assessment. Blood samples were collected to measure serum levels of thyroid-stimulating hormone (TSH), free thyroxine (fT4), and free triiodothyronine (fT3). Subgroup analyses were conducted based on the severity of the psychosis. FINDINGS: The results revealed a significant association between fT4 levels and various cognitive domains, including processing speed, verbal fluency, working memory, verbal learning, verbal memory, and visual memory. However, serum TSH and fT3 levels exhibited no significant association with neurocognitive impairment in adjusted linear regression models. Specifically, the correlation between fT4 levels and global cognition was more pronounced in patients with higher scores. CONCLUSIONS: Serum fT4 levels were associated with the performance across various cognitive domains in cases of early-onset psychotic disorders. This correlation was accentuated among patients with higher illness severity. Future studies could focus on the effects of specific pathways that can affect the course and progression of psychosis.

Illness-related outcomes of illicit substance use disorder in adolescents with early onset schizophrenia: a multicenter study.

OBJECTIVES: Lifetime co-occurring substance use disorders are common at the time of presentation for the treatment of primary psychosis. Our aim was to investigate the clinical characteristics of adolescents with early-onset schizophrenia/schizoaffective disorder (EOS), categorized as either with (EOS + SUD) or without SUD (non-SUD/EOS), in a multi-center sample. METHODS: Between 2016 and 2022, 255 patients were evaluated across three tertiary-care inpatient units. Diagnoses were confirmed by the treating physician according to the DSM-5 during the hospital stay. The severity of symptoms was measured using the Positive and Negative Syndrome Scale (PANSS). RESULTS: The EOS + SUD group exhibited a higher illness onset, fewer years of education, longer duration of untreated psychosis (DUP), a higher frequency of male gender, more frequent hospitalizations, increased use of clozapine and zuclopenthixol LAI, along with higher rates of post-traumatic stress disorder and conduct disorder. Notably, differences in DUP, clozapine use, and the number of hospitalizations did not persist in the multivariate logistic regression model. CONCLUSIONS: Our findings support the notion of SUD playing a role in modifying the course of illness in EOS. Future studies should emphasize exploring treatment responses to medications and interventions among youth with dual diagnoses.