Use of ECT for Children With and Without Catatonia: A Single-Site Retrospective Analysis.

OBJECTIVES: The objective study was to investigate the safety and efficacy of electroconvulsive therapy (ECT) in a retrospective cohort of pediatric patients. METHODS: A single-site retrospective analysis was conducted of patients aged younger than 18 years who received ECT in a private university hospital from January 28, 2012 to April 8, 2023. Treatment efficacy and adverse events were determined retrospectively through review of the medical record. RESULTS: A total of 36 pediatric patients met the inclusion criteria. Catatonia was the most common presenting indication for ECT, followed by psychosis and suicidal ideation. For all patients, Clinical Global Impressions-Improvement scale scores indicated that it was very likely for a subject to experience at least "much improvement" with the estimated probability of receiving a Clinical Global Impressions-Improvement scale score better than 3 of 0.852 (t.s. = 16.3; P < 0.001; 95% confidence interval, 0.711-0.931). All patients with catatonia demonstrated a positive clinical response and experienced a statistically significant reduction in total Bush-Francis Catatonia Rating Scale scores observed (t = 11.9; df = 20; SD = 6.3; P < 0.001; 95% confidence interval, 12.6-17.9). No significant adverse events were reported for any patient in the cohort. However, 14 (38.9%) patients experienced prolonged seizures, all of which were terminated with propofol (mean, 49.7 mg). CONCLUSIONS: This study provides further data supporting the safe and effective use of pediatric ECT in the treatment of various psychiatric conditions. However, more research is needed to determine the risk factors associated with prolonged seizures and the optimal seizure parameters in young people.

Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families.

The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism spectrum disorders (ASD) presenting for microarray genetic testing. Clinical findings in Burnside-Butler syndrome include developmental and motor delays, congenital abnormalities, learning and behavioral problems, and abnormal brain findings. To better define symptom presentation, we performed comprehensive cognitive and behavioral testing, collected medical and family histories, and conducted clinical genetic evaluations. The 15q11.2 BP1-BP2 region includes the TUBGCP5, CYFIP1, NIPA1, and NIPA2 genes. To determine if additional genomic variation outside of the 15q11.2 region influences expression of symptoms in Burnside-Butler syndrome, whole-exome sequencing was performed on the parents and affected children for the first time in five families with at least one parent and child with the 15q1l.2 BP1-BP2 deletion. In total, there were 453 genes with possibly damaging variants identified across all of the affected children. Of these, 99 genes had exclusively de novo variants and 107 had variants inherited exclusively from the parent without the deletion. There were three genes (APBB1, GOLGA2, and MEOX1) with de novo variants that encode proteins evidenced to interact with CYFIP1. In addition, one other gene of interest (FAT3) had variants inherited from the parent without the deletion and encoded a protein interacting with CYFIP1. The affected individuals commonly displayed a neurodevelopmental phenotype including ASD, speech delay, abnormal reflexes, and coordination issues along with craniofacial findings and orthopedic-related connective tissue problems. Of the 453 genes with variants, 35 were associated with ASD. On average, each affected child had variants in 6 distinct ASD-associated genes (x¯ = 6.33, sd = 3.01). In addition, 32 genes with variants were included on clinical testing panels from Clinical Laboratory Improvement Amendments (CLIA) approved and accredited commercial laboratories reflecting other observed phenotypes. Notably, the dataset analyzed in this study was small and reported results will require validation in larger samples as well as functional follow-up. Regardless, we anticipate that results from our study will inform future research into the genetic factors influencing diverse symptoms in patients with Burnside-Butler syndrome, an emerging disorder with a neurodevelopmental behavioral phenotype.

Symptoms of Catatonia Observed in Down Syndrome Regressive Disorder: A Retrospective Analysis.

PURPOSE: Down Syndrome Regressive Disorder (DSRD) is a neuropsychiatric condition associated with severe symptomology and a negative impact on quality of life. DSRD frequently presents with catatonic symptoms. However, few studies have reported the specific catatonic symptoms that occur in DSRD. METHODS: We conducted a retrospective analysis of medical records in a large health system in the southern United States to identify patients with diagnoses of DS with catatonic symptoms who presented for clinical care between 1/1/2018 and 12/1/2023. Patients were included in the study if they had a diagnosis of DSRD or met the criteria for DSRD using consensus guidelines on retrospective chart review, and catatonia as confirmed in clinical documentation and had a full Bush Francis Catatonia Rating Scale (BFCRS) documented at the time of initial catatonia diagnosis. RESULTS: A total of nine patients who met the criteria for DSRD and catatonia using the BFCRS were identified. The average age of patients at the time of DSRD diagnosis was 21.1 years (SD = 13.87). The mean BFCRS score on initial evaluation was 17.3 (SD = 7.0) and the mean number of positive catatonia signs was 11.1 (SD = 1.5). Staring was present in all cases (n = 9, 100%), followed by mutism, grimacing, and rigidity (n = 7, 77.9%). CONCLUSIONS: In a sample of nine patients with DSRD, all patients were diagnosed with catatonia. Catatonia is severe if undiagnosed and untreated. Future research is needed to assess specific symptoms of catatonia in DSRD, and longitudinal outcomes to assess optimal means of treatment.

Diagnostic features of paediatric catatonia: multisite retrospective cohort study.

BACKGROUND: Catatonia is a neuropsychiatric disorder characterised by psychomotor changes that can affect individuals across the lifespan. Although features of catatonia have been described in adults, the most common clinical symptoms among paediatric patients with catatonia are not well characterised. AIMS: The goal of this study was to characterise the symptoms of catatonia demonstrated by paediatric patients, and to explore demographic and diagnostic factors associated with greater catatonia severity. METHOD: We conducted a multicentre retrospective cohort study, from 1 January 2018 to 6 January 2023, of patients aged 18 and younger with a clinical diagnosis of catatonia and symptom assessment using the Bush Francis Catatonia Rating Scale (BFCRS). RESULTS: A total of 143 patients met inclusion criteria. The median age was 15 (interquartile range: 13-16) years and 66 (46.2%) patients were female. Neurodevelopmental disabilities were present in 55 (38.5%) patients. Patients demonstrated a mean of 6.0 ± 2.1 signs of catatonia on the Bush Francis Catatonia Screening Item, with a mean BFCRS score of 15.0 ± 5.9. Among the 23 items of the BFCRS, six were present in >50% of patients (staring, mutism, immobility/stupor, withdrawal, posturing/catalepsy, rigidity), and four were present in <20% of cases (waxy flexibility, mitgehen, gegenhalten, grasp reflex). In an adjusted model, patients with neurodevelopmental disorders demonstrated greater BFCRS severity than those with other diagnoses. CONCLUSIONS: Catatonia was diagnosed in a range of mental health conditions. Further research is needed to define optimal diagnostic criteria for catatonia in paediatric patients, and clarify the clinical course of the disorder.

Exploring the Trajectory of Catatonia in Neurodiverse and Neurotypical Pediatric Hospitalizations: A Multicenter Longitudinal Analysis.

Objective: Catatonia is a neuropsychiatric disorder that occurs in pediatric patients with a range of associated medical, psychiatric, and neurodevelopmental disorders (NDDs). This study describes hospital care of pediatric catatonia patients and compares treatments for neurotypical patients and those with NDDs. Methods: Retrospective cohort study from 1/1/2018 to 6/1/2023 of two academic medical centers of patients aged 18 and younger with catatonia. Patients were retrospectively assessed using the clinical global impressions-improvement (CGI-I) by two independent reviewers. Results: One hundred sixty-five patients were hospitalized for catatonia, of whom 50.3% had an NDD. Median age was 15. One hundred sixty-four patients were treated with a benzodiazepine, with a median maximum 24-hour dose of 6 mg lorazepam-equivalents, which did not differ for patients with and without NDDs. Electroconvulsive therapy (ECT) was utilized in 14.5% of patients. Median length of medical hospitalization was 5 days and hospitalizations were longer in neurotypical patients than in patients with NDDs. In an ordinal regression model, the probability of observing at least "much improvement" (CGI < 3) was 88.3% (95% CI: 82.4% to 92.3%), with NDD diagnosis associated with a lower odds of clinical response. Conclusions: The probability of patients achieving a CGI-I score indicating at least "much improvement" was 88.3%. Administered benzodiazepine dose and ECT treatment were similar for all patients, but neurotypical patients had longer hospitalizations than those with NDDs and had a higher odds of a more favorable clinical response. Research under controlled conditions is needed to optimize and endure equitable catatonia treatment in youth.

Alternative psychopharmacologic treatments for pediatric catatonia: a retrospective analysis.

Introduction: Pediatric catatonia is a highly co-morbid condition with treatment options often limited to electroconvulsive therapy (ECT) or lorazepam. However, lorazepam may not be readily available, and access to ECT is limited by restrictive legislation and stigma. This study aims to provide alternative treatment options for pediatric catatonia. Methods: The study involved a single-site retrospective analysis of a private university hospital in the southern United States. The study included patients under eighteen with catatonia who received psychopharmacologic treatment with an agent other than lorazepam. The patients were evaluated with the Bush-Francis Catatonia Rating Scale (BFCRS), Kanner Catatonia Severity Scale (KCS), and Kanner Catatonia Examination (KCE) at the time of initial evaluation and upon stabilization. A retrospective clinical global impressions-improvement (CGI-I) score was assigned by four authors. Results: 102 pediatric patients diagnosed with catatonia were identified, and 31 met criteria for the study. 20 (65%) were white, 6 (19%) were Black, 4 (13%) were Hispanic, and 1 (3%) were Indian. Most patients (N = 18; 58%) were insured by Medicaid. The mean age at the time of catatonia diagnosis was 13.5 years. All patients were stabilized on either clonazepam or diazepam, with 21 (68%) requiring treatment with an additional medication of either an anti-epileptic, N-methyl-D-aspartate (NMDA) receptor antagonist, and aripiprazole or clozapine. Statistically significant reductions in the BFCRS [t = 11.2, df = 30, std = 6.3, p < 0.001, 95% CI = (7.8, 15.1)], KCS [t = 4.6, df = 38, p < 0.001, 95% CI = (12.0, 31.0)], and KCE [t = 7.8, df = 30, std = 1.8, p < 0.001, 95% CI = (1.9, 3.2)] were observed. For CGI-I the results showed that the estimated probability of observing a score better than no change (>4) is 0.976 [t.s. = 43.2, p < 0.001, 95% CI = (0.931,0.992)], indicating the average subject is expected to experience some improvement. Discussion: In conclusion, all patients responded to these treatments with improvement in their catatonic symptoms. Alternative pharmacologic interventions for catatonia, including benzodiazepines other than lorazepam, valproic acid, NMDA receptor antagonists, and atypical antipsychotics were safe and effective in treating catatonia in this population.