Catatonia has many potential underlying causes, but in some patients, no clear etiology is identified, sparking growing interest in its genetic basis. We aimed to provide the first comprehensive synthesis of genetic abnormalities in catatonia.

In this systematic review (PROSPERO CRD42023455118) we searched MEDLINE All, Embase Classic + Embase, PsycINFO, and AMED up to August 15, 2023, for studies on genetic testing and catatonia phenotyping in all age groups. Catatonia was diagnosed using specified diagnostic criteria or description of clinical features. Risk of bias was assessed using the Joanna Briggs Institute quality assessment tools. Results were summarized with a narrative synthesis.

We included 99 studies involving 8600 individuals. Sex was reported for 6080 individuals, of whom 3208 (52.8%) were male. Mean age at onset of catatonia was 28.8 years (SD 16.3). The median duration of the index catatonic episode was 180 days (IQR 38 to 668). Stupor and mutism were the most frequently reported symptoms. Forty-seven genetic conditions were reported in catatonia, including Phelan-McDermid syndrome (n = 80), 22q11.2 deletion syndrome (n = 23), and Down’s syndrome (n = 19). Study quality was good in 29 studies, moderate in 53, and poor in 17. The major focus of association studies has centered on periodic catatonia; despite identifying candidate genes at both 22q13 and 15q15, none have been replicated.

Catatonia can manifest in a wide range of genetic syndromes, suggesting a shared vulnerability across diverse genetic and developmental disorders. We did not identify a unique phenomenology or treatment response profile in genetic associations of catatonia.

A patient with Down’s syndrome, with dermatofibrosarcoma protuberans, was intended for adjuvant radiotherapy. The lesion was on the parietal region of the head of the patient. Given the proximity of the lesion to the brain, the curvature of the lesion, and potential complications of anaesthesia for a Down’s syndrome patient, brachytherapy was the appropriate treatment. Anaesthesia complications for patients with Down’s syndrome are airway infections, atlanto-occipital dislocation and bradycardia.

Instead of sedating the patient in order to prepare a mould applicator, a 3D-printed model of the patient’s head was used. This allowed us greater time to prepare the applicator in a more relaxed environment.

The fit of the mould applicator on the patient was satisfactory. Minimum air gaps were observed. The treatment could be completed with sedation only.

We were able to achieve an equivalent dose of 44·69 Gy in 5 sessions of brachytherapy, significantly reducing the anaesthesia sessions and the associated risks. A drawback of 3D printing is that it takes several hours to print the model.

To describe the cardiac lesions seen in children with trisomy 21, the outcome of these children and rates of access to corrective surgery at the Bustamante Hospital for Children.

A 10-year retrospective review of the records of trisomy 21 patients with cardiac lesions referred to the Bustamante Hospital for Children was conducted.

A total of 76 patients were enrolled in the study, 30 (40%) males and 46 (60%) females; among these 110 cardiac lesions were detected. A total of 20 (26%) patients died, 48 (63%) survived, and for 8 (11%) the status was unknown. The most common lesion was the atrioventricular septal defect, which accounted for 41 (37%) of all the lesions and occurred as a single defect in 24 (53%) patients. At presentation, 33 (46%) patients had one or more medical complication; 30 (91%) had cardiac failure, 10 (30%) had pneumonia and 5 (15%) had evidence of systemic pulmonary arterial pressures. Cardiac catheterisation was recommended for 43 (56%) patients but only 10 (23%) had the procedure done. Surgery was recommended for 60 (79%) patients; of these 6 (10%) patients had the procedure done. The median time of survival was 88 months (7.3 years). The age of presentation was not found to significantly affect outcome.

Trisomy 21 patients with cardiac lesions have high morbidity and mortality. This morbidity and mortality could be reduced if surgical intervention was offered routinely.