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1.
Brain ; 147(4): 1423-1435, 2024 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-38537253

RESUMEN

Psychomotor slowing is a frequent symptom of schizophrenia. Short-interval intracortical inhibition assessed by transcranial magnetic stimulation demonstrated inhibitory dysfunction in schizophrenia. The inhibitory deficit results from additional noise during information processing in the motor system in psychosis. Here, we tested whether cortical inhibitory dysfunction was linked to psychomotor slowing and motor network alterations. In this cross-sectional study, we included 60 patients with schizophrenia and psychomotor slowing determined by the Salpêtrière Retardation Rating Scale, 23 patients without slowing and 40 healthy control participants. We acquired single and double-pulse transcranial magnetic stimulation effects from the left primary motor cortex, resting-state functional connectivity and diffusion imaging on the same day. Groups were compared on resting motor threshold, amplitude of the motor evoked potentials, as well as short-interval intracortical inhibition. Regression analyses calculated the association between motor evoked potential amplitudes or cortical inhibition with seed-based resting-state functional connectivity from the left primary motor cortex and fractional anisotropy at whole brain level and within major motor tracts. In patients with schizophrenia and psychomotor slowing, we observed lower amplitudes of motor evoked potentials, while the short-interval intracortical inhibition/motor evoked potentials amplitude ratio was higher than in healthy controls, suggesting lower cortical inhibition in these patients. Patients without slowing also had lower amplitudes of motor evoked potentials. Across the combined patient sample, cortical inhibition deficits were linked to more motor coordination impairments. In patients with schizophrenia and psychomotor slowing, lower amplitudes of motor evoked potentials were associated with lower fractional anisotropy in motor tracts. Moreover, resting-state functional connectivity between the primary motor cortex, the anterior cingulate cortex and the cerebellum increased with stronger cortical inhibition. In contrast, in healthy controls and patients without slowing, stronger cortical inhibition was linked to lower resting-state functional connectivity between the left primary motor cortex and premotor or parietal cortices. Psychomotor slowing in psychosis is linked to less cortical inhibition and aberrant functional connectivity of the primary motor cortex. Higher neural noise in the motor system may drive psychomotor slowing and thus may become a treatment target.


Asunto(s)
Trastornos Psicóticos , Esquizofrenia , Humanos , Estudios Transversales , Lóbulo Parietal , Estimulación Magnética Transcraneal/métodos , Potenciales Evocados Motores/fisiología , Inhibición Neural/fisiología
2.
Am J Med Genet C Semin Med Genet ; : e32101, 2024 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-39056510

RESUMEN

Variants in SCN2A are a known risk factor for developing autism spectrum disorder (ASD). Catatonia is a complex neuropsychiatric syndrome, which occurs at a higher rate in individuals with ASD. Catatonia has also been associated with COVID-19 infection, though the majority of these cases are associated with increased serum inflammatory markers. We present a case of a 15-year-old female with ASD and corticosteroid responsive stuporous catatonia to explore the relationship between SCN2A variants, ASD, COVID-19 exposure, and treatment refractory catatonia. Despite a lack of significantly elevated serum or CSF inflammatory markers, this patient showed significant improvement following initiation of corticosteroid therapy. This case presents a novel approach to the work-up and treatment of catatonia in individuals with SCN2A variants independent of elevated inflammatory markers.

3.
Mov Disord ; 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38924566

RESUMEN

The term "catatonia" was introduced by German psychiatrist Karl Kahlbaum in 1874. Although historically tied to schizophrenia, catatonia exhibits a diverse range of phenotypes and has been observed in various medical and neuropsychiatric conditions. Its intrinsic movement characteristics and association with hypokinetic and hyperkinetic phenomenologies place catatonia within the purview of movement disorders. Despite the presence of catatonia in psychiatry literature for over 150 years, many gaps and controversies persist regarding its etiopathogenesis, phenomenology, diagnostic criteria, and treatment. The current versions of the International Classification of Diseases (ICD-11) and the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) require clinicians to identify any three signs of 15 (ICD-11) or 12 (DSM-5) for the diagnosis of catatonia. Catalepsy and waxy flexibility are the only motor features with high specificity for the diagnosis. We highlight the gaps and controversies in catatonia as a movement disorder, emphasize the lack of a clear definition, and discuss the inconsistencies in the description of various catatonic signs. We propose the exploration of a bi-axial classification framework similar to that used for dystonia and tremor to encourage the evaluation of underlying etiologies and to guide therapeutic decisions to improve the outcome of these patients. © 2024 International Parkinson and Movement Disorder Society.

4.
Bipolar Disord ; 26(4): 331-334, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38320751

RESUMEN

BACKGROUND: Bell's mania was first described in 1849, and other terms have been used to describe this condition, including delirious mania, mania with delirium, and excited delirium. However, no international diagnostic manual has included mania as an independent diagnostic tool. The criteria for delirious mania were proposed by Bond et al. METHODS: We present a case of a man without a personal or family psychiatric history who experienced his first manic episode of delirium and psychosis at 76 years old. CONCLUSIONS: The case described in this study is compatible with mood disorders, the original description of Bell's mania, and Bond's definition of delirious mania. Although rare, extremely late-onset primary mania can occur without personal or family psychiatric history. The initial clinical presentation of delirium requires a thorough medical investigation, including magnetic resonance imaging (MRI) and lumbar puncture with neuronal antibodies. The addition of delirious mania to the group of bipolar disorders in future editions of The International Classification of Diseases (ICD) and Diagnostic and Statistical Manual of Mental Disorders (DSM) has therapeutic and prognostic implications. The Bond criteria can provide valuable information in this respect. Further investigations are necessary to clarify the pathophysiology and epidemiology of delirious mania.


Asunto(s)
Delirio , Manía , Humanos , Masculino , Manía/diagnóstico , Delirio/diagnóstico , Anciano , Trastorno Bipolar/diagnóstico
5.
Artículo en Inglés | MEDLINE | ID: mdl-39179430

RESUMEN

BACKGROUND: Catatonia is a neuropsychiatric syndrome characterized by motor, behavioral, and autonomic abnormalities. It is often underdiagnosed in geriatric patients with dementia despite established diagnostic criteria and treatment options. OBJECTIVE: This systematic review investigates catatonia in the elderly, particularly those with dementia, to examine their clinical presentation, treatment response, and prognosis compared to elderly patients without dementia. METHODS: We comprehensively searched MEDLINE and EMBASE, including case reports and series on catatonia in elderly patients. Reviewers independently performed data extraction and quality assessments. Statistical significance was set at a p value ≤0.05, and a multivariate logistic regression model was used to analyze differences between patients with and without dementia. RESULTS: Our review included 182 articles with 225 cases. We found no significant differences in the clinical presentation of catatonia between patients with and without dementia, with both groups commonly exhibiting the hypokinetic variant. However, patients with dementia were more frequently treated with NMDA receptor antagonists (OR: 3.27; CI: 1.05-10.11; p = 0.040) and had a lower complete response rate to treatment (OR: 0.37; CI: 0.19-0.75; p = 0.006). Patients with dementia also exhibited fewer acute medical conditions (OR: 0.17; CI: 0.05-0.65; p = 0.009). CONCLUSIONS: Catatonia in dementia does not have a different syndromic presentation. However, the diagnosis of dementia leads to varying preferences regarding the choice of symptomatic therapy and seems to be a predictor of a poorer therapeutic response. Actively treating catatonia, particularly in patients with dementia, addressing the characteristics of these patients is of paramount importance.

6.
Acta Psychiatr Scand ; 150(4): 234-244, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39118275

RESUMEN

OBJECTIVE: Catatonia is a neuropsychiatric disorder that can occur in patients of any age, but it is uncertain whether patient demographics or underlying diagnoses differ between pediatric and adult patients. This study investigates patients of all ages diagnosed with catatonia during acute care hospitalizations in the United States over a 5-year period. METHOD: The National Inpatient Sample, an all-payors database of acute care hospital discharges, was queried for patients with a discharge diagnosis of catatonia between 2016 and 2020 with patients stratified by age as pediatric (≤18 years) or adult (>18 years). RESULTS: Among 174,776,205 hospitalizations recorded in the NIS from 2016 to 2020, 61,990 (95% CI: 60,257 to 63,723; 0.035%) involved a diagnosis of catatonia. Of these, 3255 were for pediatric patients and 58,735 were for adult patients. Compared with adult patients, pediatric catatonia patients were more likely to be male and non-White. Diagnostically, psychotic disorders, encephalitis, and neurodevelopmental disorders were more common primary discharge diagnoses in pediatric patients, while adult patients more frequently were diagnosed with mood disorders. Length of stay was not significantly different between pediatric and adult catatonia hospitalizations. Physical restraints were commonly applied for patients with catatonia. CONCLUSION: Pediatric and adult catatonia patients differed in sex, race, and diagnosis, although hospital length of stay was not different between pediatric and adult catatonia hospitalizations. These results may inform catatonia diagnosis in the hospital setting and point to disparities that could be targets of quality improvement efforts.


Asunto(s)
Catatonia , Hospitalización , Humanos , Catatonia/epidemiología , Catatonia/diagnóstico , Masculino , Femenino , Estados Unidos/epidemiología , Adulto , Niño , Adolescente , Hospitalización/estadística & datos numéricos , Adulto Joven , Persona de Mediana Edad , Preescolar , Anciano , Pacientes Internos/estadística & datos numéricos , Factores de Edad , Trastornos Psicóticos/epidemiología , Trastornos Psicóticos/diagnóstico , Lactante , Tiempo de Internación/estadística & datos numéricos , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/diagnóstico
7.
J Neuropsychiatry Clin Neurosci ; : appineuropsych20230174, 2024 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-38720623

RESUMEN

OBJECTIVE: Generalized periodic discharges are a repeated and generalized electroencephalography (EEG) pattern that can be seen in the context of altered mental status. This article describes a series of five individuals with generalized periodic discharges who demonstrated signs and symptoms of catatonia, a treatable neuropsychiatric condition. METHODS: Inpatients with a clinical diagnosis of catatonia, determined with the Bush-Francis Catatonia Rating Scale (BFCRS), and EEG recordings with generalized periodic discharges were analyzed in a retrospective case series. RESULTS: Five patients with catatonia and generalized periodic discharges on EEG were evaluated from among 106 patients with catatonia and contemporaneous EEG measurements. Four of these patients showed an improvement in catatonia severity when treated with benzodiazepines, with an average reduction of 6.75 points on the BFCRS. CONCLUSIONS: Among patients with generalized periodic discharges, catatonia should be considered, in the appropriate clinical context. Patients with generalized periodic discharges and catatonia may benefit from treatment with empiric trials of benzodiazepines.

8.
Epilepsy Behav ; 159: 109983, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39182262

RESUMEN

Catatonia is currently conceived in the major diagnostic manuals as a syndrome with a range of possible psychiatric and general medical underlying conditions. It features diverse clinical signs, spanning motor, verbal and behavioural domains and including stupor, catalepsy, mutism, echolalia, negativism and withdrawal. The existing literature suggests that seizure activity may underlie catatonia in approximately 2% of cases. There are three possible temporal relationships between catatonia and seizure activity: (1) ictal catatonia, in which catatonia is a presentation of non-convulsive status epilepticus; (2) postictal catatonia, in which catatonia follows a seizure, and (3) interictal catatonia, in which catatonia and seizures occur in the same individual without any clear temporal relationship between them. Electroencephalographic (EEG) abnormalities are common in catatonia, even in those cases with a presumed primary psychiatric origin, and often consist of generalised background slowing. Paradoxically, electroconvulsive therapy is an effective treatment for catatonia. There are several converging pieces of evidence suggesting that there may be underlying seizure activity in more cases of catatonia than has hitherto been recognised, though identification of these seizures may require intracranial EEG recording.


Asunto(s)
Catatonia , Electroencefalografía , Epilepsia , Catatonia/terapia , Catatonia/diagnóstico , Catatonia/etiología , Catatonia/fisiopatología , Catatonia/complicaciones , Humanos , Epilepsia/complicaciones , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Epilepsia/terapia , Terapia Electroconvulsiva
9.
CNS Spectr ; 29(2): 87-95, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38282559

RESUMEN

Data related to psychiatric manifestations in subacute sclerosing panencephalitis (SSPE) is currently available only in the form of isolated case reports. In this systematic review, we evaluated the spectrum of psychiatric manifestations and their impact on the course and outcome of SSPE. Data were obtained from 4 databases (PubMed, Embase, Scopus, and Google Scholar), with the most recent search conducted on March 27, 2023. The PRISMA guidelines were followed, and the PROSPERO registration number for the protocol is CRD42023408227. SSPE was diagnosed using Dyken's criteria. Extracted data were recorded in an Excel spreadsheet. To evaluate the quality of the data, the Joanna Briggs Institute Critical Appraisal tool was employed. Our search resulted in 30 published reports of 32 patients. The mean age was 17.9 years. Schizophrenia, catatonia, and poorly characterized psychotic illnesses were the 3 most common psychiatric presentations that were seen in 63% (20/32) of cases. Catatonia was seen in 4 patients. Affective disorders, mania, and depression were reported among 22% (7/32) cases. In approximately 81% (26/32) cases, the course of SSPE was acute fulminant. Treatment with antipsychotic drugs had poor or no response. Out of 17 patients, who received antipsychotic drugs, 6 patients noted severe extrapyramidal adverse effects. SSPE often masquerades as a psychiatric disorder. Unresponsive psychiatric symptoms, early extrapyramidal signs, and progressive encephalopathy indicate SSPE.


Asunto(s)
Panencefalitis Esclerosante Subaguda , Panencefalitis Esclerosante Subaguda/complicaciones , Humanos , Catatonia/etiología , Catatonia/diagnóstico , Adolescente , Esquizofrenia
10.
Childs Nerv Syst ; 40(7): 2019-2032, 2024 07.
Artículo en Inglés | MEDLINE | ID: mdl-38630268

RESUMEN

OBJECTIVE: To ascertain the presence of catatonia in cases of pediatric postoperative cerebellar mutism syndrome (PPCMS). METHOD: A systematic review of PPCMS case reports of patients aged 0-17 years with sufficient clinical information to extract catatonic phenomena was undertaken following PRISMA guidelines. Standardized catatonia rating scales were applied to selected cases retrospectively to ascertain whether diagnostic criteria for catatonia were met. A case known to the authors is also presented. RESULTS: Two hundred twenty-one suitable full-text articles were identified. Following screening and application of inclusion criteria, 51 articles were selected plus seven more from their references, reporting on 119 subjects. All cases met Bush and Francis (BF) diagnostic criteria for catatonia, 92.5% Pediatric Catatonia Rating Scale (PCRS), 52.9% ICD-11, and 44.5% DSM-5. All patients presented with mutism. The next most frequent signs were immobility/stupor (77.3%), withdrawal (35.3%), mannerisms (23.5%), and excitement/agitation (18.5%). Most cases presented with stuporous catatonia (75.6%). Catatonia most frequently occurred following resection of medulloblastoma (64.7%). Preoperative hydrocephalus occurred in 89 patients (74.8%). CONCLUSION: Catatonia was frequent in this PPCMS sample, with a predominant stuporous variant; it should be considered in patients with PPCMS and assessed with reliable and validated instruments for prompt diagnosis and management.


Asunto(s)
Catatonia , Mutismo , Complicaciones Posoperatorias , Adolescente , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Catatonia/etiología , Catatonia/diagnóstico , Enfermedades Cerebelosas/complicaciones , Enfermedades Cerebelosas/cirugía , Enfermedades Cerebelosas/etiología , Mutismo/etiología , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/diagnóstico
11.
Artículo en Inglés | MEDLINE | ID: mdl-39031186

RESUMEN

Pathogenic variants in the IRF2BPL gene are associated with neurodevelopmental disorders with varying degrees of regression, loss of speech and epilepsy. The phenotype is also known as Neurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures (NEDAMSS). The motor symptoms of this disorder share significant phenotypical characteristics with catatonia, a severe neuropsychiatric psychomotor syndrome. The objective of this article is to expand the knowledge on the presentation of NEDAMSS with a focus on psychiatric symptoms including catatonia. A systematic review of 32 case presentations of NEDAMSS, and a novel case report of a patient with NEDAMSS, exhibiting multiple psychiatric symptoms, including catatonia are presented. Psychiatric symptoms and disorders including affective disorders, psychotic symptoms, catatonia, and developmental disorders are reported in one third of the reviewed cases. Reported effects of pharmacological treatment on motor symptoms of NEDAMSS are very limited. Our case presents improvement in motor symptoms originally attributed to NEDAMSS, after treatment with Lorazepam following diagnosis with catatonia. Patients with NEDAMSS may present with both neurological and psychiatric symptoms. The clinical presentation of NEDAMSS motor symptoms and catatonia have similarities and thus poses significant challenges to the diagnostic process, with risk of incorrect or delayed treatment. The limited experience and the complex phenotype of NEDAMSS complicates pharmacological treatment and encourages caution, especially with the use of antipsychotic drugs in the presence of possible catatonic symptoms.

12.
Nervenarzt ; 95(1): 10-17, 2024 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-38092982

RESUMEN

Patients with catatonia often show serious motor, affective and behavioral symptoms, behind which the subjective experience often remains hidden. Therefore, this study disseminates our own systematic empirical investigation of the subjective experience of catatonia patients to a German-speaking audience of clinicians and researchers. Based on current evidence and the clinical experience of the authors, the self-report questionnaire Northoff Scale for Subjective Experience in Catatonia (NSSC) was modified, extended and validated and now consists of 26 items capturing the subjective experience of catatonia in its clinical diversity. A total of 46 patients with catatonia according to the International Classification of Diseases (11th revision, ICD-11) were asked about their subjective experience during the acute phase of the disease using the NSSC. The NSSC showed high internal consistency (Cronbach's alpha = 0.91). The NSSC total score was significantly associated with the Northoff Catatonia Rating Scale (NCRS; r = 0.46; p < 0.05), the total score of the Positive and Negative Syndrome Scale (PANSS; r = 0.30; p < 0.05), the Brief Psychiatric Rating Scale (BPRS; r = 0.33; p < 0.05), and Trait Anxiety (STAI; r = 0.64; p < 0.01), supporting its validity. Preliminary validation of the NSSC revealed good psychometric properties. The NSSC is a useful instrument for routine clinical use to assess the subjective experience of patients with catatonia in order to provide tailored psychotherapeutic interventions.


Asunto(s)
Catatonia , Humanos , Catatonia/psicología , Trastornos de Ansiedad , Ansiedad , Encuestas y Cuestionarios , Psicometría , Reproducibilidad de los Resultados
13.
Nervenarzt ; 2024 Aug 21.
Artículo en Alemán | MEDLINE | ID: mdl-39240313

RESUMEN

Electroconvulsive therapy (ECT) is a highly effective treatment option for severe mental illness. Although people with intellectual disability (ID) have similar prevalence rates of mental disorders in comparison to the general population their access to ECT remains challenging. A systematic literature review was carried out on treatment with ECT in patients with ID and a case report on a patient with ID who underwent ECT is presented, to highlight a typical clinical routine. A total of 100 articles with 208 different case reports were retrieved. In summary, the results underline the effectiveness of ECT in people with ID, with side effects comparable to those in the general population. The ECT is effective in the treatment of severe affective and psychotic disorders and particularly in people with catatonia. The use of ECT can improve the patient's mental health and quality of life and is often a life-saving treatment option. The prophylaxis of relapses should be included as early as possible in the planning process. Providing an easy access to ECT treatment for people with ID is corroborated by its effectiveness and is in line with the right to equal treatment in accordance with article 25 of the United Nations Convention on the Rights of Persons with Disabilities.

14.
Psychol Med ; 53(6): 2492-2502, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-35135642

RESUMEN

BACKGROUND: Catatonia, a severe neuropsychiatric syndrome, has few studies of sufficient scale to clarify its epidemiology or pathophysiology. We aimed to characterise demographic associations, peripheral inflammatory markers and outcome of catatonia. METHODS: Electronic healthcare records were searched for validated clinical diagnoses of catatonia. In a case-control study, demographics and inflammatory markers were compared in psychiatric inpatients with and without catatonia. In a cohort study, the two groups were compared in terms of their duration of admission and mortality. RESULTS: We identified 1456 patients with catatonia (of whom 25.1% had two or more episodes) and 24 956 psychiatric inpatients without catatonia. Incidence was 10.6 episodes of catatonia per 100 000 person-years. Patients with and without catatonia were similar in sex, younger and more likely to be of Black ethnicity. Serum iron was reduced in patients with catatonia [11.6 v. 14.2 µmol/L, odds ratio (OR) 0.65 (95% confidence interval (CI) 0.45-0.95), p = 0.03] and creatine kinase was raised [2545 v. 459 IU/L, OR 1.53 (95% CI 1.29-1.81), p < 0.001], but there was no difference in C-reactive protein or white cell count. N-Methyl-d-aspartate receptor antibodies were significantly associated with catatonia, but there were small numbers of positive results. Duration of hospitalisation was greater in the catatonia group (median: 43 v. 25 days), but there was no difference in mortality after adjustment. CONCLUSIONS: In the largest clinical study of catatonia, we found catatonia occurred in approximately 1 per 10 000 person-years. Evidence for a proinflammatory state was mixed. Catatonia was associated with prolonged inpatient admission but not with increased mortality.


Asunto(s)
Catatonia , Humanos , Catatonia/epidemiología , Catatonia/etiología , Estudios de Cohortes , Estudios de Casos y Controles , Autoanticuerpos , Demografía
15.
Psychol Med ; 53(9): 4266-4274, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-35534479

RESUMEN

BACKGROUND: Patients with anti-N-methyl-d-aspartate (NMDA) receptor encephalitis (ANMDARE) show a wide range of behavioral abnormalities and are often mistaken for primary psychiatric presentations. We aimed to determine the behavioral hallmarks of ANMDARE with the use of systematic neuropsychiatric and cognitive assessments. METHODS: A prospective study was conducted, with 160 patients admitted to the National Institute of Neurology and Neurosurgery of Mexico, who fulfilled criteria for possible autoimmune encephalitis and/or red flags along a time window of seven years. Cerebrospinal fluid (CSF) antibodies against the NR1 subunit of the NMDAR were processed with rat brain immunohistochemistry and cell-based assays with NMDA expressing cells. Systematic cognitive, neuropsychiatric, and functional assessments were conducted before knowing NMDAR antibodies results. A multivariate analysis was used to compare patients with and without definite ANMDARE according to antibodies in CSF. RESULTS: After obtaining the CSF antibodies results in 160 consecutive cases, 100 patients were positive and classified as having definite ANMDARE. The most frequent neuropsychiatric patterns were psychosis (81%), delirium (75%), catatonia (69%), anxiety-depression (65%), and mania (27%). Cognition was significantly impaired. A total of 34% of the patients had a predominantly neuropsychiatric presentation without seizures. After multivariate analysis, the clinical hallmarks of ANMDARE consisted of a catatonia-delirium comorbidity, tonic-clonic seizures, and orolingual dyskinesia. CONCLUSIONS: Our study supports the notion of a neurobehavioral phenotype of ANMDARE characterized by a fluctuating course with psychotic and affective symptoms, catatonic signs, and global cognitive dysfunction, often accompanied by seizures and dyskinesia. The catatonia-delirium comorbidity could be a distinctive neurobehavioral phenotype of ANMDARE.


Asunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato , Catatonia , Delirio , Discinesias , Humanos , Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico , Encefalitis Antirreceptor N-Metil-D-Aspartato/líquido cefalorraquídeo , Catatonia/etiología , Estudios Prospectivos , N-Metilaspartato , Receptores de N-Metil-D-Aspartato , Convulsiones/complicaciones , Delirio/complicaciones , Discinesias/complicaciones
16.
Am J Med Genet A ; 191(11): 2716-2722, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37642312

RESUMEN

Catatonia occurs at high rates in idiopathic and syndromic neurodevelopmental disorders. At our institution's multidisciplinary catatonia clinic, clinical genetic testing (including microarray, fragile X PCR and methylation, autism/ID expanded panels, and exome sequencing) was commonly completed as part of clinical workup on patients with co-occurring neurodevelopmental disorders and catatonia (performed in 36/48 cases or 75%). This testing identified a pathogenic or likely pathogenic finding in 15/36 patients (42%). Testing identified a VUS (variant of uncertain significance) in 9/36 patients (25%). On review of the VUS findings, 4/9 were felt to be suspicious and potentially diagnostic. Testing was negative for 12/36 patients (33%). Many of the variants identified in this cohort were found in genes involved in gamma aminobutyric acid (GABA) and glutamatergic synaptic signaling; imbalances of these neurotransmitters are hypothesized to be drivers of catatonia. More work is needed to further characterize the molecular underpinnings of catatonia in the setting of neurodevelopmental disorders, including expanding genetic testing to larger cohorts in the future.

17.
Am J Med Genet A ; 191(7): 1769-1782, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37017126

RESUMEN

Down syndrome regression disorder (DSRD) is a clinical symptom cluster of acute or subacute neurocognitive regression in otherwise health persons with Down syndrome. The objective of this study was to evaluate if adverse childhood experiences (ACEs) were more prevalent in children with DSRD than those with DS alone. A survey-based, cohort-based study was performed. Caregivers of individuals with DSRD with onset of symptoms between age 10 and 30 years and DS alone were administered the ACEs questionnaire via an online REDCap survey. A total of 159 responses were collected after excluding incomplete surveys and those not meeting criteria for DSRD. Individuals with DSRD were not more likely to experience ACEs (p = 0.18, 95% confidence interval [CI]: 0.43-1.17). In those with ACEs prior to the onset of symptoms, the median time prior was 7 months (interquartile range: 5-10). Individuals with DSRD were more likely to report three or more ACEs (52, 33%) compared to those with DS alone (39, 22%) (p = 0.02, 95% CI: 1.08-2.87). Exposure to ACEs were not predictive of response to particular therapeutic interventions although those with multiple ACEs 3 months prior to the onset of symptoms was associated with lower response rates to benzodiazepines and immunotherapy (p = 0.02, 95% CI: -3.64--1.13). This study provides preliminary data that individuals with DSRD experience ACEs at a similar rate to individuals with only DS alone, although three or more ACEs, often preceding the onset of symptoms, was more prevalent in individuals with DSRD.


Asunto(s)
Experiencias Adversas de la Infancia , Síndrome de Down , Niño , Humanos , Adolescente , Adulto Joven , Adulto , Síndrome de Down/complicaciones , Síndrome de Down/epidemiología , Estudios de Cohortes , Encuestas y Cuestionarios
18.
Am J Geriatr Psychiatry ; 31(12): 1200-1205, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37328402

RESUMEN

OBJECTIVES: The authors describe five depressive patients with initially decreased striatal accumulation of dopamine transporter (DAT) single-photon emission computed tomography (SPECT), which improved in parallel with clinical symptoms. METHODS: Patients who exhibited decreased striatal accumulation and recovery of DATSPECT were identified among patients with the symptoms of depression. Their clinical and neuroimaging data were reviewed. RESULTS: Five patients were identified. All patients were presenile or senile women who presented with catatonia subsequent to symptoms of depression that remitted with treatment. DAT-SPECT showed a decreased striatal accumulation in all patients, which increased after treatment. Two patients had met the diagnostic criteria of probable dementia with Lewy bodies (DLB), but no longer did so after their symptoms improved. CONCLUSIONS: Reversible DAT dysfunction observed in this study suggests that reversible impairment of dopaminergic transmission in the striatum partly underlies catatonia. Careful consideration should be given to diagnosing DLB in patients with decreased DAT-SPECT accumulation, especially when catatonia is present.


Asunto(s)
Catatonia , Enfermedad por Cuerpos de Lewy , Humanos , Femenino , Enfermedad por Cuerpos de Lewy/complicaciones , Enfermedad por Cuerpos de Lewy/diagnóstico por imagen , Depresión/complicaciones , Depresión/diagnóstico por imagen , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática , Catatonia/diagnóstico por imagen , Catatonia/etiología , Envejecimiento
19.
J Intensive Care Med ; 38(2): 137-150, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35861966

RESUMEN

Catatonia is a clinical syndrome characterized by psychomotor, neurological and behavioral changes. The clinical picture of catatonia ranges from akinetic stupor to severe motoric excitement. Catatonia can occur in the setting of a primary psychiatric condition such as bipolar disorder or secondary to a general medical illness like autoimmune encephalitis. Importantly, it can co-occur with delirium or coma. Malignant catatonia describes catatonia that presents with clinically significant autonomic abnormalities including change in temperature, blood pressure, heart rate, and respiratory rate. It is a life-threatening form of acute brain dysfunction that has several motoric manifestations and occurs secondary to a primary psychiatric condition or a medical cause. Many of the established predisposing and precipitating factors for catatonia such as exposure to neuroleptic medications or withdrawal states are common in the setting of critical illness. Catatonia typically improves with benzodiazepines and treatment of its underlying psychiatric or medical conditions, with electroconvulsive therapy reserved for catatonia refractory to benzodiazepines or for malignant catatonia. However, some forms of catatonia, such as catatonia secondary to a general medical condition or catatonia comorbid with delirium, may be less responsive to traditional treatments. Prompt recognition and treatment of catatonia are crucial because malignant catatonia may be fatal without treatment. Given the high morbidity and mortality associated with malignant catatonia, intensivists should familiarize themselves with this important and under-recognized condition.


Asunto(s)
Catatonia , Humanos , Catatonia/diagnóstico , Catatonia/etiología , Catatonia/terapia
20.
CNS Spectr ; 28(5): 587-591, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36440510

RESUMEN

Catatonia is a neuropsychiatric condition that causes disruption of movement, emotion, and behaviors. Children and adults with underlying psychiatric conditions are particularly susceptible to developing catatonia, which may result in medical and psychiatric complications. Although catatonia research has been growing at a rapid rate in the last 20 years, it continues to be met with inefficiencies in its diagnosis and incertitude in its treatment. In the pediatric population, catatonia is plagued by diagnostic overshadowing, where the catatonia is erroneously attributed to existing pathologies that lead to a prolonged disease state. This paper describes three pediatric patients with catatonia that fell victim to diagnostic overshadowing. More rigorous training and education are imperative to improve the efficient recognition and treatment of children with catatonia.

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