[Neuroleptic Intolerance and Residual Mutism in a Young Woman with Anti-N-Methyl-D-Aspartate Receptor (NMDAR) Encephalitis].

We report a case of anti-NMDAR encephalitis and residual mutism in a 23-year-old woman who presented with neuroleptic intolerance. Admission to our department for investigation of her abnormal behavior revealed cerebrospinal fluid (CSF) positivity for anti-NMDAR antibodies, and the patient underwent immunotherapy. However, generalized tonic seizures developed, requiring mechanical ventilation in the intensive care unit. Antipsychotic drugs were also administered for involuntary movements and insomnia. Thereafter, a malignant syndrome of severe hyperCKemia (Max: 191,120 IU/L) and shock developed, requiring resuscitation and three sessions of hemodialysis. Subsequent rituximab therapy led to improvement, except for mutism, which had newly developed during resuscitation. Seven months after initial admission, the patient was discharged with independent gait. However, her mutism still persists. Temporary mutism has been reported to occur in this type of encephalitis, albeit rarely. The fact that remission was not observed in this case may have been due to cerebellar infarction occurring during resuscitation, but the true cause remains unclear. Malignant syndrome or rhabdomyolysis, as seen in this patient, has also sometimes been reported in this form of encephalitis when antipsychotic agents, especially dopamine receptor blockers, have been administered. Therefore, such agents should be administered with caution in patients with anti-NMDAR encephalitis. (Received August 17, 2023; Accepted October 24, 2023; Published March 1, 2024).

Psychometric propierties of the Selective Mutism Questionnaire in Spanish children / Propiedades psicométricas del Selective Mutism Questionnaire en niños españoles

Background/Objective: Research on selective mutism (SM) has been limited by the absence of standardised, psychometrically sound and cross-culturally valid assessment measures. Our aim is to present the results of a study of the factor structure and the reliability and concurrent validity of the scores of the Selective Mutism Questionnaire (SMQ), translated and adapted into Spanish. The SMQ contains 17 items about children's difficulty in speaking adequately in the family, school and social environment (out-of-school and out-of-family), each of which is answered according to a Likert scale with four response alternatives on speech frequency. Method: The study involved 110 pairs of parents of children diagnosed with SM whose ages ranged from 3 to 10 years. Results: The results show that the data from the Spanish sample fit the factorial model obtained by Bergman et al., and that data on its reliability and validity are robust and confirm that it as a good instrument for assessing SM in Spanish-speaking children. Conclusions: Therefore, we can affirm that the SMQ is a good instrument to assess SM in Spanish-speaking children. (AU)

Antecedentes/Objetivo: La investigación sobre el mutismo selectivo (MS) se ha visto limitada por la ausencia de medidas de evaluación estandarizadas, psicométricamente sólidas y con validez transcultural. Nuestro objetivo es presentar los resultados de un estudio de la estructura factorial, fiabilidad y validez concurrente de las puntaciones del Selective Mutism Questionnaire (SMQ), traducido y adaptado al español. El SMQ contiene 17 ítems sobre la dificultad de los niños para hablar adecuadamente en el ámbito familiar, escolar y social (extraescolar y ajeno al ámbito familiar), cada uno de los cuales se contesta según una escala tipo Likert con cuatro alternativas de respuesta sobre la frecuencia del habla. Método: En el estudio participaron 110 parejas de padres de niños y niñas diagnosticados con MS. Resultados: Los resultados muestran que los datos de la muestra española se ajustan al modelo factorial obtenido por Bergman et al., así como que los datos sobre su fiabilidad y la validez son robustos. Conclusiones: Por todo ello podemos afirmar que el SMQ es un buen instrumento para valorar el MS en niños y niñas españoles de habla castellana. (AU)

The medical therapy for cerebellar mutism syndrome: a case report and literature review.

PURPOSE: Cerebellar mutism syndrome (CMS) represents a major complication affecting many children that undergo surgery for posterior fossa lesions. Etiology and pathophysiology are still not fully understood. CMS deeply influences quality of life and recovery of these patients. An effective treatment has not been defined yet. This case-based review aims at analyzing the available evidence and knowledge to better delineate this phenomenon and to determine whether CMS can be successfully treated with pharmacological therapy. METHODS: Systematic research and retrieval of databases were conducted analyzing all papers where medical treatment of CMS was reported. A summary of the latest understanding and reports regarding definition, clinical manifestations, pathophysiology, management, and outcome of CMS has been conducted. RESULTS: Consensus on definition of this syndrome is lacking. CMS is the term accepted by the Posterior Fossa Society in 2016. Pathophysiology is still poorly understood but the most likely mechanism is injury along proximal components of the efferent cerebellar pathway. Nine papers describing positive effects of pharmacological therapy for CMS have been identified. Fluoxetine, zolpidem, bromocriptine, and midazolam are the drugs that seem to alleviate symptoms of CMS and improve recovery. To date, cognitive rehabilitation and physiotherapy are the only treatment options available. CONCLUSION: CMS has deep impact on affected children and their families. Despite attempts to identify preventive measures and treatment, cases still occur on a regular basis. Pharmacological treatments have been proposed to help reduce the symptoms of CMS with some promising results, but reports are limited; therefore, further studies are needed.

Bromocriptine for the treatment of postoperative cerebellar mutism syndrome in pediatric patients: Three case reports.

INTRODUCTION: Cerebellar mutism syndrome (CMS) is a common complication after posterior fossa tumor resection. It is characterized by a significant lack or loss of speech. Its biological origin remains unclear and there are no standardized treatments. However, bromocriptine seems to be a possible treatment for this condition. CASE REPORT: In this paper, we present three cases of pediatric patients (4, 5, and 17-year old) who developed CMS after posterior fossa tumor surgery. They were treated with bromocriptine to improve neurological symptoms.Management and outcome: Bromocriptine was started at a low dose and was progressively increased to reach the minimum effective dose. After four months of treatment, a normal and fluid speech was observed in the three patients. No discontinuation due to adverse events were reported. DISCUSSION: Bromocriptine has shown to be an effective and safe treatment for CMS in pediatric patients after posterior fossa tumor resection.

¿Es sólo mutismo? A propósito de un caso / Is it only Mutism? Case-based Review

El mutismo selectivo fue descrito por primera vez hace más de 100 años. Forma parte de un grupo heterogéneo de alteraciones que tienen en común la presencia de anomalías del comportamiento social que comienzan durante el período de desarrollo. En la última edición del DSM-5 ha sido clasificado en la categoría de Trastornos de ansiedad. Presentamos un caso clínico de una paciente que fue derivada a nuestra consulta de Unidad de Salud Mental Infanto-Juvenil por incapacidad para hablar en los contextos escolar y social a pesar de hablar con aparente normalidad con los familiares más cercanos, acompañado de fracaso escolar. Repasamos brevemente algunas de las características generales del trastorno: factores de riesgo, el diagnóstico según los sistemas de clasificación actuales más importantes y las estrategias para el abordaje. Posteriormente exponemos el caso clínico con el desarrollo de las sucesivas entrevistas clínicas, el análisis de la información aportada por la madre adoptiva, la exploración del estado mental, el resumen de las exploraciones neuropsicológicas e informes escolares y una discusión final

Selective mutism was first described more than 100 years ago. It belongs to an heterogeneous group of conditions that share in common the presence of anomalies in social behavior starting during the developmental period. In DSM-5, it has been classified in the category of Anxiety Disorders. We present a clinical case of a patient that was referred to our child and adolescent Mental Health Unit due to a lack of speech in school and social contexts in spite of speaking with apparent normality in the presence of closest relatives, also accompanied by school failure. We present some of the general characteristics of the disorder: risk factors, diagnostic features according to the most important current classification systems and treatment strategies. We also describe the case, including clinical interviews, analysis of the information shared by the adoptive mother, exploration of the mental state, summary of neuropsychological explorations and school reports, and provide a final discussion

Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation.

Phenotypic and biological characterization of rare monogenic disorders represents 1 of the most important avenues toward understanding the mechanisms of human disease. Among patients with SH3 and multiple ankyrin repeat domains 3 (SHANK3) mutations, a subset will manifest neurologic regression, psychosis, and mood disorders. However, which patients will be affected, when, and why are important unresolved questions. Authors of recent studies suggest neuronal SHANK3 expression is modulated by both inflammatory and hormonal stimuli. In this case series, we describe 4 independent clinical observations of an immunotherapy responsive phenotype of peripubertal-onset neuropsychiatric regression in 4 girls with pathogenic SHANK3 mutations. Each child exhibited a history of stable, mild-to-moderate lifelong developmental disability until 12 to 14 years of age, at which time each manifested a similar, subacute-onset neurobehavioral syndrome. Symptoms included mutism, hallucinations, insomnia, inconsolable crying, obsessive-compulsive behaviors, loss of self-care, and urinary retention and/or incontinence. Symptoms were relatively refractory to antipsychotic medication but improved after immunomodulatory treatment. All 4 patients exhibited chronic relapsing courses during a period of treatment and follow-up ranging from 3 to 6 years. Two of the 4 girls recovered their premorbid level of functioning. We briefly review the scientific literature to offer a conceptual and molecular framework for understanding these clinical observations. Future clinical and translational investigations in this realm may offer insights into mechanisms and therapies bridging immune function and human behavior.

Alemtuzumab significantly improves posterior fossa syndrome presented as a relapse of multiple sclerosis.

BACKGROUND: Posterior fossa syndrome (PFS) is a rare manifestation of ponto-mesencephalic lesions frequently reported in post-surgical pediatric tumors, rarely described as a consequence of vascular, infective or inflammatory lesions. OBJECTIVE: The aim of this article is to report the clinical and neuroradiological characteristics of a patient with an acute PFS presentation as a relapse in relapsing-remitting MS, significantly responsive to Alemtuzumab treatment. CASE REPORT: 24-year-old patient affected by multiple sclerosis developed motor-cognitive and behavioral syndrome related to an extensive ponto-mesencephalic lesion under Fingolimod treatment. CONCLUSION: Our case highlights the significant and rapid effect of Alemtuzumab therapy on both cognitive and motor symptoms occurring during a MS relapse with atypical neuroradiological localization.

Mutismo Selectivo / Selective Mutism

Se describe un caso clínico de un adolescente masculino de 12 años, con antecedentes de salud física aparente y sin trastorno mental previo, que se atendió en consulta de Psiquiatra Infanto-juvenil del Policlínico René Vallejo Ortíz por mutismo selectivo. Las pruebas psicometricas arrojan: coeficiente de inteligencia normal medio según Weill de inteligencia, Bender no organicidad; técnica proyectiva del árbol, la casa y la persona (HTP) proyectando ansiedad, poca socialización, timidez, impulsividad, agresividad; Inventario de problemas juveniles (IPJ) alteraciones de la esfera personal. Rotter conflictos en la esfera personal y social. Test de depresión anotación 27 para moderada depresión-Test de ansiedad marcada ansiedad. En el tratamiento se combinó terapias del comportamiento (incluyendo técnicas de desensibilización, extinción y refuerzo positivo), terapias cognitivo–conductual, terapia de juego, terapias familiares y uso de psicofármacos(AU)

We describe a clinical case of a 12-year-old male adolescent, with a history of apparent physical health and without previous mental disorder, who attended a consultation of the Child and Adolescent Psychiatrist of the Rene Vallejo Ortiz Polyclinic through selective mutism. The psychometric tests show: average intelligence coefficient according to Weill of intelligence, Bender non-organicity; projective technique of the tree, the house and the person (HTP) projecting anxiety, little socialization, shyness, impulsiveness, aggressiveness; Inventory of juvenile problems (IPJ) alterations of the personal sphere. Rotter conflicts in the personal and social sphere. Depression test annotation 27 for moderate depression-anxiety test marked anxiety. In the treatment, behavioral therapies were combined (including desensitization, extinction and positive reinforcement techniques), cognitive-behavioral therapies, play therapy, family therapies and the use of psychotropic drugs(EU)

Treatment of selective mutism based on cognitive behavioural therapy, psychopharmacology and combination therapy - a systematic review.

BACKGROUND: Selective mutism (SM) is a debilitating childhood anxiety disorder characterized by a persistent lack of speech in certain social settings and is considered hard to treat. Cognitive behavioral therapy (CBT) and pharmacological treatments are the best described treatments in the literature. AIM: To test whether there is evidence on treatment based on CBT, medication or a combination of these. METHODS: Systematic and critical review of the literature on CBT and/or pharmacological treatments of SM. Literature was sought on PubMed, Embase and Psycinfo in March 2017. RESULTS: Of the included studies, six examined CBT, seven pharmacologic treatment and two a combination of these. Using CBT 53/60 children improved symptomatically whilst respectively 55/67 and 6/7 improved using pharmacologic- and combination-treatment. CONCLUSION: Pharmacologic treatment and especially CBT showed promising results supported by some degree of evidence, which combination treatment lacks. Yet small numbers, few RCTs, heterogeneous study designs, lack of consistent measures, short treatment and follow-up periods, generally limits the evidence. This needs focus in future research.

An Examination of Fluoxetine for the Treatment of Selective Mutism Using a Nonconcurrent Multiple-Baseline Single-Case Design Across 5 Cases.

This study examined the utility of fluoxetine in the treatment of 5 children, aged 5 to 14 years, diagnosed with selective mutism who also demonstrated symptoms of social anxiety. A nonconcurrent, randomized, multiple-baseline, single-case design with a single-blind placebo-controlled procedure was used. Parents and the study psychiatrist completed multiple methods of assessment including Direct Behavior Ratings and questionnaires. Treatment outcomes were evaluated by calculating effect sizes for each participant as an individual and for the participants as a group. Information regarding adverse effects with an emphasis on behavioral disinhibition and ratings of parental acceptance of the intervention was gathered. All 5 children experienced improvement in social anxiety, responsive speech, and spontaneous speech with medium to large effect sizes; however, children still met criteria for selective mutism at the end of the study. Adverse events were minimal, with only 2 children experiencing brief occurrences of minor behavioral disinhibition. Parents found the treatment highly acceptable.

The Complex Diagnostic Challenge in Children With Non-Central Nervous System Cancer and Cerebellar Mutism.

Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneoplastic cerebellar degeneration; atypical posterior reversible encephalopathy syndrome; and acute disseminated encephalomyelitis may all cause mutism in such patients. This condition warrants prompt recognition and may require treatment with immunotherapy, as it may be an immune-mediated process. We present 2 patients with leukemia and viral illness who developed cerebellar mutism in the setting of acute cerebellitis and responded to immunotherapy, suggesting that the condition involved a parainfectious immune-mediated response.

Sudden benzodiazepine-induced resolution of post-operative pediatric cerebellar mutism syndrome: a clinical-SPECT study.

Post-operative pediatric cerebellar mutism syndrome (PPCMS) is a clinical syndrome arising from cerebellar injury and characterized by absence of speech and other possible symptoms and signs. Rare reports described some benefit after administration of dopamine agonist therapy, but no treatment has proven efficacy. In this paper, we report on the dramatic, sudden resolution of PPCMS induced by midazolam administration in a boy who underwent posterior fossa surgery for choroid plexus papilloma of the fourth ventricle. In addition to clinical improvement, post-midazolam single-photon emission computed tomography also demonstrated amelioration of brain perfusion.

Mutism Caused by Severe Demyelination in a Patient With Marchiafava-Bignami Disease.

BACKGROUND: Marchiafava-Bignami (MB) disease is a rare disorder that causes primary degeneration of the corpus callosum. It is associated with chronic alcohol consumption caused by either a toxic or nutritional etiology. CASE REPORT: We report a case of a 54-year-old woman who presented to our emergency department with complete mutism caused by MB disease that completely resolved with intravenous thiamine and dextrose therapy. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Emergency physicians frequently encounter patients with alcohol abuse and its complications. We report a rare presentation of a potential alcohol-related spectrum disease that may be encountered by an emergency physician. Early diagnosis and prompt management are critical to potentially reversing the disease, and this case shows the importance of including this disease in the differential diagnosis in patients with speech difficulty and alcohol abuse.

The use of medication in selective mutism: a systematic review.

Despite limited evidence, selective serotonin reuptake inhibitors (SSRIs) and monoamine oxidase inhibitors (MAOIs) are used to reduce symptoms of selective mutism (SM) in children unresponsive to psychosocial interventions. We review existing evidence for the efficacy of these medications, limitations of the literature, and resulting treatment considerations. Bibliographic searches were conducted in Medline, Embase, PsycInfo, Web of Science and Cochrane up to June 2015. Two reviewers independently sought studies of children with SM as primary psychiatric diagnosis, which reported response to medication treatment. Abstracts were limited to those reporting original data. Two reviewers independently assessed the ten papers reporting on >2 subjects regarding study design, key results, and limitations. Heterogeneity of designs mandated a descriptive summary. Symptomatic improvement was found for 66/79 children treated with SSRIs and 4/4 children treated with phenelzine. Only 3/10 studies had unmedicated comparison groups and only two were double-blinded. This review may be affected by publication bias, missed studies, and variability of outcome measures in included studies. Although there is some evidence for symptomatic improvement in SM with medication, especially SSRIs, it is limited by small numbers, lack of comparative trials, lack of consistent measures, and lack of consistent reporting on tolerability. The clinician must weigh this paucity of evidence against the highly debilitating nature of SM, and its adverse effects on the development of those children whose progress with psychosocial interventions is limited or very slow. Studies of optimal dosage and timing of medications in relation to psychosocial treatments are also needed.