[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).

Sociocultural variables have a major impact on participation in patients treated for paediatric posterior fossa tumours.

BACKGROUND: This study investigates the severeness of participation barriers in patients surviving paediatric posterior fossa tumours (PFT) many years after treatment. In the past, aetiological studies on adverse outcome have primarily focused on pathobiological risk factors. The current analysis aims to investigate the importance of environmental variables. METHODS: On average, 10 years after diagnosis, educational and social difficulties of 42 patients surviving paediatric PFT (mean age 17 years) were inquired using a self-constructed questionnaire following the Psychosocial Resource-Orientated Assessment (PREDI). Educational or social participation barriers were defined by self- and/or proxy-reported difficulties in school or in peer relationships. Accordingly, the children and adolescents were categorized into groups of adequate and limited participation. Subsequently, the study identified potential pathobiological (treatment type, hydrocephalus, tumour relapse, gender, age at diagnosis, seizures and cerebellar mutism) and environmental (parental and maternal education, siblings, main language, discrepancies between personal and environmental values, regular physical activity and private living space) risk factors and investigated whether patients with adequate and limited participation differed in the number of risk factors. RESULTS: Almost one decade after treatment, two thirds of patients experienced educational and/or social difficulties. Patients with limited participation were more frequently associated with environmental factors such as low maternal education degree, siblings, main language other than German, discrepancies between societal and personal values and irregular physical activity, as well as the pathobiological risk factors treatment type, hydrocephalus, tumour relapse, cerebellar mutism and seizures. These variables significantly discriminated between patients with and without limited participation. CONCLUSIONS: Limited participation in patients treated for paediatric PFT is common. Next to pathobiological, also environmental risk factors play a major role in educational and social participation barriers. This highlights the fact that solely considering pathobiology is not sufficient when investigating risk factors for the emergence of late sequelae. Future aetiological studies must adopt a biopsychosocial perspective.

Silence and related symptoms in children and adolescents: a network approach to selective mutism.

BACKGROUND: Silence in certain situations represents the core symptom of selective mutism (SM). However, it is unclear what additional symptoms are part of this disorder. Although knowledge of symptoms is essential for diagnostics and intervention, to date, only scarce research exists on circumscribed symptoms of SM. Given the large overlap between SM and social anxiety disorder (SAD), it remains also unclear which symptoms can differentiate both disorders. METHODS: A network analysis of potential symptoms of SM was performed based on a mixed sample of N = 899 children and adolescents with and without indication of SM (n = 629 with silence in certain situations). In a preliminary analysis, we demonstrated that children with and without silence in certain situations do not differ with respect to their network structure, justifying an analysis on the entire mixed sample. Possible communities (symptom clusters) within the network and thus potential latent variables were examined, and symptoms were analyzed in terms of their centrality (the extent to which they are associated with other symptoms in the network). To investigate the differentiability of symptoms of the SM network from symptoms of SAD, we computed a network that additionally contains symptoms of SAD. RESULTS: In the resulting network on symptoms of SM, silence was, as expected, the symptom with the highest centrality. We identified two communities (symptom cluster): (1) symptoms associated with the fear response of freezing, (2) symptoms associated with speech production and avoidance. SM network symptoms and SAD symptoms largely formed two separate symptom clusters, with only selectivity of speaking behavior (more talkative at home and taciturn or mute outside the home) falling into a common cluster with SAD symptoms. CONCLUSIONS: Silence appears to have been confirmed by analysis as a core symptom of SM. Additional anxiety-related symptoms, such as avoidance behavior or motor inhibition associated with freezing, seem to co-occur with silence. The two communities of SM potentially indicate different mechanisms of silence. The symptoms of SM appear to be distinguishable from those of SAD, although there seems to be overlap in terms of difficulty speaking in situations outside the home.

Power and connectivity changes on electroencephalogram in postoperative cerebellar mutism.

INTRODUCTION: Cerebellar mutism syndrome is a debilitating postoperative neurological complication following posterior fossa surgery in children. It is characterized by a significant lack or loss of speech. Injury to the dentato-thalamo-cortical pathway is thought to be the main anatomical substrate of cerebellar mutism syndrome; however, few studies have investigated the physiological changes using computed electroencephalogram. CASE REPORT: Herein, we report a case of a nine-year-old girl who developed cerebellar mutism syndrome after excision of an ependymoma of the fourth ventricle and was followed up with evaluation of aphasia, gross motor function, and scalp electroencephalograms. Her language, dysmetria and gait ataxia gradually improved until day 605 after onset. Computed electroencephalogram analyses were performed for the relative power spectrum and connectivity at each frequency band. On the three electroencephalograms at days 109, 299, and 605 after onset, the relative power spectrum at the delta band transiently decreased and then increased, and the relative power spectrums at theta, beta, and gamma bands transiently increased and then decreased. Only the relative power spectrum in the alpha band continuously increased in the occipital area. Additionally, brain connectivity in the delta, beta, and gamma bands increased continuously. CONCLUSION: We report a case of cerebellar mutism syndrome with recovery of language, dysmetria and gait ataxia in 20 months. Electroencephalogram analyses indicated transient changes in the powers of brain activity and continuous improvements in connectivity during the long follow-up, reflecting the plasticity and remodeling of brain function after cerebellar mutism syndrome. Power and connectivity analyses for EEG might be a tool to investigate underlying pathophysiology of cerebellar mutism syndrome.

Left-handedness should not be overrated as a risk factor for postoperative speech impairment in children after posterior fossa tumour surgery: a prospective European multicentre study.

PURPOSE: Cerebellar mutism syndrome (CMS) is a severe neurological complication of posterior fossa tumour surgery in children, and postoperative speech impairment (POSI) is the main component. Left-handedness was previously suggested as a strong risk factor for POSI. The aim of this study was to investigate the relationship between handedness and the risk of POSI. METHODS: We prospectively included children (aged < 18 years) undergoing surgery for posterior fossa tumours in 26 European centres. Handedness was assessed pre-operatively and postoperative speech status was categorised as either POSI (mutism or reduced speech) or habitual speech, based on the postoperative clinical assessment. Logistic regression was used in the risk factor analysis of POSI as a dichotomous outcome. RESULTS: Of the 500 children included, 37 (7%) were excluded from the present analysis due to enrolment at a reoperation; another 213 (43%) due to missing data about surgery (n = 37) and/or handedness (n = 146) and/or postoperative speech status (n = 53). Out of the remaining 250 (50%) patients, 20 (8%) were left-handed and 230 (92%) were right-handed. POSI was observed equally frequently regardless of handedness (5/20 [25%] in left-handed, 61/230 [27%] in right-handed, OR: 1.08 [95% CI: 0.40-3.44], p = 0.882), also when adjusted for tumour histology, location and age. CONCLUSION: We found no difference in the risk of POSI associated with handedness. Our data do not support the hypothesis that handedness should be of clinical relevance in the risk assessment of CMS.

Structural damage burden and hypertrophic olivary degeneration in pediatric postoperative cerebellar mutism syndrome.

Cerebellar mutism syndrome (CMS) occurs in one out of four children after posterior fossa tumor surgery, with open questions regarding risk factors, pathophysiology, and prevention strategies. Because of similarities between several cerebellar syndromes, a common pathophysiology with damage to the dentato-thalamo-cortical and dentato-rubro-olivary pathways has been proposed. Hypertrophic olivary degeneration (HOD) is an imaging correlate of cerebellar injury observed for instance in stroke patients. Aim of this study was to investigate whether the occurrence and severity of CMS correlates with the extent of damage to the relevant anatomical structures and whether HOD is a time-dependent postoperative neuroimaging correlate of CMS. We performed a retrospective single center study of CMS patients compared with matched non-CMS controls. CMS occurred in 10 children (13% of the overall cohort) with a median age of 8 years. Dentate nucleus (DN) injury significantly correlated with CMS, and superior cerebellar peduncle (SCP) injury was associated by tendency. HOD was observed as a dynamic neuroimaging phenomenon in the postoperative course and its presence significantly correlated with CMS and DN injury. Children who later developed HOD had an earlier onset and tended to have longer persistence of CMS. These findings can guide surgical measures to protect the DN and SCP during posterior fossa tumor resections and to avoid a high damage burden (i.e., bilateral damage). Development of intraoperative neuromonitoring of the cerebellar efferent pathways as well as improved preoperative risk stratification could help to establish a patient-specific strategy with optimal balance between degree of resection and functional integrity.

[First Psychotic Episode in a Patient with DiGeorge Syndrome and Selective Mutism]. / Primeiro Episódio Psicótico em Doente com Síndrome de DiGeorge e Mutismo Seletivo.

DiGeorge Syndrome is a group of diseases caused by a microdeletion, and some of its most frequent symptoms are those related with development and behavior. We present the case of a female patient with DiGeorge Syndrome and selective mutism since childhood, evaluated for the first time in a psychiatry consultation at the age of 18 for inaugural psychotic symptomatology. We describe the psychopathology, the diagnostic investigation, the treatment, and the clinical evolution. In the future, it will be important to better characterize patients with this syndrome who present psychiatric disease.

A síndrome de DiGeorge consiste num conjunto de doenças causadas por uma microdeleção, sendo alguns dos seus sintomas mais frequentes os ligados ao desenvolvimento e ao comportamento. Apresentamos o caso clínico de uma doente com síndrome de Di-George e história de mutismo seletivo desde a infância, avaliada pela primeira vez em consulta de psiquiatria aos 18 anos de idade por sintomatologia psicótica inaugural. Descrevemos a psicopatologia, o estudo realizado, o tratamento instituído e a evolução clínica. No futuro será importante uma melhor caraterização da abordagem dos doentes com esta síndrome que apresentam perturbação psiquiátrica.

Anxiety in Children with Selective Mutism: A Meta-analysis.

This study evaluates the current conceptualization of selective mutism (SM) as an anxiety disorder in the DSM-5 using a meta-analytic approach. In the absence of any systematic assessment of anxiety in the field of SM, we pooled prevalence data of comorbid anxiety disorders in a random-effects meta-analysis. On the basis of 22 eligible studies (N = 837), we found that 80% of the children with SM were diagnosed with an additional anxiety disorder, notably social phobia (69%). However, considerable heterogeneity was present, which remained unexplained by a priori specified moderators. The finding that SM is often diagnosed in combination with anxiety disorders, indicates that these disorders are not discrete, separable categories. Moreover, this finding does not help to elucidate the relation between SM and anxiety as an etiological mechanism or symptomatic feature. Broadening our research strategies regarding the assessment of anxiety is paramount to clarify the role of anxiety in SM, and allow for proper classification.

[Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl].

An 11-year-old girl was found to have pale complexion and anemia with gradual aggravation for one year. She was weak in the past and developed pneumonia in the right middle lung 3-5 times per year, which was improved after anti-infective therapy. She and her mother had congenital deaf-mutism. Physical examination showed the appearance of anemia, without bleeding, jaundice, hepatosplenomegaly, or lymph node enlargement. Routine blood test results showed reductions in all three blood cell lines, normocytic anemia, and megaloblastoid change in granulocytic and erythroid cell lines in bone marrow, with no obvious increase in primitive cells or metastatic tumor cells. Whole exome sequencing indicated the presence of a known pathogenic mutation for Emberger syndrome (ES), c.1084C>T (p.Arg362*) in the GATA2 gene. The girl was finally diagnosed with ES, and myelodysplastic syndrome (MDS) progressed to acute myeloid leukemia during follow-up. ES is a rare type of MDS with autosomal dominant inheritance in clinical practice, and it is difficult to make a confirmed diagnosis. ES should be considered for children with unexplained lymphedema and congenital deafness, and gene detection should be performed to make a confirmed diagnosis.

Examining a novel, parent child interaction therapy-informed, behavioral treatment of selective mutism.

BACKGROUND: The purpose of this study was to evaluate a new therapy for children with selective mutism (SM) that combines Parent-Child Interaction Therapy principles and behavioral techniques. METHOD: Children aged 4-10 with a primary diagnosis of SM were eligible to participate. Comorbidity was allowed with the exception of autism spectrum disorder, intellectual disability, mania or psychosis. Of 54 potentially eligible participants, 33 met inclusion/exclusion criteria of which 31 families consented (94%). Following assessment, children were waitlisted for an average of 4 months before receiving 16 sessions of weekly therapy at an outpatient psychiatry clinic of a children's hospital in Vancouver, Canada; all children completed treatment. Assessments were conducted at time of referral (baseline), pre-treatment, post-treatment, 3 month follow up, and 1 year follow up. Two did not complete follow up assessments (93% retention). RESULTS: Results showed significant and large (Cohen's d = 1.80) gains in speaking behaviors across contexts from pre- to post-treatment. Gains were maintained at 3-months and 1-year post-treatment. Statistically significant and large improvements were also found in post-treatment teacher and parent reports of child anxiety as well as a behavioral measure of the child speaking to an unknown adult. Parents reported high satisfaction with treatment. None of the potential predictors of treatment response examined were found to be significant. CONCLUSIONS: PCIT-SM appears to be an effective treatment for children aged 4-10 with SM.

The controversy around the diagnosis of selective mutism - a critical analysis of three cases in the light of modern research and diagnostic criteria. / Kontrowersje wokól diagnozy mutyzmu wybiórczego ­ krytyczna analiza trzech przypadków w swietle wspólczesnych badan oraz kryteriów diagnostycznych.

The position of selective mutism disorder - SM - has been modified in the last edition of the classification of mental disorders DSM-5. It was removed from "Disorders of childhood and adolescence" and placed in "Anxiety disorders". This caused two important changes in the interpretation of the symptoms of selective mutism. It highlighted anxious etiology of the disorder and also open the possibility to diagnose selective mutism in adults as a special category of anxiety disorders. The aim of this study was to present three different cases concerning the diagnostic difficulties of selective mutism (the child, the teenager and the persons who became adult during our observation) regarding current views on SM. In this study we presented the current view on the etiology, course and available therapies for selective mutism. Owing to updating the clinical knowledge about SM and describing three cases, we highlighted the controversies around the diagnosis and treatment of this disorder. Selective mutism might be a preliminary diagnosis, often leading to the diagnosis of other disorders of diverse etiology and course. Among the psychiatric aspects of the disorder, the 'anxiety component' of SM is crucial. In individuals with selective mutism, developmental disorders, social cognition and neurocognition deficits or dysfunctions of auditory processing often coexist. The severity and the type of comorbidities may determine the future course of the illness and the final effects of the therapy.

[Selective mutism]. / Selektiver Mutismus.

Selective mutism was first described in the medical literature 140 years ago. The diagnosis came into the focus of adult psychiatry with the appearance of DSM-5. Henceforth, selective mutism during infancy, adolescence and also adulthood is specified as an independent anxiety disorder. It often begins in early childhood with a kind of speechlessness in certain situations. A diagnostic clarification often only takes place after school enrolment. Very often comorbid anxiety disorders, especially social phobia and depression also occur. The course is very variable and with some affected persons regression of the pathology occurs suddenly and completely and with others there is a slow regression of the symptoms. Equally the disorder can persist until adulthood. Whilst formerly a traumatic genesis was assumed, a multifactorial etiology with genetic, psychological and language-associated effects is nowadays presumed. The therapy is supported through psychotherapy, speech therapy and psychopharmacology.

Mutismo cerebeloso / Cerebellar mutism

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Posterior fossa syndrome: Review of the behavioral and emotional aspects in pediatric cancer patients.

Medulloblastoma, the most common malignant brain tumor of childhood, occurs in the posterior fossa, the part of the intracranial cavity that contains the brainstem and the cerebellum. The cerebellum is involved in many complex aspects of human behavior and function, and when it is disrupted or insulted, this can lead to significant sequelae in children with posterior fossa tumors. A constellation of impairing and distressing symptoms, including mutism, ataxia/hypotonia, and emotional lability, develops in approximately 25% of children after the surgical resection of posterior fossa tumors. These symptoms may impede treatment and frequently require intervention in order for children to be able to participate in their care. The eventual recovery of speech occurs for most, but with slowly improving dysarthria over many months. Behavioral changes and emotional lability also occur. This phenomenon has been classified differently by different investigators over the past 35 years. For the purposes of this article, the term posterior fossa syndrome is used to refer to the neuropsychiatric and behavioral features that compose this condition. The current review summarizes the development of the clinical understanding of this phenomenon with a focus on near- and long-term psychosocial and psychiatric implications. Also, clinical examples of the presentation, management, and lasting implications of this syndrome are provided. This review is intended to be a resource for clinicians who treat affected children. Cancer 2017;123:551-559. © 2016 American Cancer Society.

Diplejía facial como forma de presentación clínica de la rotura de un quiste dermoide intracraneal: a propósito de un caso / Facial diplegia as a clinical presentation of a ruptured intracranial dermoid cyst

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