Adaptive, behavioral, and emotional outcomes following postoperative pediatric cerebellar mutism syndrome in survivors treated for medulloblastoma.

OBJECTIVE: Patients who experience postoperative pediatric cerebellar mutism syndrome (CMS) during treatment for medulloblastoma have long-term deficits in neurocognitive functioning; however, the consequences on functional or adaptive outcomes are unknown. The purpose of the present study was to compare adaptive, behavioral, and emotional functioning between survivors with and those without a history of CMS. METHODS: The authors examined outcomes in 45 survivors (15 with CMS and 30 without CMS). Comprehensive neuropsychological evaluations, which included parent-report measures of adaptive, behavioral, and emotional functioning, were completed at a median of 2.90 years following craniospinal irradiation. RESULTS: Adaptive functioning was significantly worse in the CMS group for practical and general adaptive skills compared with the group without CMS. Rates of impairment in practical, conceptual, and general adaptive skills in the CMS group exceeded expected rates in the general population. Despite having lower overall intellectual functioning, working memory, and processing speed, IQ and related cognitive processes were uncorrelated with adaptive outcomes in the CMS group. No significant group differences or increased rates of impairment were observed for behavioral and emotional outcomes. CONCLUSIONS: Survivors with CMS, compared with those without CMS, are rated as having significant deficits in overall or general adaptive functioning, with specific weakness in practical skills several years posttreatment. Findings from this study demonstrate the high risk for ongoing functional deficits despite acute recovery from symptoms of CMS, highlighting the need for intervention to mitigate such risk.

Neuropsychological Profile in Children with Posterior Fossa Tumors with or Without Postoperative Cerebellar Mutism Syndrome (CMS).

Cerebellar mutism syndrome (CMS) is a common surgical sequela in children following posterior fossa tumor (PFT) resection. Here, we analyze the neuropsychological features associated with PFT in children, focusing particularly on the differential profiles associated with the presence or absence of CMS after surgery. We further examine the effect of post-resection treatments, tumor type, and presence/absence of hydrocephalus on surgical outcome. Thirty-six patients diagnosed with PFT (19 with and 17 without CMS) and 34 age- and gender-matched healthy controls (HCs) were recruited. A comprehensive neuropsychological evaluation was conducted in all patients postoperatively and in HCs, including an assessment of general cognitive ability, motor skills, perception, language, memory, attention, executive functions, and academic competence. CMS was found to be a clinical marker of lower neuropsychological profile scores across all cognitive domains except auditory-verbal processing and visual memory tasks. PFT patients not presenting CMS exhibited milder impairment in intellectual functioning, motor tasks, reasoning, language, verbal learning and recall, attention, cognitive executive functions, and academic competence. High-grade tumors were associated with slower processing speed and verbal delayed recall as well as alterations in selective and sustained attention. Hydrocephalus was detrimental to motor functioning and nonverbal reasoning. Patients who had undergone surgery, chemotherapy, and radiotherapy presented impaired processing speed, verbal learning, and reading. In addition to the deleterious effects of PFT, post-resection PFT treatments have a negative cognitive impact. These undesired consequences and the associated tumor-related damage can be assessed using standardized, long-term neuropsychological evaluation when planning rehabilitation.

The multiple faces of catatonia in autism spectrum disorders: descriptive clinical experience of 22 patients over 12 years.

A retrospective review was conducted from the inpatient and outpatient records of twenty-two autistic youth presenting to a neurobehavioral service over a twelve-year period for combined psychiatric and behavioral pathology who also met DSM5 criteria for catatonia. Six autistic girls and 16 autistic boys ranging from ages eight to 26 years old were identified, and their variegated symptoms evaluated. Stereotypy, posturing, negativism, mutism and stupor were the most common catatonic symptoms, each present in more than half of the study patients. One patient had abnormal vital signs indicative of malignant catatonia. Twenty patients had concomitant repetitive self-injurious behaviors that had led to significant tissue injury and were refractory to psychotropic and behavioral interventions. The sample was weighted towards patients with severe self-injurious behavior, which often was the reason for admission. The many "faces" of catatonia in autism spectrum disorders are seen in this sample, and the novel recognition of repetitive self-injury as an under-recognized motor symptom of catatonia is highlighted. The preliminary findings in this study open many important future vistas for ongoing research regarding catatonia in ASDs.

A voz no autismo: uma análise baseada em autobiografias / Voice in autism: an analysis based on autobiographies / La voz en el autismo: un análisis basado en autobiografías

Neste artigo, abordamos a voz no autismo a partir da análise de autobiografias de autistas e de seus pais. Para esta finalidade, enfocamos manifestações como o mutismo, o grito gutural, o monólogo, a expressão irruptiva de palavras esporádicas, a ecolalia, uma língua privada não compartilhada, o recurso a intermediários como o gravador, a mimetização de voz de animais, o recurso a scripts de personagens Disney ou livros. Após descrevermos e sinalizarmos alguns aspectos importantes evidenciados nessa maneira singular de se relacionar com a voz, apontaremos algumas nuanças do funcionamento psíquico do autista.

In this paper, we analyse voice in autism based on the analysis of autobiographies written by autistics and their parents. For this purpose, we focus on manifestations such as mutism, guttural scream, monologue, the irruptive expression of sporadic words, echolalia, a private non-shared language, the use of intermediaries such as tape recorders, animal voice mimicry, Disney characters or books. After describing and signaling some importante aspects evidencied in this unique way of relating to the voice, we will point out some nuances of the psychic functioning of the autistic.

En este artículo trataremos de la voz en el autismo a partir del análisis de autobiografías de autistas y de sus padres. Para tal finalidad, abordamos manifestaciones como el mutismo, el grito gutural, el monólogo, la irrupción de palabras esporádicas, la ecolalia, una lengua privada no compartida, el recurso a intermediarios como el grabador, la mimetización de la voz de animales, el recurso a guiones de personajes de Disney o a libros. Tras describir e indicar algunos aspectos importantes puestos de manifiesto en esta manera singular de relacionarse con la voz, señalaremos algunos matices del funcionamiento psíquico del autista.

The Use of Lorazepam and Electroconvulsive Therapy in the Treatment of Catatonia: Treatment Characteristics and Outcomes in 60 Patients.

OBJECTIVES: Lorazepam and electroconvulsive therapy (ECT) are effective treatments for catatonia. However, systematic data on these treatments in catatonia are limited. In the present study, we aimed to investigate the clinical and treatment-related characteristics of patients with catatonia who underwent lorazepam and/or ECT. METHODS: Between January 2012 and December 2016, we received 60 patients with catatonia hospitalized in the Gaziantep University Faculty of Medicine Clinic of Psychiatry. Lorazepam and/or ECT were used in the patients' treatment schedule. Treatment results were evaluated using the Bush-Francis Catatonia Rating Scale and Clinical Global Impression-Improvement. RESULTS: Thirty-five patients (58.3%) in the sample were in their first catatonic episode. The most common comorbidity was mood disorder (n = 34, 56.7%), whereas the most frequent catatonic sign was mutism (n = 43, 71.7%). Moreover, 31 patients (51.7%) had some form of medical comorbidity. Cerebral abnormalities were detected in computed tomography/magnetic resonance imaging in 22 patients (36.7%). Furthermore, 95% of the patients (n = 57) fully recovered after administration of the treatment. CONCLUSIONS: Lorazepam is a reasonable initial choice in the treatment of catatonia, with rapid consideration for ECT if there is no rapid response to lorazepam.

A girl with tuberous sclerosis complex presenting with severe epilepsy and electrical status epilepticus during sleep, and with high-functioning autism and mutism.

Most patients with tuberous sclerosis complex (TSC) suffer from epilepsy, and many have cognitive and behavioral problems like severe intellectual disability, autism, and hyperactivity. Only rare patients with TSC and autism have a normal intelligence quotient. We report a 13-year-old girl with definite TSC who had early-onset severe epilepsy, autistic behavior, and moderate developmental delay. By school age, however, she had normal intelligence; her intelligence quotient was at least 70 based on a Stanford-Binet test that she refused to complete. She showed good reading, writing, and language comprehension skills, and the special abilities of hyperlexia, hypermnesia, and hypercalculia. However, she did not speak. Criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and her Childhood Autism Rating Scale score of 36 indicated mild to moderate autism. She had severe electroencephalographic abnormalities: hypsarrhythmia, multifocal or generalized epileptiform discharges, and electrical status epilepticus during sleep, with a continuous left temporal focus. Magnetic resonance imaging showed many cortical tubers in all brain lobes, and subependymal nodules. We discuss possible explanations for her lack of speech. Considered as speech apraxia, her mutism could be either a symptom of her TSC or a component of her autism. Another possibility is that long-lasting electrical status epilepticus during sleep led to her autistic behavior and language arrest. Still another possibility is that a disinhibited mammalian target of rapamycin (mTOR) pathway was at the root of all of her neuropsychiatric symptoms.

Cause and outcome of cerebellar mutism: evidence from a systematic review.

PURPOSE: Cerebellar mutism is a serious neurosurgical complication after posterior fossa surgery, but the cause, incidence and outcome remain incompletely defined. The aim of this paper was to identify and review all reports of this phenomenon to better delineate and improve the evidence base. METHODS: A systematic search and retrieval of databases was conducted using advanced search techniques. Review/outcomes criteria were developed, and study quality was determined. RESULTS: The retrieval identified 2,281 papers of which 96 were relevant, identifying 650 children with cerebellar mutism. Causative factors, clinical features and outcomes were reported variably; papers focussed on multiple areas, the majority reporting incidence in single or series of case studies with little or no analysis further than description. CONCLUSIONS: The complexity and variability of data reporting, likely contributing factors and outcomes make cerebellar mutism difficult to predict in incidence and the degree of impact that may ensue. A clear and accepted universal definition would help improve reporting, as would the application of agreed outcome measures. Clear and consistent reporting of surgical technique remains absent. Recommendations for practice are provided.

A case of selective mutism in an 8-year-old girl with thalassaemia major after bone marrow transplantation.

Selective mutism is rare with a prevalence below 1% in the general population, but a higher prevalence in populations at risk (children with speech retardation, migration). Evidence for treatment strategies is hardly available. This case report provides information on the treatment of selective mutism in an 8-year-old girl with preexisting thalassaemia major. As medications she received penicillin prophylaxis (500000 IE/d) and deferasirox (Exjade; 20-25mg/kg/d), an iron chelator. The preexisting somatic disease and treatment complicated the treatment, as there are no data about pharmacological combination therapy. Psychotherapy in day treatment, supported by the use of the SSRI fluoxetine (10 mg), led to a decrease in the selective mutism score from 33 to 12 points, GAF improved by 21 points. Mean levels of fluoxetine plus norfluoxetine were 287.8 ng/ml without significant level fluctuations.

[Hysterical mutism]. / Le mutisme hystérique.

BACKGROUND: Conversion disorders comprise many clinical pictures, including hysterical mutism. Hysterical mutism has emerged as a clinical entity that remains difficult to diagnose, and whose treatment is poorly codified. Hysterical mutism is a disorder of the vocal function without changing the integrity of the body, resulting in loss of voice. Identified at all times, hysterical mutism entered the medical field in the late nineteenth century, under the direction of Jean-Martin Charcot (Salpêtrière School). Since then, although the disorder has emerged as a clinical entity, it remains little known. METHOD: A systematic review of the literature. We performed electronic literatures search of relevant studies using Medline, SUDOC, and BIUM. Search terms used were mutism, functional aphonia, conversion disorder, hysteria. RESULTS: The epidemiology of hysterical mutism is difficult to assess. The first limitation is the lack of consensensual diagnostic criteria. An estimate of its frequency may be advanced through registries consultation of otolaryngology-head and neck surgery. Through a literature review, emerges a rare disorder, about 5% of functional dysphonia. The sex-ratio is in favour of women. Regarding age of onset of disorder, functional aphonia mainly concerns adults with an average around the age of 30-40 years. The onset of the disorder typically involves a sudden onset and a recent stressful event. The duration of the disorder is difficult to specify. It appears that this dysfunction is rapidly reversible and that the majority of patients are in remission of this disorder within three months. The recurrence of dysfunction seems to be frequent. The existence of psychiatric comorbidity did not appear to be the rule. The natural history of this disorder is not known making it tricky to evaluate the efficiency of therapeutic approaches. CONCLUSION: Today the term hysterical mutism does not appear as an entity in either international classification. It belongs to the category of conversion disorder in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR). Identified as a medical entity described by the school of the Salpêtrière, this disorder has raised little interest. The medicalization of the condition remains difficult because of the importance of stigma associated with it, which contributes to the rejection rather than support of patients with mutism. To better understand this disorder and improve the care of patients who suffer, renewed interest is warranted.

Misdiagnosing normality: Psychiatry's failure to address the problem of false positive diagnoses of mental disorder in a changing professional environment.

BACKGROUND: In psychiatry's transformation from primarily an asylum-based profession to a community-oriented profession, false positive diagnoses that mistakenly classify normal intense reactions to stress as mental disorders became a major challenge to the validity of psychiatric diagnosis. The shift to symptom-based operationalized diagnostic criteria in DSM-III further exacerbated this difficulty because of the contextually based nature of the distinction between normal distress and mental disorder, which often display similar symptoms. The problem has particular urgency because the DSM's symptom-based criteria are often applied in studies and screening instruments outside of the clinical context and by non-mental-health professionals. AIMS: To consider, through selected examples, the degree of concern, systematicity and thoroughness - and the degree of success - with which recent revisions of the DSM have attended to the challenge of avoiding false positive diagnoses. METHOD: Conceptual analysis of selected criteria sets, with a focus on possible counterexamples to the claim that DSM criteria imply disorder. RESULTS: Psychiatry has so far failed to systematically adjust its diagnostic practices to confront the problem of false positives. Flaws in criteria, which can be recognized immediately by lay people, remain unaddressed or are addressed on a hit-or-miss random basis years after the flaw has been introduced, even though the issue is purely conceptual and is not sensitive to any new research information.

The spectrum of neurobehavioural deficits in the Posterior Fossa Syndrome in children after cerebellar tumour surgery.

INTRODUCTION: The Posterior Fossa Syndrome (PFS) may occur in children after resection of cerebellar tumours. The most common feature is mutism, but also oropharyngeal dyspraxia, emotional lability and neuropsychiatric symptoms occur. We analysed the spectrum of behavioural abnormalities, speech and language characteristics during PFS. METHODS: In order to identify PFS, all children with a cerebellar tumour admitted to our centre in the study period were prospectively assessed before and after tumour surgery. In the case of PFS, children were systematically followed by means of a standard protocol that included a daily neurological examination and assessment of speech behaviour. Speech was recorded on videotape before and immediately after surgery, and in cases of PFS at as short possible intervals for 4 weeks and subsequently every second week until the recurrence of speech and normalisation of behaviour. Data regarding clinical and behavioural features, duration of symptoms and mode of recovery were collected. Pre- and postoperative MRI data were studied. In 13 children with and two children without PFS a (99m)Tc-hexamethylpropyleneamine oxime-Single Photon Emission Tomography (SPECT) scan could be performed. RESULTS: PFS occurred in 41 of 148 children. During recovery all children were dysarthric, but only in a few speech features specific for cerebellar dysarthria occurred. A significant correlation was found between duration of mutism and severity of neurological symptoms. Significant correlations were also found between duration of mutism and abnormalities on SPECT scans of the left temporal lobe, the left and right basal nuclei, and the right frontal lobe. CONCLUSIONS: In this study, impairments of higher cognitive functions were observed in the context of PFS. They varied in severity and composition between children with symptoms fitting into the spectrum of the Cerebellar Cognitive Affective Syndrome. SPECT scan findings suggest that these impairments are secondary to supratentorial metabolic hypofunction following cerebellar surgery.

The cerebellar mutism syndrome and its relation to cerebellar cognitive function and the cerebellar cognitive affective disorder.

The postoperative cerebellar mutism syndrome (CMS), consisting of diminished speech output, hypotonia, ataxia, and emotional lability, occurs after surgery in up to 25% of patients with medulloblastoma and occasionally after removal of other posterior fossa tumors. Although the mutism is transient, speech rarely normalizes and the syndrome is associated with long-term adverse neurological, cognitive, and psychological sequelae. The clinical, neuroradiographic, and neuropsychological findings associated with CMS as well as possible mechanisms of injury are reviewed. Theories about the pathophysiology of CMS have evolved along with our understanding of the cerebellum as an important structure in the distributive neurocircuitry underlying complex speech, cognition, and behavior. CMS shares many similarities with the cerebellar cognitive affective syndrome, more commonly described in adults and consisting of disturbances of executive function, visuospatial skills, nonmotor language, and affect regulation. Future directions include more thorough neuropsychological characterization, functional and diffusion tensor imaging studies, and investigations into the underlying differences that may make some patients more vulnerable to CMS.

Tratamiento multicomponente de un caso de mutismo selectivo / Multicomponent treatment in a case of selective mutism

Este trabajo presenta el proceso de evaluación y tratamiento de una niña de 6 años que cumple con los criterios para el diagnóstico del mutismo selectivo (APA, 2002). La intervención se realizó utilizando estrategias que incluyen el ámbito individual y el contexto institucional (familia y escuela). Con el fin de alcanzar los objetivos terapéuticos propuestos se diseñaron dos fases diferenciadas en la intervención. La primera incluyó la transmisión de información a padres y personal del centro educativo, así como la instrucción y modelado de los comportamientos deseables y no deseables respecto del problema de la niña; la segunda consistió en el tratamiento de la inhibición del habla mediante desvanecimiento estimular, instigación verbal, refuerzo positivo, economía de fichas y exposición simbólica gradual y trucada. Los resultados mostraron que el habla espontánea en clase, así como el habla y la participación en el juego, se normalizaron y mantuvieron en las medidas de seguimiento a corto, medio y largo plazo.

[Mutism in children]. / Mutismo en niños.

INTRODUCTION: Mutism is absence of verbal expression with conservation of language comprehension. The origin of mutism is multifactorial and may followed from cranial trauma surgery of the posterior fossa, acquired epileptic syndromes and psychogenic origin. OBJECTIVE: To refer patients who had presented mutism of diverse etiology. CLINICAL CASES: We analysed three children who had presented mutism originated by diverse causes. Case 1. A child with family and school problems, attention deficits and limited communication resources. Neurological examination and other auxiliary test (EEG) were normal. He presented no alteration in language or speech. We recommended the change of the school and a psychotherapeutic orientation. Case 2. A 4 year old female child who has suffered varicella 15 days earlier and presented limitations in her verbal expression despite maintain her linguistically capacity. She showed a indifferent behavior and her movements were without finality. Neurological examination was normal. The girl understood and followed instruction properly. However her verbal communication was absent. Total recuperation occurred in 72 hours. Case 3. A 12 years old child who had suffered a cranial traumatism with loss of consciousness ten days earlier. After this traumatism, he presented behavior changes, disorientation and blurred vision. Additionally he presented stereotypies and limitations in psychosocial connections. Despite his mutism, he conserved the structure and content of language. SPECT showed hypoperfusion in orbitotemporal region. Improvement was total 20 days after his traumatism. CONCLUSIONS: The mutism has multifactorial etiology. References were made to three cases who's mutism was related to emotional causes, post-varicella complications and posttraumatic events.