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Background Repetitive behaviors refer to a broad class of responses ranging from stereotypic body movements to impulsive/compulsive behaviors. They may be associated with neurological disorders. Methods This is a case series of six subacute sclerosing panencephalitis (SSPE) patients who presented with a wide spectrum of repetitive motor behaviors and vocalizations. Results Repetitive motor behaviors involved the upper limbs in all patients and lower limbs in 3 patients. The repetitive movements in the upper limbs were clapping, finger-clicking, hand rubbing, flailing, and dystonic posturing. In the lower limbs, the repetitive movements were rubbing with the heel, pelvic thrusting with flexion extension of the leg, and foot tapping. The spectrum of vocalizations included palilalia, whistling, grunting with spitting, and pathological crying. Repetitive behaviors were the presenting features in 2 patients. Conclusions This case series expands the spectrum of repetitive behaviors seen in neurological disorders associated with brain infections. © 2020 International Parkinson and Movement Disorder Society.

SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with slowly progressive cerebellar ataxia, cognitive impairment, behavioral changes, and a vertical family history was evaluated. Following the exclusion of repeat expansion ataxias, whole exome sequencing (WES) was performed. Brain magnetic resonance imaging (MRI), including DTI, and single-photon emission computed tomography (SPECT) were used to study the primarily affected tracts and regions. WES revealed the previously reported heterozygous truncating mutation in ubiquitin ligase domain of STUB1 (ENST00000219548:c.823_824delCT, ENSP00000219548:p.L275Dfs*16) leading to a frameshift. Patient's cognitive status was compatible with CCAS. Novel clinical features different from the original report include later onset chorea, dystonia, general slowness of movements, apraxia, and palilalia, some of which have been recently reported in two families with different STUB1 mutations. CCAS is a prominent and often early feature of SCA48 which may be followed years after the onset of the disease by other complex neurological signs and symptoms. DTI may be helpful for demonstrating the cerebello-frontal tracts, involved in CCAS-associated SCA48, the differential diagnosis of which may be challenging especially in its early years.

Coprolalia and echophenomena repeated in the patients’ mind (CTPh—cognitive tic-like phenomena) have been rarely recognized as part of Gilles de la Tourette syndrome (GTS) symptomatology and their assignment to tics, OCD or other psychopathologies has not been settled. The aim of the paper was to assess the incidence and clinical associations of CTPh in GTS, and to establish if CTPh belong to the tic spectrum. We performed a prospective, one-registration study on a cohort of 227 consecutive patients with GTS. CTPh were diagnosed during the interview and defined as brief, sudden, involuntary thoughts that had corresponding complex vocal tics. CTPh occurred at some point in the lives of 34 (15.0%) patients. The median age at onset of CTPh was 14.5 years (IQR: 10.5–17.5). CTPh were found more frequently in adults, with the most frequent onset in adolescence (44.1%). Four mental phenomena resembling tics were recognized: echolalia (n = 17), coprolalia (n = 16), palilalia (n = 13) and repeating of words in the mind (n = 7). The older the age of patients, the more severe tics, and anxiety disorder significantly correlated with CTPh. CTPh may be considered as a part of tic spectrum with a substantial impact of anxiety disorder. CTPh are a late and age-related symptom of GTS.

Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder including developmental delay/intellectual disability (DD/ID), hypertrichosis cubiti, short stature, and distinctive facial features, caused by mutation in KMT2A gene, which encodes a histone methyltransferase (H3K4) that regulates chromatin-mediated transcription. Different neurodevelopmental phenotypes have been described within the WDSTS spectrum, including a peculiar Autism Spectrum Disorder (ASDs) subtype in some affected individuals. Here, we report a 9-year-old Caucasian male found by next-generation panel sequencing to carry a novel heterozygous de novo KMT2A frameshift variant (NM_001197104.2:c.4433delG; p. Arg1478LeufsTer108). This boy presented a WDSTS phenotype associated with broad neurodevelopmental features, including an unusual speech difficulty (i.e., palilalia), and brain imaging studies revealed an array of cortical anomalies (e.g., frontal simplified gyration, focal frontal cortical dysplasia). These clinical and radiological observations expand the known WDSTS-related neurodevelopmental phenotypes and further strengthen the important role of KMT2A in brain function and cortical development.

Purpose: Dysarthria, a neurological injury of the motor component of the speech circuitry, is of common consequences of traumatic brain injury (TBI). Palilalia is a speech disorder characterized by involuntary repetition of words, phrases, or sentences. Based on the evidence supporting the effectiveness of transcranial direct current stimulation (tDCS) in some speech and language disorders, we hypothesized that using tDCS would enhances the effectiveness of speech therapy in a client with chronic dysarthria following TBI. Method: We applied the constructs of the “Be Clear” protocol, a relatively new approach in speech therapy in dysarthria, together with tDCS on a chronic subject who affected by dysarthria and palilalia after TBI. Since there was no research on the use of tDCS in such cases, regions of interest (ROIs) were identified based on deviant brain electrophysiological patterns in speech tasks and resting state compared with normal expected patterns using the Quantitative Electroencephalography (QEEG) analysis. Results: Measures of perceptual assessments of intelligibility, an important index in the assessment of dysarthria, ​​were superior to the primary protocol results immediately and 4 months after intervention. We did not find any factor other than the use of tDCS to justify this superiority. The percentage of repeated words, an index in palilalia assessment, had a remarkable improvement immediately after intervention but fell somewhat after 4 months. We justified this case with subcortical origins of palilalia. Conclusion: Our present case-based findings suggested that applying tDCS together with speech therapy may improve intelligibility in similar case profiles as compared to traditional speech therapy. To reconfirm the effectiveness of the above approach in cases with dysarthria following TBI, more investigation need to be pursued.

Both developmental and acquired stuttering are related to the function of the basal ganglia-thalamocortical loop, which includes the putamen. Here, we present a case of stuttering- and palilalia-like dysfluencies that manifested as an early symptom of multiple system atrophy-parkinsonian type (MSA-P) and bilateral atrophy of the putamen. The patient was a 72-year-old man with no history of developmental stuttering who presented with a stutter for consultation with our otorhinolaryngology department. The patient was diagnosed with MSA-P based on parkinsonism, autonomic dysfunction, and bilateral putaminal atrophy revealed by T2-weighted magnetic resonance imaging. Treatment with levodopa improved both the motor functional deficits related to MSA-P and stuttering-like dysfluencies while reading; however, the palilalia-like dysfluencies were much less responsive to levodopa therapy. The patient died of aspiration pneumonia two years after his first consultation at our hospital. In conclusion, adult-onset stuttering- and palilalia-like dysfluencies warrant careful examination of the basal ganglia-thalamocortical loop, and especially the putamen, using neuroimaging techniques. Acquired stuttering may be related to deficits in dopaminergic function.

Background Few publications deal with non-neurogenic language disorders (NNLDs), distinct from psychogenic speech disorders such as psychogenic dysphonia or stuttering. NNLDs are alterations in language owing to psychosomatic preoccupations, conversion disorder, psychiatric disorders, or other psychological reasons. Objective To identify and classify the range of NNLDs and their characteristics. Methods This review summarizes the literature on disturbances in language, broadly defined as the use of symbols for communication, which may have a psychogenic or psychiatric etiology. Results The literature suggests a classification for NNLDs that includes psychogenic aphasia with dysgrammatism; psychogenic “lalias” including oxylalia and agitolalia, palilalia and echolalia, xenolalia, glossolalia, and coprolalia; psychologically-mediated word usage; psychotic language; and psychogenic forms of the foreign accent syndrome. Conclusions Clinicians and researchers have insufficiently emphasized the presence of NNLDs, their characteristics, and their identification. Yet, these disorders may be the first or predominant manifestation of a psychologically-mediated illness. There are 2 steps to recognition. The first is to know how to distinguish NNLDs from the manifestations of neurogenic language impairments after a neurological evaluation. The second step is awareness of specific associated and examination features that suggest the presence of a NNLD.

[Background] Supranuclear extraorbital muscle palsy is the core feature of progressive supranuclear palsy (PSP), and ordinarily presents as spontaneous vertical gaze constriction. However, higher visual function associated with visuospatial cognition in PSP patients was not previously considered. [Case presentation] We present a 72-year old right-handed man with PSP- Richardson syndrome (PSP-RS) and abnormal higher visual function. His symptoms began 2 years previously and included the use of small steps while walking, forgetfulness, and postural instability. Neurological examination revealed supranuclear vertical gaze limitation, akinesia, and lead-pipe rigidity without laterality. Neuro-ophthalmological examination showed abnormal ocular movement consistent with PSP, and no visual abnormality was observed. General cognitive functions, including attention and prominent visuospatial orientation and visual attention disturbances, were assessed using neuropsychological tests and concomitant spatial agraphia and impaired configuration using figure copying. Although he presented with mildly decreased and monotonous speech with palilalia, he showed no apparent aphasia, apraxia, visual object agnosia, or Balint's 'optische Ataxie' i.e. visual ataxia under fixation. Brain MRI revealed atrophy of the mesencephalic tegmentum, bilateral frontal lobe, and bilateral hippocampus. N-isopropyl-p-(iodine-123)-iodoamphetamine single photon emission computed tomography revealed decreased cerebral blood flow in the bilateral frontal lobe, lateral temporal lobe, and basal ganglia. Dopamine transporter single photon emission CT revealed uptake attenuation in the bilateral striatum. 123I-metaiodobenzyl-guanidine myocardium scintigraphy results were normal. [Discussion] The patient's symptoms indicated classical PSP-RS accompanied with a combination of disturbances in spatial orientation and visual attention as noted by Holmes and Horrax and 'ataxie optique' by Garcin. Thus, as observed in this patient, many clinically diagnosed PSP patients with undiagnosed higher visual dysfunction, masked by limited eye movement may exist. These symptoms may further our understanding about posterior cortical atrophy and tauopathy including not only PSP but also corticobasal syndrome and Alzheimer disease.

Fahr's syndrome is a rare neurodegenerative disease. It is characterised by the calcification of the basal ganglia, thalamus, dentate nucleus, cerebral cortex, hypocampus and subcortical white mass. The prevalence is 0.3-1.2% according to the routine radiological research. Fahr's disease, characterised by idiopatic calcification of the brain tissue, a hereditary sporadic disease of an unknown cause, is differentiated from Fahr's syndrome, a secondary form of endocrinological, metabolic, infective and degenerative diseases. The data used for this paper is taken from extensive medical documentations, medical records, reports from specialists, discharge lists and contact with the patient herself. The purpose of this paper is to indicate the occurrence of Fahr's syndrome in a patient who is suffering from Systemic lupus erythematosus. A middle-aged patient with Fahr's syndrome is described along with multiple comorbidities, predominantly Systemic lupus erythematosus. The patient was diagnosed seven years ago based on progressive neuropsychiatric problems, depression, palilalia, difficulties with walking and hypobradykinesia, and the results of an magnetic resonance and computerized tomography which describe calcium deposits in the region of the basal ganglia, nucleus caudatus, putamen, left talamic and the brainstem, cerebral and paraventicular, all of that without any signs of disorder of the calcium metabolism. Currently she has trouble speaking due to palilalia, has increased fatigue, limited mobility, difficulties with starting to walk, decreased strength in arms, there is a dominantly bilateral hypobradykinesia on the upper and lower extremities and she moves with assistance. The disease is spreading despite therapy. One of the occasional causes of Fahr's syndrome is systemic lupus erythematosus and should be taken into account in case of neuropsychiatric complications with patients. The connection between cerebral calcification, brain manifestations and lupus remains unclear.

We used discrete random walks for the analysis of two chronic conditions that may be present simultaneously in a patient. We analyzed the comorbidity between two symptoms referring to the pathological repetition of speech: palilalia and echolalia. We used memory walks with coupled memory with probability f. The probability f quantifies the mutual interaction between pairs of random walkers. We perform measures that quantify two characteristics of the walks; one of the local nature, the fractal dimension (D) and another of a global nature, the exponent of Hust (H). We found that typical measures of D are related to less severe degrees of palilalia and echolalia, followed by variations smaller than H. The H measures show that the regime is superdiffusive and there is no transition between diffusion regimes. In the region of comorbidity, the diffusive regimes do not exhibit quantitative values of H of ERW. We find curves for which the symptoms of palilalia and echolalia do not vary. That is, certain changes in the environment, quantified by the feedback parameter (p) and the probability of interaction (f); do not cause variations in the degree of severity of the two types of pathological speech repetition that were studied.

The author proposes a reflection on the palilalia of the subject suffering from Alzheimer's disease at a severe stage. If, most of the time, this behavior of verbal repetition is considered senseless, the aim is to bring a new approach, including the hypothesis of an involution of the system of representation of the subject denies.In palilalia, it is not so much the content that matters but the way of saying. Thus, by emphasizing the saying rather than the saying as well as on the manifestations of the body, the author concludes that the prosody of palilalia becomes an important indicator concerning the state of distress of the subject. From then on, the environment in which the Alzheimer subject is located is paramount. The more the distress increases, the more the flow of the palilalia will be fast and the tone high.After trying to "repeat the repetition" with Alzheimer subject, and finding that this method generated new syllables, the author proposed a music therapy to the three subjects of this research, in the hope that the mediation through music preserves the beneficial effects initially observed. The results validated the hypothesis that active and / or passive music has a positive effect on palilalia, both in terms of appeasement and symbolic relaunch.In fact, this study more broadly suggests that palilalia does not (only) have a neurological cause as research so far suggested, since the modulation of the environment and the presence of another benevolent and listen are able to channel it.; L’auteure propose une réflexion sur la palilalie du sujet atteint de maladie d’Alzheimer à un stade sévère. Si, la plupart du temps, ce comportement de répétition verbale est considéré comme insensé, l’objectif est d’en apporter une nouvelle approche, avec notamment l’hypothèse d’une involution du système de représentation du sujet démentDans la palilalie, ce n’est plus tant le contenu qui compte mais la manière de dire. Ainsi, en mettant l’accent sur le dire plutôt que sur le dit ainsi que sur les manifestations du corps, l’auteure en arrive à la conclusion que la prosodie de la palilalie devient un indicateur important concernant l’état d’angoisse du sujet dément. Dès lors, l’environnement dans lequel se trouve le sujet dément est primordial. Plus l’angoisse augmente et plus le débit de la palilalie sera rapide et la tonalité élevée.Après avoir tenté de « répéter la répétition » avec le sujet dément, et avoir constaté que cette méthode faisait naître de nouvelles syllabes, l’auteure a proposé une thérapie par la musique aux trois sujets de cette recherche, dans l’espoir que la médiation musicale pérennise les effets bénéfiques initialement constatés. Les résultats ont permis de valider l’hypothèse selon laquelle la musique active et/ou passive a un effet positif sur la palilalie, à la fois en termes d’apaisement et de relance symbolique.In fne, cette étude suggère plus largement que la palilalie n’a pas (seulement) une cause neurologique comme les recherches le suggéraient jusqu’à maintenant, puisque la modulation de l’environnement et la présence d’un autre bienveillant et à l’écoute sont capables de la canaliser.

We present six patients with Gilles de la Tourette syndrome (TS) who are also deaf. TS has been observed previously, but rarely reported in deaf people, and to date, so called "unusual" phenomenology has been highlighted. TS occurs almost worldwide and in all cultures, and the clinical phenomenology is virtually identical. In our cohort of deaf patients (we suggest another culture) with TS, the phenomenology is the same as in hearing people, and as in all other cultures, with classic motor and vocal/phonic tics, as well as associated phenomena including echo-phenomena, pali-phenomena and rarer copro-phenomena. When "words" related to these phenomenon (e.g. echolalia, palilalia, coprolalia or mental coprolalia) are elicited in deaf people, they occur usually in British Sign Language (BSL): the more "basic" vocal/phonic tics such as throat clearing are the same phenomenologically as in hearing TS people. In our case series, there was a genetic predisposition to TS in all cases. We would argue that TS in deaf people is the same as TS in hearing people and in other cultures, highlighting the biological nature of the disorder.

Aim Cefepime, a fourth-generation cephalosporin, acts as a GABAA receptor antagonist. Cefepime-induced encephalopathy (CIE) is frequently overlooked. We aimed to clarify the clinical features, characteristic electroencephalography (EEG), and mechanisms of CIE to aid in its early recognition. Methods CIE cases documented by a single-center consultation-liaison team between April 2015 and March 2017 were retrospectively reviewed. For further investigation, neural mass modeling was performed in silico. Results Three patients with CIE refused medication/examination and showed overt pain, palilalia, and much greater deterioration of eye and verbal response than the motor response, which was possibly related to GABAergic dysfunction. Triphasic wave-like generalized periodic discharges with a high negative component (Tri-HNC) were identified on the EEG of all three cases. The simulation reproduced the characteristic feature of 2-3 Hz Tri-HNC and recovery course on EEG, and a possible involvement of individual differences in pharmacological intervention. It also suggested that auto-inhibition (synaptic inputs from interneuron to interneuron) dysregulation contributed to generating Tri-HNC in CIE. Conclusion As CIE is iatrogenic and continues unless cefepime is stopped, early recognition is crucial. Physicians should be vigilant about altered mental status, pain, and verbal changes in patients taking cefepime. Tri-HNC on EEG can expedite the diagnosis of CIE, and the association between Tri-HNC and CIE suggests that an excitatory and inhibitory imbalance due to the dysfunction of GABAergic interneurons is the underlying mechanism. This modeling may offer a new method of investigating disorders related to GABAergic dysfunction.

Esta dissertação, que se insere no campo da Neurolinguística Discursiva, reporta o resultado de nossa pesquisa sobre o estatuto da repetição na linguagem patológica de um sujeito adulto que após a ruptura de um aneurisma apresentou alteração de elementos linguísticos em sua linguagem oral, qual seja, a repetição decorrente da Palilalia. A repetição, enquanto fator textual, linguístico e interacional pode ser definida como a produção de segmentos repetidos duas ou mais vezes em um mesmo evento comunicativo (MARCUSCHI, 1992). O presente trabalho teve como objetivo analisar o uso das repetições produzidas pelo sujeito MM com a finalidade de mapear os tipos de repetição produzidas na fala espontânea, leitura e escrita e promover intervenção e orientação para o sujeito, visando refletir sobre as produções orais das repetições, apresentando as semelhanças e diferenças entre os aspectos normais e patológicos. Para tanto, com base nos postulados da Neurolinguística Discursiva desenvolvemos um trabalho com o sujeito MM, a partir de atividades significativas por meio da interlocução, permitindo que o referido sujeito produzisse em seu diálogo uma linguagem significativa por meio de atividades epilinguísticas. Os dados analisados foram extraídos de situações interativas envolvendo afásico e não afásico que frequentam o Espaço de Convivência entre afásicos e não afásicos (ECOA), situado no Laboratório de Pesquisa e Estudos Neurolinguísticos (LAPEN), localizado na Universidade Estadual do Sudoeste da Bahia[1]UESB, campus de Vitória da Conquista, Bahia, e que se encontra vinculado ao Programa de Pós-Graduação em Linguística (PPGLin). Os estudos realizados nesta pesquisa tendem a indicar que MM produz repetições diferentes dos contextos normais, mas que ainda que por caminhos diferentes as repetições se desenvolvem por meio de atividades epilinguísticas muito exploradas pela Neurolinguística Discursiva, deixando assim a sua linguagem mais significativa ao excercer um monitoramento com características on line, conforme postula Marcuschi (1992), garantindo, assim, a força indeterminada e criadora da linguagem defendida por Franchi (1977).

Some neurological or psychiatric positive, productive symptoms are an abnormal persistence of a sensorial feeling or abnormal repetition of a motor, behavioral or cognitive process corresponding to a perseverative symptom. Palinopsia, palinacousis, and related sensorial symptoms have been described. Verbal and motor symptoms include echolalia, palilalia, echopraxia, and motor perseveration. Cognitive disorders induce perseverative behavior, perseverative thinking, including palipsychism, flashbulb memories, and reduplicative paramnesia (also known as "palimnesia") and many related perseverative symptoms. We propose a review of physiological phenomena and pathological symptoms involving these perseverative or repetitive characteristics and discuss the potential mechanisms and neural network involved in this productive semiology.

We report the cases of two young German male patients with treatment-resistant Tourette syndrome (TS), who suffer from incapacitating stuttering-like speech disfluencies caused by vocal blocking tics and palilalia. Case 1: a 19-year old patient received medical cannabis at a dose of 1 × 0.1 g cannabis daily. Case 2: a 16-year old patient initially received dronabinol at a maximum dose of 22.4–33.6 mg daily. Both treatments provided significant symptom improvement of vocal blocking tics as well as of comorbid conditions and were well tolerated. Thus, cannabis-based medicine appears to be effective in treatment-resistant TS patients with vocal blocking tics.

Palilalia was first described by Souques in 1908 as the repetition of syllables, words, phrases, or sentences of one's own speech.1,2 It is distinctive from disarticulation, reiterative aphasia, and echolalia. Critchley1 observed that the speech tends to be uttered more and more quickly and with less distinctness, so that the latter parts may be almost inaudible—the diminuendo effect. His patients were fully aware of their palilalia, but unable to control it.1 Critchley1 believed palilalia was due to a disorder in the motor mechanism of speaking rather than the creation of thoughts and words themselves. Benke and Butterworth3 expanded on the idea of palilalia as a disorder of motor speech and suggested that, further, it could stem from a defect in a central prearticulatory generator area, or the control module of the articulator or motor speech that provides feedback to terminate the loop. In 1924, Sterling further divided palilalia into 2 distinct types. Type A was palilalia spasmodic or heterophonic, a “compulsive reiteration of utterance with increasing rapidity and decreasing volume,” similar to previously described cases. He added a new type B: atonic or homophonic palilalia, a “reiteration of utterances at a constant rate alternating with periods of silence.”4,5 We present a case of palilalia caused by a steroid-responsive encephalopathy that does not squarely fall into the previously defined categories.

Introduction: Dysfunction in the basal ganglia circuits is a determining factor in the physiopathology of the classic signs of Parkinson's disease (PD) and hypokinetic dysarthria is commonly related to PD. Regarding speech disorders associated with PD, the latest four-level framework of speech complicates the traditional view of dysarthria as a motor execution disorder. Based on findings that dysfunctions in basal ganglia can cause speech disorders, and on the premise that the speech deficits seen in PD are not related to an execution motor disorder alone but also to a disorder at the motor programming level, the main objective of this study was to investigate the presence of sensorimotor disorders of programming (besides the execution disorders previously described) in PD patients. Methods: A cross-sectional study was conducted in a sample of 60 adults matched for gender, age and education: 30 adult patients diagnosed with idiopathic PD (PDG) and 30 healthy adults (CG). All types of articulation errors were reanalyzed to investigate the nature of these errors. Interjections, hesitations and repetitions of words or sentences (during discourse) were considered typical disfluencies; blocking, episodes of palilalia (words or syllables) were analyzed as atypical disfluencies. We analysed features including successive self-initiated trial, phoneme distortions, self-correction, repetition of sounds and syllables, prolonged movement transitions, additions or omissions of sounds and syllables, in order to identify programming and/or execution failures. Orofacial agility was also investigated. Results: The PDG had worse performance on all sensorimotor speech tasks. All PD patients had hypokinetic dysarthria. Conclusion: The clinical characteristics found suggest both execution and programming sensorimotor speech disorders in PD patients. RESUMO Introdução: Na doença de Parkinson (DP) a disfunção dos circuitos dos núcleos da base é um fator determinante na fisiopatologia dos sinais clássicos da DP e a disartria hipocinética é uma das manifestações da doença. No que se refere aos distúrbios da fala associados à DP, os modelos recentes de processamento de fala complicam a visão antiga da disartria como um déficit apenas de execução motora. Baseado nos achados de que as disfunções nos gânglios basais podem causar alterações de fala e que os distúrbios não estão apenas relacionados aos déficits de execução motora, mas também de programação motora, o objetivo deste estudo foi investigar a presença de distúrbios sensórios-motores da programação motora além dos de execução motora já descritos na fala de pacientes com DP. Métodos: O estudo é transversal e se baseou numa amostra composta por 60 adultos pareados por sexo, idade e escolaridade: 30 adultos diagnosticados com DP idiopática e 30 adultos sadios (grupo controle). Dados obtidos em um estudo prévio que analisou alterações de fluência em indivíduos com DP foram reanalisados acrescentando-se todos os tipos de manifestações/erros na fala, a fim de verificar falhas de programação e/ou execução motora. Os pacientes também realizaram avaliação da apraxia orofacial. Resultados: Todos os pacientes tinham disartria hipocinética. O grupo com DP obteve pior desempenho em todas as tarefas de fala. Conclusão: As características clínicas das manifestações/erros de fala encontrados em pacientes com DP são sugestivas de déficits de execução e de programação motora.

SummaryDue to abrupt interruption of hidden benzodiazepine-use, a 68-year-old woman developed a full-blown abstinence delirium characterized by epileptic seizures and progressive focal neurocognitive symptoms. The evolution of such rare neuro-linguistic phenomena as an echoism, palilalia and glossomania associated with a progressive visuo-perceptive syndrome and a visual hallucinosis are for the first time reported within the context of withdrawal. Notwithstanding the lack of any neuroradiological evidence for a morphological lesion in the clinically expected brain regions, the anatomo-clinical hypothesis of a focal frontal and parieto-occipital dysfunction was explicitly corroborated by repeated 99mTc-HMPAO SPECT findings.

Objective Phenotypic heterogeneity in Tourette syndrome (TS) is partly due to complex genetic relationships between TS, Obsessive Compulsive Disorder(OCD) and attention deficit/hyperactivity disorder (ADHD). Part of this genetic overlap may be due to specific symptom clusters that are shared across disorders. Identification of such symptom-based cross-disorder phenotypes may aid gene-finding efforts. Method Symptom-level factor and latent class analyses were conducted in 3494 individuals recruited for genetic studies through the Tourette Association of America International Consortium for Genetics (TAAICG) and replicated in an independent sample. Disease-specific analyses (TS, OCD, and ADHD) were performed first, followed by cross-disorder analyses. Heritability was estimated for each phenotype. TS-, OCD-, and ADHD-associated polygenic load were estimated for the cross-disorders phenotypes of interest. Results The tic-only exploratory factor analysis identified six factors that followed the somatotopic map of the basal ganglia (F1: eye tics, F2: facial and head tics, F3: body/trunk tics, F4: complex vocal and socially inappropriate/disinhibited tics, F5: touching (tapping) tics, and F6: simple vocal tics. The ADHD analysis identified two factors: F1: inattentive and F2: hyperactive/impulsive symptoms, paralleling the DSM-5. The OCD factor analysis identified eight factors: F1: doubts/scrupulosity, F2: symmetry/exactness, F3: contamination/cleaning, F4: aggressive urges, F5: fear of harm, F6: need for sameness, F7: superstitions, and F8: hoarding. We identified two cross-disorder symptom-based phenotypes: symmetry (symmetry, evening up, checking; ordering, arranging, counting, -rewriting, repetitive writing tics) and disinhibition (uttering syllables/words, echolalia/palilalia, coprolalia/copropraxia and obsessive urges to offend/mutilate/be destructive), in addition to tic-only and OCD-only factors. Although all phenotypes were heritable across analyses, symmetry and disinhibition showed the most promise, with heritability estimates of 53% (p=6.3 x 10-10, p=1.7 x 10-18 respectively) comparable to a 58% heritability for DSM-5 based TS. Polygenic risk scores derived from a TS GWAS were associated with symmetry (p= 0.02), while risk scores derived from OCD and ADHD GWAS were not (negative correlations). In contrast, disinhibition was correlated with OCD PRS (p = 0.02) and showed a trend for association with TS and ADHD PRS (p = 0.11 and p = 0.10, respectively). CNV carriers had higher scores for both symmetry and disinhibition. Higher symmetry scores were seen in cases harboring large (≥1Mb), rare singleton duplications (p=0.005). Disinhibition scores were higher in cases who carried CNTN6 duplications (p=0.008), but not those who carried large singleton deletions. Conclusions We identified two heritable TS-related endophenotypes that cross traditional diagnostic boundaries. The symmetry phenotype correlated with TS polygenic load and CNV carrier status, and was present in otherwise “TS-unaffected” mothers, suggesting that this phenotype may reflect additional TS (rather than OCD) genetic liability that is not captured by traditional DSM-based diagnoses. The disinhibition phenotype, in contrast, may reflect more global top-down cognitive control deficits that are present in all three related disorders (TS, OCD, and ADHD).

Dear Sirs, X-linked agammaglobulinemia (XLA; OMIM#300755) is characterized by defects in B-cell maturity, predisposing to severe and fatal CNS infections [1]. Intravenous immunoglobulin (IVIg) therapy allows children with XLA to survive into adulthood. Interestingly, there are reports of progressive neurodegeneration occurring in IVIg-treated primary immunodeficiency patients, including those with no history of severe or chronic infections [2–4]. XLA is caused by mutations in the BTK gene [5–8], which encodes a tyrosine kinase that participates in B-lymphocyte differentiation. Notably, patients exhibiting an atypical course of XLA, complicated with sensorineural deafness and dystonia (i.e., resembling Mohr–Tranebjaerg syndrome), have been found to carry deletions spanning BTK and adjacent TIMM8A [6]. In this case report, we describe the clinical and genetic features of a chronically IVIg-treated Filipino XLA patient with childhood-onset hearing impairment, adult-onset dystonia, and progressive neurodegeneration. The index patient was the only surviving XLA-affected offspring (Fig. 1a), and was receiving IVIg treatments at an average dose of 300–400 mg/kg since being diagnosed with XLA at 3 years of age. Mild hearing impairment was noted early (2 years old), however, language development was at par with age and thus, no formal audiometric evaluation was done. There were no instances of hospitalization for enteric or neurologic infections. At the age of 19 years, the patient started to have dysarthria and gait imbalance, associated with cognitive changes characterized as echolalia, palilalia, and perseveration. Within the year, the behavioral changes increased; the patient had become disinhibited and irritable, necessitating cessation of schooling. Neurologic examination at this time revealed limited horizontal gaze, dystonia in both hands, choreiform movements, postural tremor, and inability to perform tandem gait. Neuroimaging showed atrophy of the caudate nuclei (Fig. 1b). Electroencephalography was unremarkable. Brainstem evoked potentials displayed delayed latencies bilaterally, consistent with central hearing loss. Motor function and cognition further declined, rendering the patient bedbound, incontinent, akinetic mute with generalized hypertonia and spasticity, and dependent for all activities of daily living at 21 years of age. Cerebrospinal fluid parameters did not indicate an infection. Due to the co-occurrence of XLA, dystonia, and hearing loss, we sequenced the entire coding regions of BTK and TIMM8A, which revealed a hemizygous c.1751G[A substitution in BTK (Fig. 1c), but no mutations in TIMM8A. As this transition affects the first nucleotide of exon 18 and potentially altering mRNA splicing, we proceeded to amplify exons 9–19 in cDNA. Sequencing revealed no splicing alterations, indicating that the consequence is A. Domingo T. G. P. M. Schmidt A. Westenberger C. Klein (&) Institute of Neurogenetics, University of Lubeck, Lubeck, Germany e-mail: christine.klein@neuro.uni-luebeck.de

In the last decades, psychiatrists ascribed diverse psychi- atric disorders to Wolfgang Amadeus Mozart, among them the Tourette syndrome. The latter primarily based on fancy erotic letters Mozart wrote to his cousin, containing excessive wordplays plus coprolalia, echolalia, or palilalia, often associated with this syndrome. To this effect, Moller (1) in his review critically scrutinizes Mozart's reported personality traits, time-typical fashion of self-expression (namely his hyperactivity), his correspondence with other persons, expressive and intentional aspects plus biography and medical history. As to language, Moller clarifies that vulgar speech was not only more common in the baroque than nowadays but also served the middle class as dis- tinction from the stilted courtly language. Moreover, the writing of Tourette patients even with severe palilalia usually is fluent. Moller thus judges Mozart's attitude rather as timely and evidence for his suffering from Tou- rette low. Comparing the severity of nicotine dependence and smoking behavior in adult smokers with childhood atten- tion-deficit/hyperactivity disorder history (CH) versus non- CH smokers is subject of Fond et al.'s (2) meta-analysis. The expected more severe smoking behavior in the CH group was only significant before the age of 20, in adult- hood again non-CH smokers drew level. The age of first cigarette differed not significantly, although CH smokers started earlier regularly using tobacco. Since the finding of CH probands consuming more cigarettes each day in adulthood dissolved after removing the only available adolescent study, it needs further studies with adolescents under 20 to investigate a possible association between CH and smoking behavior. Based on consistently reported significant comorbidity between attention-deficit/hyper- activity disorder (ADHD) and affective disorders, Di Nic- ola et al. (3) hypothesized co-occurrence of ADHD in patients with bipolar (BD) or major depressive disorder (MDD) to be associated with more maladaptive personality traits (neuroticism, conscientiousness, and extraversion) plus worse clinical characteristics, outcome, and level of functioning. Comparing remitted MDD, euthymic BD patients, and healthy controls confirmed not only the close relationship between affective disorders, particularly BD, and ADHD, but also revealed a significant association between personality traits and ADHD features, for which reason possible coexisting ADHD should regularly be assessed in patients with affective disorders. Meanwhile, there is an increasing focus on the impact of

Aims and methodConcerns have been raised that catatonia is underdiagnosed. Prevalence varies (1.3-32%) depending on diagnostic criteria. We used the Modified Rogers Scale to rate catatonic signs in patients consecutively admitted to three psychiatric wards over a 10-month period.ResultsThe prevalence of patients demonstrating any catatonic signs was at least 7.9-19.1%. The most common catatonic signs were marked underactivity (not sedated), echolalia/palilalia, marked overactivity (not restlessness) and gegenhalten. In those with catatonic signs, the most common diagnoses were schizophrenia, schizoaffective disorder and dementia.Clinical implicationsMost of the most common catatonic signs in our sample were motor signs. Antipsychotic-induced motor signs reflect interaction between drug and disease. Catatonic signs are not anchored in any one diagnosis and are on a spectrum of severity and quantity. Prevalence of these signs is higher than often presumed.

Palilalia is a rarely documented speech disorder associated with Parkinson’s disease, stroke, epilepsy, etc. Palilalia is characterized by an increased rate of speech along with repetitions of words, phrases, or sentences. Only one published article has discussed treatment of Palilalia. Helm (1979) utilized a pacing board to help his 54-year-old client speak slower and reduce his repetitions. The participant touched the divided board with his fingers as he produced each syllable. This board reportedly slowed the patient’s speech. Melodic intonation therapy (MIT) was designed to help individuals with aphasia communicate more effectively (Sparks & Holland, 1976). MIT involves intoning propositional phrases and sentences using a limited range of musical notes to produce utterances along with tapping to keep the rhythm. Speech productions with MIT resulted in slower, more lyrical productions in comparison to spontaneous speech (Sparks & Holland). MIT incorporates aspects of pacing and rhythm that could be effective in slowing speech rate. This study utilized a single-subject design involving a 42-year-old male who experienced an anoxic brain injury. Speech samples from therapeutic sessions were collected and analyzed. The results indicated significant differences in terms of rate and fundamental frequency between spontaneous utterances and those produced using MIT strategies.Palilalia is a rarely documented speech disorder associated with Parkinson’s disease, stroke, epilepsy, etc. Palilalia is characterized by an increased rate of speech along with repetitions of words, phrases, or sentences. Only one published article has discussed treatment of Palilalia. Helm (1979) utilized a pacing board to help his 54-year-old client speak slower and reduce his repetitions. The participant touched the divided board with his fingers as he produced each syllable. This board reportedly slowed the patient’s speech. Melodic intonation therapy (MIT) was designed to help individuals with aphasia communicate more effectively (Sparks & Holland, 1976). MIT involves intoning propositional phrases and sentences using a limited range of musical notes to produce utterances along with tapping to keep the rhythm. Speech productions with MIT resulted in slower, more lyrical productions in comparison to spontaneous speech (Sparks & Holland). MIT incorporates aspects of pacing and rhythm that could be eff...

Virtually no neurologist nor psychiatrist today can be unaware of the diagnosis of Gilles de la Tourette syndrome (GTS). Although the eponymous description by Dr. Georges Gilles de la Tourette was published in 1885, familiarity with this syndrome has been achieved only recently. In this article, the two most renown accounts of exceptional individuals retrospectively diagnosed with GTS are critically analyzed: British lexicographer Samuel Johnson and Austrian musician Wolfgang Amadeus Mozart. In both cases, clinical descriptions have been retrieved from written documents predating Gilles de la Tourette's original publication. The case for Samuel Johnson having GTS is strong, mainly based on Boswell's extensive biographical account. Johnson was reported to have a great range of tics and compulsions, including involuntary utterances, repetitive ejaculations, and echo-phenomena. On the other hand, there is circumstantial evidence that Mozart may have had hyperactivity, restlessness, sudden impulses, odd motor behaviors, echo/palilalia, love of nonsense words, and scatology, the latter being documented in autograph letters ("coprographia"). However, the evidence supporting the core features of GTS, i.e., motor and vocal tics, is rather inconsistent. Thus, GTS seems to be an implausible diagnosis in Mozart's medical history and completely unrelated to his undisputed musical genius.

Background and purpose Subcortical white matter (WM) plays an important role in speech production and language processing. Most frequently, cerebral WM lesions are secondary to small vessel disease in patients with vascular risk factors. We report the case of a 53-year-old man with history of hypertension and ischemic subcortical lesions, who presented with speech difficulties and mild cognitive impairment. Methods Language and cognitive assessment included Boston Diagnostic Aphasia Examination, Boston Naming Test, Rey Auditory-Verbal Learning Test, Rey-Osterrieth Complex Figure Test, Trail Making Test A and B, Wisconsin Card Sorting Test, Scale for Evaluation of Perceptive Characteristics of Voice and Speech, and Multidimensional Evaluation of Speech and Voice. Results Brain MRI showed ischemic WM lesions and lacunar infarcts in the brainstem and right cerebellum. Cognitive testing revealed mild cognitive impairment, predominantly affecting attention and executive functions. Speech and language analysis demonstrated dysarthria, dysphonia with hypophonia, and imprecise articulation, as well as short rushes of speech, palilalia and mild subcortical dysphasia. Conclusions Neurolinguistic and acoustic analysis in patients with ischemic WM lesions can provide additional information in the understanding of language and speech disturbances, and can assist in patient management.

How different types of tic disorders are diagnosed and the appropriate therapeutic options for their management, with a focus on Tourette syndrome.

Diferencijalna logopedska dijagnostika pretpostavlja prepoznavanje nekog poremećaja i njegovo razlučivanje od drugih poremećaja koji imaju neke zajedničke simptome. U području poremećaja tečnosti govora, netečnosti predstavljaju zajednički simptom koji se može pojaviti kao dio kliničke slike različitih razvojnih i stečenih poremećaja kao što su razvojno mucanje, neurogeno mucanje, psihogeno mucanje, sindrom brzopletosti, afazija, dizartrija, apraksija, palilalija, Parkinsonova bolest te različiti genetski sindromi poput Downovog sindroma, Fragilnog X sindroma, Prader-Willijevog sindroma, Touretteovog sindroma, Neurofi bromatoze tip I i Turnerovog sindroma. Na temelju pregleda novije literature, u ovom radu prikazan je opis navedenih poremećaja tečnosti govora, njihova opća i specifična simptomatologija te su naglašeni diferencijalno dijagnostički kriteriji. Budući da diferencijalna dijagnostika poremećaja tečnosti još uvijek predstavlja veliki izazov u području logopedije, ovaj rad može poslužiti kliničarima kao orijentir u dijagnostičkom postupku. Različiti poremećaji zahtijevaju različite terapijske postupke stoga je postavljanje točne dijagnoze temelj planiranja i provođenja uspješne intervencije. Istraživanja poremećaja tečnosti govora većinom su metodološki neujednačena i veliki broj njih čine studije slučajeva. Buduća istraživanja u ovom području trebaju obuhvatiti veći broj ispitanika, detaljno analizirati govorne i negovorne karakeristike kroz različite govorne zadatke kako bi rezultati istraživanja mogli imati teorijsku i kliničku primjenu.