The neuropsychiatry of Gilles de la Tourette syndrome: The état de l’art

Gilles de la Tourette syndrome (GTS) is a chronic tic disorder characterised by the presence of multiple motor and vocal tics with onset during development. Tics are the most common hyperkinetic symptoms in childhood and co-morbid behavioural conditions (especially obsessive-compulsive disorder, attention-deficit and hyperactivity disorder, affective symptoms, and impulsivity) are present in the majority of patients. Although GTS is no longer considered a rare medical curiosity, its exact pathophysiology remains elusive. Recent research on the brain correlates of the subjective ‘urge to tic’ has highlighted the role of extra-motor pathways within the brain mechanisms of tic generation. Advances in our understanding of the pathophysiology of GTS can pave the way to the implementation of more effective treatment strategies for this heterogeneous neurobehavioral condition. Finally, the development of GTS-specific instruments for the assessment of health-related quality of life has allowed more standardised assessments across the lifespan, capturing the impact of both tics and behavioural co-morbidities.     

Speech articulation performance of francophone children in the early school years: Norming of the Test de Dépistage Francophone de Phonologie

Abstract

Good quality normative data are essential for clinical practice in speech-language pathology but are largely lacking for French-speaking children. We investigated speech production accuracy by French-speaking children attending kindergarten (maternelle) and first grade (première année). The study aimed to provide normative data for a new screening test – the Test de Dépistage Francophone de Phonologie. Sixty-one children named 30 pictures depicting words selected to be representative of the distribution of phonemes, syllable shapes and word lengths characteristic of Québec French. Percent consonants’ correct was approximately 90% and did not change significantly with age although younger children produced significantly more syllable structure errors than older children. Given that the word set reflects the segmental and prosodic characteristics of spoken Québec French, and that ceiling effects were not observed, these results further indicate that phonological development is not complete by the age of seven years in French-speaking children.     

Le réseau de surveillance de la maladie de Creutzfeldt-Jakob

IntroductionTransmissible spongiform encephalopathies (TSE) have been under epidemiological surveillance in France and in Europe since the early 1990s. The observation of iatrogenic Creutzfeldt-Jakob disease (CJD), the outbreak of bovine spongiform encephalopathy (ESB) and its probable transmission to many species gave rise to the surveillance which remains warranted by the emergence of a variant of CJD (vCJD), in 1996.State of artIn France, epidemiological surveillance is coordinated by the InVS which receives input from cases notifications addressed to INSERM Unit 708 directly by clinicians or more often following requests for 14-3-3 detection in CSF. All suspected cases are followed up until a final diagnosis is established. Thanks to the effectiveness of the French network of neuropathology, autopsies are performed in more than half of patients who die with a diagnosis of suspected CJD. Diagnostic criteria allow comparison of the incidence of the different forms of the disease in all countries with a system of surveillance. Sporadic CJD is the most frequent form of the disease with more than 80% of the cases. Its origin remains unknown. To date, cases of iatrogenic CJD referred to the French surveillance network have been caused by dura mater grafts or human growth hormone treatments administrated in the 1980s. Ten percent of TSE are of genetic origin with an autosomic dominant transmission of a mutation or an insertion located on the PRNP gene. The most recent form of the disease is vCJD which is a new form, first described in the United Kingdom in 1994.Prospect and conclusionActive epidemiological surveillance remains a timely issue, particularly in France, because of the development of new cases of iatrogenic CJD after human growth hormone treatment. It is of importance in France and worldwide because of the emergence of post-transfusional cases of vCJD and the possible appearance of vCJD in persons with valine-valine or methionine-valine genotypes at codon 129.     

Concurrence of myasthenia gravis and chorée fibrillaire de morvan

Summary A case of myasthenia gravis associated with a syndrome resembling chorée fibrillaire de Morvan is described. This association has not been previously noted in the literature. It is postulated that this syndrome, when associated with myasthenia gravis, suggests an autoimmune pathogenesis, but prednisolone and plasmapheresis did not alter the symptoms. This case illustrates the fact that a separate entity should be considered when the clinical picture is not compatible with the underlying diagnosis.     

Consenso sobre guías de tratamiento de gliomas de bajo grado elaborado por el grupo de tumores de la SENEC

Adult low-grade gliomas (Low Grade Gliomas, LGG) are tumors that originate from the glial cells of the brain and whose management involves great controversy, starting from the diagnosis, to the treatment and subsequent follow-up. For this reason, the Tumor Group of the Spanish Society of Neurosurgery (GT-SENEC) has held a consensus meeting, in which the most relevant neurosurgical issues have been discussed, reaching recommendations based on the best scientific evidence. In order to obtain the maximum benefit from these treatments, an individualized assessment of each patient should be made by a multidisciplinary team.Experts in each LGG treatment field have briefly described it based in their experience and the reviewed of the literature.Each area has been summarized and focused on the best published evidence.LGG have been surrounded by treatment controversy, although during the last years more accurate data has been published in order to reach treatment consensus. Neurosurgeons must know treatment options, indications and risks to participate actively in the decision making and to offer the best surgical treatment in every case.     

What is mutual aid? The experience of the Fundación de Bipolares de Argentina (Fubipa)

Fubipa is a self-help organization run by bipolar patients, their relatives and friends. It provides emotional support to those affected by the disorder, and disseminates information about the illness and its treatment. This paper outlines its functioning and the history of its inception and development, as well as sharing testimonies of recovered patients who collaborate with our Foundation.     

Recommendations for prophylactic treatment of migraine: Consensus of the Sociedade Brasileira de Cefaléia

The Brazilian Headache Society assigned an Ad Hoc Committee with the purpose of establishing a consensus about prophylactic treatment for migraine and of elaborating recommendations for professionals. The recommendations of the Committee are based in evidences of the world medical literature and on the personal experience of the members, respecting the reality of the existing medication resources in our country.     

Selection of gait parameters for differential diagnostics of patients with de novo Parkinson’s disease

Background: Gait disturbances are an integral part of clinical manifestations of Parkinson’s disease (PD), even in the initial stages of the disease. Our goal was to identify the set of spatio-temporal gait parameters that bear the highest relevance for characterizing de novo PD patients.

Methods: Forty patients with de novo PD and forty healthy controls were recorded while walking over an electronic walkway in three different conditions: (1) base walking, (2) walking with an additional motor task, (3) walking with an additional mental task. Both groups were well balanced concerning age and gender. To select a smaller number of relevant parameters, affinity propagation clustering was applied on parameter pairwise correlation. The exemplars were then sorted by importance using the random forest algorithm. Classification accuracy of a support vector machine was tested using the selected parameters and compared to the accuracy of the model using a set of parameters derived from literature.

Results: Final selection of parameters included: stride length and stride length coefficient of variation (CV), stride time and stride time CV, swing time and swing time CV, step time asymmetry, and heel-to-heel base support CV. Classification performed using these parameters showed higher overall accuracy (85%) than classification using the common parameter set containing: stride time, stride length, swing time and double support time, along with their CVs (78%).

Conclusion: In early stages of PD, double support time and its CV appear to be weak indicators of the disease. We instead found step time asymmetry and support base CV to significantly contribute to classification accuracy.     

The metaphysical art of Giorgio de Chirico. Migraine or epilepsy?

It has been suggested that the great Italian painter Giorgio de Chirico (1888-1978), who developed the unique style of 'metaphysical art', suffered from migraine and used some of his morbid manifestations as a source of inspiration for his paintings. Yet, whereas many of the symptoms that de Chirico described are rare in migraine, they are frequently encountered in patients with temporal lobe epilepsy. Here we rediscuss de Chirico's symptoms critically and suggest that, if his symptoms were of neurological origin, they rather relate to temporal lobe epilepsy than migraine.     

Influence of intracranial hemorrhage and neonatal seizures on the neurological and psychomotor development of premature infants at Hospital de Clínicas de Porto Alegre, Brazil

This study compared the results of neurodevelopmental examination at 6 months' corrected age of premature infants with neonatal seizures and/or intracranial hemorrhage and normal premature infants. There was a statistically significant correlation (p=0.000007) between intracranial hemorrhage and seizures in the group of 68 premature infants seen in the neurodevelopmental outpatient service at Hospital de Clínicas de Porto Alegre, Brazil. Intracranial hemorrhage was significantly associated with multiparity (p=0.02). The neurodevelopmental examination at 6 months' corrected age revealed that patients who suffered neonatal intracranial hemorrhage and/or seizures had inappropriate muscle tone, strength and reflexes, as well as delay in head control. CONCLUSION: We compared the results of neurodevelopmental examinations of two groups of premature infants at 6 months' corrected age. The difference in neurological development at 6 months' corrected age was statistically significant when comparison was corrected for premature infants who had neonatal seizures and periventricular hemorrhage.     

Influencia de la estimulación cerebral profunda en la carga de cuidadores de pacientes con enfermedad de Parkinson

Introduction

Our aim is to assess the burden on caregivers of patients with Parkinson's disease treated with deep brain stimulation (DBS) compared to those caring for patients at advanced stages and undergoing other treatments. We have also assessed the variables associated with presence of caregiver overload.

Endoscopia endonasal de base de cráneo

Introduction and objectiveThe endoscopic endonasal techniques used in skull base surgery have evolved greatly in recent years. Our study objective was to perform a qualitative systematic review of the likewise systematic reviews in published English language literature, to examine the evidence and conclusions reached in these studies comparing transcranial and endoscopic approaches in skull base surgery.Material and methodsWe searched the references on the MEDLINE and EMBASE electronic databases selecting the systematic reviews, meta-analyses and evidence based medicine reviews on skull based pathologies published from January 2000 until January 2013. We focused on endoscopic impact and on microsurgical and endoscopic technique comparisons.ResultsFull endoscopic endonasal approaches achieved gross total removal rates of craniopharyngiomas and chordomas higher than those for transcranial approaches. In anterior skull base meningiomas, complete resections were more frequently achieved after transcranial approaches, with a trend in favour of endoscopy with respect to visual prognosis. Endoscopic endonasal approaches minimised the postoperative complications after the treatment of cerebrospinal fluid (CSF) leaks, encephaloceles, meningoceles, craniopharyngiomas and chordomas, with the exception of postoperative CSF leaks.ConclusionsRandomized multicenter studies are necessary to resolve the controversy over endoscopic and microsurgical approaches in skull base surgery.     

Les programmes de soins ambulatoires contraints dans le cadre de la loi de 2011, modifiée. Point de vue de la direction

A Compulsory Outpatient Treatment (COT) can be organized by the consulting psychiatrist, at the end of the period of 72 hours of observation and care, if the patient requires no longer constant but regular monitoring. It may include exclusive ambulatory care, or short sequences of hospitalization if needed. This modality raises several questions concerning the psychiatrist, the Director of the facility, and the legal status of the patient in COT. The use of force is excluded if the patient does not comply with his compulsory treatment. At the same time, the COT is not subject to systematic control of the judge. The issues are both practical and legal, especially if the doctor decides that the patient needs urgently the return in inpatient facility for medical reasons. The quality of the information issued to the patient is fundamental, in this area where the Director's decision is bound by the decision of the psychiatrist, putting them both in an area of legal uncertainty.     

Lasthénie de Ferjol syndrome. Apropos of a case]

After a brief review of literature, the authors report a case of the "Lasthénie de Ferjol" syndrome. From clinical observations, they establish theoretical landmarks and underline the necessity for searching the meaning.