New genes for focal epilepsies with speech and language disorders.

The last 2 years have seen exciting advances in the genetics of Landau-Kleffner syndrome and related disorders, encompassed within the epilepsy-aphasia spectrum (EAS). The striking finding of mutations in the N-methyl-D-aspartate (NMDA) receptor subunit gene GRIN2A as the first monogenic cause in up to 20 % of patients with EAS suggests that excitatory glutamate receptors play a key role in these disorders. Patients with GRIN2A mutations have a recognizable speech and language phenotype that may assist with diagnosis. Other molecules involved in RNA binding and cell adhesion have been implicated in EAS; copy number variations are also found. The emerging picture highlights the overlap between the genetic determinants of EAS with speech and language disorders, intellectual disability, autism spectrum disorders and more complex developmental phenotypes.

Reversible behavioural autistic-like regression: A manifestation of a special (new?) epileptic syndrome in a 28-month-old child. A 2-year longitudinal study .

A 28-month-old boy was referred for acute onset of abnormal head movements. History revealed an insidious progressive regression in behaviour and communication over several months. Head and shoulder 'spasms' with alteration of consciousness and on one occasion ictal laughter were seen. The electroencephalograph (EEG) showed repeated bursts of brief generalized polyspikes and spike-wave during the 'spasms', followed by flattening, a special pattern which never recurred after treatment. Review of family videos showed a single 'minor' identical seizure 6 months previously. Magnetic resonance imaging was normal. Clonazepam brought immediate cessation of seizures, normalization of the EEG and a parallel spectacular improvement in communication, mood and language. Follow-up over the next 10 months showed a new regression unaccompained by recognized seizures, although numerous seizures were discovered during the videotaped neuropsychological examination, when stereotyped subtle brief paroxysmal changes in posture and behaviour could be studied in slow motion and compared with the 'prototypical' initial ones. The EEG showed predominant rare left-sided fronto-temporal discharges. Clonazepam was changed to carbamazepin with marked improvement in behaviour, language and cognition which has been sustained up to the last control at 51 months. Videotaped home observations allowed the documentation of striking qualitative and quantitative variations in social interaction and play of autistic type in relation to the epileptic activity. We conclude that this child has a special characteristic epileptic syndrome with subtle motor and vegetative symptomatology associated with an insidious catastrophic 'autistic-like' regression which could be overlooked. The methods used to document such fluctuating epileptic behavioural manifestations are discussed.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.

Language lateralization in early and late bilinguals using an international vocabulary

In lateralized Lexical Decision Tasks (LDT), accuracy is commonly higher and reaction times are commonly faster for right visual field (RVF) than left visual field (LVF) presentations. This visual field differences are thought to demonstrate the left hemisphere's dominance for language. Unfortunately, different tasks and words are used between studies and languages making direct comparisons difficult. For example, high frequency words show a performance advantage over low frequency words. Moreover, demographic variables impact on lateralized behavior such as language knowledge (one versus several, early acquired versus late acquired). We here aim to alleviate some of these obstacles by presenting results from a lateralized LDT for which we selected words between 4 and 6 letters used in five different languages, i.e. English, French, German, Dutch and Italian. In this first study using these words, we compared performance of right- and left-handed students being either early or late bilinguals (acquired before or after the age of 6 years) from a French-speaking University in Switzerland. Results showed a left hemispheric advantage (accuracy, reaction times) for all groups, with a trend for early as compared to late bilinguals to be less accurate and taking longer in lexical decisions. These results show that the current words result in solid visual field differences, and do so irrespective of how many languages are spoken. While early bilinguals might experience a slight performance disadvantage, it was not affecting visual field differences.

Context- and Prosody-Driven ERP Markers for Dialog Focus Perception in Children.

The development of language proficiency extends late into childhood and includes not only producing or comprehending sounds, words and sentences, but likewise larger utterances spanning beyond sentence borders like dialogs. Dialogs consist of information units whose value constantly varies within a verbal exchange. While information is focused when introduced for the first time or corrected in order to alter the knowledge state of communication partners, the same information turns into shared knowledge during the further course of a verbal exchange. In many languages, prosodic means are used by speakers to highlight the informational value of information foci. Our study investigated the developmental pattern of event-related potentials (ERPs) in three age groups (12, 8 and 5 years) when perceiving two information focus types (news and corrections) embedded in short question-answer dialogs. The information foci contained in the answer sentences were either adequately marked by prosodic means or not. In so doing, we questioned to what extent children depend on prosodic means to recognize information foci or whether contextual means as provided by dialog questions are sufficient to guide focus processing.Only 12-year-olds yield prosody-independent ERPs when encountering new and corrective information foci, resembling previous findings in adults. Focus processing in the 8-year-olds relied upon prosodic highlighting, and differing ERP responses as a function of focus type were observed. In the 5-year-olds, merely prosody-driven ERP responses were apparent, but no distinctive ERP indicating information focus recognition. Our findings reveal substantial alterations in information focus perception throughout childhood that are likely related to long-lasting maturational changes during brain development.

Psychometrics of the Dyadic Coping Inventory in three language groups

This article introduces the Dyadic Coping Inventory (DCI; Bodenmann, 2008) and aims (1) to investigate the reliability and aspects of the validity of the Italian and French versions of the DCI, and (2) to replicate its factor structure and reliabilities using a new Swiss German sample. Based on 216 German-, 378 Italian-, and 198 French-speaking participants, the factor structure of the original German inventory was able to be replicated by using principal components analysis in all three groups after excluding two items in the Italian and French versions. The latter were shown to be as reliable as the German version with the exception of the low reliabilities of negative dyadic coping in the French group. Confirmatory factor analyses provided additional support for delegated dyadic coping and evaluation of dyadic coping. Intercorrelations among scales were similar across all three languages groups with a few exceptions. Previous findings could be replicated in all three groups, showing that aspects of dyadic coping were more strongly related to marital quality than to dyadic communication. The use of the dyadic coping scales in the actor-partner interdependence model, the common fate model, and the mutual influence model is discussed.

Nouveau programme de formation en médecine interne générale: implications pour les médecins de premier recours [The new postgraduate training program in general internal medicine: implications for the primary care physician].

The Swiss postgraduate training program in general internal medicine is now designed as a competency-based curriculum. In other words, by the end of their training, the residents should demonstrate a set of predefined competences. Many of those competences have to be learnt in outpatient settings. Thus, the primary care physicians have more than ever an important role to play in educating tomorrows doctors. A competency-based model of training requires a regular assessment of the residents. The mini-CEX (mini-Clinical Evaluation eXercise) is the assessment tool proposed by the Swiss institute for postgraduate and continuing education. The mini-CEX is based on the direct observation of the trainees performing a specific task, as well as on the ensuing feedback. This article aims at introducing our colleagues in charge of residents to the mini-CEX, which is a useful tool promoting the culture of feedback in medical education.

Infirmier en psychiatrie de liaison : développement de la supervision en milieu somatique [Liaison psychiatry nurse: The development of supervision in somatic medicine].

BACKGROUND: Over the years, somatic care has become increasingly specialized. Furthermore, a rising number of patients requiring somatic care also present with a psychiatric comorbidity. As a consequence, the time and resources needed to care for these patients can interfere with the course of somatic treatment and influence the patient-caregiver relationship. In the light of these observations, the Liaison Psychiatry Unit at the University Hospital in Lausanne (CHUV) has educated its nursing staff in order to strengthen its action within the general care hospital. What has been developed is a reflexive approach through supervision of somatic staff, in order to improve the efficiency of liaison psychiatry interventions with the caregivers in charge of patients. The kind of supervision we have developed is the result of a real partnership with somatic staff. Besides, in order to better understand the complexity of interactions between the two systems involved, the patient's and the caregivers', we use several theoretical references in an integrative manner. PSYCHOANALYTICAL REFERENCE: The psychoanalytical model allows us to better understand the dynamics between the supervisor and the supervised group in order to contain and give meaning to the affects arising in the supervision space. "Containing function" and "transitional phenomena" refer to the experience in which emotions can find a space where they can be taken in and processed in a secure and supportive manner. These concepts, along with that of the "psychic envelope", were initially developed to explain the psychological development of the baby in its early interactions with its mother or its surrogate. In the field of supervision, they allow us to be aware of these complex phenomena and the diverse qualities to which a supervisor needs to resort, such as attention, support and incentive, in order to offer a secure environment. SYSTEMIC REFERENCE: A new perspective of the patient's complexity is revealed by the group's dynamics. The supervisor's attention is mainly focused on the work of affects. However, these are often buried under a defensive shell, serving as a temporary protection, which prevents the caregiver from recognizing his or her own emotions, thereby enhancing the difficulties in the relationship with the patient. Whenever the work of putting emotions into words fail, we use "sculpting", a technique derived from the systemic model. Through the use of this type of analogical language, affects can emerge without constraint or feelings of danger. Through "playing" in that "transitional space", new exchanges appear between group members and allow new behaviors to be conceived. In practice, we ask the supervisee who is presenting a complex situation, to design a spatial representation of his or her understanding of the situation, through the display of characters significant to the situation: the patient, somatic staff members, relatives of the patient, etc. In silence, the supervisee shapes the characters into postures and arranges them in the room. Each sculpted character is identified, named, and positioned, with his or her gaze being set in a specific direction. Finally the sculptor shapes him or herself in his or her own role. When the sculpture is complete and after a few moments of fixation, we ask participants to express themselves about their experience. By means of this physical representation, participants to the sculpture discover perceptions and feelings that were unknown up to then. Hence from this analogical representation a reflection and hypotheses of understanding can arise and be developed within the group. CONCLUSION: Through the use of the concepts of "containing function" and "transitional space" we position ourselves in the scope of the encounter and the dialog. Through the use of the systemic technique of "sculpting" we promote the process of understanding, rather than that of explaining, which would place us in the position of experts. The experience of these encounters has shown us that what we need to focus on is indeed what happens in this transitional space in terms of dynamics and process. The encounter and the sharing of competencies both allow a new understanding of the situation at hand, which has, of course, to be verified in the reality of the patient-caregiver relationship. It is often a source of adjustment for interpersonal skills to recover its containing function in order to enable caregiver to better respond to the patient's needs.

Electrostimulation mapping of comprehension of auditory and visual words.

In order to spare functional areas during the removal of brain tumours, electrical stimulation mapping was used in 90 patients (77 in the left hemisphere and 13 in the right; 2754 cortical sites tested). Language functions were studied with a special focus on comprehension of auditory and visual words and the semantic system. In addition to naming, patients were asked to perform pointing tasks from auditory and visual stimuli (using sets of 4 different images controlled for familiarity), and also auditory object (sound recognition) and Token test tasks. Ninety-two auditory comprehension interference sites were observed. We found that the process of auditory comprehension involved a few, fine-grained, sub-centimetre cortical territories. Early stages of speech comprehension seem to relate to two posterior regions in the left superior temporal gyrus. Downstream lexical-semantic speech processing and sound analysis involved 2 pathways, along the anterior part of the left superior temporal gyrus, and posteriorly around the supramarginal and middle temporal gyri. Electrostimulation experimentally dissociated perceptual consciousness attached to speech comprehension. The initial word discrimination process can be considered as an "automatic" stage, the attention feedback not being impaired by stimulation as would be the case at the lexical-semantic stage. Multimodal organization of the superior temporal gyrus was also detected since some neurones could be involved in comprehension of visual material and naming. These findings demonstrate a fine graded, sub-centimetre, cortical representation of speech comprehension processing mainly in the left superior temporal gyrus and are in line with those described in dual stream models of language comprehension processing.

Prescription médicamenteuse inappropriée: les nouveaux critères STOPP/START [Prescribing inappropriate medication: the new STOPP/START criteria].

Prescribing inappropriate medication (PIM) is a common public health problem. Mainly due to associated adverse drugs events (ADE), it results in major morbidity and mortality, as well as increased healthcare utilization. For a long time, the systematic review of medications prescribed appeared as a solution for limiting PIM and the ADE associated with such prescriptions. With this aim and since 2008, the list of STOPP-START criteria has appeared as attractive in its design, as well as logical and easy to use. The initial version has just been updated and improved. After having detailed all improvements provided to the 2008 version, we present the result of its adaptation into French language by a group of French-speaking expert from Belgium, Canada, France, and Switzerland.