[The role of the primary care physician in the evolution of a care model in a medico-educational establishment]. / Rôle du médecin de premier recours dans l'évolution d'un modèle de soins d'une institution médico-éducative.

Following the retirement of the referring physician of an institution for people with intellectual and developmental disabilities (DID), the residents found themselves without a general internist. A joint reflection then took place between four actors concerned by the subject: the management of the institution, the health department, Valais hospital and the family and child physician canton branch. At the end of the project, the primary care physician is found to be central to caseload management. Four areas of work have been defined: computerization of the patient files, the consolidation of an interdisciplinary care network, the adaptation of hospital procedures to patients' disabilities and the implementation of continuing education.

Suite au départ à la retraite du médecin référent des résidents d'une institution pour personnes avec déficience intellectuelle et développementale, les résidents se sont retrouvés sans médecin interniste généraliste. Une réflexion commune fut alors menée par 4 acteurs concernés par le sujet : la direction de l'institution, le département de la santé, l'hôpital du Valais et la branche cantonale de Médecin de famille et de l'enfance. À l'issue du projet, la médecine de premier recours se retrouve au centre des prises en charge. Quatre axes de travail ont été définis : l'informatisation des dossiers patients, la consolidation d'un réseau de soins interdisciplinaires, l'adaptation des procédures hospitalières au handicap des patients et la mise en place d'une formation continue.

[Intensive psychosocial medicine in primary care : some practical tools]. / Médecine psychosociale intensive au cabinet : quelques outils pratiques.

The psychosocial crisis is a frequent problem. Because of its complexity and variable nature, it can exceed the resources (administrative, communication) available to the family doctor in his daily practice. It requires specific tools in order to take care of the patient as a whole and identify the main issues. This article details some of these tools such as time management, communication and networking, that allow the practitioner to identify risk situations and manage care for these complex patients during the acute phase of the crisis, as well as in the long term through an often multidisciplinary care.

La crise psychosociale est un problème fréquent. Du fait de sa complexité et de sa nature variable, elle peut dépasser les ressources (administratives, communicationnelles) dont dispose le médecin de famille dans sa pratique quotidienne. Elle nécessite des outils spécifiques afin de prendre en charge le patient dans sa globalité et d'identifier les problématiques principales. Cet article détaille certains de ces outils, tels que la gestion du temps, la communication et le travail en réseau, qui permettent d'identifier les situations à risque et de prendre en charge ces patients complexes lors de la phase aiguë de la crise, mais également sur le long terme à travers une prise en charge souvent multidisciplinaire.

[Top 5 somatic problems of people suffering from mental disabilities with behavioral disorders]. / Top 5 des problèmes somatiques chez les personnes en situation de handicap mental avec troubles du comportement.

Behavioural disorders in adults with mental disabilities are very common and represent a diagnostic challenge. In fact, they often hide a somatic problem, which is more frequent in this population compared to the general population. These somatic symptoms may cause or enhance psychiatric symptoms. People with mental disabilities often have difficulties expressing their pain, which often manifests itself as mood changes. Consequently, it is important to be able to identify the pain as a priority and to treat it. The general practitioner should therefore check for the most common somatic complaints in people with mental disabilities, with the help of the acronym DODUGO (Dental, Otic, Digestive, UroGenital, Orthopaedic).

Les troubles du comportement chez les adultes en situation de handicap mental sont très fréquents et représentent un défi diagnostique. En effet, ils cachent souvent un problème somatique, par ailleurs plus fréquent dans cette population comparée à la population générale. Ces causes somatiques peuvent provoquer ou aggraver des troubles du comportement. Les personnes en situation de handicap ont souvent des difficultés à exprimer leur douleur, qui peut se manifester par un changement d'humeur. Il est donc important de pouvoir en priorité identifier la douleur et la traiter. Il s'agit aussi pour le médecin de premier recours de rechercher les affections somatiques les plus fréquentes chez les adultes en situation de handicap mental, en s'aidant de l'acronyme DODUGO (Dentaire, ORL, Digestif, Urogénital, Orthopédique).

Assessing Inspiratory Muscle Strength for Early Detection of Respiratory Failure in Motor Neuron Disease: Should We Use MIP, SNIP, or Both?

BACKGROUND: Motor neuron disease (MND) invariably impacts on inspiratory muscle strength leading to respiratory failure. Regular assessment of sniff nasal inspiratory pressure (SNIP) and/or maximal mouth inspiratory pressure (MIP) contributes to early detection of a requirement for ventilatory support. OBJECTIVES: The aim of this study was to compare the feasibility, agreement, and performance of both tests in MND. METHODS: Patients with MND followed by a multidisciplinary consultation were prospectively included. Pulmonary follow-up included forced expiratory volumes, vital capacity (VC) seated and supine, MIP, SNIP, pulse oximetry, and daytime arterial blood gases. RESULTS: A total of 61 patients were included. SNIP and MIP could not be performed in 14 (21%) subjects; 74% of the subjects showed a decrease in MIP or SNIP at inclusion versus 31% for VC. Correlation between MIP and SNIP (Pearson's rho: 0.68, p < 0.001) was moderate, with a non-significant bias in favor of SNIP (3.6 cm H2O) and wide limits of agreement (-34 to 41 cm H2O). Results were similar in "bulbar" versus "non-bulbar" patients. At different proposed cut-off values for identifying patients at risk of respiratory failure, the agreement between MIP and SNIP (64-79%) and kappa values (0.29-0.53) was moderate. CONCLUSIONS: MIP and SNIP were equally feasible. There was no significant bias in favor of either test, but a considerable disparity in results between tests, suggesting that use of both tests is warranted to screen for early detection of patients at risk of respiratory failure and avoid over diagnoses. SNIP, MIP, and VC all follow a relatively linear downhill course with a steeper slope for "bulbar" versus "non-bulbar" patients.

Gait Performance and Use of Mental Imagery as a Measure of Disease Progression in Amyotrophic Lateral Sclerosis.

OBJECTIVE: Gait and balance are key determinants of disease status in amyotrophic lateral sclerosis (ALS). This study aims at testing the relationship between the imagery of gait and disability in patients with ALS. METHODS: Twenty-five consecutive patients (63.8 ± 2.4 years; 52% female) performed the timed up and go (TUG) test and a validated imagined version of the TUG between March 2011 and May 2012. The revised ALS functional rating score (ALSFRS-R) was assessed simultaneously. RESULTS: The mean duration of TUG (16.7 ± 2.2 s) was significantly longer than imagined TUG (iTUG; 10.5 ± 1.4 s, p < 0.001). The TUG (R2 = 0.40, p = 0.001) and the iTUG (R2 = 0.30, p = 0.007) were significantly associated with results of the ALSFRS-R score (37.0 ± 7.3) as well as with muscle strength in arms (TUG R2 = 0.42, p < 0.001, iTUG R2 = 0.38, p = 0.001) and legs (TUG R2 = 0.47, p < 0.001, iTUG R2 = 0.46, p < 0.001). TUG and iTUG increased with age (TUG R2 = 0.18, p = 0.04, iTUG R2 = 0.12, p = 0.05). CONCLUSION: ALS patients performed the imagined gait faster than the real gait. Both TUG and iTUG correlated with disability measured by the ALSFRS-R score and by muscle strength. These inexpensive and easy clinical tests represent promising tools in clinical practice to study gait in ALS.

A child with ictal vocalizations and generalized epilepsy.

Ictal vocalizations in the form of both articulate speech and non-speech vocalizations have been described in focal epilepsies, with seizures originating mainly from the frontal and temporal lobe, however, this phenomenon has not been described in generalized epilepsies. We report the case of an adolescent boy with juvenile-onset generalized epilepsy who presented with ictal "ovine vocalizations" (resembling the bleating of sheep). The ictal EEG revealed a clear correlate of vocalizations with time-locked generalized spikes and polyspike discharges. The 3T cerebral MRI ruled out any focal lesion. The boy is currently seizure-free under valproic acid, after twelve months of follow-up. We conclude that ictal non-speech vocalizations may be observed not only in focal or structural epilepsies, but also in generalized epilepsies; the exact underlying mechanism of this phenomenon needs to be further delineated. [Published with video sequence].

Antibody-mediated status epilepticus: a retrospective multicenter survey.

BACKGROUND: In recent years, an increasing number of auto-antibodies (AB) have been detected in the CSF and serum of patients with new onset epilepsy. Some of these patients develop convulsive or nonconvulsive status epilepticus (AB-SE), necessitating intensive medical care and administration of multiple antiepileptic and immunomodulatory treatments of uncertain effectiveness. OBJECTIVES: In this retrospective multicenter survey we aimed to determine the spectrum of gravity, the duration and the prognosis of the disorder. In addition, we sought to identify the antibodies associated with this condition, as well as determine whether there is a most effective treatment regime. METHODS: 12 European Neurology University Clinics, with extensive experience in the treatment of SE patients, were sent a detailed questionnaire regarding symptoms and treatment of AB-SE patients. Seven centers responded positively, providing a total of 13 patients above the age of 16. RESULTS: AB-SE affects mainly women (12/13, 92%) with a variable age at onset (17-69 years, median: 25 years). The duration of the disease is also variable (10 days to 12 years, median: 2 months). Only the 3 oldest patients died (55-69 years). Most patients were diagnosed with anti NMDAR encephalitis (8/13) and had oligoclonal bands in the CSF (9/13). No specific treatment regimen (antiepileptic, immunomodulatory) was found to be clearly superior. Most of the surviving 10 patients (77%) recovered completely or nearly so within 2 years of index poststatus. CONCLUSION: AB-SE is a severe but potentially reversible condition. Long duration does not seem to imply fatal outcome; however, age older than 50 years at time of onset appears to be a risk factor for death. There was no evidence for an optimal antiepileptic or immunomodulatory treatment. A prospective multicenter study is warranted in order to stratify the optimal treatment algorithm, determine clear risk factors of unfavorable outcome and long-term prognosis.

Early advance care planning in amyotrophic lateral sclerosis patients: results of a systematic intervention by a palliative care team in a multidisciplinary management programme - a 4-year cohort study.

INTRODUCTION: Although recommended, the implementation of early advance care planning is suboptimal in amyotrophic lateral sclerosis (ALS) patients. Barriers to advance care planning include healthcare professionals’ and patients’ reluctance, and uncertainty about the right time to initiate a discussion. AIM OF THE STUDY: To determine how often advance care planning was initiated, and the content of the discussion in a first routine palliative care consultation integrated within a multidisciplinary management programme. METHODS: Between June 2012 and September 2016, a prospective cohort study was conducted in Geneva University Hospitals. Sixty-eight patients were seen every 3 months for a 1-day clinical evaluation in a day care centre. RESULTS: The patients’ mean ± standard deviation age was 68.6 ± 11.9 years, 50% were women. Four patients were excluded because of dementia. Advance care planning was initiated with 49 (77%) patients in the first palliative care consultation. Interventions most often addressed were cardiopulmonary resuscitation (49%), intubation and tracheostomy (47%) and palliative sedation (36.7%). Assisted suicide was discussed with 16 patients (36.6%). Functional disability was the only factor associated with initiation of advance care planning. Nearly half of the patients wrote advance directives (45%) or designated a healthcare surrogate (41%). Bulbar onset, functional disability and noninvasive ventilation were not associated with the completion of advance directives. CONCLUSION: Early initiation of advance care planning is feasible in most ALS patients during a routine consultation, and relevant treatment issues can be discussed. All ALS patients should be offered the opportunity to write advance directives as completion was not associated with disease severity. .

Oral function in amyotrophic lateral sclerosis patients: A matched case-control study.

BACKGROUND & AIMS: Patients with amyotrophic lateral sclerosis (ALS) develop swallowing difficulties with the progression of the disease. The present study aimed at comparing oral function and body composition between ALS patients and healthy controls, and at evaluating which parameters are the most discriminant between both groups. METHODS: We included ALS patients at the start of their multidisciplinary follow-up at the Geneva University Hospitals and healthy age-, gender-, and dental status-matched adults. We assessed the severity of the disease through the ALS Functional Rating Scale and the swallowing difficulties through the EAT-10 score. We performed an intraoral examination of the dental status, and measured chewing performance, bite, lip and tongue force, saliva weight, and body composition. Group comparisons were performed with t-tests or Mann-Whitney tests as appropriate. Linear discriminant analysis was used to determine the most discriminant parameters between groups. RESULTS: Twenty-six ALS patients (bulbar onset: n = 7, median (IQR) ALS Functional Rating Scale: 37 (11)) were included. The ALS patients had a significantly lower chewing performance (p < 0.001), lip force (p < 0.001), tongue force (p = 0.002), saliva weight (p < 0.004) and fat-free mass index (p < 0.001) as compared to the healthy individuals, and a higher EAT-10 score (p < 0.001). In ALS patients, a low chewing performance was correlated with a low bite (r = -0.45, p < 0.05)) and tongue force (r = -0.59, p < 0.05). The most discriminant parameters between both groups, by order of importance, were chewing performance, fat-free mass index and saliva weight and allowed the calculation of a discriminant function. CONCLUSION: Compared to healthy controls, ALS patients have significant alterations of oral function and body composition. The most discriminant parameters between both groups were chewing performance, fat-free mass index and saliva volume. It remains to be demonstrated whether oral parameters predict outcome. CLINICAL TRIAL REGISTRY: clinicaltrials.gov, identifier: NCT01772888.

Multidisciplinary care in amyotrophic lateral sclerosis: a 4-year longitudinal observational study.

Over a four-year period, ALS patients complied with the modalities of the multidisciplinary management follow-up without any drop-outs. The multidisciplinary management structure also contributes to increasing the experience and knowledge of the clinicians involved in managing patients suffering from this rare disease.

Epilepsy and tobacco smoking: a cross-sectional study.

There is little data concerning the prevalence of smoking in the population of people with epilepsy. The present study addresses this aspect in a sample of 429 unselected adults with epilepsy living in French-speaking Switzerland. The criterion of at least one cigarette per day for the past 6 months was used to define the status of "current" smoker. The questionnaires included questions about the type of epilepsy and tobacco consumption and were prospectively filled by attending neurologists in the presence of their patient, ensuring a reliable diagnosis of epilepsy. Data were compared with those of the "Tabakmonitoring" data collection, which gives annually detailed information about tobacco use habits in the Switzerland's population according to the different linguistic regions. Among patients suffering from epilepsy, the prevalence of current smoking was 32.1 % (28.8 % among women and 35 % among men), while the prevalence of smoking was 19.0 % in the general population in French-speaking Switzerland in the same period [OR 2.0, confidence interval (CI) 1.6-2.5, p < 0.001]. The subgroup of patients with epilepsy suffering from idiopathic (genetic) generalized epilepsy had the highest prevalence of smoking: 44.3 versus 27.8 % in the other types of epilepsy-p = 0.03. Epilepsy appears significantly correlated to smoking. The possible causal relationship, such as common genetic susceptibility to epilepsy and to nicotine addiction, indirect comorbidity through stress or depression associated with epilepsy, beneficial effect of nicotine on epilepsy, still remains unclear and deserves further studies.

Is tracheostomy still an option in amyotrophic lateral sclerosis? Reflections of a multidisciplinary work group.

QUESTION UNDER STUDY: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with a poor prognosis. Survival and quality of life of ALS patients have improved through the implementation of multidisciplinary approaches, the use of percutaneous gastrostomy and of noninvasive (NIV) or invasive ventilation. The question of whether or not to propose invasive ventilation (by tracheostomy: TPPV) to ALS patients remains a matter of debate. METHODS: The study reviews the medical literature, the practice in three Swiss and two large French ALS expert centres and reports the results of a workgroup on invasive ventilation in ALS. RESULTS: Improved management of secretions and use of different interfaces allows NIV to be used 24-hours-a-day for prolonged periods, thus avoiding TPPV in many cases. TPPV is frequently initiated in emergency situations with lack of prior informed consent. TPPV appears associated with a lesser quality of life and a higher risk of institutionalisation than NIV. The high burden placed on caregivers who manage ALS patients is a major problem with a clear impact on their quality of life. CONCLUSIONS: Current practice in Switzerland and France tends to discourage the use of TPPV in ALS. Fear of a "locked-in syndrome", the high burden placed on caregivers, and unmasking cognitive disorders occurring in the evolution of ALS are some of the caveats when considering TPPV. Most decisions about TPPV are taken in emergency situations in the absence of advance directives. One exception is that of young motivated patients with predominantly bulbar disease who "fail" NIV.