Supportive and symptomatic management of amyotrophic lateral sclerosis

The main aims in the care of individuals with amyotrophic lateral sclerosis (ALS) are to minimize morbidity and maximize quality of life. Although no cure exists for ALS, supportive and symptomatic care provided by a specialist multidisciplinary team can improve survival. The basis for supportive management is shifting from expert consensus guidelines towards an evidence-based approach, which encourages the use of effective treatments and could reduce the risk of harm caused by ineffective or unsafe interventions. For example, respiratory support using noninvasive ventilation has been demonstrated to improve survival and quality of life, whereas evidence supporting other respiratory interventions is insufficient. Increasing evidence implicates a causal role for metabolic dysfunction in ALS, suggesting that optimizing nutrition could improve quality of life and survival. The high incidence of cognitive dysfunction and its impact on prognosis is increasingly recognized, although evidence for effective treatments is lacking. A variety of strategies are used to manage the other physical and psychological symptoms, the majority of which have yet to be thoroughly evaluated. The need for specialist palliative care throughout the disease is increasingly recognized. This Review describes the current approaches to symptomatic and supportive care in ALS and outlines the current guidance and evidence for these strategies

Patients et soignants FACE à l'épilepsie: enquête qualitative de besoins

En préambule à l'élaboration d'un programme d'éducation thérapeutique du patient avec épilepsie, une enquête de besoins est menée afin d'explorer les difficultés des patients, d'explorer les difficultés que les soignants pressentent chez leurs patients, et de comparer ces deux catégories. MÉTHODE: analyse qualitative de focus group, 4 groupes de patients, 2 groupes de soignants. RÉSULTATS: 4 principaux domaines de difficultés (FACE): F pour Faire face (réaction d'autrui, changements du mode de vie), A pour Avoir (crises, effets secondaires du traitement, interdits), C pour Connaître (représentations, compréhension de la maladie), E pour Être (vécu, émotions). CONCLUSIONS: Les soignants sous-estiment les difficultés d'adaptation, l'impact direct des crises et le ressenti des patients. Les difficultés pressenties par les soignants reflètent leurs propres préoccupations (traitement, compréhension de la pathologie). Un programme d'éducation thérapeutique adapté doit se centrer sur les besoins réels des patients et non sur les besoins pressentis par les soignants

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]

Médecine psychosociale intensive au cabinet : quelques outils pratiques

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

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

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. 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. 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). 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