Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis,Frontotemporal Degeneration & Parkinson’s Disease

Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives.     

Influence of obstetrical events on satisfaction and anxiety during childbirth: a prospective longitudinal study

The aim of this study was to investigate the feelings of anxiety and satisfaction among 79 primiparas who had uncomplicated pregnancies, at the time of hospital admission and after birth, considering the mode of delivery, analgesia, and pain levels. Questionnaires were completed at admission to the hospital and two months after delivery, using the State-Trait Anxiety Inventory (STAI) state scale and the Labour Agentry Scale. The mean (SD) STAI state score was higher at admission (36.7 (10.7)) than 4 months after childbirth (32.1 (9.7)) (paired Student’s t-test, t = 2.93; df = 78; p = .004). However, the postnatal anxiety was not associated with the mode of delivery, epidural or pain. Regarding the satisfaction with the expectations of control during childbirth, the mean (SD) score was higher before childbirth (166.0 (21.8)) than after (157.5 (33.5)) (paired Student’s t-test, t = ?2.28; df = 77; p = .03). The satisfaction with the childbirth experience was significantly associated with the expectations of childbirth and the mode of delivery, but not with analgesia or pain. The postnatal anxiety was associated with physical health, pain and the Edinburgh Postnatal Depression Scale score during the postpartum period. It is important to consider the temporality of perinatal anxiety in order to understand its causes. Our results indicate that the experience of childbirth was predicted in this sample by the antenatal expectations and delivery outcomes.     

Object individuation in 3-day-old chicks: use of property and spatiotemporal information

Object individuation was investigated in newborn domestic chicks. Chicks' spontaneous tendency to approach the larger group of familiar objects was exploited in a series of five experiments. In the first experiment newborn chicks were reared for 3 days with objects differing in either colour, shape or size. At test, each chick was presented with two groups of events: two objects differing in one property vs. two presentations of the same object. In both cases, all objects involved in the same group of events were sequentially presented and eventually concealed in a different spatial location, and the number of events taking place at each location was equalized. Chicks spontaneously approached the two different objects rather than the single object seen twice. Chicks did not just prefer the more varied set as they did not choose it when the two elements of each group of events were simultaneously presented (Experiment 2). Chicks succeeded when two different objects simultaneously presented were confronted with three identical ones simultaneously presented (Experiment 3), though they failed with sequential presentation of two different objects vs. one object presented three times if they had been familiarized with up to three identical objects (Experiment 4). Chicks instead succeeded if they had been familiarized with objects that were all different from one another (Experiment 5). These young birds thus proved able to use property and spatiotemporal information for object individuation.     

Speed of processing, anticipation, inhibition and working memory in bilinguals

Literature on the so-called bilingual advantage is directed towards the investigation of whether the mastering of two languages fosters cognitive skills in the non-verbal domain. The present study aimed to evaluate whether the bilingual advantage in non-verbal skills could be best defined as domain-general or domain-specific, and, in the latter case, at identifying the basic cognitive skills involved. Bilingual and monolingual participants were divided into two different age groups (children, youths) and were tested on a battery of elementary cognitive tasks which included a choice reaction time task, a go/no-go task, two working memory tasks (numbers and symbols) and an anticipation task. Bilingual and monolingual children did not differ from each other except for the anticipation task, where bilinguals were found to be faster and more accurate than monolinguals. These findings suggest that anticipation, which has received little attention to date, is an important cognitive domain which needs to be evaluated to a greater extent both in bilingual and monolingual participants.     

The mirror neuron system and action recognition

Mirror neurons, first described in the rostral part of monkey ventral premotor cortex (area F5), discharge both when the animal performs a goal-directed hand action and when it observes another individual performing the same or a similar action. More recently, in the same area mirror neurons responding to the observation of mouth actions have been also found. In humans, through an fMRI study, it has been shown that the observation of actions performed with the hand, the mouth and the foot leads to the activation of different sectors of Broca's area and premotor cortex, according to the effector involved in the observed action, following a somatotopic pattern which resembles the classical motor cortex homunculus. These results strongly support the existence of an execution-observation matching system (mirror neuron system). It has been proposed that this system is involved in action recognition. Experimental evidence in favor of this hypothesis both in the monkey and humans are shortly reviewed.     

Endogenous task shift processes in relapsing-remitting multiple sclerosis

This paper reports a study that was aimed to evaluate executive functions in relapsing-remitting multiple sclerosis patients. The groups tested comprised 22 relapsing-remitting multiple sclerosis patients, and 22 non-brain damaged controls. When one is engaged in two speeded tasks, not simultaneously but with some form of alternation, it is slower to respond to an item of task A if it was preceded by an item of task B, than when it was preceded by an item of task A. Shifts between sets of cognitive operations can be internally or externally generated. Endogenous task shift refers to advance preparation for the new task. In the present study, we tested endogenous shift cost in relapsing-remitting multiple sclerosis patients. The results indicate a greater shift cost for patients than for non-brain damaged controls.     

Unpacking the cognitive map: the parallel map theory of hippocampal function

In the parallel map theory, the hippocampus encodes space with 2 mapping systems. The bearing map is constructed primarily in the dentate gyrus from directional cues such as stimulus gradients. The sketch map is constructed within the hippocampus proper from positional cues. The integrated map emerges when data from the bearing and sketch maps are combined. Because the component maps work in parallel, the impairment of one can reveal residual learning by the other. Such parallel function may explain paradoxes of spatial learning, such as learning after partial hippocampal lesions, taxonomic and sex differences in spatial learning, and the function of hippocampal neurogenesis. By integrating evidence from physiology to phylogeny, the parallel map theory offers a unified explanation for hippocampal function.     

The social cognition of immigrants' acculturation: effects of the need for closure and the reference group at entry

Three studies found support for the notion that immigrants' acculturation to the host culture is interactively determined by their need for cognitive closure (A. W. Kruglanski & D. M. Webster, 1996) and the reference group they forge on their arrival. If such reference group is fashioned by close social relations with coethnics, the higher the immigrants' need for closure, the weaker their tendency to assimilate to the new culture and the stronger their tendency to adhere to the culture of origin. By contrast, if the reference entry group is fashioned by close relations with members of the host country, the higher their need for closure, the stronger their tendency to adapt to the new culture and the weaker their tendency to maintain the culture of origin. These findings obtained consistently across 3 immigrant samples in Italy, 1 Croatian and 2 Polish, and across multiple different measures of acculturation.     

Mood changes after maximal exercise testing in subjects with symptoms of exercise dependence

Considering exercise has positive and negative reinforcing properties, the mood states of sedentary, nonexercise-dependent and exercise-dependent volunteers were compared after maximal exercise testing. Mood status was evaluated by the Beck Depression Inventory, Trait-State Anxiety Inventory, and Profile of Mood States (POMS). No differences were detected before the test or after it, indicating little possibility of positive reinforcement. However, a significant reduction in the POMS Tension-Anxiety scores was observed in both exerciser groups (greater in the exercise-dependent group) but not in the sedentary group. Only in the exercise-dependent group were significant reductions in Anger and Total Mood Disorders scores observed compared with their pre-exercise scores. These data suggest that exercising has stronger negative reinforcement properties for exercise-dependent volunteers and is a factor which could increase the odds of their becoming dependent on exercise.