Apport des approches inspirées de la neuropsychologie au diagnostic d’autisme chez l’adulte : une étude de cas

Given that autism spectrum disorders are highly heterogeneous in their clinical presentation, diagnostic assessment in adults, whose symptoms may be complicated by the presence of various comorbidities and developmental trajectories, is not easily practiced in a clinical psychiatric setting. The present study aims at describing diagnostic assessments inspired by current research on cognition in autism. Core cognitive traits, such as theory of mind, executive function and weak central coherence, thought to be endophenotypic traits, are analyzed. Moreover, the utility of screening scales, constructed on the basis of these cognitive traits, is discussed. We describe the case of a 29-year-old French man, referred by his occupational physician, due to the onset of anxiety attacks in his workplace. During the first outpatient psychiatric assessment, he seemed inhibited, and revealed that social situations fueled his anxiety attacks. He was therefore diagnosed with personality avoidance disorder, depression and social anxiety. Although depression and anxiety decreased after Buspirone and Milnacipran were prescribed, some clinical symptoms, such as lack of interest in social situations, ritualized behavior, narrow specific interests (i.e., astronomy, history), and a very good memory for factual information, remained. According to the patient, these symptoms appeared during his infancy. These symptoms, consistent with Asperger Syndrome diagnosis, led to the administration of two screening scales: the Autism Quotient (AQ) and the Empathy Quotient (EQ). The results obtained in these scales were consistent with Asperger Syndrome diagnosis. They indicated the presence of qualitative difficulties in social interactions, a lack of spontaneous empathy and attention switching, among other behaviors. À comprehensive diagnostic assessment was then proposed. The Diagnostic Interview for Social and Communication disorders (DISCO), a semi-structured interview with parents, was used in order to gather developmental and behavioral information. A neuropsychological assessment was conducted with the patient. Both assessments revealed developmental and neurocognitive particularities consistent with Asperger Syndrome diagnosis. Among these cognitive traits, (i) episodic memory peculiarities, such as idiosyncratic encoding and retrieval strategies and impaired encoding of complex visual stimuli (ii) absence of significant difference between the verbal and the performance scales of the WAIS III, but significant differences among subtests, (iii) executive dysfunction found in flexibility and generativity tasks, (iv) perceptive focalization on details, and most importantly (v) significant impairment on theory of mind tasks are worth noting In conclusion, numerous adults with Asperger Syndrome were not diagnosed during childhood. This is probably due to the relatively recent changes in nosography, and their cognitive development, which is not characterized by language delay, in opposition to high functioning autism. Therefore, screening for autism spectrum disorders in a clinical psychiatric setting is important. Screening can lead to a more comprehensive assessment pinpointing developmental history, cognitive profile, and comorbidities, given that these three factors are indispensable for an effective therapeutic follow-up.     

Syndrome démentiel dans les suites d’une bipolarité

Introduction

Converging evidence suggests that people with bipolar disorder (BPD) exhibit persistent cognitive impairment independently from the emotional state. In old age BPD, the cognitive decline is more severe and can fulfill the criteria of dementia. However, the characteristics of bipolar disorder dementia are still unknown.

Aim of the study

The aim of the study was to characterise the cognitive and imaging profile of the dementia following bipolar disorder.

Method

Patients fulfilling criteria of dementia and followed-up in the memory unit for at least two years were included. Patients with substance abuse were excluded. A battery of specific (assessing verbal memory, attention, frontal executive function, construction and visuospatial impairment), and global (MMSE and Mattis dementia rating scale) neuropsychological tests, behavioural assessment using the frontotemporal behavioural scale, MRI and HMPAO–SPECT imaging were performed in all patients during euthymic state.

Results

We included 13 patients with bipolar disorder (9W/4M). The mean age was 70.8 years (±7.7). Dementia began in average 29.2 years (±10.1) after the onset of the bipolar disorder. The mean score of MMSE was 24.0 (±4.3). The mean score of the Mattis dementia rating scale was 122.5 (±8.9). After an average of 6.1 years (±2.8) of follow-up, the mean score of MMSE was 23.5 (±3.2). The annual MMSE score decrease was of 0.5 (±4.4) per year. In more than 75% of the patients, Trail-Making Test-part B, Go-nogo test, Stroop test, delayed free recall in verbal explicit long-term memory test, category fluency tasks and code test were impaired. In more than 50% of patients, free recall, delayed cued recall, clock test, visuospatial battery and temporal orientation were impaired. On the other hand, spatial orientation and recognition were within the standards. The mean of the BREF score was 10.6 (±3.2). A moderate frontal behavioural syndrome was observed, but never persistent hallucinations. Seven patients had been treated with lithium and seven with antipsychotics, but none during the neurological assessment. Moderate extrapyramidal signs were reported in 10 patients, of which the seven patients treated in the past with antipsychotics. MRI showed no focal atrophy and no vascular lesions. Functional imaging conducted in 10 patients always showed uptake decrease in the frontotemporal regions and sometimes in the parietal region too. After six years of follow-up, no patient fulfilled the probable criteria for the main dementia, Alzheimer disease, vascular dementia, frontotemporal dementia and dementia with Lewy bodies.

Conclusion

The data of this study support a possible specific dementia postbipolar disorder and not only mild cognitive decline. This hypothesis could be tested in a prospective study. Such dementia could be a main differential diagnosis from long lasting frontotemporal dementia. The pathogenic process of this dementia could also be determined.     

Connaissance des nouveaux mots de la langue française dans les troubles cognitifs légers de type amnésique et la maladie d’Alzheimer

Introduction

The first decline in cognitive performance in Alzheimer's disease can appear when assessing semantic memory and can be detected long before the typical symptoms of Alzheimer's disease (AD), appearing with Mild Cognitive Impairment (MCI).

Patients and method

We propose the French version of the New Words Interview (fNWI) using 22 words to investigate semantic knowledge. The fNWI uses 11 words, which entered the French dictionary between 1996 and 1997, and 11 other words, which entered between 2006 and 2007. Words were paired according to orthographic and semantic criteria. Each word was associated with three sub-tests: free evocation, discrimination of the best definition from three propositions, and recognition of the accurate word context (two sentences were proposed). Regarding evocation, we distinguished conceptual definition, life situation examples or examples by use. We tested 12 patients with AD, 12 patients with amnesic Mild Cognitive Impairment (aMCI) and 72 controls (12 were paired with patients for age and education level).

Results

MCI patients and AD patients exhibited lower performance than controls in the three sub-tests and for the words of both periods. From the early stage of MCI, the patients were more impaired in the fNWI than in the context recognition task, and they failed to provide conceptual definitions of new words. Therefore, MCI patients suffer from semantic impairments before obvious clinical signs of AD.

Conclusion

In patients with AD, performance worsened on all subtests, and more strongly in the definition discrimination task, which suggests the impairment of stored semantic knowledge. They provided fewer conceptual definitions and failed to use the strategy observed in MCI patients, who compensated for conceptual difficulties by providing examples.     

Apport d’une démarche électroclinique dans le diagnostic de l’épilepsie chez une population de sujets âgés confus

Background

Delusion symptoms often occur in old people; epilepsy is one of the main reasons behind these acute episodes. Current guidelines and recommendations from the Academy of Medicine have proposed a double clinical and electroencephalographic approach. Recently, a working group of French experts has issued an electro-clinical scale. The aim of our study was to compare the usual approach with the new one based on the electro-clinical score.

Method

All EEG requests performed since December 2008 in Bretonneau Hospital for elderly people aged over 75 years for delusion syndromes were retained for this study.

Results

One hundred and fifteen old patients from a geriatric-hospital (age 83.5 ± 6.06 years) were included in this protocol. The classical diagnostic process yielded the diagnosis of epilepsy for 50 subjects. The electro-clinical scale confirmed the diagnosis of epilepsy in 30 patients and ruled it out in 29 patients.

Conclusion

This study underscores the importance of evidence-based medicine for the diagnosis of epilepsy in old people and points out the underuse of the new technical tool, EEG-monitoring, for the management of these patients.     

Traitements pharmacologiques des troubles psychocomportementaux dans la maladie d’Alzheimer

Behavioural symptoms are common in Alzheimer's disease and may affect up to 90% of patients. Different drug therapies may be indicated and these symptoms need correct evaluation before prescribing. Management is complex and based on therapeutic strategy such as nonpharmacologic and pharmacologic treatment. The first step should always be nonpharmacologic but some drugs such as cholinergic therapy and psychotropic have shown efficacy on these symptoms. When prescribed, they need careful evaluation of risk/benefit.     

Les troubles anxiodépressifs dans la maladie de Parkinson : une revue de la littérature

For a long time, depression and anxiety have been neglected in Parkinson’s disease in favour of motor impairments. Since the 70’s and the beginning of the dopatherapy, the psychopathological perturbations are more and more considered, including by the neurologists. The aim of this study is to review the main studies related to depression and anxiety in Parkinson’s disease. Four main topics are tackled in this review: The prevalence, the etiology and the semiology of the depression as well as the anxiety disorders; the assessment tools and methodological problems for assessing these troubles. Beside these main subjects, we adress some interesting questions, which concern patients as well as clinicians, like the relationship between the depression and/or anxiety and the motor impairments, the disease duration and the type of the Parkinson’s disease. We tackle also the question of the relationship between the depression and/or anxiety and the cognitive troubles and we focus about the main types of cognitive impairment found in Parkinson’s disease with depression and anxiety. We review some studies, which found a link between psychic disorders and depression. It is now obvious that the deep brain stimulation has become an efficient treatment of motor symptoms. In this review, we focus on the effect of the deep brain stimulation on depression. We also discuss the different treatment available for depression and anxiety in Parkinson’s disease. Because of their frequency and their impact on the quality of life, it is particularly important to give a specific attention to these troubles in Parkinson’s disease.     

Déficit multiple en acyl-CoA déshydrogénases : une cause traitable de lipidose musculaire d’origine génétique

Introduction

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare genetic disease involving fatty acid oxidation. It is due to the deficiency of one of the two electron transporters: electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxydoreductase (ETF-QO). Symptoms begin more often in childhood or in young adulthood with a multisystemic disease with encephalopathy or muscular weakness.

Case reports

We report here two adult cases with ETF-QO deficiency, confirmed by mutation analysis (ETFDH gene), revealed by a muscular weakness associated with muscle lipidosis. One of our patients presented an acute encephalopathy with vomiting ten years before the onset of muscular symptoms. The second patient exhibited a slowly progressive pelvic girdle muscle weakness. Diagnosis was established by characteristic abnormalities of acylcarnitine profile by tandem mass spectrometry. For both patients, a dramatic clinical improvement was observed under treatment with riboflavine and L-carnitine.

Conclusion

Since it is a treatable disorder, this diagnosis must be considered by performing an acylcarnitine profile in all patients presenting with an unexplained muscular weakness.     

Apport de la génétique dans les études sur la résilience : l’exemple de l’autisme

Resilience refers to patterns of positive adaptation in the context of significant risk or adversity. In the early 1970s, researchers began to discuss the importance of observing why some individuals did not develop psychopathological troubles in spite of being at risk. Over the past 30 years, real advances have occurred in understanding the complexity of causality and the interaction of multiple risks and protective factors in the process of resilience.Two major approaches have characterized the research in this domain: the variable-focused approach and the person-focused approach. Many variable-based models conceptualized interactions and/or correlations between individual environmental risk and protective factors. These models have been extended with recent studies investigating the link between genetic risks and resilience. From a genetic perspective, resilience could be understood as the extent to which an individual who possesses a genetic risk for psychopathology does not develop troubles. But, even if most studies have been concerned with dividing population variance into effects attributable to genes and those attributable to environment, it now seems clear that other effects exist. Examples of correlation models (rGE) underline the need to differentiate the genetic and environmental mediation of risk processes and of moderation or resistance to them.To clarify this new framework, an example of study of resilience in families having an autistic child was proposed. Data from twin studies and family studies offered strong support for the genetic contribution to autism. Studies in relatives of autistic persons extended these results by indicating a similar pattern of social and/or communication difficulties in first degree or more distant relatives of the child (the broader autism phenotype). In addition to genetic factors, growing up with an autistic sibling is expected to cause psychological and emotional difficulties in family members. Studies in siblings of autistic individuals have shown that they were at risk of psychiatric disorders as major depression and anxiety disorders in these subjects have been found to be twofold greater than in controls. However, studies investigating the psychological adjustment in siblings of autistic individuals showed no significant differences with controls. Some of these contradictions may be attributed to methodological issues, but the question remains concerning the validity of employing the term of ’resilience’ in this research domain. There is a growing acceptance of the need to study and question the various methodological hazards that could lead to false impressions of resilience. Studies in the area of resilience should follow interdisciplinary and multiple levels of analysis perspectives. Such investigations may reveal that genes may also serve as a protective function for individuals facing adversity. Resilience could help to broaden the understanding of developmental processes that may not be so evident in normative environments.     

De l’intentionnalité à l’anticipation dans la démence de type Alzheimer

Intentionality is not anticipation or planning. It is always “aimed towards…” without prejudging the object towards which it moves. Intentionality is what characterizes the psychic activity of the subject in what is always beyond itself, it differs from a purely biological reality. Intentionality is a priori unspecified energy, a movement which spreads out secondarily in an object to become anticipation i.e. action resulting from an individuality. The dementia patient stigmatized by degradation of cognitive functions is still capable of this “tension towards” and of simultaneously collecting the fruits of this dash towards the future which defines anticipation. For this reason he/she remains a person i.e. capable to be beyond himself and of what he/she shows of his/her biological reality. Three Alzheimer patients were met via the Anticipation test, each one twice at two months interval. The materials collected show how the selected images express a non-random movement. The intentions of a subject are profiled behind the pathological pattern, thus confirming former work, indicating that psychic activity cannot be identified with the neurobiological substrate.     

Conscience de Soi, maintien du Soi et identité humaine au cours de la maladie d’Alzheimer

Identity is a part of self-consciousness, which is also expressed as “being in the world” which one in turn shows to others as the Self. The assessment of the Self in a population of patients with Alzheimer's disease, according to a multidimensional definition (physical, social, spiritual), showed that the social self was impaired, and the severity of impairment of the self was correlated to apathy and lack of semantic autobiographical memory. It also appears that ipseity is selectively affected by the disease.     

Déficits des fonctions exécutives dans la schizophrénie selon les dimensions positive, négative et de désorganisation

The aim of this study was to examine whether executive deficits underlie positive, negative and disorganisation of schizophrenia. The sample comprised 34 patients (30 males, 4 females) diagnosed with DSM-IV criteria (mean age = 35 ± 9.5 years; mean duration of illness since first psychotic symptoms = 10.2 ± 7 years; mean years of education = 11.7 ± 2.6). Evaluation of patients was performed after achieved sufficient remission (clinically stable for 4 weeks at least, no depressive symptoms at moment of cognitive testing and no medication change during the three last weeks). Symptom dimensions were evaluated using items drawn from the Positive And Negative Symptoms Scale (PANSS). The Negative factor comprised N1 (blunted affect), N2 (emotional withdrawal), N3 (poor contact), N4 (passive, apathetic), N6 (lack of spontaneity), G7 (stereotyped thinking) and G16 (active social avoidance). The Positive factor comprised P1 (delusions), P3 (hallucinatory behaviour), P5 (grandiosity), P6 (suspiciousness) and G9 (unusual thought content). The Disorganisation factor comprised P2 (conceptual disorganisation), N5 (difficulty in abstract thinking), G10 (disorientation) and G11 (poor attention). The mean total PANSS score was 63.3 ± 16 (mean of positive score = 14.3 ± 4.7; mean of negative score = 18.1 ± 6.3; mean of general score = 30.9 ± 8.5). Executive functions were examined through the Wisconsin Card Sorting Test (WCST), the Hayling Test (Tunisian version) and two semantic verbal fluency tasks (simple with one category “animals” and alternating with two categories “fruits and clothes”). Partial correlations between syndrome scores and cognitive scores were examined while holding the effects of other symptoms, age and education level constant. Severity of disorganisation symptoms correlated with high number of perseverative errors (r = 0.47, P < 0.05) and total errors in the WCST (r = 0.37, P < 0.05) and with reduced score of alternating semantic verbal fluency (r = -0.39, P < 0.05). Severity of both negative and positive dimensions uncorrelated with performance of any of the executive tasks. Also, scores of the Hayling Test (time part B minus time part A; errors part B) and semantic simple verbal fluency (total of correct words) were uncorrelated with symptoms. The present study provides evidence that disorganisation dimension of the PANSS correlates specifically with impaired cognitive flexibility as reflected by high number of perseveration in the WCST and reduced set-shifting in semantic alternating verbal fluency.     

Conscience de soi et conscience de la maladie dans la schizophrénie : relations avec l’anxiété et la dépression

Elevated rates of suicide in schizophrenia lead us to think that a lot of patients can’t cope with such a frightening, disorganizing or apragmatic experience. In contrast, we insist about the frequency of unawareness of illness as a characteristic of the schizophrenic patient, with paradoxically litlle or no effect on suicidal behaviour. Our study tended to precise the links between awareness of illness, anxiety and depression. We also rated self-consciousness, to see if this tendency could be correlated with other variables, and confirm if possible the hypothesis that awareness of illness relies on a broader tendency for self consciousness.In our population of 46 schizophrenic or schizoaffective inpatients, we failed to show any correlation between awareness of illness, anxiety or depression. Moreover, awareness of illness is not correlated with self-consciousness. On the other hand, anxiety and depression are correlated with self-consciousness. A tendency for high self reflection is frequently observed in autistic attitudes but also when the patient is in relation with others. Some patients sometimes feels like if a an “active” and a “reflexive” self were simultaneously present when they speak to others or even when they are doing daily life activities. The consequences are a loss of spontaneity, apragmatism, anxiety and depression. Those data are discussed in regard to phenomenological studies of Bin Kimura and to mescaline experiences described by the writer H. Michaux.