[Adaptation and validation of the neurological soft sign's scale of Krebs et al. to children]. / Adaptation et validation d'une échelle des signes neurologiques mineurs chez l'enfant.

BACKGROUND: Neurological soft signs (NSS) include anomalies in motor integration, coordination, sensory integration and lateralization and could be endophenotypic markers in autism spectrum disorders (ASD). Their characterization provides a more precise phenotype of ASD and more homogeneous subtypes to facilitate clinical and genetic research. Few scales for NSS have been adapted and validated in children including children with ASD. Our objective was to perform an adaptation to the child of a scale assessing neurological soft signs and a validation study in both general and clinical populations. METHODS: We have selected the NSS scale of Krebs et al. (2000) already validated in adults. It encompasses 5 dimensions: motor coordination, motor integration, sensory integration, involuntary movement, laterality. After a preliminary study that examined 42 children, several changes have been made to the original version to adapt it to the child and to increase its feasibility, particularly in children with ASD. Then we conducted a validation study by assessing the psychometric properties of this scale in a population of 86 children including 26 children with ASD (DSM 5 Criteria) and 60 typically developing children. Children's ages ranged between 6 and 12 years, and patients and controls were matched for gender, age and intelligence. Patients were assessed using the Autism diagnostic Interview-revised and the Childhood Autism Rating Scale to confirm diagnosis. Typically developing children were assessed using the semi-structured Mini International Neuropsychiatric Interview for Children and Adolescents to eliminate any psychiatric disorder. All children with neurological pathologies (history of cerebral palsy, congenital anomaly of the central nervous system, epilepsy, tuberous sclerosis, neurofibromatosis, antecedent of severe head trauma) and obvious physical deformities or sensory deficits that could interfere with neurological assessment were excluded from the study. Both patients and controls were assessed using the Raven Progressive Matrices to exclude intellectual disability, and the adapted Krebs' scale for the assessment of NSS. RESULTS: Adaptation of the scale consisted of a modification in the order of items, in the use of concrete supports for the assessment of laterality and in the elimination of item constructive praxis. The internal consistency was good with a Cronbach alpha of 0.87. Inter-rater reliability was good, kappa coefficient was greater than 0.75 for 16 items, 3 items had a kappa value between 0.74 and 0.60, only 1 item had a kappa coefficient between 0.4 and 0.59. Good inter-rater reliability was also checked for the total score with a value of intra-class correlation coefficient (ICC) of 0.91. Principal component analysis found five factors accounting for 62.96 % of the total variance. About the comparison between patients and controls, significant differences were found for NSS total score (P=0.000) and all subscores. CONCLUSION: The adaptation for children of the Krebs et al.' NSS scale proved to be valid, especially in children with ASD.

[Impulsivity and externalization and internalization problems in adolescents]. / Impulsivité et problèmes d'internalisation et d'externalisation chez l'adolescent.

OBJECTIVES: The multidimensional aspect of the concept of impulsivity is proven by the composite structure of the rating scales of impulsivity. Several studies have already found correlations between trait-impulsivity and externalizing disorders. However, the studies interested in the relationship between trait-impulsivity and internalizing problems are rare. We have tried to explore correlations between impulsivity and externalization and internalization problems, in a population of adolescent outpatients. METHODS: We recruited 31 adolescent out-patients in the child and adolescent psychiatry department in the University Hospital of Monastir, Tunisia. The Barratt Impulsivity Scale (BIS) was used to evaluate a multidimensional concept of trait-impulsivity, including the dimensions of "Motor", "Non-planning" and "Attentional" impulsivities. The Strength and Difficulties Scales (SDQ) was used to assess different domains of externalizing and internalizing problems, including "Emotional symptoms", "Conduct problems", "Hyperactivity" and "Peer problems". RESULTS: The sex-ratio was 1.21. The mean age was 15.19±1.27 years. All patients but one were attending school. The diagnosis was "Major Depressive Episode" in 32% and "Behavior Disorder" in 38%. The means of the scores of externalizing and internalizing problems were 9.35±4.41 and 9.65±3.26, respectively. The total score of the BIS was significantly related to both scores of externalizing and internalizing problems. The "Motor" impulsivity was specially correlated with the externalizing dimension of the SDQ. The non-planning impulsivity was correlated with both scores of externalizing and internalizing problems, but it was mainly related to internalizing problems. The attentional impulsivity was also correlated with both dimensions of externalizing and internalizing problems. CONCLUSION: The dimensions of trait-impulsivity were correlated with various dimensions of the SDQ concerning externalizing and internalizing problems. That confirms the hypothesis that the impulsiveness is associated with wide domains of the psychopathology of the teenager which are not limited to behavior disorders. We can process these problems by influencing the "Motor impulsivity" and "Non-planning impulsivity". The cognitive and behavioral therapy and the selective serotonin reuptake inhibitor may be efficient.

Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients.

We report on the cytogenetic and molecular characterization of a constitutional de novo ring chromosome 22 (r(22)) in 2 unrelated patients with emphasis on different hypotheses proposed to explain the phenotypic variability characterizing this genomic disorder. In both patients, molecular investigations using FISH and array-CGH techniques revealed a 22q terminal deletion involving the 22q13.33 critical region. The size of the deletion was estimated to at least 1.35 Mb in the first proband and to only 300 kb in the second. They both exhibited the major features of r(22) syndrome, but the first patient was more profoundly affected. He had a more severe phenotype, further complicated by behavioral anomalies, autistic-like features with abnormal EEG pattern and brain MRI profile. Haploinsufficiency of the SHANK3 gene, lying in the minimal critical region, is nowadays considered as responsible for most neurobehavioral anomalies. Nevertheless, phenotypic severity and occurrence of additional features in the first patient suggest a potential involvement of one or more specific gene(s) located proximally to SHANK3 (as PLXNB2, PANX2, ALG12 or MLC1), acting either independently of it or by regulating or promoting its expression and thus disrupting its function when deleted.

[Sero-fibrinous pleurisy and anterior mediastinal mass: a curious association]. / Pleurésie séro-fibrineuse et masse médiastinale antérieure : une association curieuse.

BACKGROUND: Thymic tumors are rare representing 19 % of mediastinal masses. They are associated with several parathymic conditions. The association of thymic tumors with systemic lupus erythematosus has rarely been described. OBSERVATION: We report the case of a 20-year-old woman who presented with a sero-fibrinous bilateral exudative pleural effusion operating in a context of alteration in general status. Diagnosis of systemic lupus erythematosus was made on the basis of the presence of cutaneous symptoms, pleural effusion, hematological abnormalities and strongly positive lupus serology. Otherwise, thoracic imaging revealed a tissue mass in the thymic lodge. A diagnostic thoracothomy was carried out. Histological examination confirmed the diagnosis of thymolipoma. The patient was treated by high-dose corticosteroids combined with synthetic antimalarials. Evolution was initially favorable. Lupus nephritis stage IV occurred a year later justifying immunosuppressive therapy. A complete remission was obtained with this treatment 30months of decline. CONCLUSION: The association between lupus and thymolipoma is exceptional but not accidental. Immunological disorders secondary to the decrease of the thymic function seem to be in the origin of this association.

[Affective temperaments in the bipolar and unipolar disorders: distinctive profiles and relationship with clinical features]. / Tempéraments affectifs dans les troubles bipolaires et unipolaires : comparaison des profils tempéramentaux et relation avec les caractéristiques cliniques.

INTRODUCTION: Recent research postulated that temperaments represent the subclinical foundations of affective disorders, and an early clue for a recurrent, prebipolar disorder. Akiskal et al. operationalized five types of temperaments: depressive, hyperthymic, irritable, cyclothymic and anxious. The aims of this study were to compare the affective temperaments scores in patients with bipolar I, II and recurrent depression disorders and to explore the relation between temperaments scores and clinical features of those affective disorders. METHODS: This was a comparative cross-sectional study, concerning three groups: patients with bipolar I disorder (BIP I) (n=31, 20 men and 11 women, mean age=42.0+/-10.1 years), patients with bipolar II disorder (BIP II) (n=18, 11 men and seven women, mean age=40.7+/-10.8 years) and patients with recurrent depressive disorder (RDD) (n=66, 28 men and 38 women, mean age=45.0+/-9.3 years). All patients were in remission of a major depressive episode. The affective temperaments were assessed by the Akiskal and Mallya Affective Temperament questionnaires. RESULTS: Hyperthymic temperament mean scores were higher in BIP I (10.8+/-5.4) and BIP II (10.3+/-5.5) groups compared to RDD group (5.5+/-4.0) (p<10(-3)). Depressive temperament mean score was significantly higher in RDD group (10.5+/-4.3), compared to BIP I (7.3+/-4.6) and BIP II (5.4+/-2.9) groups (p<10(-3)). Cyclothymic temperament mean score was higher in BIP II group (4.7+/-5.8) compared to BIP I (3.3+/-3.9) and RDD (2.5+/-3.9) groups, but this difference was not significant (p=0.08). No difference was found between the three groups concerning irritable temperament scores. Negative correlation was found between hyperthymic and depressive temperament scores in BIP I (r=-0.81, p<0.001) and RDD (r=-0.73, p<0.001) groups, but not in BIP II group. Concerning the clinical correlates with affective temperament scores, negative correlation was found between hyperthymic temperament score and number of depressive episodes in BIP II group (r=-0.53, p=0.02). Hyperthymic temperament score was associated with psychotic features in the last depressive episode in BIP I (p=0.01) and BIP II (p=0.008) groups and seasonal features in BIP II group (p=0.02). Moreover, cyclothymic temperament score was associated with psychotic (p=0.009) and seasonal features (p=0.03) in BIP II group. CONCLUSIONS: Despite the small sample sizes for our study groups, we can conclude that hyperthymic and cyclothymic temperaments characterized bipolar disorders and are correlated with other markers of bipolarity such as psychotic and seasonal features. Thus, temperament assessment might become a useful tool to predict bipolarity in association with those markers.

[Diogenes syndrome: a transnosographic approach]. / Le syndrome de Diogène, une approche transnosographique.

Diogenes syndrome is a behavioural disorder of the elderly. Symptoms include living in extreme squalor, a neglected physical state and unhygienic conditions. This is accompanied by a self-imposed isolation, the refusal of external help and a tendency to accumulate heteroclite objects. This particular geriatric syndrome has been described for the first time only quite recently, as the 2 primary descriptions by geriatricians and psychiatrists date from 1966 and 1975 respectively. Its rare occurrence contrasts with the fact that it is well-known, partly due to it being named after the Greek philosopher "Diogene de Sinope", who taught cynicism philosophy and a return to a natural way of life, and partly because of its rare characteristics. The Diogenes syndrome is a fascinating object of study for the clinician who takes care of patients living in uncommon conditions, on the edge of society and unaware of the particularity of their lifestyles. Patients suffering from Diogenes syndrome are usually discovered by chance, either because of a somatic illness, or as a result of social intervention related to their behavioural problems. Management of the syndrome is difficult and ethically challenging, as the patient does not seek help. Moreover, 46% of patients have a 5 year mortality rate. Hospitalisation has to be avoided whenever possible and ambulatory treatment and social measures should be favoured. Psychotropic treatment prescription may be necessary, depending on clinical features and the possible underlying psychiatric disease. Although several clinical hypotheses have been suggested, the true ethiopathogeny of the syndrome remains unclear. Most authors agree that this behaviour does not reflect free will and has consequently no theoretical relationship to the Greek philosopher. There is no true consensus about diagnostic criteria. They include the main features of the syndrome and exclude known psychiatric syndromes. Clark and Mankikar, who named this syndrome, reckon it may represent stress-related defence mechanisms of the elderly or may be related to natural ageing process. However, psychiatric pathologies as paranoid and paranoiac psychoses, mood disorders and obsessive and compulsive disorders have been described to be associated with it in the literature. Dementia, in particular temporo-frontal dementia, should be looked for and excluded clinically. Alcohol abuse seems to be an aggravating rather than a precipitating factor. Finally, the link between these pathologies and Diogenes syndrome is not yet determined: are they triggering, co-morbid or etiological factors? Should this syndrome be considered as a true illness or as a symptom? This paper presents Diogenes syndrome as a behavioural disorder and distinguishes 2 types: the "active type"--patients who collect from outside to clutter inside--and the "passive type"--patients who passively become invaded by their rubbish. Active type patients fill their home to fill in the vacuum of their life, as it deteriorates and looses its narcissical appeal. Passive type patients accumulate by default and emptiness. A psychopathological understanding is presented here, referring to psychoanalytical theories of the Moi-peau (ego-skin) described by Anzieu. The Moi-peau represents a structure of the psyche founded on the following principle: any psychic function develops itself according to a bodily function from which it transposes its functioning at a mental level. The skin has three functions: the containing shell, the protective barrier of the psyche, and a medium of exchange. The Moi-peau is organised as a double-wall acting both as a defence mechanism and as a filter between the psyche and the external world. It preserves the relationship and the cohesion "container-content". As a result of a narcissical wound, the Moi-peau is damaged and looses its function of a container. In the case of Diogenes Syndrome, the accumulated items repair the Moi-peau and the home becomes an "exterior-proof", thus playing the role of the Moi-peau. This behaviour therefore plays a repairing role for psychic functioning, allowing psychic survival.