Approche neuropédiatrique de l'autisme Cuisset, J.-M.; Joriot, S.; Auvin, S. ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie,
12/2005, Letnik:
12, Številka:
12
Journal Article
Recenzirano
L'autisme se définit par l'association, débutant avant 3 ans, d'une déficience qualitative des interactions sociales réciproques, d'une déficience de la communication verbale et non verbale, et d'une ...déficience des activités imaginatives. L'exploration neuropédiatrique de l'autisme est centrée sur la recherche d'une cause organique sous-jacente, notamment s'il existe des arguments en faveur d'une encéphalopathie associée : antécédents anté- ou périnatals, signes dysmorphiques, tâches cutanées, anomalies neurologiques, anomalies de l'examen somatique compatibles avec une maladie neurométabolique. Les principales causes d'un autisme déficitaire sont : les aberrations chromosomiques, les syndromes monogéniques dont le syndrome de l'X fragile, les syndromes neurocutanés, les encéphalopathies épileptiques, les maladies neurométaboliques, les dystrophinopathies. L'identification d'une affection organique sous-jacente à l'autisme est essentielle dans l'éventualité d'un conseil génétique ; de plus, cette démarche concourt à la modification de la perception de l'autisme dans le milieu familial.
Autism is defined by 3 main criteria: disturbance of reciprocal social interaction, disturbance of communication (including language comprehension and spoken language) and disturbance of normal variation in behaviour and imaginative activities; an onset before age 36 months is also required. The neuropediatric contribution to autism is dominated by the search for an underlying organic etiology, especially if there are arguments for an associated encephalopathy: ante- or perinatal medical history, dysmorphic signs, skin spots, neurological abnomalities, somatic abnomalities compatible with a neurometabolic disorder. The main associated conditions with autism are: chromosome anomalies, monogenic syndrome (including fragile X syndrome), neurocutaneous syndromes, epileptic encephalopathies, neurometabolic diseases, and dystrophinopathies. The identification of an associated medical condition to autism is primordial in prospect of genetic counselling, and by the change induced in familial perception of autism.
Apport de la génétique à la compréhension de l'autisme Demonceau, N.; Roubertie, A.; Cheminal, R. ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie,
10/2005, Letnik:
12, Številka:
10
Journal Article
Recenzirano
L'autisme est un trouble envahissant du développement caractérisé par un déficit dans les interactions sociales et dans la communication associé à un comportement restreint, répétitif et stéréotypé. ...Les facteurs génétiques sont déterminants dans la genèse de l'autisme, l'environnement n'étant, contrairement à ce que l'on soutenait auparavant, qu'un facteur modulant le phénotype. Le polymorphisme génétique et l'hétérogénéité phénotypique rendent cette affection difficile à étudier sur le plan génétique. C'est au travers d'études génétiques portant sur les familles de patients autistes, ainsi que sur les mécanismes biochimiques sous-jacents que l'on parvient actuellement à identifier des gènes de susceptibilité à l'autisme.
Autism is a pervasive developmental disorder characterised by an impairment in social interaction and in communication, with unusual behaviour. Genetic factors are predominent in autism pathogenesis, in contrast with the environmental factors that would modulate the phenotype. The genetic polymorphism and the phenotypic heterogeneity make the autism a complex disorder to study. Genetic research on families with multiple affected children and biochemical mechanisms studies represent the sources for identifying the susceptibility genes in autism.
In the present study, differential response procedures were used with sample and comparison stimuli in an attempt to facilitate acquisition of matching-to-sample tasks in 2 elementary school pupils ...with autistic disorders. In Study 1, in which differential response procedures were used, one of the students was taught matching to sample with pictures and printed words as stimuli. The results showed that differential responses to the comparison stimuli facilitated the student's matching performance. In contrast, when differential response procedures were used with the samples, facilitative effects were not found. In Study 2, in which differential response procedures were also used, the other pupil was taught category matching-to-sample tasks. The pupil acquired category matching only when the differential response procedure was used with both samples and comparisons. The results of both studies relate to the emergence of 2-component discriminations in matching-to-sample, that is, a successive discrimination between samples, and a simultaneous discrimination between comparisons.
This case report presents a thirteen year-old boy who was diagnosed as having Hypomelanosis of Ito. The developmental history includes severe failure to thrive, and moderate atypical autism as well ...as diverse clinical and neuropsychological symptoms are present. The pattern of neuropsychological functioning, which can be partially related to the neurophysiological findings, is discussed within the context of existing neuropsychological theories about autistic disorders.
Les auteurs soulignent l’intérêt récent pour le vécu des frères et sœurs d’un enfant atteint d’un handicap dans le domaine mental et plus particulièrement dans les troubles autistiques. Ils décrivent ...la fonction de la fratrie dans le développement psychique du sujet. Ils analysent dans le domaine du handicap mental en général, les différents facteurs influençant la vie de la fratrie, en fonction de la composition de la fratrie, du type de handicap et du vécu parental. Ils soulignent certaines caractéristiques plus spécifiques au domaine de l’autisme. À partir de leur travail clinique et en s’appuyant sur des études scientifiques, ils tentent de décrire les différentes manières de réagir de la fratrie, se situant selon eux entre deux pôles : la résilience ou l’absorption psychique des membres de la famille par le handicap, qui compromet la santé mentale. Entre ces deux extrêmes, ils décrivent des adaptations plus ou moins réussies. Ils concluent par l’importance qu’il y a à tenir compte de la présence des frères et sœurs dans tout type de prise en charge d’un enfant atteint d’un handicap mental ou d’un trouble autistique.
The authors underline the recent interest for the psychic life experience of siblings of children with mental disabilities in particular for autistic disorders. They describe the sibling’s function in the subject’s psychic development. They analyse in the domain of mental disabilities in general, the different factors influencing the sibling’s life: composition of the brotherhood, type of disabilities and parental psychic life experience. They underline certain characteristics more specific of autistic disorders. Based on their clinical practice and on scientific studies, they try to describe the different sibling’s reactions. They define two main thrusts: resiliency and mental health troubles. Between these thrusts, they describe a wide range of, more or less successful, adaptations. They conclude by the importance to take into account the presence of brothers and sisters in all kind of therapeutic work of child with mental disabilities or autistic disorders.
PURPOSE: To extend previous research in the development of idiom comprehension by investigating this ability in children with Asperger Syndrome (AS) or with High Functioning Autism (HFA). METHODS: ...Three groups participated in the study. The first group consisted of 27 children with AS/HFA (mean age 11.3 years) and the other two consisted of typically developing children and adults, respectively. The Comprehension Test of Idiomatic Phrases (CTIP) was administered to all participants. RESULTS: Children with AS/HFA had lower performance compared to the other two groups. No difference was found in the performance between the two typically developing groups. Also, there was no significant correlation between the IQ and the performance for the children with AS/HFA, while positive correlations were revealed between performance and age for the two groups of children. CONCLUSION: The results provide further evidence that children with AS/HFA have difficulties in understanding idioms and they confirm their tendency to make literal interpretations. These impairments are irrelevant to their intelligence and they affect their communication with others. The understanding of these difficulties is important in order to find ways to limit the confusion and the misinterpretations which are observed during the communicative acts with this clinic group.OBJETIVO: Ampliar pesquisas anteriores a respeito do desenvolvimento da compreensão de expressões idiomáticas por meio da investigação dessa habilidade em crianças com síndrome de Asperger (AS) ou com autismo de alto funcionamento (HFA). MÉTODOS: Três grupos participaram do estudo. O primeiro grupo era composto por 27 crianças com AS/HFA (média de idade 11 anos e 3 meses) e os outros dois eram constituídos, respectivamente, por crianças em desenvolvimento típico e adultos. O Teste de Compreensão de Expressões Idiomáticas (CTIP) foi aplicado a todos os participantes. RESULTADOS: Crianças com AS/HFA tiveram desempenho inferior ao dos participantes dos outros dois grupos. Nenhuma diferença foi observada no desempenho dos dois grupos típicos. Também não houve correlação significativa entre o QI e o desempenho de crianças com AS/HFA, enquanto foram observadas correlações positivas entre a performance e a idade para nos dois grupos de crianças. CONCLUSÃO: Os resultados oferecem mais evidências de que crianças com AS/HFA tem dificuldades para compreender expressões idiomáticas e confirmam sua tendência a fazer interpretações literais. Essas dificuldades são irrelevantes para sua inteligência, mas afetam sua comunicação com outros. A compreensão dessas dificuldades é importante para a identificação de mecanismos para diminuir as confusões e mal entendidos observados nos atos comunicativos desse grupo.
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