Romuald Blanc

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the Neuroligin family

A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to a premature stop codon in the middle of the sequence of the normal protein and is thought to suppress the transmembrane domain and sequences important for the dimerization of neuroligins that are required for proper cell-cell interaction through binding to beta-neurexins. As the neuroligins are mostly enriched at excitatory synapses, these results suggest that a defect in synaptogenesis may lead to deficits in cognitive development and communication processes. The fact that the deletion was present in both autistic and nonautistic mentally retarded males suggests that the NLGN4 gene is not only involved in autism, as previously described, but also in mental retardation, indicating that some types of autistic disorder and mental retardation may have common genetic origins.

Impairment of a cortical event-related desynchronisation during a bimanual load-lifting task in children with autistic disorder

In autism, the abilities of communication are affected, associated with abnormalities of cognitive, sensorial and motor development. In a previous study based on a load-lifting task, we showed impairment of anticipation in children with autism as evidenced by kinematics and eletromyographic recordings [Neurosci. Lett. 348 (2003) 17]. In the present study, we assessed the cortical counterparts of the use of anticipatory postural adjustments in a group of control children and in a group of children with autism. The tasks required maintaining a stable forearm position despite imposed or voluntary lifting of an object placed either on the controlateral forearm or on a support. We investigated the differences between the two groups of children on the Event-Related Desynchronisation (ERD) which precedes movement onset in adults [Electroencephalogr. Clin. Neurophysiol. 46 (1979) 138]. Electroencephalogram (EEG) power evolution of a 6-8-Hz frequency band was averaged before and after imposed or voluntary movement onset. EEG reactivity of control and autistic children did not differ during the imposed unloading condition, but significant differences appeared in the voluntary unloading situations. Before lifting the object, control children showed an ERD above the left motor areas. An ERD also occurred above the right motor areas when the object was placed on their forearm. This indicates that the ERD can also translate the use of anticipatory postural adjustments. By contrast, children with autism did not show an ERD in the two voluntary situations. This suggests a central deficit of anticipation in both postural and motor control in children with autism.

Quality of life of adolescents with autism spectrum disorders: comparison to adolescents with diabetes

Relationships are of great importance during adolescence. Because of their social, communication and behavioral impairments, adolescents with Asperger’s syndrome (AS) or high functioning autism (HFA) probably suffer from considerable impairment of their quality of life when facing their peers in school. Nevertheless, only one recent study has been published on this subject, indicating a lower health-related quality of life in children and adolescents with autism spectrum disorders (ASD) than in healthy controls. The goals of our study were to clarify the consequences of autistic disorder without mental retardation on such adolescents’ daily lives, and to consider them in comparison with the impact of a chronic somatic disease (diabetes) and with the period of adolescence itself, using the VSP-A questionnaire. Adolescents with diabetes were chosen as a comparison group because of the encumbrance of having a constant need for insulin supplementation, to be assimilated to the constant need for communicative adjustments in teenagers with ASD, and the consequences in daily life. The effects of social skill training and social support on quality of life and the appropriateness of using the VSP-A in this population were also studied. Twenty-six adolescents with AS and HFA, 44 diabetic adolescents, and 250 controls completed a self-administered and validated questionnaire on quality of life, the VSP-A. Scores for adolescents with ASD were significantly lower than those of the control and the diabetic adolescents, especially for friendships, leisure time, and affective and sexual relationships. On the other hand, better scores were obtained for the relationships with parents and teachers and for self-image. Social parameters affected the quality of life of subjects with ASD, such as having friends, regularly participating in a sport, and having the support of a school carer. For subjects with autistic spectrum disorders and without mental retardation, impairment of quality of life is significant in adolescence and young adulthood. Such adolescents are dissatisfied with their relationships, although they often have real motivation to succeed with them. Relevance of VSP-A questionnaire in these special individuals is discussed.

Judgment of blame in teenagers with Asperger's syndrome

ABSTRACT The judgment of blame was studied in a group of 28 teenagers, 14 with Asperger syndrome (AS) and 14 typically developed. Teenagers in each group were matched by age, cognitive development and academic level. They were presented with 12 short vignettes in which they had to judge an action according to the intent of the actor (deliberate and accidental), the consequences of the action (presence and absence) and the seriousness of the situation (low, medium and high). Results showed a significant difference in the patterns of judgment of both groups. The AS group judged the action according to the physical consequence of the action more than the intent of the actor; the opposite was observed with the control group. In addition, the AS teenagers were less capable than the control group of grading injury to a person when apportioning blame especially when they were not familiar with the social situations. This result suggests that the judgement of the seriousness of the outcome of the social interaction is linked with its level of familiarity. Furthermore, result are congruent with the assumption that two different cognitive structures, deontic reasoning and perspective taking, are involved in the judgment of blame.

The social cognitive evaluation battery for children with autism: a new tool for the assessment of cognitive and social development in children with autism spectrum disorders.

The Social Cognitive Evaluation Battery (SCEB) is a new instrument for the psychological evaluation of children with autism. The battery consists of 16 scales that measure different cognitive and socioemotional functions. This study reports the results of a reliability analysis and some elements of validation. Analyses are based on the observed performance of 100 children with autism and a convenience sample of 35 normal children. Validation is based on the examination of the structure of the relations between the 16 scale scores of the SCEB, their relations with other measurements, the correspondence between the theoretical developmental ages, and the observed chronological ages and the SCEBs sensitivity to specific disorders. The results show that this new instrument is useful and relevant for the psychological assessment of children with autism.

Disrupted behaviour in grammatical morphology in French speakers with autism spectrum disorders

ABSTRACT Mixed and inconsistent findings have been reported across languages concerning grammatical morphology in speakers with Autism Spectrum Disorders (ASD). Some researchers argue for a selective sparing of grammar whereas others claim to have identified grammatical deficits. The present study aimed to investigate this issue in 26 participants with ASD speaking European French who were matched on age, gender and SES to 26 participants with typical development (TD). The groups were compared regarding their productivity and accuracy of syntactic and agreement categories using the French MOR part-of-speech tagger available from the CHILDES. The groups significantly differed in productivity with respect to nouns, adjectives, determiners, prepositions and gender markers. Error analysis revealed that ASD speakers exhibited a disrupted behaviour in grammatical morphology. They made gender, tense and preposition errors and they omitted determiners and pronouns in nominal and verbal contexts. ASD speakers may have a reduced sensitivity to perceiving and processing the distributional structure of syntactic categories when producing grammatical morphemes and agreement categories. The theoretical and cross-linguistic implications of these findings are discussed.