Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out. Both patients fulfilled the Pervasive Developmental Disorder criteria on Autism Diagnostic Observation Schedule and Asperger syndrome criteria on Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV). One patient developed early-onset schizophrenia (DSM-IV criteria) with two acute psychotic episodes, the latest one following corticosteroids and sodium valproate intake, with major hyperammonemia. A novel MECP2 gene transversion c.491 G>T [p.(Ser164Ile)] was found in both twins. Pathogenicity of this variant was considered on the basis of strong clinical and molecular data. The underlying molecular basis of neuropsychiatric disorders may have important consequences on genetic counseling and therapeutic strategies.

The French version of the autism-spectrum quotient in adolescents: a cross-cultural validation study.

We assessed the accuracy of the French version of the Autism Spectrum Quotient (AQ) in adolescents with Asperger syndrome (AS) and high-functioning autism (HFA) compared to healthy controls and adolescents with psychiatric disorders (PDs). Three groups of adolescents, aged 11-18, were assessed: 116 with AS/HFA (93 with IQ ≥ 85 and 20 with 70 ≤ IQ < 85), 39 with other PDs, and 199 healthy controls. The AS/HFA group scored significantly higher than the healthy control and PD groups. A cut-off score of 26 was used to differentiate the autism group from healthy controls with 0.89 sensitivity and 0.98 specificity. Scores did not vary by age or sex.

[French version of screening questionnaire for high-functioning autism or Asperger syndrome in adolescent: Autism Spectrum Quotient, Empathy Quotient and Systemizing Quotient. Protocol and questionnaire translation]. / Version française des questionnaires de dépistage de l'autisme de haut niveau ou du syndrome d'Asperger chez l'adolescent : Quotient du spectre de l'autisme, Quotient d'empathie, et Quotient de systématisation. Protocole et traduction des questionnaires.

AIM: No tools are currently available in France, for the detection of autism without mental retardation (high functioning autism and Asperger syndrome here referred as TED SDI). Use of screening tests by first-line clinicians would allow better detection of children who are likely to display such difficulties and to improve patients' care. In England, 3 questionnaires have been evaluated: Autism Spectrum Quotient (AQ), Empathy Quotient (EQ), and Systemizing Quotient (SQ). This is the translation and evaluation of 3 questionnaires in France for TED SDI and control adolescents. METHODS: The translation of the questionnaires into French required two simultaneous translations, two back-translations and two consensus meetings. This is a cross-sectional study comparing scores obtained with the three AQ, EQ and SQ questionnaires. These questionnaires were completed by the parents of four groups of adolescents 11-18 years: 100 TED SDI adolescents (50 with IQ ≥ 85 and 50 with 70≤IQ<85), 50 adolescents with another psychiatric disorder (TP) and 200 control adolescents (T). RESULTS: 580 questionnaires have been sent to 40 recruiting centres. By the 28th of February, 2010, 277 completed questionnaires were received completed (TED SDI: 70 (70%); TP: 25 (50%) et T: 182 (91%)). In the control group, 92 girls (mean 14.4±1.7 years) and 66 boys (14.5±1.7 years) were recruited. In the TED SDI group, 4 girls (14.3±2.4 years) and 42 boys (14.5±1.7 years) were recruited. One girl (81) and 6 boys (72.2±7.7) have an IQ between 70 and 85, and 3 girls (95.3±4.2) and 36 boys (102.9±12) have an IQ higher than 85. In the TP group, 9 girls (15.9±1.7 years) and 4 boys (15.8±1.9 years) were recruited. CONCLUSION: The aim of this study is to make the AQ, EQ and SQ questionnaires available in French for French speaking clinicians. This study will allow a rigorous evaluation of the usefulness of the AQ questionnaire in the screening of TED SDI in adolescents.