[Autism spectrum disorder : a diagnosis for a better support]. / Diagnostic des troubles du spectre autistique, un enjeu pour un meilleur accompagnement des personnes.

Autism spectrum disorders (ASD) are neurodevelopmental disorders at the origin of severe handicap. The clinical expression of these disorders is strongly variable according to the presence of an intellectual deficiency or an associated organic and\or psychiatric disorder. Getting a correct diagnosis of ASD as a child or an adult can help a person and the professionals understand past difficulties, identify his or her strengths, and adapt the right kind of help. A complete diagnosis, realized by a trained multidisciplinary team, allows to define the necessary strategies of global support, in partnership with families. Treatments and services can improve a person's symptoms and ability to function. These characteristics must be regularly assessed in time.

Les troubles du spectre autistique (TSA) sont des troubles neurodéveloppementaux à l'origine d'un handicap le plus souvent sévère. L'expression clinique de ces troubles est très variable en fonction de l'existence d'une déficience intellectuelle ou d'un trouble organique et / ou psychiatrique associé. Les professionnels de santé doivent être sensibilisés aux signes cliniques évocateurs de TSA chez l'enfant et l'adulte afin d'orienter au mieux les familles. Le bilan diagnostique complet, réalisé par une équipe pluridisciplinaire formée, permet de définir les stratégies d'accompagnement adaptées en accord avec les bonnes pratiques cliniques, en partenariat avec les familles. Un programme individualisé, spécifique à la personne, repose sur l'identification des compétences et besoins. Ces caractéristiques doivent être réévaluées régulièrement au cours du temps.

Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.

BACKGROUND: Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these disorders. In this study, we explored the sensory profile of two clinical cohorts, in comparison with a sample of typically developing children. METHODS: Behavioral responses to sensory stimuli were assessed using the Sensory Processing Measure (parent-report questionnaire). We included 121 ASD children, 17 carriers of the 16p11.2 deletion (Del 16p11.2) and 45 typically developing (TD) children. All participants were aged between 2 and 12 years. Additional measures included the Tactile Defensiveness and Discrimination Test-Revised, Wechsler Intelligence Scales and Autism Diagnostic Observation Schedule (ADOS-2). Statistical analyses included MANCOVA and regression analyses. RESULTS: ASD children score significantly higher on all SPM subscales compared to TD. Del16p11.2 also scored higher than TD on all subscales except for tactile and olfactory/taste processing, in which they score similarly to TD. When assessing sensory modulation patterns (hyper-, hypo-responsiveness and seeking), ASD did not significantly differ from del16p11.2. Both groups had significantly higher scores across all patterns than the TD group. There was no significant association between the SPM Touch subscale and the TDDT-R. LIMITATIONS: Sensory processing was assessed using a parent-report questionnaire. Even though it captures observable behavior, a questionnaire does not assess sensory processing in all its complexity. The sample size of the genetic cohort and the small subset of ASD children with TDDT-R data render some of our results exploratory. Divergence between SPM Touch and TDDT-R raises important questions about the nature of the process that is assessed. CONCLUSIONS: Touch and olfaction/taste seem to be particularly affected in ASD children compared to del16p11.2. These results indicate that parent report measures can provide a useful perspective on behavioral expression. Sensory phenotyping, when combined with neurobiological and psychophysical methods, might have the potential to provide a better understanding of the sensory processing in ASD and in other NDD.

Cancer Care of Children, Adolescents and Adults With Autism Spectrum Disorders: Key Information and Strategies for Oncology Teams.

Delivering optimal cancer care to children, adolescents and adults with ASD has recently become a healthcare priority and represents a major challenge for all providers involved. In this review, and after consideration of the available evidence, we concisely deliver key information on this heterogenous group of neurodevelopmental disorders, as well as recommendations and concrete tools for the enhanced oncological care of this vulnerable population of patients.

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.

Impact of the Early Start Denver Model on the cognitive level of children with autism spectrum disorder: study protocol for a randomised controlled trial using a two-stage Zelen design.

INTRODUCTION: Early intervention for autism spectrum disorder (ASD) in the European French-speaking countries is heterogeneous and poorly evaluated to date. Early intervention units applying the Early Start Denver Model (ESDM) for toddlers and young children with ASD have been created in France and Belgium to improve this situation. It is essential to evaluate this intervention for the political decision-making process regarding ASD interventions in European French-speaking countries. We will evaluate the effectiveness of 12 hours per week ESDM intervention on the cognitive level of children with ASD, over a 2-year period. METHODS AND ANALYSIS: The study will be a multicentre, randomised controlled trial, using a two-stage Zelen design. Children aged 15-36 months, diagnosed with ASD and with a developmental quotient (DQ) of 30 or above on the Mullen Scale of Early Learning (MSEL) will be included. We will use a stratified minimisation randomisation at a ratio 1:2 in favour of the control group. The sample size required is 180 children (120 in the control and 60 in the intervention group). The experimental group will receive 12 hours per week ESDM by trained therapists 10 hours per week in the centre and 2 hours in the toddlers' natural environment (alternatively by the therapist and the parent). The control group will receive care available in the community. The primary outcome will be the change in cognitive level measured with the DQ of the MSEL scored at 2 years. Secondary outcomes will include change in autism symptoms, behavioural adaptation, communicative and productive language level, sensory profile and parents' quality of life. The primary analysis will use the intention-to-treat principle. An economic evaluation will be performed. DISSEMINATION: Findings from the study will be disseminated through peer reviewed publications and meetings. TRIAL REGISTRATION NUMBER: NCT02608333 (clinicaltrials.gov); Pre-results.

[Child and adolescent quality of life: study analysis]. / La qualité de vie des enfants et des adolescents: analyse à partir d'enquêtes.

As with adults, the quality of life of children is a multi-dimensional concept, therefore, in theory, evaluations cannot be carried out except by the subject, given the very subjective nature of this procedure. There are obstacles in pediatrics with this postulate, as one would prefer to implement a procedure of evaluation regarding the child's own characteristics in order to determine the cognitive limits of his/her development. We have attempted to summarize this subjective aspect by adapting tools for evaluation suitable for both the child and adolescent. 1) The AUQUEL questionnaire. Targeted to nursery school or primary school children, it consists of a closed scale comprised of thirty-one items: the phases of satisfaction are presented with the use of four aspects which express different emotional conditions. It also includes an open question. 894 French children so far have filled out this questionnaire: 491 from the general population, 403 were evaluated under specific contexts, either organic illnesses, psychological problems, or in the context of social personalities. Differences can be observed, depending on the contexts, in a closed scale or an open question. We will look at the example of a kidney transplant to illustrate our point. 2) The "OKadolescent" questionnaire Similar in structure to an adult questionnaire; it differs, however, by the themes that are adopted to the life and preoccupations of an adolescent. It is made up, as with the questionnaire for children, of a closed scale (26 items), and an open question. Here, 268 adolescents from the general population can be compared with adolescents evaluated in either a somatic or war-zone context. We will take as an example adolescents who have undergone kidney transplants or have suffered from hepatitis, to demonstrate the paradoxical characteristics of the evaluation of the adolescents quality of life. 3) Conclusion Our experience in this domain of the evaluation of a child's quality of life enables us to confirm its feasibility, on the condition of using specific tools, for the clinician (the best representation for the impact of pathology on a child's quality of life), and its relevance as an element for evaluating the needs linked with the health of the given population.

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.

Infant, child and adolescent quality of life: surveys performed in a European context.

The authors have validated three quality of life questionnaires designed to assess mostly subjective aspects of quality of life, in infants (QUALIN questionnaire, a parents' report), children (AUQUEI questionnaire, a pictured self-report for children aged 3-11 years old) and in adolescents (OK.ado questionnaire). Psychometric properties being satisfactory, these questionnaires were completed by different samples, in different health states. We were thus able to detect the influence of several factors on children or adolescents' quality of life: illness tends to alter quality of life, but this is also the case for several psychosociological conditions, especially when combined with the child's age. In adolescents, one has to be careful in interpretation of results, since the healthy adolescent tends to complain to adults.