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.
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.
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.
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.
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.
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.
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.
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.
IntroductionEarly 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 analysisThe 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.DisseminationFindings from the study will be disseminated through peer reviewed publications and meetings.Trial registration numberNCT02608333 (clinicaltrials.gov); Pre-results.
: A cross‐sectional study was performed to assess quality of life (QoL) after kidney or liver transplantation during childhood. Self‐questionnaires explored children, adolescent and parent QoL. ...Seventy‐five transplant children, 36 transplant adolescents, 67 mothers, 34 fathers and 67 caregivers filled out the questionnaires; they were compared with a reference population. Children reported a rather good QoL, but their extra‐family involvement appeared not as satisfactory as that of the reference population children. Adolescents reported a very high QoL when completing the structured format scale; however, their responses to open‐ended questions showed qualitative differences compared with those of a reference population: they expressed concern about their body or health, less pleasure than ordinary adolescents to manage by themselves, and a poor relationship with peers. Mothers indicated a deep impact of the child's illness on their own QoL, and the need for psychological support. In conclusion, a rather good QoL is a long‐lasting feature of kidney and liver transplantation in children. Such an assessment is mandatory to identify remaining impairments in some selected areas, either in the recipient or family.
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.
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.
Aucun outil n’est disponible en France pour le dépistage des troubles du spectre de l’autisme sans déficience intellectuelle (« Autisme de Haut Niveau » ou Syndrome d’Asperger, ici nommés « TED ...SDI »). L’utilisation de test de dépistage par des cliniciens « de première ligne » permettrait de mieux détecter les enfants susceptibles d’avoir de tels troubles et d’améliorer leur prise en charge. Au Royaume-Uni, 3 questionnaires ont été évalués : Quotient du spectre de l’autisme (AQ), Quotient d’empathie (EQ), et Quotient de systématisation (SQ). Nous avons traduit ces 3 questionnaires et proposons leur méthode d’évaluation en France auprès d’adolescents TED SDI et d’adolescents témoins.
La traduction du questionnaire en français a nécessité deux traductions simultanées, deux rétro-traductions et deux réunions d’harmonisation. Il s’agit d’une étude transversale comparant les scores obtenus avec les trois questionnaires AQ, EQ et SQ remplis par les parents de 4 groupes d’adolescents : 100 adolescents TED SDI (50 avec QI
≥
85 et 50 avec 70
≤
QI
<
85), 50 adolescents ayant un autre trouble psychiatrique (TP), et 200 adolescents témoins (T).
Au total, 580 questionnaires ont été envoyés à 40 centres recruteurs en date du 28/02/2010 et 277 questionnaires ont été reçus : TED SDI : 70 (70 %) ; TP : 25 (50 %) et T : 182 (91 %).
Dans le groupe témoin, 92 filles (moyenne 14,4
±
1,7 ans) et 66 garçons (14,5
±
1,7 ans) ont été enregistrés avec des données validées et saisies. Dans le groupe TED SDI, 4 filles (14,3
±
2,4 ans) et 42 garçons (14,5
±
1,7 ans) ont été recrutés. Une fille (81) et 6 garçons (72,2
±
7,7) ont un QI compris entre 70 et 85 et 3 filles (95,3
±
4,2) et 36 garçons (102,9
±
12) ont un QI supérieur à 85. Dans le groupe TP, 9 filles (15,9
±
1,7 ans) et 4 garçons (15,8
±
1,9 ans) ont été recrutés.
L’objectif de cette étude est de mettre à disposition en français les questionnaires AQ, EQ et SQ pour les cliniciens francophones. Cette étude permettra d’évaluer avec rigueur l’intérêt du questionnaire AQ pour le dépistage des TED SDI chez les adolescents.
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.
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).
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.
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.
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