The Impact of Atypical Sensory Processing on Adaptive Functioning and Maladaptive Behaviors in Autism Spectrum Disorder During Childhood: Results From the ELENA Cohort.

Atypical sensory processing is common in autism spectrum disorders (ASD), but their role in adaptive difficulties and problem behaviors is poorly understood. Our aim was to determine the prevalence and type of atypical sensory processing in children with ASD and investigate its impact on their adaptive functioning and maladaptive behaviors. We studied a subsample of 197 children rigorously diagnosed with ASD from the ELENA cohort. Children were divided into atypical and typical sensory processing groups and several independent variables were compared, including adaptive functioning and maladaptive behaviors. Overall, 86.8% of the children had at least one atypical sensory pattern and all sensory modalities were disturbed. Atypical sensory processing explained a significant part of the variance of behavioral problems.

Investigating the natural history and prognostic factors of ASD in children: the multicEntric Longitudinal study of childrEN with ASD - the ELENA study protocol.

INTRODUCTION: There is global concern about the increasing prevalence of autism spectrum disorders (ASDs), which are early-onset and long-lasting disorders. Although ASDs are considered to comprise a unique syndrome, their clinical presentation and outcome vary widely. Large-scale and long-term cohort studies of well-phenotyped samples are needed to better understand the course of ASDs and their determinants. The primary objective of the multicEntric Longitudinal study of childrEN with ASD (ELENA) study is to understand the natural history of ASD in children and identify the risk and prognostic factors that affect their health and development. METHODS AND ANALYSIS: This is a multicentric, longitudinal, prospective, observational cohort in which 1000 children with ASD diagnosed between 2 and 16 years of age will be recruited by 2020 and followed over 6 years. The baseline follow-up starts with the clinical examination to establish the ASD diagnosis. A battery of clinical tools consisting of the Autism Diagnostic Observation Schedule, the revised version of the Autism Diagnostic Interview, measures of intellectual functioning, as well as large-scale behavioural and developmental measurements will allow us to study the heterogeneity of the clinical presentation of ASD subtypes. Subsequent follow-up at 18 months and at 3, 4.5 and 6 years after the baseline examination will allow us to explore the developmental trajectories and variables associated with the severity of ASD. In addition to the children's clinical and developmental examinations, parents are invited to complete self-reported questionnaires concerning perinatal and early postnatal history, congenital anomalies, genetic factors, lifestyle factors, medical and psychiatric comorbidities, and the socioeconomic environment. As of 1 November 2018, a total of 766 participants have been included. ETHICS AND DISSEMINATION: Ethical approval was obtained through the Marseille Mediterranean Ethics Committee (ID RCB: 2014-A01423-44), France. We aim to disseminate the findings through national and international conferences, international peer-reviewed journals, and social media. TRIAL REGISTRATION NUMBER: NCT02625116; Pre-results.

Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports.

BACKGROUND: Phelan-Mc Dermid syndrome is a contiguous disorder resulting from 22q13.3 deletion implicating the SHANK3 gene. The typical phenotype includes neonatal hypotonia, moderate to severe intellectual disability, absent or delayed speech, minor dysmorphic features and autism or autistic-like behaviour. Recently, point mutations or micro-deletions of the SHANK3 gene have been identified, accompanied by a phenotype different from the initial clinically description in Phelan McDermid syndrome. CASE PRESENTATION: Here we present two case studies with similar psychiatric and genetic diagnosis as well as similar clinical history and evolution. The two patients were diagnosed with autism spectrum disorders in childhood and presented regression with catatonia features and behavioural disorders after a stressful event during adolescence. Interestingly, both patients presented mutation/microdeletion of the SHANK3 gene, inducing a premature stop codon in exon 21. Different pharmacological treatments (antipsychotics, benzodiazepines, mood stabilizer drugs, antidepressants, and methylphenidate) failed to improve clinical symptoms and lead to multiple adverse events. In contrast, lithium therapy reversed clinical regression, stabilized behavioural symptoms and allowed patients to recover their pre-catatonia level of functioning, without significant side effects. CONCLUSION: These cases support the hypothesis of a specific SHANK3 phenotype. This phenotype might be linked to catatonia-like deterioration for which lithium use could be an efficient treatment. Therefore, these cases provide an important contribution to the field of autism research, clinical genetics and possible pharmacological answers.

Facing the challenge of teaching emotions to individuals with low- and high-functioning autism using a new Serious game: a pilot study.

BACKGROUND: It is widely accepted that emotion processing difficulties are involved in Autism Spectrum Conditions (ASC). An increasing number of studies have focused on the development of training programs and have shown promising results. However, most of these programs are appropriate for individuals with high-functioning ASC (HFA) but exclude individuals with low-functioning ASC (LFA). We have developed a computer-based game called JeStiMulE based on logical skills to teach emotions to individuals with ASC, independently of their age, intellectual, verbal and academic level. The aim of the present study was to verify the usability of JeStiMulE (which is its adaptability, effectiveness and efficiency) on a heterogeneous ASC group. We hypothesized that after JeStiMulE training, a performance improvement would be found in emotion recognition tasks. METHODS: A heterogeneous group of thirty-three children and adolescents with ASC received two one-hour JeStiMulE sessions per week over four weeks. In order to verify the usability of JeStiMulE, game data were collected for each participant. Furthermore, all participants were presented before and after training with five emotion recognition tasks, two including pictures of game avatars (faces and gestures) and three including pictures of real-life characters (faces, gestures and social scenes). RESULTS: Descriptive data showed suitable adaptability, effectiveness and efficiency of JeStiMulE. Results revealed a significant main effect of Session on avatars (ANOVA: F (1,32) = 98.48, P < .001) and on pictures of real-life characters (ANOVA: F (1,32) = 49.09, P < .001). A significant Session × Task × Emotion interaction was also found for avatars (ANOVA: F (6,192) = 2.84, P = .01). This triple interaction was close to significance for pictures of real-life characters (ANOVA: F (12,384) = 1.73, P = .057). Post-hoc analyses revealed that 30 out of 35 conditions found a significant increase after training. CONCLUSIONS: JeStiMulE appears to be a promising tool to teach emotion recognition not only to individuals with HFA but also those with LFA. JeStiMulE is thus based on ASC-specific skills, offering a model of logical processing of social information to compensate for difficulties with intuitive social processing. TRIAL REGISTRATION: Comité de Protection des Personnes Sud Méditerranée V (CPP): reference number 11.046 (https://cpp-sud-mediterranee-v.fr/).