RESUMO
(1) Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is highly associated with various somatic conditions that can be masked by the core symptoms of ASD and thus complicate the diagnosis. Identifying co-occurring somatic disorders is critical for providing effective healthcare and social services for ASD populations and influences their long-term outcomes. A systematic assessment of co-occurring somatic conditions is essential during this ASD diagnostic process. Therefore, this study aimed to identify the organization and content of the initial somatic assessment (ISA). (2) Methods: We conducted a systematic review of the clinical practice guidelines (CPG) for the ASD diagnostic process published between January 2005 and December 2019 in English and French and performed an appraisal following the Appraisal of Guidelines Research and Evaluation, second edition (AGREE-II). (3) Results: We selected 14 CPGs that were heterogeneous in quality, with methodological scores between 32.3 and 91.9. Clinical examinations are the first step in the ISA, and the participation of pediatric, neuropediatric, and genetic specialists was highly recommended by the majority of the CPGs. The recommendations included hearing screening tests (10/14), visual examinations (8/14), and systematic genetic investigations (4/14). The CPGs also described additional investigations that should be conducted based on numerous warning signs. (4) Conclusions: Screening for consensual international warning signs is necessary to perform a comprehensive and systematic ISA during the ASD diagnostic process. A "referral form" could be used to guide clinicians and improve the coordination process. This tool may reinforce epidemiological data on co-occurring somatic disorders in patients with ASD.
RESUMO
INTRODUCTION: Intervention in the preschool period is currently recommended for autism spectrum disorder. Therapies delivered by parents are particularly suitable for young children. Preschool Autism Communication Trial (PACT) is a parent-mediated therapy that has shown a significant and sustained impact on autism symptom reduction. However, access to such evidence-based therapies for families is limited due to autism centres located in large urban areas. Using videoconferencing to deliver PACT training to parents may improve accessibility for families living in underserved areas. METHODS AND ANALYSIS: This single-blind randomised controlled trial, involving six sites in France, will investigate the efficacy of a telehealth, videoconferencing-based, parent-mediated PACT therapy on autism symptoms, over a 12-month period. It will compare PACT plus treatment as usual (TAU) against TAU only in a cohort of 238 toddlers (119 per group) aged 18-36 months at inclusion and living with their families more than 40 min away from the specialist centres for autism. Primary outcome will include change of overall autism score on the Autism Diagnostic Observation Scale (ADOS) at 12 months. Secondary outcomes will measure change in child skills, child functioning, impact on parents (stress, health, priorities) and implementation characteristics. Repeated measures analyses will be used to test the effect of PACT intervention on the overall ADOS module 1 score over the 12-month study period. Linear mixed models will be used with time, treatment allocation and the interaction between treatment and time as fixed effects and individual variation as random effect. ETHICS AND DISSEMINATION: This protocol (V.5, date: 25 October 2019) is approved by the French National Review Board (reference no 2018-A02516-49). The results will be disseminated via peer-reviewed journals TRIAL REGISTRATION NUMBER: NCT04244721.