Initial Somatic Assessment during the Autism Spectrum Disorder Diagnostic Process : A Systematic Review of International Clinical Guidelines

Background: Autism Spectrum Disorders (ASD) are neurodevelopmental disorders highly associated with various somatic conditions that can be hidden by core symptoms of ASD and complicate diagnosis.

Objectives: Identifying co-occuring disorders challenges the best effective health and social care in this population and influence the long-term outcome^1,2. Process of ASD diagnosis have to integrate systematic somatics investigations in order to adjust medical and social supports.

Methods: A systematic review of international clinical guidelines for ASD diagnosis assessment published from 1 January 2005 was performed. Thirteen international guides were selected. We first conducted a quality appraisal selection, according to the Appraisal of Guidelines Research and Evaluation, second edition tool³. Then, we performed a comparative analysis of selected documents on the basis of co-occurring somatic disorders investigations process.

Results: Although the international clinical guidelines are heterogenous in quality (methodological score lies between 33 for the American Academy of Pediatrics clinical report⁴ and up to almost 100 for National Institute for Health and Care Excellence guideline^5,6), they share homogeneous content concerning initial somatic assessment. Somatic disorders described in all guidelines are frequent and achieve consensus. In all guidelines, initial diagnosis processes are mainly recommended to be performed by a multidisciplinary team involving pediatric, neuropediatric and genetic specialists. Clinicals examinations appeared to be base for the assessment of somatic conditions in the guidelines. Systematic genetic investigations are recommended by 40% of the guidelines, and metabolic, electroencephalographic or imaging investigations were mostly recommanded when indicated by the presence of warning signs for clinicians.

Conclusions: In accordance with this results, to perform a systematic and comprehensive initial somatic assessment during the ASD diagnostic process, multiple specialists are required and consensuel warning signs must be screened. In order to help clinicians and coordinate between professionals in the process, an « addressing tool » that could be a coordination tool between professionals would be helpfull. This tool may provide support for a systematic screening that can reinforce epidemiological data on somatics co-occurring disorders in ASD.

Keywords : Autism Spectrum Disorder (ASD); Diagnosis; Comorbidity; Co-occuring condition; Somatic assessment; Guideline.

1. Lai, M.-C., Lombardo, M. V. & Baron-Cohen, S. Autism. Lancet Lond. Engl. 383, 896–910 (2014).
2. Campisi, L., Imran, N., Nazeer, A., Skokauskas, N. & Azeem, M. W. Autism spectrum disorder. Br. Med. Bull. 127, 91–100 (2018).
3. Brouwers, M. C. et al. AGREE II: advancing guideline development, reporting and evaluation in health care. CMAJ Can. Med. Assoc. J. J. Assoc. Medicale Can. 182, E839-842 (2010).
4. Johnson, C. P., Myers, S. M. & American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics 120, 1183–1215 (2007).
5. National Institute for Health and Clinical Excellence. Autism spectrum disorder in under 19s: recognition, referral and diagnosis. (NICE, 2011).
6. National Institute for Health and Clinical Excellence. Surveillance report 2016 – Autism spectrum disorder in under 19s: recognition, referral and diagnosis (2011) NICE guideline CG128 and Autism spectrum disorder in under 19s: support and management (2013) NICE guideline CG170. (NICE, 2016).