Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena

Background Individuals with Phelan-McDermid syndrome (PMS) present a wide range of diagnoses: autism spectrum disorder, intellectual disability, or schizophrenia. Differences in the genetic background could explain these different neurodevelopmental trajectories. However, more parsimonious hypothesis is to consider that they may be same phenotypic entity. Catatonic disturbances occasionally reported from adolescence onwards PMS prompts exploration this clinical entity an early-onset form catatonia. The largest cohort children childhood catatonia was studied by Wernicke-Kleist-Leonhard school (WKL school), which regards as collection qualitative abnormalities psychomotricity predominantly affecting involuntary motricity (reactive and expressive). aim study investigate presence psychomotor signs three young adults carrying mutation intragenic deletion SHANK3 gene through prism WKL conception Methods This designed exploratory case study. Current phenomena were investigated semi-structured interviews parents, direct interaction participants, documents reporting observations participants at other healthcare professionals. Results findings show catatonic manifestations evolved into chronic form, possible phases sub-acute exacerbations starting adolescence. Conclusion symptoms associated autistic traits leads us singular fundamentally related mutations Further studies are needed confirm our observations.