Descriptive Analysis of Adaptive Behavior in Phelan–McDermid Syndrome and Autism Spectrum Disorder

Abstract

IntroductionThe variety in symptomatology and clinical presentation of individuals diagnosed with Phelan-McDermid Syndrome (PMS) can delay medical diagnosis, so identifying specific neurobehavioral variables and facilitating differential diagnosis with patients with idiopathic Autism Spectrum Disorder (ASD) can guide early detection.MethodsA descriptive analysis of the level of adaptive behavior in 50 patients diagnosed with PMS was performed (SHANK3deletion: N = 44; SHANKmutation: N = 6). Subsequently, a comparative analysis was performed with 28 children aged between 4 years and 6 years and 11 months (SHANK3deletion = 14; ASD = 14). Differences between the two groups were evaluated and Bonferroni correction was applied for multiple comparisons.ResultsDifferences were identified in the variables of communication (z = −2.715, p = 0.007), Self-Direction (z = −2.199, p = 0.028) and social participation (z = −3.190, p = 0.001), with better adaptive behavior skills being observed in participants with a SHANK3mutation. Better adaptive skills in the sample of participants with ASD, were found and statistically significant differences were identified in the variables of academic skills (z = −3.084, p = 0.002), use of community resources (z = −1.889, p = 0.050) and health and safety (z = −2.90, p = 0.004).ConclusionParticipants with SHANK3mutation show better communication and social participation skills than those with a diagnosis of SHANK3deletion. The observed differences between ASD and individuals with PMS reflect deficits in practical and conceptual adaptive skills that may limit and hinder daily adaptive functioning.