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

The 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.

A descriptive analysis of the level of adaptive behavior in 50 patients diagnosed with PMS was performed (SHANK3 _deletion: N = 44; SHANK : N = 6). Subsequently, a comparative analysis was performed with 28 children aged between 4 years and 6 years and 11 months (SHANK3 _deletion = 14; ASD = 14). Differences between the two groups were evaluated and Bonferroni correction was applied for multiple comparisons.

Differences 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 SHANK3 . Better adaptive skills in the sample of participants with , 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).

Participants with SHANK3 show better communication and social participation skills than those with a diagnosis of SHANK3 _deletion. 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.