AUTHOR=Serrada-Tejeda Sergio , Martínez-Piédrola Rosa M. , Máximo-Bocanegra Nuria , Sánchez-Herrera-Baeza Patricia , Pérez-de-Heredia-Torres Marta 

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

JOURNAL=Frontiers in Neuroscience

VOLUME=16

YEAR=2022

URL=https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2022.893003

DOI=10.3389/fnins.2022.893003

ISSN=1662-453X

ABSTRACT=<sec><title>Introduction</title><p>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.</p></sec><sec><title>Methods</title><p>A descriptive analysis of the level of adaptive behavior in 50 patients diagnosed with PMS was performed (<italic>SHANK3</italic><sub>deletion</sub>: <italic>N</italic> = 44<italic>; SHANK</italic><sub><italic>mutation</italic></sub>: <italic>N</italic> = 6). Subsequently, a comparative analysis was performed with 28 children aged between 4 years and 6 years and 11 months (<italic>SHANK3</italic><sub>deletion</sub> = 14; ASD = 14). Differences between the two groups were evaluated and Bonferroni correction was applied for multiple comparisons.</p></sec><sec><title>Results</title><p>Differences were identified in the variables of communication (<italic>z</italic> = −2.715, <italic>p</italic> = 0.007), Self-Direction (<italic>z</italic> = −2.199, <italic>p</italic> = 0.028) and social participation (<italic>z</italic> = −3.190, <italic>p</italic> = 0.001), with better adaptive behavior skills being observed in participants with a SHANK3<sub><italic>mutation</italic></sub>. Better adaptive skills in the sample of participants with <sub><italic>ASD</italic></sub>, were found and statistically significant differences were identified in the variables of academic skills (<italic>z</italic> = −3.084, <italic>p</italic> = 0.002), use of community resources (<italic>z</italic> = −1.889, <italic>p</italic> = 0.050) and health and safety (<italic>z</italic> = −2.90, <italic>p</italic> = 0.004).</p></sec><sec><title>Conclusion</title><p>Participants with <italic>SHANK3</italic><sub><italic>mutation</italic></sub> show better communication and social participation skills than those with a diagnosis of <italic>SHANK3</italic><sub>deletion</sub>. 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.</p></sec>