Understanding Behavior in Phelan-McDermid Syndrome

• DOI: 10.3389/fpsyt.2022.836807
• Publication Date: 2022-05-26T05:14:11Z
• Authors: Annemiek M. Landlust; Linda Visser; Boudien C. T. Fla...; Selma A. J. Ruiter; Renée J. Zwanenburg; Conny M. A. van R...; Ingrid D. C. van ...
• Keywords: CBCL; Psychiatry; 0301 basic medicine; behavioral difficulties; DELETION SYNDROME; PSYCHOPATHOLOGY; RC435-571; CHILDREN; contextual assessments; Psychiatry and Mental health; 03 medical and health sciences; 22q13 deletion syndrome; intellectual disability; UPDATE; Phelan-McDermid syndrome; AUTISM; neurodevelopmental phenotype; 10. No inequality

Background Phelan-McDermid syndrome (PMS) or 22q13.3 deletion is a rare genetic disorder characterized by developmental delay, hypotonia and severely delayed speech. Behavioral difficulties are often reported in PMS, although knowledge of behavioral profiles the interpretation behavior remains limited. Understanding meaning requires considering context as well other domains functioning, for example individual's level cognitive, social emotional development. Combining structured direct in-person neurodevelopmental assessments with contextual to enable meaningful interpretations on functional dimensions across multiple units analysis, proposed RDoc framework, essential. Methods In this article we present multidisciplinary method assessment through factors. Our study sample includes data 33 children an average age 6.2 years (range 1.1 15.7) obtained individual combination parent informed questionnaires. We assessed using Bayley-III, adaptive was Vineland screener, social-emotional development ESSEON-R CBCL. Results results show great deal variability phenotypic presentation regard behavior, symptom expression severity individuals PMS. The interpreted (genetic) context. showed high levels withdrawn attention problems. More than half borderline clinical symptoms related Autism Spectrum Disorder (ASD). Conclusions certain PMS based questionnaires descriptions without taking specific into account. measuring different functioning should be considered more accurate interpret findings order understand disorders associated delay such Direct provides valuable information relevant understanding inform treatment increase phenotype application frameworks desirable making useful interpretations.