The Psychosocial Approach to Phelan-McDermid Syndrome and Perspectives on Intervention

Abstract

Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder frequently associated with deletions or other genetic alterations involving the 22q13 region of chromosome 22, with a particular role attributed to the SHANK3 gene in explaining some of its developmental and functional characteristics. The syndrome is characterized by substantial variability in cognitive, communicative, behavioral, and adaptive functioning, making it difficult to reduce its presentation to a single clinical profile. Its impact extends beyond medical and developmental manifestations to affect communication, social interaction, family relationships, and participation in everyday life.

This study examines Phelan-McDermid syndrome from a psychosocial perspective, focusing on selected cognitive, emotional, behavioral, and adaptive characteristics, as well as the implications of communication and social interaction difficulties for the individual's daily life. Particular attention is given to the role of the family, quality of life, and social participation within the intervention process. The study adopts a descriptive-analytical approach based on a review of the scientific literature on Phelan-McDermid syndrome, complemented by relevant literature on augmentative and alternative communication, functional behavior assessment, quality of life, and support for individuals with neurodevelopmental disorders.

The review indicates that the substantial variability observed across individuals calls for an individualized approach rather than a stereotyped understanding of the syndrome. Assessment should focus on the person's actual abilities and needs, while intervention should promote functional communication, adaptive and social skills, contextual understanding of behavior, and meaningful family involvement in goal setting. Educational and social environments should likewise be adapted to facilitate participation and autonomy. Accordingly, an appropriate intervention framework should combine individualized assessment with multidisciplinary practice and place both the individual and the family at the center of care, while recognizing the limited number of syndrome-specific intervention studies and the need for further research.