Abstract
The main objective of this case report is to make a proposal for a specialized neurocognitive assessment battery designed to evaluate critical cognitive domains in Spanish-speaking adults with Phelan-McDermid syndrome (PMS). This battery includes measures for language processing, tactile perception, executive function, and adaptive behavior, providing a structured framework for assessing neurocognitive functioning in this population. PMS is a rare neurodevelopmental disorder caused by deletions or mutations in chromosome 22q13.33, leading to SHANK3 haploinsufficiency. This genetic alteration results in a range of clinical manifestations, including severe intellectual disability, profound language impairment, hypotonia, seizures, sensory abnormalities, and autistic traits. PMS presents significant challenges in neurocognitive assessment, particularly in Spanish-speaking adults, due to the absence of standardized diagnostic tools adapted to their needs. This case report describes a 29-year-old Spanish-speaking woman, genetically confirmed to have PMS due to a 22q13.33 deletion affecting 28 genes, including SHANK3. Her developmental history included early hypotonia, global developmental delays, limited language acquisition, and difficulties in adaptive behavior. A comprehensive neuropsychological evaluation was conducted using the Peabody Picture Vocabulary Test-III, Battelle Developmental Inventory, Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A), Adaptive Behavior Assessment System-II, Programa Integrado de Exploración Neuropsicológica Test Barcelona-2 (PIEN-2) subscales, and Ekman and Friesen Adapted Test. The results revealed severe impairments in expressive language, phonological discrimination, and tactile perception. The patient exhibited significant difficulties in recognizing emotions, particularly fear, sadness, and neutral expressions. Adaptive behavior assessments indicated profound deficits in conceptual, social, and practical domains, although executive functioning, as reported by caregivers, appeared preserved within a structured environment. This study highlights novel findings regarding phonological discrimination deficits and impaired facial emotion recognition in PMS, aspects that have been underexplored in previous research.