Effectiveness of cognitive training on Lamb-Shaffer syndrome: a case report

Lamb-Shaffer Syndrome (LAMSHF) is a rare neurodevelopmental condition caused by haploinsufficiency of the SOX5 gene, characterized by intellectual disability, language impairments, and executive dysfunctions. Few studies have explored therapeutic interventions for this population. This case report describes the cognitive profile and intervention outcomes of a 20-year-old woman diagnosed with LAMSHF. The patient presented with difficulties in attention, memory, language comprehension, and executive functions. A neuropsychological assessment confirmed mild intellectual disability and specific deficits in working memory, attention, and verbal memory. A cognitive training program was conducted targeting working memory and attention. Post-intervention reassessment revealed improvements in working memory, alternating and divided attention, and verbal long-term memory. These findings suggest that non-pharmacological cognitive training may provide improvements in cognitive functioning for individuals with LAMSHF. Given the scarcity of evidence-based treatments for rare neurodevelopmental syndromes, cognitive training may represent a promising therapeutic alternative.