Reading and Writing in 22q11.2 Syndrome: A Systematic Review

Abstract

22q11.2 deletion syndrome (22q11DS) is a genetic disorder characterized by a wide phenotypic variability, including congenital heart defects, distinctive facial features, short stature, and neurodevelopmental difficulties. From a cognitive perspective, individuals with 22q11DS often present with mild intellectual impairment or borderline functioning, along with deficits in attention, executive functions, and language, which may impact academic achievement.
This systematic review examines reading and writing skills in individuals with 22q11DS, with the aim of identifying characteristic literacy patterns and associated neuropsychological factors. Following PRISMA, 16 studies met the inclusion criteria. Data were analyzed using the COSMIN framework to ensure methodological quality.
Findings reveal a heterogeneous but consistent literacy profile. Reading, particularly word decoding and sight-word recognition, tends to be relatively preserved and often represents a relative strength. However, significant impairments are observed in reading comprehension, especially in tasks requiring inference and integration of information. Writing shows a similar pattern, with greater difficulties in higher-level processes such as planning and coherence. These difficulties are closely linked to deficits in working memory, executive functions, attention, and processing speed.
Overall, results highlight a dissociation between basic and complex literacy processes, emphasizing the need for interventions targeting higher-order cognitive and linguistic skills.