Human brain development is a complex process that requires intricate coordination of multiple cellular and developmental events. Dysfunction of lipid metabolism can lead to neurodevelopmental disorders. Lowe syndrome (LS) is a recessive X-linked disorder associated with proximal tubular renal disease, congenital cataracts and glaucoma, and central nervous system developmental delays. Mutations in OCRL, which encodes an inositol polyphosphate 5-phosphatase, lead to the development of LS. The...

CONCLUSIONS: Identified phenotype in our case was similar as previously described for SCAR2 related conditions. To our knowledge, this is the first reported mutation in PMPCA gene leading to SCAR2 in Saudi Arabia. These findings will enrich the scarce literature, further provide a new insight on the role of PMPCA gene-related disorders leading to SCAR2 and expand the disease concept. In addition, this will help to establish a database for the disease and its causative factors will further help...

CONCLUSIONS AND RELEVANCE: In this longitudinal cohort study of children born MLP, neurodevelopmental challenges persisted into school age. An assessment at age 2 years may assist in identifying children born MLP who are at risk of school-age impairments.

CONCLUSIONS: The battery effectively detects attentional deficits in preterm children. Early detection and targeted insights support tailored educational interventions. By focusing on specific attention skills, the battery guides clinicians in choosing individualized or group activities based on areas most affected.