Neurodevelopmental Profile of a Child With X-linked MSL3 Syndrome.

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Rare Diseases

Background:

• MSL3 gene variants are linked to Basilicata-Akhtar syndrome, a condition typically presenting with developmental delay and multisystem issues.
• Understanding the neurodevelopmental spectrum of this rare syndrome is crucial for accurate diagnosis and management.

Purpose of the Study:

• To present a detailed neurodevelopmental profile of a pediatric patient with MSL3-related Basilicata-Akhtar syndrome.
• To analyze the patient's cognitive strengths and limitations over time, comparing them to other affected individuals and common conditions.

Main Methods:

• Longitudinal case study of a 12-year-old female diagnosed with MSL3 syndrome.
• Comprehensive neurocognitive assessment using standardized tests across multiple domains.
• Multidisciplinary clinical evaluation involving genetics, neurology, and neuropsychology.

Main Results:

• The patient exhibited global developmental delay and motor weaknesses but a less severe clinical presentation than typical for MSL3 syndrome.
• Uneven neurocognitive profile noted, with relative strengths in expressive language, comprehension, and problem-solving.
• Specific limitations identified in motor skills, attention, social interaction, processing speed, and learning.

Conclusions:

• This case highlights the variability in neurodevelopmental outcomes for MSL3 syndrome.
• Serial and detailed assessments are vital for characterizing individual profiles and informing treatment strategies.
• The findings contribute to the understanding of MSL3 syndrome and aid in clinical management planning.