Neurodevelopmental Profile of a Child With X-linked MSL3 Syndrome

Genetic variants in MSL3 lead to Basilicata-Akhtar syndrome, typically characterized by developmental delay and other multisystem symptoms. Here we report on the neurodevelopmental profile of a 12-year-old female who was diagnosed and followed over a period of years by a multidisciplinary team of clinicians in medical genetics, neurology, neuropsychology, and other specialties. The patient underwent a battery of standardized tests to comprehensively assess her functioning at various ages. She had global developmental delay, pervasive motor weaknesses, and specific concomitant medical issues, but her overall clinical presentation was less severe than that of other individuals with MSL3 syndrome. Since she did not exhibit substantial global impairment, we will discuss the nuances of her neurocognitive profile, including uneven strengths (eg, expressive language, comprehension, problem-solving) and limitations (eg, motor, attention, social, processing speed, learning). We will differentiate between the medical, psychiatric, and neurocognitive functions of a child with this rare condition over time by evaluating her development across several domains. We will also draw comparisons to other individuals with MSL3 syndrome, as well as those with more common conditions. This case report adds to the existing knowledge of MSL3 syndrome, illustrates the importance of serial and detailed assessments, and may assist in treatment planning and management for other individuals with this condition.