Jacobsen syndrome is a rare, inherited disease that impairs development in children. Children with Jacobsen syndrome often have developmental delays in motor skills, learning, memory, and speech. Many children with Jacobsen syndrome also display behavior similar to attention deficit hyperactivity disorder (ADHD).
Researchers in the Section on Metabolic Regulation, within the Division of Intramural Research Program in Developmental Neuroscience, hypothesized that a defect in the gene that encodes for a brain protein called neurogranin (Ng) is linked to the learning and memory problems. When scientists remove the Ng gene from mice, the mutant animals show ADHD-type behaviors, including learning and memory difficulties and hyperactivity, and social withdrawal.
Treating the mutant mice with the commonly used ADHD drug methylphenidate HCL, also known as Ritalin®, improved the animals’ behavior. Compared to untreated mice lacking Ng, the treated mice became less hyperactive, increased social interaction, and their memory improved. Brain recordings of the treated mice showed that methylphenidate HCL also improved measures of neuron activity related to learning.
These results suggest that methylphenidate could be effective in treating ADHD symptoms in children with Jacobsen syndrome (PMID: 22809330).