Burnside Butler Syndrome is a genetic condition that affects a person’s development, learning, and behavior. It is considered a microdeletion syndrome, meaning it results from the absence of a small piece of genetic material. While recognized as one of the more common genetic findings in individuals undergoing testing for neurodevelopmental differences, the syndrome’s presentation can vary significantly among affected individuals.
Defining Burnside Butler Syndrome
Burnside Butler Syndrome refers to a genetic condition caused by a specific microdeletion on chromosome 15. This deletion occurs on the long arm of chromosome 15, specifically within the 15q11.2 region between breakpoints BP1 and BP2. The condition is also known as the 15q11.2 BP1-BP2 microdeletion syndrome. This microdeletion involves four neurodevelopmental genes: TUBGCP5, CYFIP1, NIPA1, and NIPA2, which play roles in various cellular functions, including brain development.
It is a frequent genetic finding in patients with neurodevelopmental or autism spectrum disorders. Despite its presence in roughly 1 in 292 people in the general population, many individuals carrying this deletion do not exhibit clinical symptoms, indicating a low penetrance.
Identifying the Features
Individuals with Burnside Butler Syndrome often present with developmental and behavioral characteristics. Developmental delays are frequently observed, affecting speech in up to 90% of cases and motor skills in approximately 36% of individuals.
Learning and behavioral challenges are also common, with conditions such as attention deficit hyperactivity disorder (ADHD) affecting about 35% of individuals. Autism spectrum disorder (ASD) features are present in around 43%. Other reported behavioral issues include obsessive-compulsive disorder, tantrums, and sleep problems.
Neurological manifestations can include seizures, reported in approximately 21% of individuals, and abnormal brain findings, such as a smaller brain surface area with a thicker cortex. Some individuals may also exhibit subtle physical features, such as a broad face, soft or overfolded ears, and a smooth upper lip. These physical findings are not consistently present and tend to be mild.
Genetic Roots and Detection
This deleted segment contains four genes: TUBGCP5, CYFIP1, NIPA1, and NIPA2, which are implicated in neurodevelopment. These genes contribute to various biological processes, including magnesium ion transport and cellular growth regulation, suggesting their collective absence can disrupt normal neurological function.
Diagnosis of Burnside Butler Syndrome typically involves genetic testing, most commonly through chromosomal microarray analysis. This advanced genetic test can detect small missing or extra pieces of chromosomes that might not be visible with traditional karyotyping. The deletion can be inherited from a parent, who may or may not display symptoms themselves, or it can occur spontaneously as a “de novo” change in the affected individual. Identifying the specific genetic change helps confirm diagnosis and informs genetic counseling for families.
Navigating Life with the Syndrome
Managing Burnside Butler Syndrome involves a comprehensive, individualized approach to support developmental and behavioral needs. Therapeutic interventions often include physical, occupational, and speech therapies, which aim to address developmental delays and improve functional skills. Educational support tailored to individual learning styles is also a component of care.
Medical care focuses on monitoring and addressing associated health concerns, such as seizures or behavioral challenges. Anecdotal reports from parents suggest that magnesium supplementation might improve behavior and clinical presentation in some children, particularly because two of the deleted genes, NIPA1 and NIPA2, encode magnesium transporters. While these observations warrant further controlled studies, they highlight a potential avenue for supportive care. A multidisciplinary team of specialists, including neurologists, geneticists, developmental pediatricians, and therapists, often collaborates to provide holistic care.