Burnside Butler syndrome

Burnside‑Butler syndrome (15q11.2 BP1–BP2 microdeletion, 15q11.2 deletion) is a genetic syndrome caused by a deletion of a small region at 15q11.2 on chromosome 15. This chromosomal abnormality results in a wide range of difficulties, including delayed psychomotor development, speech impairment, behavioral and emotional problems, attention deficit disorder, and autism spectrum disorder.

The microdeletion may arise randomly as a de novo mutation or may be inherited from one parent. However, the syndrome may remain clinically silent throughout life. Among the most important typical features of affected individuals are disorders of the nervous system, delayed psychomotor development, delayed speech development, ADHD, and autism spectrum disorder. Additional manifestations include epilepsy, abnormally shaped ears, palatal anomalies (cleft palate), memory and behavioral disorders, and intellectual difficulties. These features may or may not be evident at birth and are often diagnosed much later, when the cause of delayed psychomotor or speech development is investigated.

Burnside‑Butler syndrome may occur as a de novo mutation, meaning it arises in a family with no prior history of the syndrome, or it may be inherited from one parent (studies estimate inherited cases in approximately 80%), with a 50% risk of transmission to offspring.

The prognosis in children and individuals affected by this syndrome depends on the degree of organ involvement, particularly of the cardiovascular system. Children without organ involvement have a normal life expectancy. Some adults are diagnosed only after the birth of their children with this syndrome (in some cases even grandparents are diagnosed after the birth of affected grandchildren).

Diagnosis

Diagnosis is performed using blood tests and genetic testing. Therapy depends on the presence of symptoms and organ involvement. Early intervention is crucial to support psychomotor and cognitive development, including early speech therapy and intellectual stimulation.

• oneskorenie psychomotorického vývoja 73%
• oneskorenie reči 67%
• tvarové špecifické črty (odlišná štruktúra uší) 46%
• porucha podnebia ústnej dutiny 46%
• dyslexia 57%
• dysgrafia, dyskalkulia 60%
• porucha pamäte 60%
• nižšie IQ 50%
• poruchy správania 55%
• abnormálna predstavivosť 43%
• epilepsia 26%
• autizmus 27%
• ADHD 35%
• schizofrénia a obsesívno kompulzívna choroba 20%
• oneskorené motorické schopnosti - zlá koordinácia, ataxia (tackava chôdza) 42%
• kongenitálne poruchy srdca 11%