DEND syndrome

DEND syndrome stands for Developmental delay, Epilepsy, and Neonatal Diabetes. It is a very rare condition that affects babies from birth. The name describes the three main problems it causes: serious developmental delays, hard-to-control seizures, and diabetes that starts in the first few months of life. It is sometimes called 'DEND syndrome' or referred to as part of a group of conditions called 'neonatal diabetes mellitus with neurological features.' A milder version, called intermediate DEND (iDEND) syndrome, causes diabetes and some developmental delay but fewer or no seizures. DEND syndrome is caused by changes (mutations) in genes that control a special channel in cells called the ATP-sensitive potassium channel, or KATP channel. This channel plays a key role in the pancreas (which makes insulin to control blood sugar) and in the brain and muscles. When the channel does not work properly, the pancreas cannot release insulin correctly, leading to diabetes. At the same time, the brain is affected, causing seizures and slowed development. For many years, children with DEND syndrome were treated with insulin injections for their diabetes. A major breakthrough came when doctors discovered that a type of medication called sulfonylureas — especially glibenclamide (also known as glyburide) — can treat both the diabetes and, in some cases, improve the brain symptoms. This has changed the outlook for many children with this condition, though the neurological problems can be harder to treat than the diabetes.

Bring these to your next appointment

• Q1.Should my child switch from insulin to a sulfonylurea medication, and what benefits or risks should I expect?,What is the best way to monitor and manage my child's blood sugar at home?,What seizure medications are most appropriate for my child, and what should I do if a seizure lasts more than 5 minutes?,What early intervention therapies (physical, occupational, speech) should my child start, and how soon?,Are there any clinical trials or new treatments for DEND syndrome that my child might be eligible for?,What is the long-term outlook for my child, and what level of independence might they achieve?,Should other family members be tested for mutations in KCNJ11 or ABCC8?

Common questions about DEND syndrome