Definitions and Acronyms

Kandyland Word Cloud

Absence Seizures – Previously referred to as petit mal seizures.  Patients who have this seem to be “checking out” or just daydreaming.  Occasionally, they have physical symptoms of seizure activity such as eye twitches or flutters, involuntary grimace.

ASD – Autism Spectrum Disorder

DEND Syndrome– Developmental Delay, Epilepsy and Neonatal Diabetes

iDEND – intermediate Developmental Delay, Epilepsy and Neonatal Diabetes (the intermediate denotes that the patient does not have epilepsy)

Glyburide – A type ofsulfonylurea pill that has been used for Type 2 Diabetes for over 50 years and is now prescribed for some patients with specific forms of Monogenic Diabetes

KCNJ11 – One of the most common genes that contains mutations that can cause Neonatal Diabetes (Also referred to as Kir6.2 which is the potasium ion channel in some research papers) This is the gene my children have

Monogenic Diabetes – The umbrella term for all types of diabetes that are caused by a single specific genetic mutation.  There are several types of Monogenic Diabetes such as Permanent Neonatal Diabetes, Transient Neonatal Diabetes and MODY.  It is different from autoimmune Type 1 Diabetes, Latent Autoimmune Diabetes in Adults (LADA) and Type 2 Diabetes

NDM – Neonatal Diabetes Mellitus – This covers any type of diabetes that is diagnosed within the first 6 months of life.  It is rare, but occasionally a patient is diagnosed between 6 and 12 months of age.  That is why most doctors are advised to test all infants diagnosed with diabetes under the age of 12 months for any monogenic gene mutations.

PNDM – Permanent Neonatal Diabetes Mellitus – This type of ND is diagnosed in infancy and never goes away.

SPD – Sensory Processing Disorder (formerly known as Sensory Integration Disorder)

TNDM – Transient Neonatal Diabetes Mellitus – This type of ND is diagnosed in infancy and goes into remission within a few months.  It can return in childhood or well into adulthood.

V59M – Also known as Val59Met is one of the specific mutations on the KCNJ11 gene.  This one is what my kids have and it is associated with an 80% rate of neurological symptoms like the DEND syndrome. (In the Neonatal Diabetes community, we will often reference our children’s type of diabetes by its specific gene and mutation like this KCNJ11-V59M as a way for both researchers and parents to have a perspective on if their child might have certain similarities. It has been helpful in determining some phenotypes within the group and therefore helping newly diagnosed patients get earlier intervention when needed.)

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