Welcome to the NORD Physician Guide to Infantile Spasms by Cristina Y. Go, MD, and O. Carter Snead III, MD, FAAN.
The authors are members of the Department of Neurology, Hospital for Sick Children, Toronto, Canada.
Infantile spasms is a catastrophic epilepsy syndrome with onset in the first year of life. Prompt diagnosis and urgent treatment of affected children can improve their long-term outcomes.
Publication of this guide was made possible by fundraising conducted by 13-year-old Jacob
Maren, who experienced infantile spasms during the first year of his life and benefited from prompt diagnosis. (See acknowledgements for additional information.)
The NORD Guide to Infantile Spasms is part of a series sponsored by the National Organization for Rare Disorders and written by physicians for physicians to promote early diagnosis and appropriate treatment for individuals affected by rare diseases. NORD is a nonprofit organization, established in 1983, which provides programs of education, advocacy, patient services and research.
NORD is grateful to Jacob Maren and his family, the authors, and the American Academy of Neurology for helping make this guide possible.
Infantile spasms is characterized clinically by epileptic spasms which consist of massive myoclonic jerks of the body, often accompanied by developmental regression and a characteristic EEG pattern. When all three features are present, the term “West syndrome” is commonly used.
In some cases, the spasms may be subtle, manifesting as head nods and clusters of wide eye opening with eye deviation.
The syndrome is considered to be catastrophic because of the frequent sequelae of global neurodevelopmental delay, significant intellectual disability, and medically refractory epilepsy.
Because of the critical importance of early treatment, children presenting with infantile spasms require prompt and comprehensive diagnostic evaluation.
There is a report on the following related topic in NORD’s online Rare Disease Database for patients, families and the public at: