Mia Tuft

Aicardi Syndrome: An Epidemiologic and Clinical Study in Norway

BACKGROUND Aicardi syndrome is a rare neurodevelopmental disorder. The main diagnostic features are agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. The aim of this study was to perform a nationwide epidemiologic survey of patients with Aicardi syndrome and describe their clinical features. Norway is a small country with a well-developed health system, making epidemiologic studies of rare diseases feasible and reliable. METHODS We aimed at identifying all patients diagnosed with Aicardi syndrome in Norway. Prevalence of Aicardi syndrome was calculated for January 1, 2011. All available patients were examined, and their medical records were scrutinized. RESULTS Six females aged 7 to 27 years with the diagnosis of Aicardi syndrome were identified. With a female population of 949,578 in ages 0 to 29 years, we found an age-adjusted prevalence of 0.63 per 100,000 females. One patient never had epileptic seizures. The other five had all experienced infantile spasms, all had at some point hypsarrhythmia in electroencephalography, two had a clear picture of suppression burst, whereas three had periods of suppression. Four of the five patients with seizure disorders experienced a marked improvement with time. CONCLUSION We found an age-adjusted prevalence of 0.63 per 100,000 females with Aicardi syndrome and that their seizure disorder appeared to improve with age.

Treatment for psychogenic non-epileptic seizures.

The main differential diagnosis of epilepsy among young adults is psychogenic non-epileptic seizures. Such seizures may manifest themselves in very different ways and usually have complex root causes. Optimal treatment of persons experiencing seizures of this type requires close cooperation between the neurologist and the psychiatrist.

Post-lobotomy epilepsy illustrated by the story of Ellinor Hamsun, the daughter of the famous Norwegian author Knut Hamsun

In Scandinavia, at least 11.500 people were lobotomized in the period 1939–1983. Beside grave personality changes, the surgery caused epilepsy in 10–35% of the patients. Moreover, many died due to perioperative bleedings, convulsive status epilepticus or SUDEP. Most of the stories of these people are anonymous and their post-lobotomy lives are scarcely documented. If it was not for the fact that Ellinor Hamsun (1916–1987) was the daughter of the famous Nobel Prize winning Norwegian author Knut Hamsun, her lobotomy story and the subsequent iatrogenic epilepsy would probably have remained unknown.

Traditional folk beliefs on epilepsy in Norway and Sweden

In Norway and Sweden, epilepsy has for many centuries been considered a strange and mysterious disease. The explanations of its causes have been many and imaginative. One being that epilepsy was caused by the hidden people inhabiting the woods and the mountains. To avoid the disease, these hidden people should not be annoyed. One commonly used treatment principle was to try to place the disease back to the ground, or passing the diseased through a hole or an opening in the nature. Fresh blood from criminals was also considered to have strong antiepileptic properties. In the Scandinavian countries, some of these folk beliefs have been very tenacious.

Aicardi syndrome and cognitive abilities: A report of five cases

Aicardi syndrome is a rare neurodevelopmental disorder with agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms as the main features. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. In this study, we assessed the level of cognitive function of five girls with Aicardi syndrome, using normed population based tests and questionnaires. Their cognitive abilities varied from mild to profound intellectual disabilities. The more severe the epilepsy, the poorer were the cognitive skills. To the best of our knowledge, this is the first study that systematically applies validated cognitive assessment tools to study patients with this syndrome. Knowledge about cognitive functioning is crucial for providing optimal special education and finding appropriate alternative communication with parents and caregivers.

Ian Curtis: Punk rock, epilepsy, and suicide

Ian Curtis was the front man of the post-punk band Joy Division. He suffered from epilepsy and actively incorporated his experiences of the disease in his lyrics. Curtis had frequent epileptic seizures, both on and off stage. After dying from suicide in 1980, he became a legend in the post-punk milieu. The impact which the epilepsy, the epilepsy treatment, and comorbid depression had on his artistic life and premature death is not well known.