Evidence and Practice

Syndromes: Aicardi syndrome

A rare neurodeveopmental disorder first identified in the mid-1960s that could be encountered by learning disability nurses
Picture shows the face on an infant

Aicardi syndrome is a rare neurodeveopmental disorder, first identified in the mid-1960s, that could be encountered by learning disability nurses

Aicardi syndrome , first identified by Jean Aicardi in the mid-1960s, is a rare and severe neurodevelopmental disorder (Aicardi 2003) . It is thought to affect up to 4,000 individuals worldwide. There is no clear understanding of the aetiology of this condition, but it is known to be an X-linked dominant condition found almost exclusively in females.

Due to the presence of an extra X chromosome, this condition has also been reported among men with Klinefelter syndrome

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Aicardi syndrome is a rare neurodeveopmental disorder, first identified in the mid-1960s, that could be encountered by learning disability nurses

Picture shows the face on an infant
Picture: iStock

Aicardi syndrome, first identified by Jean Aicardi in the mid-1960s, is a rare and severe neurodevelopmental disorder (Aicardi 2003). It is thought to affect up to 4,000 individuals worldwide. There is no clear understanding of the aetiology of this condition, but it is known to be an X-linked dominant condition found almost exclusively in females.

Due to the presence of an extra X chromosome, this condition has also been reported among men with Klinefelter syndrome (Zubairi et al 2009). This supports the premise that the condition is caused by a probable spontaneous mutation of the X chromosome (Wong and Sutton 2018).

Disorder is characterised by a triad of diagnostic features

Aicardi syndrome is characterised by what has become known as a triad of diagnostic features:

  • Agenesis of the corpus callosum, which refers to the complete or partial absence of the nerve pathway that connects the left and right hemispheres of the brain.
  • Infantile spasms (single jerks of the whole body).
  • Chorioretinal lacunae, which refers to lesions in the pigmented layer of the retina (Aicardi 2005).

Other features that may be present in an individual with Aicardi syndrome include other structural brain abnormalities, hypertonia, spasticity or hypotonia, scoliosis, prominent premaxilla, gastrointestinal reflux and feeding problems (Kroner et al 2008).

Variation in severity of learning disability

Learning disability is present in almost all individuals with Aicardi syndrome, but there appears to be variation in its severity. A direct link has been established between the frequency and intensity of seizures and cognitive ability of the individual.

The first signs of Aicardi syndrome typically present as infantile spasms, which commonly may develop from around four months although they can occur from birth (Kroner et al 2008). Delay in motor development may be apparent before this time, evidenced in poor muscle tone and a lack of purposeful movement.

Diagnosis is commonly made at the onset of seizures and involves magnetic resonance imaging (MRI), electroencephalogram (EEG) and ophthalmological examination.

Balance between seizure control, adverse effects of medications and quality of life

Seizure activity is the main concern with this syndrome, with many people experiencing intractable seizures. These have been treated with a degree of success with vigabatrin in early infancy, although evidence suggests that in the long term this becomes less effective.

Many individuals with Aicardi syndrome are treated with a combination of anticonvulsant medications. A balance must be considered between seizure control, adverse effects of medications and quality of life.

While other areas of brain abnormality and eye deformities are also a major focus in the literature, there are limited studies that explore the management of the non-neurological conditions that affect individuals with Aicardi syndrome.

A study of 69 children with Aicardi syndrome by Glasmacher et al (2007) established that a significant number of children with Aicardi syndrome also experienced constipation (94%) while more than half of this population experienced gastric reflux. There are few studies presently that address these issues.

Prognosis appears to be linked to the severity of seizures

Survival with Aicardi syndrome is variable and appears to depend on the severity of the seizures and the presence of other features, especially those concerning other organs and in particular the respiratory system (Wong and Sutton 2018, Lund et al 2015).

Prognosis of this condition appears to be closely linked to the severity of the seizures – the more severe the epilepsy the greater the chances of reduced life expectancy (Lund et al 2015).

Lifelong support is required for an individual with Aicardi syndrome. Sudden unexpected death in epilepsy (SUDEP) and systemic infection are the leading causes of death in this population.

Case study: Jane, now 26, was diagnosed at four months old

Jane (not her real name) is a 26-year-old woman with Aicardi syndrome. She was diagnosed at four months old following concerns raised by her parents in relation to a lack of spontaneous movement of her limbs and a noticeable head lag.

Seizures were noted from about six weeks and began initially as fluttering eyelids. This increased in frequency until Jane was having upwards of ten of these a day, and they were often accompanied by laughing or crying for periods of four to five minutes.

Jane did not meet the milestones associated with normal development and was diagnosed with a profound learning disability. She attended a local special school before transferring to an adult day centre at the age of 19.

Jane’s mother is supported in caring for her by a community learning disability nurse (CNLD). The nurse offers support in the management of Jane’s seizures, continence and general health monitoring. Jane has several different seizure types and can have more than 15 seizures per week.

Jane generally enjoys good health

Although her epilepsy is intractable, the introduction of levetiracetam alongside lamotrigine and sodium valproate has had a positive effect, with a reduction in seizures to less than one daily. As Jane is sensitive to changes in her medication the CNLD oversaw a slow titration of this medication to a therapeutic dose and also provided support and advice to Jane’s mother during this process.

Jane generally enjoys good health but has recently had two periods in hospital due to suspected abdominal pain.

She was unable to indicate specifically where this pain was located and despite thorough examination no reason could be attributed and no cause established. This continues to be monitored by her mother and the CNLD.

Jane attends day care five days a week and has respite care one night every four weeks. She appears to enjoy these environments and the CNLD supports day care and respite staff in their care for Jane.


Joanne Blair is a lecturer at the School of Nursing and Midwifery, Queens University Belfast


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