HEALTH ALERT: Parents, be advised that if your baby has Down syndrome, they have a 10% (1 out of 10) chance of having Infantile Spasms (a form of baby epilepsy). This is an under reported disease in infants with DS.

It shows up around 3 to 12 months of age and presents as a strange “Salaam” motion –the hands come together at the chest area and arms are extremely rigid. The legs also contract and the knees come up. The baby usually cries out during an episode. We have summarized what you need to know in this entry so that you can become familiar with IS and how it is treated. It is critical that you bring your baby to the emergency room for immediate care. This must be treated or brain injury will result.

The information below has been created from our own personal experience and medical references primarily taken from www.Wikipedia.com and more information can be attained by visiting their website. Other online resources are: www.webMD.com and www.dsresearch.stanford.edu.

Definition:

Epilepsy in babies.  The name “Infantile Spasms” (IS) is used to describe both the seizure type and the syndrome (West syndrome, a term more often used in Europe than the US).

IS is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month.

It is generally outgrown and rarely seen again beyond ages 24-36 months.

Prevalence: Occurs in 10 to 15 babies with Down syndrome out of 100. Boys are more likely than girls to get it in a ratio of 3:2.
Clinical Presentation/

Symptoms:

The epileptic seizures which can be observed in infants with IS fall into three categories. Typically, the following triad of attack types appears; while the three types usually appear simultaneously, they also can occur independently of each other:

  • Lightning attacks: Sudden, severe myoclonic convulsions of the entire body or several parts of the body in split seconds, and the legs in particular are bent (flexor muscle convulsions here are generally more severe than extensor ones).
  • Nodding attacks: Convulsions of the throat and neck flexor muscles, during which the chin is fitfully jerked towards the breast or the head is drawn inward.
  • Salaam or jackknife attacks: a flexor spasm with rapid bending of the head and torso forward and simultaneous raising and bending of the arms while partially drawing the hands together in front of the chest and/or flailing. If one imagined this act in slow motion, it would appear similar to the oriental ceremonial greeting (Salaam), from which this type of attack derives its name. Often, the arms are locked and rigid and it is difficult to open the arms or pry them away from the chin or chest area until the seizing stops.

Loss of milestones. Infants may stop smiling, laughing, grasping objects, making eye-contact and more. Disinterested in playing, learning or interacting.

An infant may appear distressed, as in colic.

They may self-soothe endlessly.

Diagnosis: An Electroencephalography (EEG) will take a measurement of the electrical activity produced by the brain as recorded from electrodes placed on the scalp. Hypsarrhythmia confirms the diagnosis of IS. (Hypsarrhythmia is, in simple terms, a very chaotic and disorganized brain wave behavior with no recognizable pattern, where a normal EEG shows clear separation between each signals and visible pattern. Hypsarrhythmia rarely persists beyond the age of 24 months.)
The “Silver Lining”: Whereas this form of epilepsy is relatively difficult to treat in children who do not have the chromosomal differences involved in Down’s syndrome, the syndrome often affects those who do far more mildly and they often react better to medication.

What is normally a serious form of epilepsy in such cases is often a relatively benign one in those who have a chromosomal difference.

Although not all children can become entirely free from attacks with medication, children with Down’s syndrome are less likely to go on to develop Lennox-Gastaut syndrome or other forms of epilepsy than those without additional hereditary material on the 21st chromosome.

Causes: It is still unknown which bio-chemical mechanisms lead to the occurrence of Infantile Spasms. It is conjectured that it is a malfunction of the neurotransmitter function, or more precisely, a malfunction in the regulation of the GABA transmission process.

Another possibility being researched is a hyper-production of the Corticotropin-releasing hormone (CRH). It is possible that more than one factor is involved. Both hypotheses are supported by the effect of certain medications used to treat it.

Have your baby checked for vitamin B6 (pyridoxine) deficiency. In some extremely rare cases of IS, it is found that the cause is a B6 deficiency.

Treatment:

There are numerous medications used to treat IS. The most common initial treatment is steroids, such as Prednisone or ACTH. Anti-convulsants, such as Topomax, are used for a longer term -24 to 36 months of age since IS generally is not seen in young children beyond this age.

If seizures are difficult to control, children with Down’s Syndrome are at risk to develop an autistic spectrum disorder.

Life with IS: Once a baby gets medication to control the seizures, it takes an average of about one month for the infant’s body to resume normal activity. The lost milestone delays generally are regained over time, once the seizures are under control.

After the first 5-6 weeks of steroid type medication, a tapering period ensues while the adrenal glands restore themselves. This takes anywhere from 5-7 months.

A child will typically remain on the anti-convulsant until they are out of the danger zone for seizures (approx. 24-36 months of age).

While on steroid type drugs, an acid blocker (such as Zantac) will be prescribed to prevent damage to the stomach lining.

A ketogenic diet (high-fat, low-protein, low-carb) may be prescribed.

If you suspect your baby has IS take these steps:

  • Videotape the seizures, if at all possible. Many pediatricians do not have patients with IS and have not seen the attacks in person. You will be referred to a neurologist where you will wait several months to get an EEG to confirm diagnosis.
  • Bring your baby and the videotape to the Emergency Room for further diagnosis.
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