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WEST SYNDROME

Introduction

It is very recently that we noticed the incidence of West syndrome in Adarsh. It so happened that with the arrival of Dr.Neena Shilen, a Developmental Pediatrcian, we are now able to identify specific developmental as well as genetical disorders, which otherwise remained undetected and therefore not treated. One of such developmental disorder is West syndrome which is described below in detail. It is a typical epilepsy associated developmental disorder which can be effectively treated medically as well as therapeutically. Medical treatment with Sabril (vigabatrin) found very effective in controlling severe epilepsy in West syndrome. Therapeutic measures provided simultaneously with the medical treatment to compensate delay in motor development. We now have 4 children in Adarsh ,who are under treatment of Dr.Neena. and who are in our Early Intervention Section.

Definition

West syndrome or West's Syndrome is an uncommon to rare epileptic disorder in infants. It is named after the English physician, William James West (1793–1848), who first described it in an article published in The Lancet in 1841. The original case actually described his own son, James Edwin West (1820–1840). Other names for it are "Generalized Flexion Epilepsy", "Infantile Epileptic Encephalopathy", "Infantile Myoclonic Encephalopathy", "jackknife convulsions", "Massive Myoclonia" and "Salaam spasms". The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. The syndrome is age-related, generally occurring between the third and the twelfth month of a child , generally manifesting around the fifth month. The syndrome is often caused by an organic brain dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal.

Prevalence

Prevalence is around 1:3200 to 1:3500 of live births. Statistically, boys are more likely to be affected than girls.

Causes

It is still unknown which bio-chemical mechanisms lead to the occurrence of West syndrome. It is conjectured that it is a malfunction of 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.

Symptomatic

The syndrome is referred to as symptomatic West syndrome, as the attacks manifest as a symptom of another problem. Almost any cause of brain damage could be associated, and these are divided into prenatal, perinatal, and post-natal.

The following is a partial list

In around one third of the children, there is evidence of a profound organic disorder of the brain.

Clinical presentation

The epileptic seizures which can be observed in infants with West syndrome fall into three categories, collectively known as infantile spasms. 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.

Permanent damage often associated with West syndrome includes cognitive disabilities, learning difficulties and behavioural problems, cerebral palsy (up to 5 out of 10 children), psychological disorders and often autism (in around 3 out of 10 children).

Therapy

Compared with other forms of epilepsy, West syndrome is difficult to treat. To raise the chance of successful treatment and keep down the risk of longer-lasting effects, it is very important that the condition is diagnosed as early as possible and that treatment begins straight away. However, there is no guarantee that therapy will work even in this case.
Due to their side-effects, two drugs are currently being used as the first-line treatment: ACTH and Vigabatrin.
The ketogenic diet has been shown to be effective in treating infantile spams,[4], up to 70% of children having a 50% or more reduction in seizure[5].

Prognosis

It is not possible to make a generalised prognosis for development due to the variability of causes, as mentioned above, the differing types of symptoms and etiology. Each case must be considered individually.