What if my baby has infantile spasms?

What if my baby has infantile spasms?

[mme_highlight] Infantile spasms are a rare form of epilepsy of the early infancy, occurring predominantly in the first year of life. The triad of West syndrome comprises infantile spasms, hypsarrhythmia (EEG pattern) and mental retardation. The prognosis is better if the neurologic history and examination were normal prior to the onset of febrile seizures. [/mme_highlight]

Infantile spasms are a severe form of epilepsy of early infancy. This epileptic disorder was first described by Dr. William James West in his own son in 1841. Named after Dr. West, the triad of West syndrome comprises infantile spasms, hypsarrhythmia (EEG (electroencephalogram) pattern) and mental retardation. An early diagnosis and a good response to treatment increase the chances for a normal development.

How common are infantile spasms?

Infantile spasms are a rare form of epilepsy of the early infancy, occurring predominantly in the first year of life. The table below shows incidence and proportion of infantile spasms by time of onset. Spasms usually cease by 5 years of age, but then other forms of seizures appear in as many as 60% of children with infantile spasms.

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Epidemiologic (statistical) data for Infantile Spasms

·        Incidence: 2 to 3.5 cases per 10.000 live births

·        Time of  Onset:

–        Range: 1 day to 4.5 years of life

–        90% during the first year

–        50 to 77% between 3 and 7 months of life (peak incidence)

–        Very rarely in children older than 18 months of life.

·        Ratio boys:girls – 60:40.

Incidence – number of new cases within a specified time period in a population.
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How does an infantile spasm look like?

Infantile spasms are muscular contractions lasting 1 to 2 seconds.  3 main types of spasms have been identified:

  • Flexor spasms: sudden flexion of the neck, trunk and limbs associated with contraction of the abdominal muscles.
  • Extensor spasms: sudden extension of the neck and trunk, with inward or outward movement of limbs.
  • Combination of flexor and extensor spasms: generally, with flexion of the neck, trunk, and arms with extension of legs.

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Types of Infantile Spasms

(Study: 5042 spasms were obseved in 24 infants)

–        Flexor spasms: 33.9% of spasms

–        Extensor spasms: 22.5% of spasms

–        Combination flexor+extensor spasms: 42%.

Note: Most of infants had more than one type of spasm

 

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What are the causes for infantile spasms?

The classification of infantile spasms by cause includes the categories of cryptogenic and symptomatic.

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Classification of Infantile Spasms

·        Cryptogenic

–        10 to 40% of cases;

–        No underlying cause identified;

–        Normal development prior to onset of infantile spasms.

·        Symptomatic:

–        remaining cases;

–        when a cause can be demonstrated.

 

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Although much remains unclear, the following conditions may cause infantile spasms:

  • Metabolic disorders (eg., phenilketonuria, vitamine B12 deficit);
  • Malformations (eg., microcephaly, tetralogy of Fallot);
  • Tuberous sclerosis complex;
  • Infections (cytomegalovirus has been implicated);
  • Immune pathogenesis;
  • Neoplasms (eg., basal ganglia glioma);
  • Genetic syndromes (eg., Down’s syndrome, cri du chat syndrome);

How are infantile spasms diagnosed?

In the majority of cases, the first alert for further clinical evaluation is set by parents. Parents usually bring their child to a doctor because of episodes that can be mistaken with a colic or gastro esophageal reflux. Parental videos of the infant spasms may help the clinical evaluation. Generally, an EEG is done and further testing may be needed according to the clinical set.

Is there any association between infantile spasms and vaccination?

Studies have ruled out this association. This was a debated issue for more than 50 years, but a recent consensus stated that the risk of vaccine induced encephalopathy or epilepsy, if it exists at all, is extremely rare, very different from the higher risk of not vaccinating.

What is the treatment for infantile spasms?

Your doctor will guide you and certainly answer all your questions. Give the medicines to your baby exactly as prescribed as this increases the likelihood for recovery. Generally, antiepileptic drugs and ACTH (adrenocorticotropic hormone) are the therapeutic regimens offered.

What is the prognosis for infantile spasms?

It is consensual that the prognosis is better if the neurologic history and examination were normal prior to the onset of infantile spasms. Rapid cessation of infantile spasms and normalization of EEG also add for a good prognosis. Factors accounting for poor prognosis are mental retardation and abnormal mental status prior to the onset of infantile spasms.

Summary and Recommendations

  • Infantile Spasms are a severe and rare form of epilepsy of early infancy, generally appearing in the first year of life.
  • Infantile spasms can be flexor, extensor or a combination of both.
  • Parents and caregivers are generally the first to notice the spasms. If this is the case, take your child to a doctor. A video recording of the spasms may be helpful. An EEG is generally part of the investigation.
  • The prognosis is better if there was no prior history of neurologic impairment. Rapid cessation of spasms and normalization of EEG are also good signs.

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References

  1. Fois A. Infantile spasms: review of the literature and personal experience. Ital J Pediatr. 2010 Feb 8;36:15.
  2. James W Wheless, Patricia A Gibson, Kari Luther Rosbeck et al. Infantile spasms(West syndrome): update and resources for pediatricians and providers to share with parents. BMC Pediatr. 2012; 12: 108.
  3. Kellaway P, Hrachovy RA, Frost JD Jr, Zion T. Precise characterization and quantification of infantile spasms. Ann Neurol 1979; 6:214.
  4. Shields WD: West’s syndrome. J Child Neurol 2002, 17(suppl 1):S76–

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