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Neuro-developmental outcomes in infants with vitamin B12-deficiency and neurologic features

Juhi Gupta1, Pragati Jeenwal1, Sayoni Roy Chawdhary2

  • 1Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|October 24, 2025
PubMed

Insights

Infantile tremor syndrome (ITS), caused by vitamin B12 deficiency, can lead to lasting developmental delays in children. Early treatment improves symptoms, but long-term neurodevelopmental outcomes remain a concern.

Area of Science:

  • Pediatrics
  • Neurology
  • Nutritional Science

Background:

  • Infantile tremor syndrome (ITS) results from vitamin B12 deficiency in infants.
  • ITS can cause global developmental delay, regression, and characteristic physical changes.
  • Long-term neurodevelopmental outcomes for infants with ITS are not well-documented.

Purpose of the Study:

  • To assess the long-term neurodevelopmental outcomes of children diagnosed with infantile tremor syndrome.
  • To evaluate the social quotient (SQ) in a cohort of children with a history of ITS.

Main Methods:

  • A cross-sectional study was conducted on 35 children (aged ≥2 years) with a history of ITS.
  • Neurodevelopmental outcomes were assessed using Malin's adaptation of the Vineland Social Maturity Scale (VSMS).
  • Data collected included age at assessment, duration of follow-up, and social quotient (SQ) scores.

Main Results:

  • The mean age at assessment was 30 months, with a mean follow-up of 16.3 months.
  • Only 26% of children had an average SQ (85-105).
  • A significant majority, 51%, exhibited borderline disability (SQ 70-84), with others showing mild to severe disability.

Conclusions:

  • Despite initial improvements after treatment, infants with ITS experience significant long-term developmental delays.
  • The findings highlight the need for ongoing monitoring and support for neurodevelopmental outcomes in children with ITS.
  • Vitamin B12 deficiency in infancy has profound and lasting effects on neurodevelopment.

Keywords:
Infantile tremor syndromeInfants with vitamin b12 deficiencyNeurodevelopmental outcome

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