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An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty

Yuto Arai1, Tohru Okanishi2, Tetsuya Okazaki3

  • 1Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, 683-8504, Tottori, Japan.

BMC Pediatrics
|May 6, 2024
PubMed

Insights

This study reports the first adolescent case of ASXL3-related disorder, presenting with feeding difficulties. Avoidant/restrictive food intake disorder (ARFID) was suspected as the cause.

Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • ASXL3-related disorder is a rare genetic condition with autosomal dominant inheritance.
  • Characterized by neurodevelopmental delay and limited speech, feeding difficulties are common in infancy.
  • No adolescent cases of ASXL3-related disorder have been previously documented.
Abstract

Keywords:
ASXL3-related disorderAvoidant/restrictive food intake disorderEmotional labilityFeeding difficultyWhole-exome sequencing

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