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Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive

Claudia Soler-Alfonso1, Kathleen J Motil, Catherine L Turk

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

The Journal of Pediatrics
|December 21, 2010
PubMed

Insights

Failure to thrive (FTT) is common in children with Potocki-Lupski syndrome (PTLS). Oropharyngeal dysphagia and hypotonia likely contribute to FTT, necessitating early feeding and growth assessments.

Area of Science:

  • Genetics and Human Development
  • Pediatric Medicine
  • Clinical Nutrition

Background:

  • Potocki-Lupski syndrome (PTLS), a genetic disorder caused by duplication 17p11.2, is associated with failure to thrive (FTT).
  • Understanding the growth patterns and contributing factors in PTLS is crucial for early intervention.

Purpose of the Study:

  • To describe the growth characteristics of children with PTLS from birth to age 5.
  • To correlate physical features and swallow function with growth in PTLS.

Main Methods:

  • Evaluated 24 individuals with PTLS using chromosome analysis and/or array comparative genome hybridization.
  • Conducted clinical assessments, including physical and otolaryngological examinations, and swallow function studies.
  • Converted height and weight measurements to Z-scores for growth analysis.

Main Results:

  • Individuals with PTLS exhibited lower mean weight-for-age and weight-for-length Z-scores at birth, which persisted with age.
  • High incidences of poor feeding (92%), hypotonia (88%), and FTT (71%) were reported.
  • All subjects had at least one abnormality in swallow function studies, and hypotonia was linked to lower weight and BMI Z-scores.

Conclusions:

  • FTT is a significant issue in children with PTLS.
  • Oropharyngeal dysphagia and hypotonia are hypothesized to be key contributors to FTT in PTLS.
  • Recommend early assessment for feeding/growth issues and provision of oromotor therapy and nutritional services upon PTLS diagnosis.
Abstract

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