Growth hormone benefits children with 18q deletions

Jannine D Cody1, Margaret Semrud-Clikeman, L Jean Hardies

  • 1Department of Pediatrics, University of Texas Health Science Center, San Antonio, 78229, USA. cody@uthscsa.edu

Insights

Growth hormone treatment significantly improved cognitive function and height in children with 18q-deletion syndrome. This study shows potential long-term benefits for developmental delays and growth failure.

Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • 18q-deletion syndrome is characterized by developmental delays, brain dysmyelination, and growth failure due to growth hormone deficiency.
  • Growth hormone deficiency is a common endocrine complication in individuals with 18q-deletion syndrome.

Purpose of the Study:

  • To evaluate the effects of growth hormone treatment on growth, nonverbal intelligence, and brain MRI changes in individuals with 18q-deletion syndrome.
  • To assess the clinical significance and potential long-term impact of growth hormone therapy on cognitive and physical development.

Main Methods:

  • A cohort of 23 individuals with 18q-deletion syndrome was monitored.
  • Growth hormone treatment effects were assessed by measuring changes in height, nonverbal intelligence quotient (nIQ), and quantitative brain MRI (T1 relaxation times).
  • Data were collected over an average follow-up period of 37 months.

Main Results:

  • The treated group (13 children) showed an average nIQ increase of 17 points.
  • Height standard deviation score increased by an average of 1.7.
  • Significant changes in T1 relaxation times were observed in the caudate nucleus and frontal white matter, indicating brain structural changes.

Conclusions:

  • Growth hormone treatment leads to clinically significant cognitive improvements in individuals with 18q-deletion syndrome.
  • The observed changes in growth and brain MRI suggest a positive impact of growth hormone therapy on neurodevelopmental outcomes.
  • These findings indicate that growth hormone treatment may positively influence the long-term prognosis for individuals with 18q-deletion syndrome.

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