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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.
Abstract:
Most individuals with constitutional deletions of chromosome 18q have developmental delays, dysmyelination of the brain, and growth failure due to growth hormone deficiency. We monitored the effects of growth hormone treatment by evaluating 23 individuals for changes in growth, nonverbal intelligence quotient (nIQ), and quantitative brain MRI changes. Over an average of 37 months, the treated group of 13 children had an average nIQ increase of 17 points, an increase in height standard deviation score of 1.7, and significant change in T1 relaxation times in the caudate and frontal white matter. Cognitive changes of this magnitude are clinically significant and are anticipated to have an effect on the long-term outcomes for the treated individuals.
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