Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index

Am J Med Genet A. 2019 Sep;179(9):1826-1835. doi: 10.1002/ajmg.a.61293. Epub 2019 Jul 16.

Abstract

Prader-Willi syndrome (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, hypogenitalism/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity. The Stanford Binet and Wechsler (WAIS-R; WISC-III) intelligence (IQ) tests were administered on 103 individuals with PWS from two separate cohorts [University of California, Irvine (UCI) (N = 56) and Vanderbilt University (N = 47)] and clinical information obtained including growth hormone (GH) treatment, PWS molecular classes, weight and height. Significantly higher IQ scores (p < .02) were found representing the vocabulary section of the Stanford Binet test in the growth hormone (GH) treated group when compared with non-GH treatment in the pediatric-based UCI PWS cohort with a trend for stabilization of vocabulary IQ scores with age in the GH treated maternal disomy (UPD) 15 subject group. Significant differences (p = .05) were also found in the adult-based Vanderbilt PWS cohort with 15q11-q13 deletion subjects having lower Verbal IQ scores compared with UPD 15. No difference in body mass index was identified based on the PWS molecular class or genetic subtype. Medical care and response to treatment with growth hormone may influence intelligence impacted by PWS genetic subtypes and possibly age, but more studies are needed.

Keywords: PWS molecular classes; Prader-Willi syndrome; Stanford Binet intelligence test; Wechsler intelligence test; body mass index; growth hormone treatment.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Body Mass Index
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 15 / genetics*
  • Female
  • Growth Hormone / administration & dosage*
  • Humans
  • Intelligence / drug effects
  • Intelligence Tests
  • Male
  • Phenotype
  • Prader-Willi Syndrome / classification
  • Prader-Willi Syndrome / drug therapy*
  • Prader-Willi Syndrome / genetics
  • Prader-Willi Syndrome / pathology
  • Sequence Deletion / genetics*
  • Stanford-Binet Test
  • Wechsler Scales
  • Young Adult

Substances

  • Growth Hormone