Publications

Abstract

• Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study. Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V.Clin Genet. 2021 Jul;100(1):29-39. doi: 10.1111/cge.13947. Epub 2021 Mar 13.PMID: 33615449 Free PMC article. (07/2022)
• Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.Veatch OJ, Malow BA, Lee HS, Knight A, Barrish JO, Neul JL, Lane JB, Skinner SA, Kaufmann WE, Miller JL, Driscoll DJ, Bird LM, Butler MG, Dykens EM, Gold JA, Kimonis V, Bacino CA, Tan WH, Kothare SV, Peters SU, Percy AK, Glaze DG.Pediatr Neurol. 2021 Oct;123:30-37. doi: 10.1016/j.pediatrneurol.2021.07.009. Epub 2021 Jul 24.PMID: 34388423 (10/2021)
• Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader-Willi Syndrome. Mahmoud R, Swanson HD, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Osann K, Dykens E, Driscoll DJ, Kimonis V.J Clin Med. 2022 May 4;11(9):2572. doi: 10.3390/jcm11092572.PMID: 35566699 Free PMC article. (06/2021)
• Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities.Kimonis VE, Tamura R, Gold JA, Patel N, Surampalli A, Manazir J, Miller JL, Roof E, Dykens E, Butler MG, Driscoll DJ.Genes (Basel). 2019 Nov 6;10(11):898. doi: 10.3390/genes10110898.PMID: 31698873 Free PMC article.Cite Share Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index.Butler MG, Matthews NA, Patel N, Surampalli A, Gold JA, Khare M, Thompson T, Cassidy SB, Kimonis VE.Am J Med Genet A. 2019 Sep;179(9):1826-1835. doi: 10.1002/ajmg.a.61293. Epub 2019 Jul 16.PMID: 31313492Cite Share A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome.Kimonis V, Surampalli A, Wencel M, Gold JA, Cowen NM.PLoS One. 2019 Sep 23;14(9):e0221615. doi: 10.1371/journal.pone.0221615. eCollection 2019.PMID: 31545799 Free PMC article. Clinical Trial.Cite Share Birth seasonality studies in a large Prader-Willi syndrome cohort.Butler MG, Kimonis V, Dykens E, Gold JA, Tamura R, Miller JL, Driscoll DJ.Am J Med Genet A. 2019 Aug;179(8):1531-1534. doi: 10.1002/ajmg.a.61263. Epub 2019 Jun 21.PMID: 31225937 Free PMC article. (05/2020)
• Growth charts for non-growth hormone treated Prader-Willi syndrome. Butler MG, Lee J, Manzardo AM, Gold JA, Miller JL, Kimonis V, Driscoll DJ. Pediatrics. 2015 Jan;135(1):e126-35. doi: 10.1542/peds.2014-1711. Epub 2014 Dec 8. Erratum in: Pediatrics. 2015 May;135(5):946. PMID: 25489013 Free PMC Article (05/2015)
• Format Summary Summary (text) Abstract Abstract (text) MEDLINE XML PMID List     Apply   Choose Destination File Clipboard Collections E-mail Order My Bibliography Citation manager   Format Summary (text) Abstract (text) MEDLINE XML PMID List CSV Create File   1 selected item: 25489013 Format Summary Summary (text) Abstract Abstract (text) MEDLINE XML PMID List MeSH and Other Data E-mail Subject Additional text   E-mail Didn't get the message? Find out why...   Add to Clipboard   Add to Collections Order articles   Add to My Bibliography Generate a file for use with external citation management software.   Create File     See comment in PubMed Commons below Pediatrics. 2015 Jan;135(1):e126-35. doi: 10.1542/peds.2014-1711. Epub  2014 Dec 8. Growth charts for non-growth hormone treated Prader-Willi syndrome. Butler MG1, Lee J2, Manzardo AM3, Gold JA4, Miller JL5, Kimonis V6, Driscoll DJ5. Author information 1Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas; mbutler4@kumc.edu. 2Institute for Measurement, Methodology, Analysis & Policy, Texas Tech University, Lubbock, Texas; 3Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas; 4Department of Pediatrics, Loma Linda University Medical School, Loma Linda, California; 5Department of Pediatrics, University of Florida, Gainesville, Florida; and. 6Department of Pediatrics, University of California, Irvine, California. Erratum in Butler et al. Growth Charts for Non-growth Hormone Treated Prader-Willi Syndrome. Pediatrics. 2015;135(1):e126-e135. [Pediatrics.  2015] Abstract OBJECTIVE: The goal of this study was to generate and report standardized growth curves for weight, height, head circumference, and BMI for non-growth hormone-treated white male and female US subjects with Prader-Willi syndrome (PWS) between 3 and 18 years of age and develop standardized growth charts. METHODS: Anthropometric measures (N = 133) were obtained according to standard methods from 120 non-growth hormone-treated white subjects (63 males and 57 females) with PWS between 3 and 18 years of age. Standardized growth curves were developed for the third, 10th, 25th, 50th, 75th, 90th, and 97th percentiles by using the LMS method for weight, height, head circumference, and BMI for PWS subjects along with the normative third, 50th, and 97th percentiles from national and international growth data. The LMS smoothing procedure summarized the distribution of the anthropometric variables at each age using three parameters: power of the Box-Cox transformation λ (L), median μ (M) and coefficient of variation δ (S). RESULTS: Weight, height, head circumference, and BMI standardized growth charts representing 7 percentile ranges were developed from 120 non-growth hormone-treated white male and female US subjects with PWS (age range: 3-18 years) and normative third, 50th, and 97th percentiles from national and international data. CONCLUSIONS: We encourage the use of syndrome-specific growth standards to examine and evaluate subjects with PWS when monitoring growth patterns and determining nutritional and obesity status. These variables can be influenced by culture, individual medical care, diet intervention, and physical activity plans. Copyright © 2015 by the American Academy of Pediatrics. KEYWORDS: Prader-Willi syndrome; children; genetic subtype; standardized growth charts (01/2015)
• Gold J, Matthews N, Surampalli A, Wencel M, Cassidy S, & Kimonis V. (2015). EFFECTS OF GROWTH HORMONE TREATMENT ON INTELLIGENCE TEST RESULTS AND A CONSIDERATION OF MOLECULAR SUBTYPES IN PRADERWILLI SYNDROME. Journal of Investigative Medicine, 63(1), 146-146. (01/2015)
• Gold J A, Lapcharoensap W, Moses S F, & Merritt T A. (2012). Previously Unreported Novel Mutation in COL1A2 with Unusual Presentation of Osteogenesis Imperfecta. Journal of Medical Genetics, 49, S94-S94. (09/2012)
• Gold J A, Ramanathan S, Bartley J, Bailey L, & Clark R. (2011). Does genetics add value to the care of paediatric cardiac patients? Our experience of cardiac genetic referrals at Loma Linda University Medical Centre (LLUMC) in the USA, highlighting the need for a protocol for genetic work-ups. Journal of Medical Genetics, 48, S65-S65. (09/2011)
• Gold J A, Simon J, & Gargus J J. (2011). Course of chemotherapy concurrent with ERT dramatically improves hematological profile in male with Gaucher disease Type 1 and secondary high-grade B-cell lymphoma. Molecular Genetics and Metabolism, 102(3), 285-286. (03/2011)

Scholarly Journals--Published

• Khare Manaswitha, Gold June-Anne, Wencel Marie, Billimek John, Surampalli Abhilasha, . . . Kimonis Virginia E. (2014). Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome. Journal of Pediatric Endocrinology & Metabolism, 27(5-6), 511-518. Background: Currently, there is limited information on the effects of growth hormone and of the different genetic subtypes on bone mineral density (BMD) in Prader-Willi syndrome (PWS). Methods: We evaluated BMD in 79 individuals with the common subtypes of PWS (48 with deletion and 27 with UPD) and the effect of growth hormone treatment (n=46) vs. no growth hormone treatment. Results: Forty-four percent of the individuals studied had whole body, hip, or spine BMD <-1 standard deviation (SD) and 10% had a BMD <-2 SD. BMD Z-scores and total BMD (g/cm(2)) of the spine were significantly higher in the growth hormone group. With each year of growth hormone treatment, these values increased by a factor of 0.207 and 0.011 (p=0.006 and 0.032), respectively. Individuals with uniparental disomy revealed higher spine BMD compared with deletion subclass; however, the differences were not significant. Conclusion: This study emphasizes the importance of evaluating bone mineralization in individuals with PWS and the beneficial effects of prolonged treatment with growth hormone. There was a trend for a higher BMD in individuals with uniparental disomy. (05/2014) (link)
• Gold June-Anne, Ruth Chelsey, Osann Kathryn, Flodman Pamela, McManus Barbara, . . . Kimonis Virginia E. (2014). Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genetics in Medicine, 16(2), 164-169. Purpose: Prader-Willi syndrome is an imprinting disorder characterized by typical facial, physical, and cognitive/behavioral features, resulting from lack of paternally expressed genes on chromosome 15q11.2q13. Studies have suggested an increased risk of other imprinting disorders in children conceived by assisted reproductive techniques. This study was designed to determine the association between assisted reproductive technology and Prader-Willi syndrome. Methods: Data on individuals with Prader-Willi syndrome were collected from three distinct sources and the proportion of assisted reproductive technology births analyzed. Results: The proportions of assisted reproductive technology births in the Prader-Willi Syndrome Association (USA), Rare Diseases Clinical Research Network, and University of California, Irvine Medical Center populations were 1.0% (18/1,736), 1.0% (1/98), and 2.0% (1/50), respectively (overall 1.1%; population frequency for the United States was 1.0%). Of note, 2.4% (45/1,898) of participants were co-twins (11 born after assisted reproductive technology procedures); US twin frequency is 1.6% (P = 0.007). The proportion of individuals with maternal disomy 15/imprinting defects born after assisted reproductive technology was higher than that in the total sample, 55.6% (10/18) and 34.5% (431/1,250), respectively. Conclusion: This study found no association between assisted reproductive technology and Prader-Willi syndrome. There was an increased frequency of twinning. The number of individuals with maternal disomy 15/imprinting defect was nearly double in the assisted reproductive technology group as compared with the total Prader-Willi syndrome participants. (02/2014) (link)
• Lapcharoensap W, Moses S, Gold P J, Merritt T A, & Gold J. (2014). PREVIOUSLY UNREPORTED NOVEL MUTATION IN COL1A2 WITH UNUSUAL PRESENTATION OF OSTEOGENESIS IMPERFECTA. Journal of Investigative Medicine, 62(1), 213-213. (01/2014)
• Nam G H, Merritt T A, Clark R D, & Gold J. (2014). HEMIMEGALENCEPHALY AND EXTENSIVE CAPILLARY MALFORMATIONS IN A NEWBORN WITH A DELETION OF CHROMOSOME 19P1311. Journal of Investigative Medicine, 62(1), 232-232. (01/2014)
• Henkhaus R S, Kim S J, Kimonis V E, Gold J A, Dykens E M, Driscoll D J, & Butler M G. (2012). Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome. Genetic Testing and Molecular Biomarkers, 16(3), 178-186. Purpose: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are complex neurodevelopmental disorders caused by loss of expression of imprinted genes from the 15q11-q13 region depending on the parent of origin. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) kits from MRC-Holland (Amsterdam, The Netherlands) were used to detect PWS and AS deletion subtypes. We report our experience with two versions of the MS-MLPA-PWS/AS kit (original A1 and newer B1) in determining methylation status and deletion subtypes in individuals with PWS. Methods: MS-MLPA analysis was performed on DNA isolated from a large cohort of PWS subjects with the MS-MLPA-PWS/AS-A1 and -B1 probe sets. Results: Both MS-MLPA kits will identify deletions in the 15q11-q13 region but the original MS-MLPA-A1 kit has a higher density of probes at the telomeric end of the 15q11-q13 region, which is more useful for identifying individuals with atypical deletions. The newer B1 kit contains more probes in the imprinting center (IC) and adjoining small noncoding RNAs useful in identifying small microdeletions. Conclusion: The A1 kit identified the typical deletions and smaller atypical deletions, whereas the B1 kit was more informative for identifying microdeletions including the IC and SNORD116 regions. Both kits should be made available for accurate characterization of PWS/AS deletion subtypes as well as evaluating for IC and SNORD116 microdeletions. (03/2012) (link)
• Butler M G, Sturich J, Lee J, Myers S E, Whitman B Y, . . . Driscoll D J. (2011). Growth Standards of Infants With Prader-Willi Syndrome. Pediatrics, 127(4), 687-695. OBJECTIVE: To generate and report standardized growth curves for weight, length, head circumference, weight/length, and BMI for nongrowth hormone-treated white infants (boys and girls) with Prader-Willi syndrome (PWS) between 0 and 36 months of age. The goal was to monitor growth and compare data with other infants with PWS. METHODS: Anthropometric measures (N = 758) were obtained according to standard methods and analyzed from 186 non-growth hormone-treated white infants (108 boys and 78 girls) with PWS between 0 and 36 months of age. Standardized growth curves were developed and the 3rd, 10th, 25th, 50th, 75th, 90th, and 97th percentiles were calculated by using the LMS (refers to lambda, mu, and sigma) smoothing procedure method for weight, length, head circumference, weight/length, and BMI along with the normative 50th percentile using Centers for Disease Control and Prevention national growth data from 2003. The data were plotted for comparison purposes. RESULTS: Five separate standardized growth curves (weight, length, head circumference, weight/length, and BMI) representing 7 percentile ranges were developed from 186 non-growth hormone-treated white male and female infants with PWS aged 0 to 36 months, and the normative 50th percentile was plotted on each standardized infant growth curve. CONCLUSIONS: We encourage the use of these growth standards when examining infants with PWS and evaluating growth for comparison purposes, monitoring for growth patterns, nutritional assessment, and recording responses to growth hormone therapy, commonly used in infants and children with PWS. Pediatrics 2011; 127:687-695 (04/2011) (link)