scholarly journals Gender Differences in the Behavioral Symptom Severity of Prader-Willi Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Masao Gito ◽  
Hiroshi Ihara ◽  
Hiroyuki Ogata ◽  
Masayuki Sayama ◽  
Nobuyuki Murakami ◽  
...  
Keyword(s):  
Gender Differences ◽  
Problem Behaviors ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Rating Scale ◽  
Uniparental Disomy ◽  
Japanese Version ◽  
Prader Willi Syndrome ◽  
Aberrant Behavior Checklist ◽  
Maternal Uniparental Disomy

Objectives. This study measured gender differences in Prader-Willi syndrome (PWS) in regard to the severity of behavioral symptoms.Methods. The Food Related Problem Questionnaire (FRPQ), the Aberrant Behavior Checklist Japanese Version, the Childhood Routines Inventory, the Pervasive Developmental Disorders Autism Society Japan Rating Scale, and Japanese ADHD-RS were administered to PWS patients (45 males aged 6 to 58 and 37 females aged 6 to 45). To examine the effects that gender and genotype have on the severity of each symptom, two-way ANOVAs were conducted.Results. Significant interactions were found only in regard to FRPQ scores, such as FRPQ total score (F(1, 78)= 8.43,p<0.01). The FRPQ of male deletion (DEL) individuals was higher than that of female DEL and male mUPD. The FRPQ of male maternal uniparental disomy (mUPD) was lower than that of female mUPD.Conclusions. In terms of problem behaviors, routines, autistic behaviors, and hyperactivity, no significant differences were found. Food-related behaviors in DEL were more severe in males, although those in mUPD were less severe in males.

scholarly journals Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype

2017 ◽  
Vol 2017 ◽  
pp. 1-10 ◽  
Author(s):  
Atsushi Ishii ◽  
Hiroshi Ihara ◽  
Hiroyuki Ogata ◽  
Masayuki Sayama ◽  
Masao Gito ◽  
...  
Keyword(s):  
Young Adults ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Rating Scale ◽  
Age Groups ◽  
Japanese Version ◽  
Adolescents And Young Adults ◽  
Prader Willi Syndrome ◽  
Aberrant Behavior Checklist ◽  
Significant Difference

The effects of age and genotype were examined, with regard to the severity of aberrant, autistic, and food-related behaviors in Prader-Willi syndrome (PWS), with an emphasis on the contrast between adolescents and young adults. The Aberrant Behavior Checklist Japanese version (ABC-J), the Food Related Problem Questionnaire (FRPQ), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 65 PWS patients, including 20 adolescents (ages 12 to 17) and 45 young adults (ages 18 to 29). Significant differences (Mann–Whitney U tests) were found in ABC-J (p=0.004) and PARS (p=0.021), with lower scores in adolescents than in young adults. While DEL subgroups showed no significant differences between the two age groups in ABC-J (p=0.063) and PARS (p=0.134), mUPD subgroups showed a statistically significant difference in terms of ABC-J (p=0.007). No significant differences were found between adolescents and young adults, in terms of FRPQ (p=0.163). These results suggest that aberrant and autistic behaviors follow a marked worsening trend from around the age of 18. On the other hand, food-related behaviors give no sign of change at this transitory stage. Young adults with mUPD were found to be significantly more severe than adolescents with mUPD, in terms of aberrant behaviors.

Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

2019 ◽  
Vol 32 (8) ◽  
pp. 879-884 ◽  
Author(s):  
Raquel Corripio ◽  
Carla Tubau ◽  
Laura Calvo ◽  
Carme Brun ◽  
Núria Capdevila ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Prospective Study ◽  
Mixed Model ◽  
Standard Deviation Score ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Maternal Uniparental Disomy ◽  
A Prospective Study

Abstract Background There is little evidence of the effects of early treatment with growth hormone (GH) in infants with Prader-Willi syndrome (PWS). A prospective study was conducted to assess the safety of GH therapy in infants younger than 2 years of age with PWS. Methods A total of 14 patients with PWS started treatment with GH under the age of 2 years and were followed over a 2-year period. A deletion of chromosome 15 was present in nine infants (64.3%) and maternal uniparental disomy 15 in five infants (35.7%). The median age at start of GH treatment was 9.6 months (interquartile range [IQR] 9.0–18.3 months). Changes in height standard deviation score (SDS), body mass index (BMI) SDS and subcapsular and tricipital skinfolds in the follow-up period were evaluated with a mixed-model regression analysis using the Package R. Results There were no fatal adverse events. A significant decrease (p < 0.001) in tricipital and subcapsular skinfold thickness, with an upward trend of height SDS and a downward trend of BMI SDS, was observed. Infants who started GH before 15 months of age started walking at a median of 18.0 [17.0–19.5] months vs. 36.6 [36.3–37.8] months for those who began treatment with GH after 15 months of age (p = 0.024). Conclusions GH treatment in infants with PWS less than 2 years of age is safe and improved body composition. Infants who received GH before the age of 15 months started to walk earlier.

scholarly journals Sleep-Related Breathing Disorders in Young Adults With Prader-Willi Syndrome: A Placebo-Controlled, Crossover GH Trial

2019 ◽  
Vol 104 (9) ◽  
pp. 3931-3938
Author(s):  
Stephany H Donze ◽  
Al W de Weerd ◽  
Renilde A S van den Bossche ◽  
Koen F M Joosten ◽  
Anita C S Hokken-Koelega
Keyword(s):  
Young Adults ◽  
Adult Height ◽  
Uniparental Disomy ◽  
Apnea Hypopnea Index ◽  
Prader Willi Syndrome ◽  
Double Blind ◽  
Sleep Related Breathing Disorders ◽  
Maternal Uniparental Disomy ◽  
Breathing Disorders ◽  
Obstructive Sleep

Abstract Context Sleep-related breathing disorders (SRBD) are common in people with Prader-Willi syndrome (PWS). Young adults with PWS benefit from GH continuation after attaining adult height by maintaining the improved body composition obtained during childhood. There are, no studies about the effects of GH on SRBD in young adults with PWS who were treated with GH during childhood. Objective Investigate the effects of GH vs placebo on SRBD in young adults with PWS who were treated with GH during childhood and had attained adult height. Design Two-year, randomized, double-blind, placebo-controlled, crossover study in 27 young adults with PWS, stratified for sex and body mass index. Setting Dutch PWS Reference Center. Intervention Crossover intervention with GH (0.67 mg/m2/d) and placebo, both over one year. Main Outcome Measures Apnea hypopnea index (AHI), obstructive apnea index (OAI), central apnea index (CAI), measured by polysomnography. Results Compared with placebo, GH did not increase AHI, CAI, or OAI (P &gt; 0.35). The effect of GH vs placebo was neither different between men and women, nor between patients with a deletion or maternal uniparental disomy/imprinting center defect. After two years, there was no difference in AHI, CAI, or OAI compared with baseline (P &gt; 0.18). Two patients (7%) fulfilled the criteria of obstructive sleep apnea regardless of GH or placebo. Conclusions GH compared with placebo does not cause a substantial increase in AHI, CAI, or OAI in adults with PWS who were treated with GH during childhood and have attained adult height. Our findings are reassuring and prove that GH can be administered safely.

scholarly journals Quantitative Analysis of SRNPN Gene Methylation by Pyrosequencing as a Diagnostic Test for Prader–Willi Syndrome and Angelman Syndrome

2006 ◽  
Vol 52 (6) ◽  
pp. 1005-1013 ◽  
Author(s):  
Helen E White ◽  
Victoria J Durston ◽  
John F Harvey ◽  
Nicholas CP Cross
Keyword(s):  
Diagnostic Test ◽  
Angelman Syndrome ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Cpg Sites ◽  
Specific Pcr ◽  
Small Nuclear Ribonucleoprotein ◽  
Maternal Contribution

Abstract Background: Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are 2 distinct neurodevelopmental disorders caused primarily by deficiency of specific parental contributions at an imprinted domain within the chromosomal region 15q11.2-13. In most cases, lack of paternal contribution leads to PWS either by paternal deletion (∼70%) or maternal uniparental disomy (UPD; ∼30%). Most cases of AS result from the lack of a maternal contribution from this same region by maternal deletion (∼70%) or by paternal UPD (∼5%). Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus can differentiate the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS. Methods: Sodium bisulfite–treated genomic DNA was PCR-amplified for the SNRPN gene. We used pyrosequencing to individually quantify the resulting artificial C/T sequence variation at CpG sites. Anonymized DNA samples from PWS patients (n = 40), AS patients (n = 31), and controls (n = 81) were analyzed in a blinded fashion with 2 PCR and 3 pyrosequencing reactions. We compared results from the pyrosequencing assays with those obtained with a commonly used methylation-specific PCR (MS-PCR) diagnostic protocol. Results: The pyrosequencing assays had a sensitivity and specificity of 100% and provided quantification of methylation at 12 CpG sites within the SNRPN locus. The resulting diagnoses were 100% concordant with those obtained from the MS-PCR protocol. Conclusions: Pyrosequencing is a rapid and robust method for quantitative methylation analysis of the SNRPN locus and can be used as a diagnostic test for PWS and AS.

scholarly journals Association of maternal developmental disorder traits with child maltreatment

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
T Fujiwara
Keyword(s):  
Child Maltreatment ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Adult Adhd ◽  
Developmental Disorder ◽  
Rating Scale ◽  
Self Report ◽  
Linear Regression Models ◽  
Maternal Characteristics ◽  
Child Mistreatment

Abstract Objective Maternal mental disorders are known risk factors for child mistreatment. However, little is known about the involvement of maternal developmental disorder traits. The aim of this study was to examine maternal traits related to Pervasive Developmental Disorder (PDD) and Attention Deficit Hyperactivity Disorder (ADHD), and their possible association with child maltreatment. Methods Maternal PDD and ADHD were assessed through a self-administered questionnaire (N = 846) during mid-pregnancy using the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) and Adult ADHD Self-Report Scale (ASRS). The mothers completed another questionnaire on child mistreatment when the offspring was approximately 18 months of age. The associations between maternal PDD and ADHD traits and child maltreatment score were analyzed using linear regression models adjusted for covariates. Results Mothers who exhibited stronger PDD traits showed significantly higher child maltreatment score, even after adjustment for maternal characteristics at baseline and ADHD traits. At the same time, ADHD traits were significantly associated with child maltreatment after adjustment of covariates, although the association became non-significant after adjustment of PDD traits. Conclusions Mothers who showed PDD and ADHD traits during pregnancy were more likely to maltreat their children. It is essential to educate mothers with such traits with appropriate, easy-to-follow childcare instructions, preferably in simple language combined with pictorial aids. Key messages Maternal developmental disorder traits are risk factor of child maltreatment. Specific parenting training intervention for mothers with developmental disorders are needed.

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