Mahmoud Ranim, Swanson Heidi D, Butler Merlin G, Flodman Pamela, Gold June-Anne, Miller Jennifer L, Roof Elizabeth, Osann Kathryn, Dykens Elisabeth, Driscoll Daniel J, Kimonis Virginia
Department of Pediatrics, University of California, Irvine, CA 92697, USA.
Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura 35516, Egypt.
J Clin Med. 2022 May 4;11(9):2572. doi: 10.3390/jcm11092572.
Prader-Willi syndrome (PWS) is a complex genetic disorder with three genetic classes. Patients with PWS are characterized by severe hypotonia, developmental delay, behavioral problems, learning disabilities and morbid obesity in early childhood if untreated. Data were collected through Rare Disease Clinical Research Network (RDCRN) from four study centers which evaluated patients with PWS. The Behavior Assessment System for Children 2nd edition (BASC-2) was chosen to provide behavioral assessment. Data from 330 participants ((64% 15q11-q13 deletion (DEL), 36% maternal disomy 15 (UPD)) were separated into three age groups and analyzed, 68% of whom were still actively receiving recombinant human growth hormone (rhGH) treatment. When comparing the BASC results by molecular subtype, parent-reported aggression was higher for the deletion than for the UPD cohort ( = 0.007). Participants who were on rhGH treatment showed lower scores for parent-reported hyperactivity and aggression ( = 0.04, 0.04, respectively), and a trend for anger control ( = 0.06) and teacher-reported attention problems and aggression ( = 0.01, 0.004, respectively). Additional adjusted analyses were undertaken and significant differences were noted in the GH versus non-GH treated groups for only teacher-reported aggression, which increased in the No GH treated patient group ( 0.03). This study showed documented differences in PWS behavior by molecular class and rhGH treatment. RhGH therapy may be beneficial for certain behaviors in patients with PWS; however, observed differences need more studies for confirmation in the future.
普拉德-威利综合征（PWS）是一种具有三种遗传类型的复杂遗传性疾病。未经治疗的PWS患者在幼儿期的特征为严重肌张力减退、发育迟缓、行为问题、学习障碍和病态肥胖。通过罕见病临床研究网络（RDCRN）从四个评估PWS患者的研究中心收集了数据。选择儿童行为评估系统第二版（BASC-2）进行行为评估。将来自330名参与者（64%为15q11-q13缺失（DEL），36%为母源单亲二倍体15（UPD））的数据分为三个年龄组并进行分析，其中68%仍在积极接受重组人生长激素（rhGH）治疗。按分子亚型比较BASC结果时，缺失组中家长报告的攻击性行为高于UPD队列（P = 0.007）。接受rhGH治疗的参与者在家长报告的多动和攻击性行为方面得分较低（分别为P = 0.04，0.04），在愤怒控制方面有下降趋势（P = 0.06），在教师报告的注意力问题和攻击性行为方面也较低（分别为P = 0.01，0.004）。进行了额外的校正分析，结果显示仅在教师报告的攻击性行为方面，生长激素治疗组与非生长激素治疗组存在显著差异，未接受生长激素治疗的患者组该行为增加（P = 0.03）。本研究表明，PWS行为在分子类型和rhGH治疗方面存在差异。rhGH治疗可能对PWS患者的某些行为有益；然而，观察到的差异未来需要更多研究来证实。
