Rice Lauren J, Einfeld Stewart L
aFaculty of Health Science bBrain and Mind Research Institute cCentre for Disability Research and Policy, The University of Sydney, Sydney, New South Wales, Australia.
Curr Opin Psychiatry. 2015 Mar;28(2):102-6. doi: 10.1097/YCO.0000000000000135.
To provide a review of the recent advances in the diagnosis and treatment of psychiatric disorders in Prader-Willi syndrome (PWS).
Research in the last 12 months has provided a descriptive prognosis of psychosis in PWS and highlighted the possible genes associated with the increased risk of psychosis for those with maternal uniparental disomy (mUPD). Several studies investigating social and communication skills have shown people with PWS to have difficulty with core, receptive and expressive language skills, interpreting emotional valence in faces, playing with children of their own age, understanding personal space and a developmental delay in the theory of mind. These social and communication deficits are often more pronounced in those with mUPD. Two recent clinical trials of oxytocin provide mixed results and highlight the need for an improved understanding of the neurobiological characteristics of the PWS brain. A recent pilot study suggests N-acetylcysteine may be a viable treatment for skin picking.
Recent advances have contributed to our understanding of the emotional and behavioural problems associated with PWS, and provided directions for further research.
对普拉德-威利综合征(PWS)精神障碍诊断与治疗的最新进展进行综述。
过去12个月的研究给出了PWS中精神病的描述性预后,并突出了与母源单亲二体(mUPD)患者精神病风险增加相关的可能基因。多项调查社交和沟通技能的研究表明,PWS患者在核心、接受性和表达性语言技能、解读面部情绪效价、与同龄人玩耍、理解个人空间以及心理理论方面存在发育延迟等方面存在困难。这些社交和沟通缺陷在mUPD患者中往往更为明显。最近两项催产素临床试验结果不一,凸显了深入了解PWS大脑神经生物学特征的必要性。一项近期的初步研究表明,N-乙酰半胱氨酸可能是治疗拔皮症的一种可行疗法。
最近的进展有助于我们理解与PWS相关的情绪和行为问题,并为进一步研究指明了方向。