N-Acetylcysteine provides limited efficacy as treatment option for skin picking in Prader-Willi syndrome.

Abstract

Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder based on a loss of paternally expressed genes in chromosome region 15q11-13. In addition to typical characteristics such as hyperphagia, PWS is evidenced by a certain behavioral phenotype. Common indicators are repetitive behaviors, temper tantrums, and self-injurious behaviors such as skin- and/or rectal picking. N-Acetylcysteine (NAC) was previously described as a promising therapeutic option for skin picking in PWS. In this case series, we retrospectively investigated the effect of pharmacotherapy with NAC in 14 individuals with PWS suffering from skin- and/or rectal picking. Treatment success was determined using the Clinical Global Impression-Improvement scale (CGI-I). The Clinical Global Impression-Efficacy index (CGI-EI) was used to put treatment success and side effects into perspective. Six of fourteen patients, all of which were female, showed improvement in symptoms (dosage 1800-2400 mg/day), whereas six patients did not show any change during treatment. Moreover, two male patients treated for solitary rectal picking showed new onset of skin picking. Across all cases, a CGI-I of 3 (corresponding to minimal improvement) was seen after 3 months of treatment, with a CGI-EI of 1.6 (corresponding to moderate efficacy). NAC remains a reasonable therapeutic option in certain cases of skin picking in PWS but provides only limited efficacy compared to previous studies on the topic. There was a higher rate of adverse drug reactions than previously reported. The results particularly suggest caution in future treatment in individuals with solitary rectal picking and reduced efficacy when coadministered with neuroleptics.

• Authors: Jelte Wieting, Maximilian Deest, Stefan Bleich, Helge Frieling, Christian Eberlein
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 188 Issue 3 Pg. 828-835 (03 2022) ISSN: 1552-4833 [Electronic] United States
• PMID: 34854203 (Publication Type: Journal Article)
• Copyright: © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

Chemical References

• Acetylcysteine

Topics

• Acetylcysteine (therapeutic use)
• Female
• Humans
• Male
• Mental Disorders
• Prader-Willi Syndrome (complications, drug therapy, genetics)
• Retrospective Studies
• Self-Injurious Behavior (drug therapy, genetics)