A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome

What Was Tested

The paper reports a study of Oxytocin, published as a randomized controlled trial.

Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene and characterized by global developmental delays, deficits in speech and motor function, and autism spectrum disorder (ASD).

Monogenic causes of ASD such as PMS are well suited to investigations with novel therapeutics, as interventions can be targeted based on established genetic etiology.

Who Took Part

By PubMed's age tags, the people studied were young children, children and teenagers.

Eighteen children aged 5-17 with PMS were enrolled.

Participants were randomized to receive intranasal oxytocin or placebo (intranasal saline) and underwent treatment during a 12-week double-blind, parallel group phase, followed by a 12-week open-label extension phase during which all participants received oxytocin.

How the Study Was Run

In design terms this was a randomized, double-blind, open-label, placebo-controlled and parallel-group study.

The participants were allocated by chance, so the Oxytocin group and the comparison group should start out alike.

As a double-blind Oxytocin study, the assignments were hidden from both participants and investigators until the end.

Nothing was hidden in this open-label Oxytocin study: the participants and staff both knew the treatment.

A placebo (an inactive look-alike) gave the Oxytocin group a baseline to be compared against.

The methods mention a period of 12 weeks.

Safety was monitored throughout the study period.

What Was Measured

The small sample size, potential challenges with drug administration, and expectancy bias due to relying on parent reported outcome measures may all contribute to limitations in interpreting results.

PubMed files the paper under topics including Autism Spectrum Disorder, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 22 and Oxytocin.

Author keywords: ASD, PMS, Phelan-McDermid syndrome and Shank3.

What This Means in Plain Language

The paper is a randomized, double-blind and open-label study of Oxytocin over 12 weeks.

Its findings take up roughly 3 sentences of the abstract and are left out here on purpose; the source paper is the place to read them.

The publication is from 2021 (Molecular autism), a journal based in England.

More context: the Oxytocin compound page.