4.7 Review

Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

Related references

Note: Only part of the references are listed.
News Item Clinical Neurology

Refining oxytocin therapy for autism: context is key

Charles L. Ford et al.

Summary: The recent clinical trial showed that chronic intranasal oxytocin does not have a direct impact on social behavior in children with autism spectrum disorders. Future trials should combine oxytocin with behavioral therapy to enhance learning and improve social behavior.

NATURE REVIEWS NEUROLOGY (2022)

Review Biochemistry & Molecular Biology

Brain oxytocin: how puzzle stones from animal studies translate into psychiatry

Valery Grinevich et al.

Summary: Oxytocin has attracted attention from the general public, basic neuroscience researchers, psychologists, and psychiatrists for its important social, anxiolytic, and anti-stress behavioral and physiological effects. Significant progress has been made in understanding the oxytocin system, but further research is needed to fully grasp its actions.

MOLECULAR PSYCHIATRY (2021)

Review Psychology, Developmental

Oxytocin levels tend to be lower in autistic children: A meta-analysis of 31 studies

Simon John et al.

Summary: Studies suggest that children with autism spectrum disorder have lower blood oxytocin levels compared to neurotypical individuals, supporting further research into using oxytocin to treat social deficits in children.

AUTISM (2021)

Article Endocrinology & Metabolism

Oxytocin in young children with Prader-Willi syndrome: Results of a randomized, double-blind, placebo-controlled, crossover trial investigating 3 months of oxytocin

Layla Damen et al.

Summary: The study on the effects of intranasal oxytocin treatment on children with Prader-Willi syndrome showed positive effects on social and eating behavior, especially in boys aged 3-11 years and in children with a deletion, with no safety concerns. However, individual effects should be carefully evaluated.

CLINICAL ENDOCRINOLOGY (2021)

Article Multidisciplinary Sciences

Reverse-translational identification of a cerebellar satiation network

Aloysius Y. T. Low et al.

Summary: Activity in anterior deep cerebellar nuclei reduces food consumption in mice without reducing metabolic rate, potentially identifying a therapeutic target for disorders involving excessive eating. The study defines a conserved satiation center that may represent a novel therapeutic target for the management of excessive eating.

NATURE (2021)

Article Medicine, General & Internal

Intranasal Oxytocin in Children and Adolescents with Autism Spectrum Disorder

L. Sikich et al.

Summary: A randomized trial involving 290 participants with autism spectrum disorder showed that daily use of intranasal oxytocin did not improve social interaction over a period of 24 weeks. Overall, there were no significant between-group differences in social or cognitive functioning between the oxytocin and placebo groups.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

Article Neurosciences

Astrocytes mediate the effect of oxytocin in the central amygdala on neuronal activity and affective states in rodents

Jerome Wahis et al.

Summary: This study reveals a morphologically distinct subpopulation of astrocytes expressing OT receptors in the central amygdala of mice and rats, mediating the anxiolytic and positive reinforcement effects of OT. It challenges the traditional belief that OT exclusively acts on neurons, highlighting the essential role of astrocytes in modulating emotional states under normal and chronic pain conditions.

NATURE NEUROSCIENCE (2021)

Article Neurosciences

Oxytocin, Neural Plasticity, and Social Behavior

Robert C. Froemke et al.

Annual Review of Neuroscience (2021)

Article Medicine, General & Internal

Food-Related Brain Activation Measured by fMRI in Adults with Prader-Willi Syndrome

Ingrid Caroline van Nieuwpoort et al.

Summary: Individuals with PWS exhibit abnormal food-related brain activation in the fasting state. Leptin is positively associated with activation within the neural motivation/reward circuitry, while glucose shows a negative correlation.

JOURNAL OF CLINICAL MEDICINE (2021)

Article Endocrinology & Metabolism

Identification of peripheral oxytocin-expressing cells using systemically applied cell-type specific adeno-associated viral vector

Luis Paiva et al.

Summary: The study confirmed the expression of oxytocin in the gastrointestinal tract, pancreas, and testes of adult rats, and successfully labeled oxytocin-producing cells through systemic injection of a recombinant adeno-associated virus vector. Some neurons in the enteric nervous system expressed oxytocin in ganglia, while oxytocin expression was also detected in the islets of Langerhans in the pancreas and Leydig cells in the testes.

JOURNAL OF NEUROENDOCRINOLOGY (2021)

Article Psychiatry

Intranasal oxytocin versus placebo for hyperphagia and repetitive behaviors in children with Prader-Willi Syndrome: A randomized controlled pilot trial

Eric Hollander et al.

Summary: In children and adolescents with Prader Willi Syndrome, placebo showed modest improvement in hyperphagia and repetitive behaviors, while intranasal oxytocin did not show improvement in these areas. Further research is needed to understand the implications and mechanisms of these findings.

JOURNAL OF PSYCHIATRIC RESEARCH (2021)

Review Medicine, Research & Experimental

Challenges in adeno-associated virus-based treatment of central nervous system diseases through systemic injection

Lan Huang et al.

Summary: Systemic injections of AAV have shown promise in treating CNS diseases, but face challenges like crossing the BBB efficiently, peripheral toxicity, and immune barriers. Finding feasible solutions to these challenges is crucial.

LIFE SCIENCES (2021)

Article Biochemistry & Molecular Biology

The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism

Matthea R. Sanderson et al.

Summary: MAGEL2 protein may form biomolecular condensates through liquid-liquid phase separation, potentially involved in RNA metabolism and regulation of mRNAs modified by m(6)A methylation. The study provides mechanistic insights into pathogenic MAGEL2 mutations associated with Schaaf-Yang syndrome and related disorders.

JOURNAL OF BIOLOGICAL CHEMISTRY (2021)

Review Endocrinology & Metabolism

The multiple faces of the oxytocin and vasopressin systems in the brain

Valery Grinevich et al.

Summary: Traditionally, hypothalamic neuroendocrine cells were classified into magnocellular and parvocellular neurons for hormone release and brain circuit regulation purposes respectively. However, recent studies show these classic projections are outdated, with oxytocin and vasopressin released in the brain from dendrites and distant axon varicosities to modulate information transfer through conventional synapses.

JOURNAL OF NEUROENDOCRINOLOGY (2021)

Article Biochemistry & Molecular Biology

Oxytocin administration in neonates shapes hippocampal circuitry and restores social behavior in a mouse model of autism

Alessandra Bertoni et al.

Summary: This study elucidated the co-expression of Magel2 and oxytocin receptor in hippocampal regions, demonstrating social memory deficits in Magel2(tm1.1Mus)-deficient mice. The research further revealed that oxytocin administration can restore the deficits and impact the development of the GABAergic system and phosphorylation modifications of KCC2.

MOLECULAR PSYCHIATRY (2021)

Review Neurosciences

Tissue clearing and its applications in neuroscience

Hiroki R. Ueda et al.

NATURE REVIEWS NEUROSCIENCE (2020)

Article Genetics & Heredity

The adult phenotype of Schaaf-Yang syndrome

Felix Marbach et al.

ORPHANET JOURNAL OF RARE DISEASES (2020)

Article Multidisciplinary Sciences

Single cell RNA sequencing of human microglia uncovers a subset associated with Alzheimer's disease

Marta Olah et al.

NATURE COMMUNICATIONS (2020)

Article Multidisciplinary Sciences

Oxytocin pathway gene networks in the human brain

Daniel S. Quintana et al.

NATURE COMMUNICATIONS (2019)

Review Medicine, Research & Experimental

Preclinical Testing in Translational Animal Models of Prader-Willi Syndrome: Overview and Gap Analysis

K. Vanessa Carias et al.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2019)

Article Multidisciplinary Sciences

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome

Emeline Crutcher et al.

SCIENTIFIC REPORTS (2019)

Article Multidisciplinary Sciences

Intranasal oxytocin selectively modulates the behavior of rhesus monkeys in an expression matching task

Jessica Taubert et al.

SCIENTIFIC REPORTS (2019)

Review Endocrinology & Metabolism

Diversity of oxytocin neurones: Beyond magno- and parvocellular cell types?

F. Althammer et al.

JOURNAL OF NEUROENDOCRINOLOGY (2018)

Article Medicine, Research & Experimental

Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome

Joseph Polex-Wolf et al.

JOURNAL OF CLINICAL INVESTIGATION (2018)

Article Genetics & Heredity

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome

John M. McCarthy et al.

JOURNAL OF MEDICAL GENETICS (2018)

Review Physiology

THE OXYTOCIN RECEPTOR: FROM INTRACELLULAR SIGNALING TO BEHAVIOR

Benjamin Jurek et al.

PHYSIOLOGICAL REVIEWS (2018)

Article Genetics & Heredity

Schaaf-Yang syndrome overview: Report of 78 individuals

John McCarthy et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Neurosciences

Oxytocin Transforms Firing Mode of CA2 Hippocampal Neurons

Natasha N. Tirko et al.

NEURON (2018)

Review Psychiatry

A review of clinical trials of oxytocin in Prader-Willi syndrome

Lauren J. Rice et al.

CURRENT OPINION IN PSYCHIATRY (2018)

Article Medicine, Research & Experimental

Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome

Elisabeth M. Dykens et al.

JCI INSIGHT (2018)

Article Genetics & Heredity

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain et al.

GENETICS IN MEDICINE (2017)

Article Behavioral Sciences

Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty

M. D. Fountain et al.

GENES BRAIN AND BEHAVIOR (2017)

Article Clinical Neurology

Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome

Elisabeth M. Dykens et al.

JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2017)

Article Multidisciplinary Sciences

Intranasal oxytocin treatment for social deficits and biomarkers of response in children with autism

Karen J. Parker et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Multidisciplinary Sciences

Early rearing history influences oxytocin receptor epigenetic regulation in rhesus macaques

Maggie Baker et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Review Pharmacology & Pharmacy

The Action Radius of Oxytocin Release in the Mammalian CNS: From Single Vesicles to Behavior

Bice Chini et al.

TRENDS IN PHARMACOLOGICAL SCIENCES (2017)

Review Biochemistry & Molecular Biology

Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2

Klementina Fon Tacer et al.

BIOCHEMICAL JOURNAL (2017)

Article Genetics & Heredity

Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study

Jennifer L. Miller et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

Article Neurosciences

Oxytocin Facilitates Pavlovian Fear Learning in Males

Monika Eckstein et al.

NEUROPSYCHOPHARMACOLOGY (2016)

Review Neurosciences

Oxytocin in General Anxiety and Social Fear: A Translational Approach

Inga D. Neumann et al.

BIOLOGICAL PSYCHIATRY (2016)

Review Neurosciences

Assembling the Puzzle: Pathways of Oxytocin Signaling in the Brain

Valery Grinevich et al.

BIOLOGICAL PSYCHIATRY (2016)

Review Neurosciences

Intranasal Oxytocin: Myths and Delusions

Gareth Leng et al.

BIOLOGICAL PSYCHIATRY (2016)

Review Anatomy & Morphology

Prader-Willi Syndrome: A Spectrum of Anatomical and Clinical Features

Bradley J. Hurren et al.

CLINICAL ANATOMY (2016)

Article Endocrinology & Metabolism

Comparative Perspectives on Oxytocin and Vasopressin Receptor Research in Rodents and Primates: Translational Implications

Sara M. Freeman et al.

JOURNAL OF NEUROENDOCRINOLOGY (2016)

Article Biochemistry & Molecular Biology

Developmental timing and critical windows for the treatment of psychiatric disorders

Oscar Marin

NATURE MEDICINE (2016)

Article Biochemical Research Methods

Shrinkage-mediated imaging of entire organs and organisms using uDISCO

Chenchen Pan et al.

NATURE METHODS (2016)

Article Biochemical Research Methods

Using single nuclei for RNA-seq to capture the transcriptome of postmortem neurons

Suguna Rani Krishnaswami et al.

NATURE PROTOCOLS (2016)

Article Neurosciences

Reversal of social deficits by subchronic oxytocin in two autism mouse models

Brian L. Teng et al.

NEUROPHARMACOLOGY (2016)

Article Genetics & Heredity

Autism Spectrum Disorder in Prader-Willi Syndrome: A Systematic Review

Jeffrey A. Bennett et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

Article Neurosciences

Oxytocin Facilitates the Extinction of Conditioned Fear in Humans

Monika Eckstein et al.

BIOLOGICAL PSYCHIATRY (2015)

Article Multidisciplinary Sciences

A survey of human brain transcriptome diversity at the single cell level

Spyros Darmanis et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

Article Endocrinology & Metabolism

Acute and repeated intranasal oxytocin administration exerts anti-aggressive and pro-affiliative effects in male rats

Federica Calcagnoli et al.

PSYCHONEUROENDOCRINOLOGY (2015)

Review Endocrinology & Metabolism

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

M. A. Angulo et al.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2015)

Article Biochemistry & Molecular Biology

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome

Eric Bieth et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

A Double-Blind Randomized Controlled Trial of Oxytocin Nasal Spray in Prader Willi Syndrome

Stewart L. Einfeld et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Review Behavioral Sciences

Autism, oxytocin and interoception

E. Quattrocki et al.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2014)

Article Psychology, Developmental

Nasal Oxytocin for Social Deficits in Childhood Autism: A Randomized Controlled Trial

Mark R. Dadds et al.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2014)

Article Genetics & Heredity

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

Christian P. Schaaf et al.

NATURE GENETICS (2013)

Article Neurosciences

Prosocial effects of oxytocin in two mouse models of autism spectrum disorders

Brian L. Teng et al.

NEUROPHARMACOLOGY (2013)

Article Multidisciplinary Sciences

Oxytocin enhances brain function in children with autism

Ilanit Gordon et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Psychology, Clinical

Intranasal oxytocin increases covert attention to positive social cues

G. Domes et al.

PSYCHOLOGICAL MEDICINE (2013)

Article Endocrinology & Metabolism

Intranasal oxytocin selectively attenuates rhesus monkeys' attention to negative facial expressions

Lisa A. Parr et al.

PSYCHONEUROENDOCRINOLOGY (2013)

Article Endocrinology & Metabolism

Increased brain and plasma oxytocin after nasal and peripheral administration in rats and mice

Inga D. Neumann et al.

PSYCHONEUROENDOCRINOLOGY (2013)

Article Endocrinology & Metabolism

Oxytocin, Feeding, and Satiety

Nancy Sabatier et al.

Frontiers in Endocrinology (2013)

Article Multidisciplinary Sciences

Deconstruction of a neural circuit for hunger

Deniz Atasoy et al.

NATURE (2012)

Review Neurosciences

Oxytocin and vasopressin in the human brain: social neuropeptides for translational medicine

Andreas Meyer-Lindenberg et al.

NATURE REVIEWS NEUROSCIENCE (2011)

Review Neurosciences

Autism: A Critical Period Disorder?

Jocelyn J. LeBlanc et al.

NEURAL PLASTICITY (2011)

Article Neurosciences

Intranasal Oxytocin Improves Emotion Recognition for Youth with Autism Spectrum Disorders

Adam J. Guastella et al.

BIOLOGICAL PSYCHIATRY (2010)

Article Neurosciences

Oxytocin Attenuates Amygdala Reactivity to Fear in Generalized Social Anxiety Disorder

Izelle Labuschagne et al.

NEUROPSYCHOPHARMACOLOGY (2010)

Article Multidisciplinary Sciences

Promoting social behavior with oxytocin in high-functioning autism spectrum disorders

Elissar Andari et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Endocrinology & Metabolism

Effects of intranasal oxytocin on emotional face processing in women

Gregor Domes et al.

PSYCHONEUROENDOCRINOLOGY (2010)

Article Medicine, Research & Experimental

Outcome based subgroup analysis: a neglected concern

Karim F. Hirji et al.

TRIALS (2009)

Review Cardiac & Cardiovascular Systems

Neuroendocrine control of food intake

Elena Valassi et al.

NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES (2008)

Review Multidisciplinary Sciences

Oxytocin, Vasopressin, and the Neurogenetics of Sociality

Zoe R. Donaldson et al.

SCIENCE (2008)

Article Genetics & Heredity

The imprinted gene Magel2 regulates normal circadian output

Serguei V. Kozlov et al.

NATURE GENETICS (2007)

Article Neurosciences

Oxytocin increases retention of social cognition in autism

Eric Hollander et al.

BIOLOGICAL PSYCHIATRY (2007)

Review Neurosciences

Dendritic peptide release and peptide-dependent behaviours

M Ludwig et al.

NATURE REVIEWS NEUROSCIENCE (2006)

Article Endocrinology & Metabolism

Neural representations of hunger and satiety in Prader-Willi syndrome

EC Hinton et al.

INTERNATIONAL JOURNAL OF OBESITY (2006)

Article Neurosciences

Oxytocin modulates neural circuitry for social cognition and fear in humans

P Kirsch et al.

JOURNAL OF NEUROSCIENCE (2005)

Article Endocrinology & Metabolism

Intranasal oxytocin administration attenuates the ACTH stress response in monkeys

KJ Parker et al.

PSYCHONEUROENDOCRINOLOGY (2005)

Article Neurosciences

Brain oxytocin correlates with maternal aggression: Link to anxiety

OJ Bosch et al.

JOURNAL OF NEUROSCIENCE (2005)

Article Multidisciplinary Sciences

Oxytocin increases trust in humans

M Kosfeld et al.

NATURE (2005)

Article Clinical Neurology

Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI

NA Shapira et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2005)

Review Neurosciences

The neurobiology of pair bonding

LJ Young et al.

NATURE NEUROSCIENCE (2004)

Review Physiology

The Oxytocin Receptor System: Structure, function, and regulation

G Gimpl et al.

PHYSIOLOGICAL REVIEWS (2001)