N-Acetylcysteine for Neuropsychiatric Symptoms in a Woman With Williams Syndrome

Pineiro, Mildred Lopez; Roberts, Antoinette M.; Waxler, Jessica L.; Mullett, Jennifer; Pober, Barbara R.; McDougle, Christopher J.

doi:10.1177/0883073813512025

Cited by 4 publications

(4 citation statements)

References 15 publications

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“…Patients with Williams syndrome, a genetic disorder caused by a microdeletion in chromosome 7q11.23, commonly present with neuropsychiatric disorders [ 22 ]. A case report is published on the successful treatment with NAC (1800 mg/day) of a 19-year-old female with Williams syndrome who developed anger, aggression, and hair-pulling following a psychotic episode precipitated by a gastroscopy in which she was sedated with fentanyl, midazolam, and propofol [ 22 ]. The patient’s behavior improved within 2 days of NAC treatment and she had continued NAC for 14 months by the time of publication [ 22 ].…”

Section: Neurodevelopmental Disordersmentioning

confidence: 99%

“…A case report is published on the successful treatment with NAC (1800 mg/day) of a 19-year-old female with Williams syndrome who developed anger, aggression, and hair-pulling following a psychotic episode precipitated by a gastroscopy in which she was sedated with fentanyl, midazolam, and propofol [ 22 ]. The patient’s behavior improved within 2 days of NAC treatment and she had continued NAC for 14 months by the time of publication [ 22 ]. The authors believed NAC was having its effect by normalizing the glutaminergic system, which is abnormal in Williams syndrome and was further altered by propofol [ 22 ].…”

Section: Neurodevelopmental Disordersmentioning

confidence: 99%

“…The patient’s behavior improved within 2 days of NAC treatment and she had continued NAC for 14 months by the time of publication [ 22 ]. The authors believed NAC was having its effect by normalizing the glutaminergic system, which is abnormal in Williams syndrome and was further altered by propofol [ 22 ].…”

Section: Neurodevelopmental Disordersmentioning

confidence: 99%

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The Potential of N-Acetyl-L-Cysteine (NAC) in the Treatment of Psychiatric Disorders

et al. 2022

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N -acetyl-L-cysteine (NAC) is a compound of increasing interest in the treatment of psychiatric disorders. Primarily through its antioxidant, anti-inflammatory, and glutamate modulation activity, NAC has been investigated in the treatment of neurodevelopmental disorders, schizophrenia spectrum disorders, bipolar-related disorders, depressive disorders, anxiety disorders, obsessive compulsive-related disorders, substance-use disorders, neurocognitive disorders, and chronic pain. Whilst there is ample preclinical evidence and theoretical justification for the use of NAC in the treatment of multiple psychiatric disorders, clinical trials in most disorders have yielded mixed results. However, most studies have been underpowered and perhaps too brief, with some evidence of benefit only after months of treatment with NAC. Currently NAC has the most evidence of having a beneficial effect as an adjuvant agent in the negative symptoms of schizophrenia, severe autism, depression, and obsessive compulsive and related disorders. Future research with well-powered studies that are of sufficient length will be critical to better understand the utility of NAC in the treatment of psychiatric disorders.

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Section: Neurodevelopmental Disordersmentioning

confidence: 99%

Section: Neurodevelopmental Disordersmentioning

confidence: 99%

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The Potential of N-Acetyl-L-Cysteine (NAC) in the Treatment of Psychiatric Disorders

et al. 2022

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“…Both subjects showed improvement but discontinued the drug due to gastrointestinal lesions. Open-label N-acetyl cysteine was beneficial for improving psychotic symptoms and mood lability, likely induced by an anesthetic, in an adult woman with WS (Pineiro et al, 2014). WS is associated with a characteristic cognitive phenotype: relative strengths in verbal abilities and non-verbal reasoning abilities accompanied by considerable weakness in visuospatial abilities (Mervis & John, 2010).…”

Section: Glucose Metabolism Abnormalitiesmentioning

confidence: 99%

The proceedings of the 15th professional conference on Williams Syndrome

Walton

Martens

Pober

2017

American J of Med Genetics Pt A

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Williams Syndrome (WS) is a contiguous gene deletion disorder, caused by the deletion of approximately 26-28 genes from chromosome 7 (7q11.23). Individuals with WS have complex medical, developmental, and behavioral features, requiring multidisciplinary and interdisciplinary collaboration. Guidelines detailing the identification, evaluation, and monitoring of individuals with WS need clarification, especially for primary care providers who are first-line in their management. This report summarizes the proceedings of the 2016 Professional Conference on WS in Columbus, OH. Presentations were directed towards primary care providers and subspecialists, emphasizing evidence-based practices for treating the prevalent medical and behavioral features of WS. Included in this report are findings from a panel of cardiovascular experts discussing three case studies on treatment of hypertension and the use of sedation or anesthesia for non-cardiac procedures. Abstracts from individual expert presenters are included, covering various medical and behavioral topics, and providing updates in management of WS individuals. The following topics were discussed: differences in phenotypes of 7q11.23 deletion versus duplication, growth parameters, endocrine concerns, sleep difficulties, behaviors to monitor, and pharmacological options, the neurodevelopmental profile of WS individuals, and the importance of monitoring medical and behavioral concerns as WS individuals transition to adulthood.

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Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series

Valdés

Keary

Mullett

et al. 2017

J Autism Dev Disord

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Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously unreported adults with WS diagnosed with co-morbid MDD with psychotic features. Co-morbid medical disorders common in WS are highlighted with regard to safe and appropriate pharmacological treatment. The importance of assessment for co-morbid MDD with psychotic features in individuals with WS is emphasized.

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N-Acetylcysteine for Neuropsychiatric Symptoms in a Woman With Williams Syndrome

Cited by 4 publications

References 15 publications

The Potential of N-Acetyl-L-Cysteine (NAC) in the Treatment of Psychiatric Disorders

The Potential of N-Acetyl-L-Cysteine (NAC) in the Treatment of Psychiatric Disorders

The proceedings of the 15th professional conference on Williams Syndrome

Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series

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