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Discov Ment Health
Discov Ment Health
Discover Mental Health
2731-4383
Springer International Publishing Cham

39256321
94
10.1007/s44192-024-00094-1
Case Study
Pharmacological tightrope: risperidone's balancing act in cri du chat syndrome
Bond Quamaine qcbond@gmail.com

Agrawal Himanshu
https://ror.org/00qqv6244 grid.30760.32 0000 0001 2111 8460 Department of Psychiatry and Behavioral Medicine, Medical College of Wisconsin, Milwaukee, WI USA
10 9 2024
10 9 2024
12 2024
4 1 3514 6 2024
4 9 2024
© The Author(s) 2024
2024
https://creativecommons.org/licenses/by-nc-nd/4.0/ Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.
Background

This case report describes an infrequent instance of risperidone-induced hyperprolactinemia in a 23-year-old nonverbal male with cri du chat syndrome.

Case presentation

Risperidone, initially prescribed to manage aggressive behaviors, resulted in bilateral gynecomastia and hyperprolactinemia. Tapering of risperidone led to resolution of these symptoms but exposed a resurgence of excessive masturbation, a behavior previously suppressed by the medication. Reintroduction of risperidone controlled this behavior, suggesting its potential role in managing compulsive behaviors in this population.

Conclusion

This case underscores the complex interaction between pharmacological treatment and behavioral symptoms in neurodevelopmental disorders. It highlights the necessity for meticulous monitoring and individualized treatment approaches in managing such cases.

Case presentation

Initially prescribed for managing aggressive behaviors, Risperidone led to bilateral gynecomastia and hyperprolactinemia in the patient. Gradual tapering of Risperidone alleviated these symptoms but unveiled a resurgence of excessive masturbation, a behavior previously suppressed by the medication. Reintroduction of Risperidone mitigated this behavior, suggesting its potential efficacy in managing compulsive tendencies in this demographic.

Conclusion

This case highlights the intricate interplay between pharmacological interventions and the complex behavioral manifestations of neurodevelopmental disorders. It underscores the importance of vigilant monitoring and personalized treatment strategies in such cases.

issue-copyright-statement© Springer Nature Switzerland AG 2024
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pmcIntroduction

Cri du chat syndrome, colloquially termed 'cat’s cry' syndrome, is distinguished by the distinct high-pitched cry observed in neonates postpartum, which gradually diminishes in intensity with advancing infancy [2]. This syndrome results from a deletion on the short arm of chromosome 5, and the spectrum of manifestations is contingent upon the locus and magnitude of the chromosomal anomaly [3]. Clinical presentations encompass low birth weight, microcephaly, epicanthal folds, developmental delay, intellectual disabilities, and muscular hypertonia [4]. Notably, while concrete risk factors for cri du chat remain unknown due to its sporadic mutational pattern, advanced maternal age presents as a possible correlated factor. Women over 35 exhibit heightened susceptibility to genetic aberrations during egg formation, which may contribute to the occurrence of this syndrome [6].

Managing cri du chat syndrome demands a comprehensive multidisciplinary approach. This includes integrating early intervention initiatives and therapeutic modalities spanning physical, occupational, and speech therapy, which aim to ameliorate motor skills, communication deficits, and cognitive development [5]. Pharmacological interventions are often necessary to address associated comorbidities such as gastroesophageal reflux disease, constipation, and respiratory infections [1]. Among the behavioral manifestations are hyperactivity, aggression, and irritability, for which antipsychotic agents like risperidone are primary pharmacotherapeutic options [6]. Despite ongoing advancements in supportive care and symptomatic management, there is currently no cure for the condition [6].

Case report

The patient is a 23-year-old nonverbal male who was 16 years old when he first presented to the outpatient psychiatric clinic. He had a medical history notable for global developmental delays, cri du chat syndrome (confirmed by chromosomal analysis), severe intellectual disability, chronic constipation, gastroesophageal reflux disease, and severe behavioral disturbances and impulsivity. The patient was diagnosed with autism spectrum disorder based on a constellation of symptoms (speech delays, lack of social reciprocity, multiple sensory issues, rigid adherence to non-functional routines, idiosyncratic interests, and stereotypic behaviors including but not limited to hand flapping, rocking, and head banging).

The patient was raised in a loving, and highly-attuned family and had been receiving a plethora of psychosocial services (which included, but was not limited to- focused case management, Personal Care Attendant services, Applied Behavioral Analysis therapy, family counseling, group support groups for caregivers, transportation services and services related to communication devices and safety devices such as braces and helmets). In spite of these services, the patient had residual aggressive behaviors including hitting and biting self (to the point where he would bleed). In order to target these behaviors, Risperidone was added to their biopsychosocial regime at age 13. The patient had a history of genital manipulation and masturbation dating back to age 10; however, these behaviors subsided around the same time that the dose of risperidone was optimized. The patient began at a dose of 1 mg oral solution by mouth daily, and the dosage was incrementally raised by 0.5 mg over one year, reaching a maximum of 3 mg by mouth daily. Unfortunately, on the 3 mg dose of risperidone, the patient started grabbing and squeezing at his chest area. On examination, inspection revealed bilateral gynecomastia and palpation elicited bilateral galactorrhea. Blood tests confirmed a diagnosis of hyperprolactinemia (68.9 ng/ml; normal range 2.8–23.3 ng/ml). Therefore, a working diagnosis of risperidone-induced hyperprolactinemia was made, and risperidone was gradually tapered over the next 6 months without the emergence of any hitting or biting behaviors. Follow-up prolactin levels gradually returned to the normal range, thus confirming the diagnosis of risperidone-induced hyperprolactinemia.

Interestingly, within 4 weeks of stopping risperidone, the patient began fondling his genitals, which evolved into excessive masturbation almost all day long. It was hypothesized that risperidone may have been managing this behavior, which predated the initial initiation of risperidone at age 13. When risperidone was restarted and titrated up to a dose of 0.5 mg orally at bedtime, the patient ceased engaging in excessive masturbation, and prolactin levels remained within the normal range.

Discussion

This case underscores the nuanced challenges clinicians face when treating nonverbal individuals with complex syndromes. The patient experienced hyperprolactinemia and gynecomastia as side effects of risperidone, highlighting the importance of understanding medication impacts in such populations.

When managing medication for nonverbal individuals with multifaceted syndromes, clinicians must exercise heightened vigilance. The complexity of these syndromes often means that symptoms are interrelated, and changes in medication to address one symptom can inadvertently unmask or exacerbate other symptoms. In this case, altering risperidone to manage a particular side effect led to the emergence of additional symptoms, underscoring the delicate balance required in such treatments.

Future research should further investigate the interconnected nature of symptoms in this patient population and explore strategies for managing medication that minimize the risk of unmasking new symptoms. Specifically, longitudinal studies could provide insights into the long-term impacts of medication changes in nonverbal individuals with complex syndromes. Additionally, exploring pharmacogenomic factors could help tailor treatments to individual patients' genetic profiles, potentially reducing adverse effects.

Clinicians should also consider involving multidisciplinary teams to provide holistic and comprehensive care, supported by therapeutic drug monitoring, and ensure that all potential impacts of medication changes are carefully evaluated. By expanding our understanding of these interactions, we can improve treatment protocols and enhance the quality of care for nonverbal individuals with complex syndromes, ultimately leading to better patient outcomes and more precise management of their needs.

Author contribution

All authors contributed to the conception and design of the case study. The first draft of the manuscript was written by Quamaine Bond, B.S., who is also the corresponding author. We would also like to acknowledge that author Himanshu Agrawal, M.D., made significant contributions to the manuscript, including discussion and revisions for this submission. All authors read and approved the final manuscript.

Funding

The authors did not receive support from any organization for the submitted work.

Data availability

The datasets used and/or analyzed during the current study available from the corresponding author on reasonable request.

Code availability

Not applicable.

Declarations

Ethics approval and consent to participate

This case report meets criteria for a waiver as determined by the protocol by The IRB department at medical College of Wisconsin. All methods were carried out in accordance with relevant guidelines and regulations. The IRB at MCW does not require informed consent from the guardian, however if the journal requires it, we will be happy to get the written informed consent.

Informed consent

Informed consent was obtained from the patient described in this case report. To protect confidentiality, identifying details have been altered. The patient understood and agreed that anonymized data from their medical records would be used for publication. They were assured of confidentiality and their right to withdraw consent at any time.

Competing interests

The authors declare that they have no conflicts of interest related to this research study. No financial or non-financial interests have influenced the design, conduct, interpretation, or reporting of this study. This includes any financial affiliations, employment, consultancies, patents, or any other potential conflicts that could be perceived as influencing the work presented in this manuscript.

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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