Psychiatric manifestations of Kleefstra syndrome: a case report

Kazunari Yoshida; Daniel J Müller; Pushpal Desarkar

doi:10.3389/fpsyt.2023.1174195

Psychiatric manifestations of Kleefstra syndrome: a case report

Front Psychiatry. 2023 Jul 27:14:1174195. doi: 10.3389/fpsyt.2023.1174195. eCollection 2023.

Authors

Kazunari Yoshida^{1

2

3}, Daniel J Müller^{2

4

5

6}, Pushpal Desarkar^{1

4

5

7}

Affiliations

¹ Azrieli Adult Neurodevelopmental Centre, Centre for Addiction and Mental Health, Toronto, ON, Canada.
² Tanenbaum Centre for Pharmacogenetics, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.
³ Department of Neuropsychiatry, Keio University School of Medicine, Tokyo, Japan.
⁴ Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
⁵ Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
⁶ Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital of Würzburg, Würzburg, Germany.
⁷ Adult Neurodevelopmental Services, Centre for Addiction and Mental Health, Toronto, ON, Canada.

Abstract

Background: Kleefstra syndrome is a rare genetic condition, which affects at least 1 in 120,000 individuals who have a neurodevelopmental disorder, characterized by the core clinical phenotype of intellectual disability, hypotonia, severe speech delay, and distinct facial characteristics with additional clinical features including sleep disturbance, overweight, psychiatric disorders, and autism spectrum disorder. To date, a limited number of case reports of Kleefstra syndrome with psychiatric manifestations have been reported.

Case presentation: We reported a case of a 35-year-old male diagnosed with Kleefstra syndrome, who also had diagnoses of autism spectrum disorder and moderate to severe intellectual disability. He exhibited various psychiatric manifestations, including temporarily manic-like symptoms, excessive eating/overweight, addictive/gambling behaviors, inappropriate and unsafe internet use, sleep disturbance, rigid routines, and behaviors that challenged in the form of meltdowns. These symptoms were eventually relatively successfully managed with a combination of non-pharmacological and pharmacological treatments.

Conclusion: To our knowledge, there is only a limited number of case reports that detail patients with Kleefstra syndrome exhibiting various psychiatric manifestations. Our report adds further knowledge to the paucity of literature and highlights the effectiveness of a combination of non-pharmacological and pharmacological treatments for behavioral/psychiatric difficulties in Kleefstra syndrome.

Keywords: Kleefstra syndrome; autism spectrum disorder; case report; intellectual disability; psychiatric manifestations.

Publication types

Case Reports

Grants and funding

KY received the Azrieli Adult Neurodevelopmental Centre Postdoctoral Fellowship at CAMH within the past 3 years. PD is currently being supported by CAMH Discovery Fund and the Academic Scholar Award from the Department of Psychiatry, University of Toronto.