Recognizing and Treating Catatonia in Kleefstra Syndrome

Summary

Kleefstra syndrome is a rare genetic condition with numerous effects on the body's functioning. Psychiatric comorbidity in Kleefstra syndrome is common, though reports have been limited. This manuscript highlights the importance of timely catatonia identification and treatment in an adolescent with Kleefstra syndrome.

Abstract

Kleefstra syndrome is a rare genetic disorder (less than 1 in 1,000,000) associated with a mutation of the euchromatic histone lysine methyltransferase 1 gene of the ninth chromosome. This gene controls the production of the enzyme, histone methyltransferase 1, which has widespread impacts on the body's ability to function. There are numerous physiologic impacts of the genetic abnormalities associated with Kleefstra syndrome, including psychiatric and behavioral comorbidities. One of these comorbidities is Catatonia. Catatonia is a neuropsychiatric syndrome that is associated with psychomotor disturbances, with individuals either appearing to be hypokinetic or, less commonly, hyperkinetic. It is defined by a compilation of symptoms that range from changes in communication, movements, and behaviors. Though case reports in the literature are nonexistent, Catatonia is known to be associated with Kleefstra syndrome. Furthermore, the successful treatment of Catatonia associated with Kleefstra has not yet been reported. This case describes a 17-year-old male with a history of Kleefstra syndrome and Catatonia who was successfully treated with scheduled Lorazepam. Discussion of such a case in the literature is important to help other providers appropriately diagnose and treat this often overlooked psychiatric condition in patients with complex genetic syndromes.

Introduction

Kleefstra syndrome (9q34.3 Microdeletion Syndrome) is a rare genetic disorder caused by haploinsufficiency of the euchromatic histone lysine methyltransferase 1 (EHMT1) gene¹. The syndrome is characterized by a variety of dysmorphic features, developmental differences such as intellectual disability (ID) and autism spectrum disorder (ASD), and other comorbid conditions².

Comorbidities of Kleefstra syndrome include hearing loss, congenital heart defects, gastroesophageal reflux disease, renal anomalies, and seizures, among others². Other notable associations inc....

Protocol

This study was approved by the University of Colorado institutional board review for case presentation. Consent for case publication was obtained from the patient's guardian.

1. Establishing the baseline

1. Screening
   1. Changes in the patient's behaviors were discussed with the patient and family to screen for Catatonia. Specific screening questions for catatonic behaviors included immobility, mutism, eye contact, posturing, grimacing, mannerisms, rigidity, negativism, withdrawal, and related features.
   2. The importance of behavioral alterations differing distinctly from the patient's established baseli....

Results

The BFCRS was used to assess the degree of response to treatment. Increases in the score indicated an increase in either the number of catatonic symptoms or their severity. Conversely, decreases in the score indicated a decrease in either the number of catatonic symptoms or their severity. The decrease in this patient's BFCRS score (Figure 1) demonstrates overall successful treatment of his Catatonia with benzodiazepines. With treatment, the patient had a tot.......

Discussion

This article highlights improved catatonia symptoms following treatment with Lorazepam in an adolescent with Kleefstra syndrome and associated Catatonia. Response to treatment was monitored using the Bush-Francis Catatonia Rating Scale (BFCRS), a widely used, validated, and reliable assessment for Catatonia. It is important to note that, of the available scales for assessing Catatonia, only one is directed at pediatric populations, the Pediatric Catatonia Rating Scale, and none take into consideration the overlap of symp.......

Materials

List of materials used in this article

Name	Company	Catalog Number	Comments
Bush-Francis Catatonia Rating Scale	Dr. George Bush and Dr. Andrew Francis	N/A	Scale used to assess presences and severity of catatonia symptoms
Lorazepam	N/A	N/A	Medication