<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec id="j_sjcapp-2022-0017_s_006"><h3>Background</h3>
<p>Wolfram Syndrome is a rare genetic disorder usually resulting from pathogenic variation in the <italic>WFS1</italic> gene, which leads to an exaggerated endoplasmic reticulum (ER) stress response. The disorder is typically characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy, hearing loss, and neurodegenerative features. Existing literature suggests it may also have psychiatric manifestations.</p></sec>
<sec id="j_sjcapp-2022-0017_s_007"><h3>Objective</h3>
<p>To examine lifetime psychiatric diagnoses and medication history in Wolfram Syndrome.</p></sec>
<sec id="j_sjcapp-2022-0017_s_008"><h3>Method</h3>
<p>Child, adolescent, and young adult Wolfram Syndrome participants (n=39) were assessed by a child &amp; adolescent psychiatrist to determine best estimate DSM-5 lifetime psychiatric diagnoses as well as psychoactive medication history. In addition, the Child &amp; Adolescent Symptom Inventory-5 (CASI-5) Parent Checklist was used to determine likely psychiatric diagnoses based on symptom counts in Wolfram Syndrome patients (n=33), type 1 diabetes (n=15), and healthy comparison (n=18) groups.</p></sec>
<sec id="j_sjcapp-2022-0017_s_009"><h3>Results</h3>
<p>Study participants with Wolfram Syndrome had high lifetime rates of anxiety disorders (77%). Also, 31% had an obsessive-compulsive spectrum disorder, 33% had a mood disorder, 31% had a neurodevelopmental or disruptive behavior disorder, and 31% had a sleep-wake disorder. More than half of Wolfram Syndrome participants had taken at least one psychoactive medication, and one third had taken at least one selective serotonin reuptake inhibitor (SSRI). Some individuals reported poor response to sertraline but better response after switching to another SSRI (fluoxetine or citalopram). In general, people with Wolfram Syndrome often reported benefit from psychotherapy and/or commonly used psychoactive medications appropriate for their psychiatric diagnoses.</p></sec>
<sec id="j_sjcapp-2022-0017_s_010"><h3>Conclusions</h3>
<p>Wolfram Syndrome may be associated with elevated risk for anxiety and obsessive-compulsive spectrum disorders, which seem generally responsive to usual treatments for these disorders.</p></sec></abstract>

Background
Wolfram Syndrome is a rare genetic disorder usually resulting from pathogenic variation in the WFS1 gene, which leads to an exaggerated endoplasmic reticulum (ER) stress response. The disorder is typically characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy, hearing loss, and neurodegenerative features. Existing literature suggests it may also have psychiatric manifestations.
Objective
To examine lifetime psychiatric diagnoses and medication history in Wolfram Syndrome.
Method
Child, adolescent, and young adult Wolfram Syndrome participants (n=39) were assessed by a child & adolescent psychiatrist to determine best estimate DSM-5 lifetime psychiatric diagnoses as well as psychoactive medication history. In addition, the Child & Adolescent Symptom Inventory-5 (CASI-5) Parent Checklist was used to determine likely psychiatric diagnoses based on symptom counts in Wolfram Syndrome patients (n=33), type 1 diabetes (n=15), and healthy comparison (n=18) groups.
Results
Study participants with Wolfram Syndrome had high lifetime rates of anxiety disorders (77%). Also, 31% had an obsessive-compulsive spectrum disorder, 33% had a mood disorder, 31% had a neurodevelopmental or disruptive behavior disorder, and 31% had a sleep-wake disorder. More than half of Wolfram Syndrome participants had taken at least one psychoactive medication, and one third had taken at least one selective serotonin reuptake inhibitor (SSRI). Some individuals reported poor response to sertraline but better response after switching to another SSRI (fluoxetine or citalopram). In general, people with Wolfram Syndrome often reported benefit from psychotherapy and/or commonly used psychoactive medications appropriate for their psychiatric diagnoses.
Conclusions
Wolfram Syndrome may be associated with elevated risk for anxiety and obsessive-compulsive spectrum disorders, which seem generally responsive to usual treatments for these disorders.

Psychiatric Diagnoses and Medications in Wolfram Syndrome

Scandinavian Journal of Child and Adolescent Psychiatry and Psychology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"Psychiatric Diagnoses and Medications in Wolfram Syndrome"}

Background
Wolfram Syndrome is a rare genetic disorder usually resulting from pathogenic variation in the WFS1 gene, which leads to an exaggerated endoplasmic...

Psychiatric Diagnoses and Medications in Wolfram Syndrome

Article Category: Research Article

Publicado en línea: 31 dic 2022

Páginas: 163 - 174

DOI: https://doi.org/10.2478/sjcapp-2022-0017

Palabras clave
Wolfram Syndrome, Psychiatry, Anxiety, Obsessive Compulsive Disorder, medication, ER stress

© 2022 Angela M. Reiersen, Jacob S. Noel, Tasha Doty, Richa A. Sinkre, Anagha Narayanan, Tamara Hershey, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Psychiatric Diagnoses and Medications in Wolfram Syndrome

Article Category: Research Article

Publicado en línea: 31 dic 2022

Páginas: 163 - 174

DOI: https://doi.org/10.2478/sjcapp-2022-0017

Palabras claveWolfram Syndrome, Psychiatry, Anxiety, Obsessive Compulsive Disorder, medication, ER stress

© 2022 Angela M. Reiersen, Jacob S. Noel, Tasha Doty, Richa A. Sinkre, Anagha Narayanan, Tamara Hershey, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Palabras clave
Wolfram Syndrome, Psychiatry, Anxiety, Obsessive Compulsive Disorder, medication, ER stress