Topic 14.4. Management of psychosis in Friedreich ataxia
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
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The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.
These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.
The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.
Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.
These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.
Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.
14.4 Management of psychosis in Friedreich ataxia
Caroline Spencer, Alexandra Durr, George Wilmot, Susan Perlman and Louise Corben
The clinical experience of the expert authors and case reports (16-19) supports the existence of psychosis in individuals with FRDA, albeit rare, particularly in end-stage disease. Medications such as quetiapine (19), aripiprazole (16) and risperidone (18) are all reported as effective in treating psychosis in FRDA. It should be noted, however, that as psychosis is more likely to be in end-stage rather than earlier stage FRDA, it may be hard to judge the efficacy of medication, particularly if severe dysarthria is present. Therefore, involving family and carers in treatment monitoring is important.
For those individuals in the earlier stage of FRDA who experience an onset of psychosis it is important to exclude other sources of psychosis such as use of recreational or prescription drugs, hypoxia due to sleep disordered breathing or an onset of schizophrenia. Ganos and colleagues (17) reported a case of a 29-year-old male with FRDA who developed irrationality, paranoid delusions, auditory hallucinations and somatic sensations four days after receiving intravenous amiodarone to manage an episode of paroxysmal tachyarrhythmia. It is imperative that primary health care providers are alert to and consider psychosis in individuals, particularly in those with advanced FRDA, but also those earlier in the disease trajectory. In addition, interdisciplinary management, including treating neurologists, psychiatrists, and tertiary health care givers, will ensure best possible treatment for these individuals (17).
Anti-psychotic medication
QUESTION: Should antipsychotic medication versus none be used for psychosis in individuals with Friedreich ataxia?
LEVEL OF EVIDENCE: ⨁◯◯◯
RECOMMENDATION: We conditionally recommend the use of antipsychotic medication in individuals with Friedreich ataxia with confirmed episodes of psychosis.
JUSTIFICATION: Antipsychotics should work as well in individuals with Friedreich ataxia as in those without Friedreich ataxia. It is important for the primary healthcare provider to be alert to and consider psychosis in individuals with advanced Friedreich ataxia.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia and a confirmed diagnosis of psychosis. Individuals who have severe dysarthria require careful screening to ensure accurate diagnosis.
Evidence to Recommendation Table PDFCounseling for psychosis
QUESTION: Should counseling or therapy versus none or antipsychotic prescription be used for psychosis in individuals with Friedreich ataxia?
LEVEL OF EVIDENCE: ⨁◯◯◯
RECOMMENDATION: We conditionally recommend against the use of counseling or therapy over antipsychotic medication in cases of acute psychosis in Friedreich ataxia.
JUSTIFICATION: The expert authors consider counseling in cases of acute psychosis to be not as efficacious as antipsychotic medication. Counseling for the family may be useful and counseling post-psychotic episode may be of benefit.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia and a confirmed diagnosis of psychosis. Individuals who have severe dysarthria require careful screening to ensure an accurate diagnosis of psychosis.
Evidence to Recommendation Table PDFLay summary of clinical recommendations for psychosis in Friedreich ataxia
Individuals with Friedreich ataxia often report mental health concerns. These issues can vary in nature throughout the person’s life and can affect physical, emotional, and social wellbeing. Although rare, some individuals of advanced age and severity of Friedreich ataxia can experience symptoms of psychosis including sensory hallucinations and paranoia.
Why these recommendations?
Medication
For individuals with Friedreich ataxia who experience episodes of psychosis, we recommend the use of antipsychotic medication, according to the specific diagnosis. Management of psychosis with antipsychotic medication should be no different for people with Friedreich ataxia than for other people.
Counselling
Although counselling can be beneficial for some mental health issues, in the case of psychosis, we recommend using medication rather than counselling because medication is likely to be more effective.
What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?
An individual experiencing an episode of psychosis will need to be assessed by a doctor or psychiatrist. Once a diagnosis of psychosis is made, the doctor will assess which medication may be appropriate to treat your particular symptoms.
Who are these recommendations specifically for?
These recommendations are relevant to all individuals with Friedreich ataxia experiencing an episode of psychosis. Consideration should be given to treatments that are best suited to the age of the individual and the severity of symptoms.
Louise Corben, PhD
Principal Research Fellow, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
Email: louise.corben@mcri.edu.au
Alexandra Durr, MD, PhD
Professor of Neurogenetics, Sorbonne Université, Paris, France
Email: alexandra.durr@icm-institute.org
Susan Perlman, MD
Clinical Professor of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
Email: sperlman@ucla.edu
Caroline Spencer, PhD
Postdoctoral Fellow, Boston University, Boston, Massachusetts, USA
Email: cspencer@bu.edu
George Wilmot, MD, PhD
Associate Professor, Department of Neurology, Emory University, Atlanta, Georgia, USA
Email: gwilmot@emory.edu
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These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.