Psychosis and catatonia in fragile X: Case report and literature review

Winarni, Tri Indah; Schneider, Andrea; Ghaziuddin, Neera; Seritan, Andreea L.; Hagerman, Randi J

doi:10.5582/irdr.2015.01028

Cited by 12 publications

(12 citation statements)

References 75 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hessl et al reported a prevalence of 26% of psychoticism/ psychosis in males with the PM. They found that elevated levels of FMR1 mRNA in PM carriers was significantly associated with increases in psychological symptoms, mainly obsessive-compulsive symptoms and psychoticism/psychosis in PM males with and without FXTAS (41,42). Our patient additionally presented with disinhibition, irritability, and behavioral changes which have been reported in PM carriers, especially in those with FXTAS (10,43).…”

Section: Discussionsupporting

confidence: 66%

Fragile X associated neuropsychiatric disorders in a male without FXTAS

Cabal-Herrera

Saldarriaga

Salcedo-Arellano

et al. 2020

IRDR

Self Cite

View full text Add to dashboard Cite

fragile X mental retardation 1 gene, fragile X-associated neuropsychiatric disorders, premutation, FXAND, psychosis Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. In most cases, it is due to an expansion of the CGG triplet to more than 200 repeats within the promoter region of the FMR1 gene. In the premutation (PM) the trinucleotide is expanded to 55-200 repeats. PM carriers can present with disorders associated with the PM including fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated ovarian insufficiency (FXPOI). Recently fragile X-associated neuropsychiatric disorders (FXAND) was proposed as an umbrella term to include the neuropsychiatric disorders that are more prevalent in PM carriers compared to the general population such as anxiety, depression, chronic fatigue, alcohol abuse, and psychosis, among others. The patient in our study was evaluated by a team of clinicians from the University del Valle in Cali who traveled to Ricaurte, a Colombian town known for being a genetic geographic cluster of FXS. A detailed medical history was collected and complete physical, neurological and psychiatric evaluations were performed in addition to molecular and neuroradiological studies. We report the case of a 78-year-old man, PM carrier, without FXTAS whose main clinical presentation consists of behavioral changes and psychosis. Brain imaging revealed white matter lesions in the periventricular region and mild cerebral atrophy. Although anxiety and depression are the most common neuropsychiatric manifestations in PM carriers, it is important to perform a complete psychiatric evaluation since some patients may present with behavioral changes and psychosis.

show abstract

Section: Discussionsupporting

confidence: 66%

Fragile X associated neuropsychiatric disorders in a male without FXTAS

Cabal-Herrera

Saldarriaga

Salcedo-Arellano

et al. 2020

IRDR

Self Cite

View full text Add to dashboard Cite

show abstract

“…The underlying mechanism of catatonia has been identified due to changes in three hormonal activities. These include dopamine hypoactivity, GABA hypoactivity, and glutamate hyperactivity [ 11 , 15 ]. Moreover, the comorbidity between FXS and the development of ADHD in early childhood has been shown to be due to dopamine dysfunction.…”

Section: Discussionmentioning

confidence: 99%

“…The literature reported a case study of a 25-year-old male with a history of FXS, who developed psychosis and catatonia which were refractory to multiple medications. In that case study, the patient’s catatonia improved with ECT; however he later developed cognitive decline [ 15 ]. The current report highlights the association of multiple psychiatric comorbidities in a patient with FXS and the response to a combination of psychotropic medications.…”

Section: Discussionmentioning

confidence: 99%

“…The underlying neurochemical mechanism of catatonia is similar to the mechanism seen in FXS including GABA hypoactivity and glutamate hyperactivity. However, dopamine dysfunction, a common mechanism of catatonia, is seen in a majority of FXS leading to ADHD during childhood and Parkinsonian symptoms in the elderly [ 11 , 15 ]. The treatment plan usually includes the correction of the underlying disorder; however, benzodiazepines and electroconvulsive therapy (ECT) can also be used as an effective treatment [ 8 , 18 ].…”

Section: Introductionmentioning

confidence: 99%

“…There is a 2.5% risk of developing malignant catatonia and development of neuroleptic malignant syndrome when anti-psychotics are used for the treatment of catatonia [ 15 , 18 ]. Malignant catatonia has a considerable risk of mortality due to cardiovascular instability, nutritional deficiency, functional impairment, and multi-organ failure related complications.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Psychosis and Catatonia in Fragile X Syndrome

Keshtkarjahromi

Palvadi

Shah

et al. 2021

Cureus

View full text Add to dashboard Cite

Fragile X syndrome is an inherited disorder with an X-linked dominant inheritance pattern that is the most commonly inherited cause of intellectual developmental disorder and has a strong association with autism spectrum disorder. This report describes the case of an 18-year-old male with fragile X syndrome and multiple psychiatric comorbidities who presented with new onset psychosis and catatonia.

show abstract

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series

Butcher

Boot

Lang

et al. 2018

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11.2 deletion. As in the general population, catatonic features in 22q11.2DS occurred in individuals with schizophrenia, other psychotic and non-psychotic psychiatric disorders, and neurological disorders like Parkinson's disease. We place the results in the context of an updated review of catatonia in other genetic conditions. The complex neuropsychiatric expression and risk profile of 22q11.2DS highlights the need to consider co-morbid factors and provide care tailored to the individual patient. The results reinforce the need for periodic monitoring for the emergence of psychiatric and neurological manifestations including catatonic features. Pending further research, enhanced recognition and informed anticipatory care promise to facilitate the early diagnosis that allows for timely implementation and optimization of effective treatments.

show abstract

Psychosis and catatonia in fragile X: Case report and literature review

Cited by 12 publications

References 75 publications

Fragile X associated neuropsychiatric disorders in a male without FXTAS

Fragile X associated neuropsychiatric disorders in a male without FXTAS

Psychosis and Catatonia in Fragile X Syndrome

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series

Contact Info

Product

Resources

About