Fragile X, in Rare Case, Linked to Catatonia and Psychosis in Teen

Fragile X syndrome, or its associated psychiatric disorders, may lead to catatonia — a condition characterized by abnormal movements and behaviors — and to psychosis, according to a case report.

In this rare case, both conditions in a teenage boy were successfully managed with a combination of psychotropic medications.

The study, “Psychosis and Catatonia in Fragile X Syndrome,” was published in the journal Cureus.

Fragile X is the most common single-gene cause of inherited intellectual disability and autism spectrum disorders (ASD). It is also frequently associated with psychiatric disorders such as attention deficit hyperactive disorder (ADHD), obsessive-compulsive disorder, depression, and anxiety. Psychosis is also present in 10% of all cases.

Catatonia, a psychomotor disorder that affects a person’s ability to control movement, can be seen in fragile X patients in the presence of ASD, ADHD, or any mood disorder — conditions thought to cause the disorder.

Common symptoms of catatonia include immobility, withdrawal, repetitive movements, abnormal behaviors, absence of speech, resistance to simple commands, persistent starting, and opposition or lack of response to external stimuli.

Treating catatonia usually includes the correction of the underlying disorder, but “benzodiazepines and electroconvulsive therapy (ECT) can also be used as an effective treatment,” the researchers wrote. Benzodiazepines are used for the treatment of anxiety, sleep problems, depression, and other conditions.

Notably, the underlying mechanisms of catatonia appear to be similar to those of fragile X, including specific dysregulations of multiple neurotransmitters, chemical messengers used in nerve cell communication.

However, “there is not enough data to support exclusive relationship between the two,” the team added.

Researchers at Texas Tech University Health Sciences Center El Paso and the University of Maryland described the case of an 18-year-old boy with fragile X and other simultaneous psychiatric conditions, who suddenly developed catatonia and psychosis.

With two older brothers with fragile X syndrome and ADHD, the boy was diagnosed with fragile X at birth. His mother was a carrier of a fragile X-causative mutation, and had ADHD, anxiety, and depression, while his father had a history of bipolar disorder and post-traumatic stress disorder.

In the month prior to a psychiatric evaluation, the teenager’s behavior changed profoundly. His parents reported that their “sweet, friendly boy” had become “a very different kid,” and very difficult to manage at home.

He began to show agitation, irritability, and aggressiveness and anger toward family members — leading to him being isolated in his room — and to insomnia, crying spells, and mood swings. Hallucinations were also reported, with the boy seeing and speaking to people who were not there. Basic learned skills, including holding a pen, writing, and drawing, were lost.

The boy also had catatonic symptoms, such as standing in one position with limited movements and blinking, staring at the ceiling for prolonged periods of time, an absence of speech, repetitive movements, and involuntary, jerky movements.

Before being referred to the psychiatric clinic, he was hospitalized for 12 days — and tests showed vital signs, lab results, and imaging data within normal range. Neurological exams, however, noted muscle stiffness and rigidity throughout the body, and severe jerky movements in all extremities.

On his first visit to the psychiatric clinic, the patient had been taking quetiapine (anti-psychotic medication) and lorazepam (a benzodiazepine) daily for one month without any improvement. On examination, he showed jerky movements, muscle stiffness, and involuntary muscle contractions, and was irritable, anxious, and uncooperative.

Whether his catatonia was secondary to ADHD, fragile X, ASD, or mood disorder was unclear.

After some adjustments in his treatment plan, a combination of quetiapine, clonazepam (another benzodiazepine), lisdexamfetamine (an ADHD medication), and divalproex sodium (used for seizures and mood disorders) led to marked reductions in psychosis, catatonia, abnormal behavior, aggression, irritation, and insomnia at his four-week follow-up.

His parents reported that the boy was back to his normal self, and he was no longer isolated from his family. Further examination showed that he was following commands and had good eye contact with appropriate affect, but he still had mild jerky movements in the hands and/or arms.

“The patient continues to be monitored at the psychiatric clinic regularly and has not had a recurrence of symptoms,” the researchers wrote.

They also noted that a previous case report of a 25-year-old man with a fragile X-related mutation who developed psychosis and catatonia resistant to multiple medications. While his catatonia improved with ECT, he later showed cognitive decline.

“The current report highlights the association of multiple psychiatric [conditions] in a patient with [fragile X] and the response to a combination of psychotropic medications,” the researchers concluded.