Abnormal behavioral patterns, including increased aggressiveness and anger, can be symptoms of Gaucher disease (GD) type 3 and also markers of disease progression, according to researchers.
The study, “Previously unrecognized behavioral phenotype in Gaucher disease type 3,” was published in the journal Neurology Genetics.
Patients with Gaucher disease type 3 (GD3) can show a broader spectrum of symptoms, with more than 50 percent of GD3 cases presenting symptom onset during infancy. Compared to patients with Gaucher type 1 or 2, GD3 patients often present neurological symptoms, including developmental delay, an inability to look in a specific direction, speech difficulties, and seizures.
Enzyme replacement therapy (ERT) for GD3 has led to contradictory results, from having no effect on the patient, to stabilizing disease symptoms, to improving neurological function and prolonging patients’ survival.
The majority of these studies focus on the physical and neurological manifestations of Gaucher type 3, but they don’t evaluate potential behavioral aspects of the illness. Indeed, many parents of children with GD3 report abnormal behaviors such as extreme anger and aggression, persistent crying, excessive motor activity, and bizarre repetitive acts.
Researchers from the Cairo University Pediatric Hospital in collaboration with researchers from the University of Minnesota conducted a retrospective study to evaluate abnormal behaviors and correlate them with neurological characteristics of the patients.
A total of 34 Egyptian children with Gaucher type 3 were included in the study. Among these, 19 children had neurological symptoms at the beginning of the trial and the remaining 15 developed neurological symptoms afterward.
The researchers observed various behavioral symptoms in this cohort. Anger and aggression was a main concern of parents of about 69.7 percent of the patients, and was present in all the participants in both reactive and proactive forms.
“Reactive aggression is a response to perceived provocation or challenge to personal autonomy or social norms and is often accompanied by anger,” the researchers wrote. “Proactive aggression, such as deliberate harassment and bullying, without provocation, is committed to dominate others and/or for material gain, e.g., attention, control of toys etc.”
In addition to impatience and hyperactivity, crying, social withdrawal, and repetitive acts were other behavioral symptoms reported by the parents and detected, but with much less incidence, in the Gaucher disease type 3 children.
Researchers also found that higher anger and aggression scores were associated with lower IQ scores, but no association was found with either the electroencephalogram (EEG) and seizure status or neurological signs. In comparison, they found that crying and social withdrawal and repetitive acts were positively associated with EEG and seizure status.
“These components defined by quantitative behavioral scoring methods might serve as markers of neurologic disease progression and severity,” the researchers wrote.
“EEG recording together with structural and functional brain imaging methods can provide insight into the localization of the underlying pathophysiologic [disease causing] processes in Gaucher type 3, which would guide future treatments targeting the CNS disease,” they added.