Younger Children With GD1 More Susceptible to Poorer Health-related Quality of Life, Study Suggests

Younger Children With GD1 More Susceptible to Poorer Health-related Quality of Life, Study Suggests
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Children with type 1 Gaucher disease are more likely to experience social withdrawal, anxiety, and depression with poorer health-related quality of life than their peers without the disorder, researchers suggest.

However, no such problems were observed in young adults who have the disorder.

The study, “Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1,” was published in the American Journal of Medical Genetics.

Previous research has shown that adults with type 1 Gaucher disease (GD1) have lower quality of life, reflected in decreased physical and social functioning, as well as more severe pain. Even though enzyme replacement therapy (ERT) can ease symptoms and improve health-related quality of life (HRQoL), patients still experience pain during daily activities, mood changes, anxiety, and a negative outlook on life, compared with the general population.

In the new study, researchers at the University of California and their collaborators decided to investigate the emotional status and HRQoL among young patients with GD1.

A total of 17 children (ages 5 to 17) and 15 young adults (18 to 30 years) with GD1 completed age-appropriate assessments of HQRoL, emotional health, and behavioral symptoms such as hyperactivity, lack of attention, and having problems at school. Twenty-seven parents (two men and 25 women) of pediatric patients also completed similar questionnaires.

Most patients (75%) were being treated with ERT, while the remaining 25% (all adults) were taking Cerdelga (eliglustat), a substrate reduction therapy.

Results in children were compared to prior data of healthy individuals and children with Fabry disease. Both GD and Fabry disease are lysosomal storage disorders, as they are inherited metabolic diseases characterized by an abnormal build-up of toxic materials in cells.

The data on young adults were compared to a healthy sample and to patients with self-reported chronic disorders.

Compared with healthy controls, children with GD1 had significantly lower HRQoL across physical, psychosocial, emotional, social, and school functioning domains. Parents also reported significantly worse functioning across most HRQoL domains.

However, no differences were seen in the HRQoL of children with GD1 compared those with Fabry disease.

Young adults with GD1 reported mildly lower physical functioning than their healthy counterparts, though without significant differences in any HRQoL aspect. As seen in children, no differences were observed when they were compared to their peers with other chronic diseases.

“Results suggest that young adults with GD1 possess good psychological coping skills such that they adapt well to GD1-related constraints in adulthood,” the investigators wrote.

Children with GD1 reported more problems in school but better emotional functioning than controls. Younger children had a tendency to internalize their problems, resulting in social withdrawal, anxiety, and depression, their parents said.

In contrast, adolescents and their parents did not report significant problems with psychological functioning. “In fact, adolescents reported fewer emotional symptoms and fewer school problems relative to normative standards,” the team wrote.

“Overall, results consistently identified younger patients with GD1 as more affected than older patients in HRQoL and psychological domains,” the scientists said. “Implementation of psychosocial interventions may be particularly beneficial during early childhood.”

With over three years of experience in the medical communications business, Catarina holds a BSc. in Biomedical Sciences and a MSc. in Neurosciences. Apart from writing, she has been involved in patient-oriented translational and clinical research.
Total Posts: 24
José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
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With over three years of experience in the medical communications business, Catarina holds a BSc. in Biomedical Sciences and a MSc. in Neurosciences. Apart from writing, she has been involved in patient-oriented translational and clinical research.
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