Qualitative Study Identifies Major Concerns of Young Adults With Fragile X and Their Parents

Qualitative Study Identifies Major Concerns of Young Adults With Fragile X and Their Parents

Young adults with fragile X syndrome (FXS) and their parents have identified several areas of major concern, including those related to physical, psychological, social, and financial issues, in a qualitative study.

The study, “Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents,” was published in the Journal of Autism and Developmental Disorders.

FXS is the most frequent single genetic cause of autism spectrum disorder. Children affected by the disease often exhibit autism-like features, including impaired social skills, hyperactivity, and repetitive behaviors, together with intellectual and developmental disabilities, such as speech.

“Up to now, little is known about the worries and the healthcare needs of young adult male and female FXS patients and their parents, and no guidelines for adults with FXS are available, even though patients remain affected in adulthood,” the investigators wrote.

This group of Dutch scientists summarized and evaluated the major concerns and healthcare needs of young adults with FXS and their parents.

The qualitative study gathered feedback from five young adults with FXS (between 18 and 30 years old) and 33 parents. Worries and healthcare needs were categorized according to the guidelines defined by the International Classification of Functioning and Disability from the World Health Organization.

Data from individual interviews and focus group sessions revealed that there were 14 major areas of concern for female patients and 13 for male patients. These included physical and psychological impairments, and social and financial issues.

Both male and female patients reported they had high levels of stress and anxiety and sometimes experienced physical issues (e.g., recurrent ear infections, epilepsy and motor impairments). In addition, all patients and parents were concerned about the impact physical exercise, sports, relationships and intimacy could have due to the physical and social restraints imposed by FXS.

Female patients were particularly worried about their lack of independence and reproductive health due to the heritability of their condition.

“I would like to have children. But having children is difficult; they could also have FXS, and then you will get in all sorts of procedures, which is emotionally difficult. I would think twice,” one female patient said.

Parents were also concerned about reproduction due to the heritability of fragile X, and also expressed doubts about their parenting skills.

“When our son turned 18 we spoke with him about children and we agreed that sterilization was for the best. Having grandchildren is very nice but it would be a disaster if he would be responsible for a child,” one parent said.

Anxiety disorders were common among males and females. However, male patients seemed to be more prone to develop aggressive and self-injurious behaviors that were a major cause of concern for their parents.

Most parents also expressed concern about their physicians’ expertise in prescribing medications to control anxiety, depression, and other behavioral issues. In addition, they were also worried about their children finding appropriate jobs, dealing with financial issues and the lack of healthcare support. All parents reported high levels of stress.

“Our results underline the burden of FXS for both male and female patients, and the need for periodic multidisciplinary care, screening for problems on all ICF domains. The need for gender specific care is emphasized by this study, as male and female patients address different worries and needs, although on similar domains,” the researchers wrote.

“As the transitional age and young adulthood is a complex phase in life, we advise yearly screening. As the physical and neuropsychiatric [symptoms] persist, and cognitive ageing in FXS has been reported at a relatively early age, this yearly screening should be continued throughout the lifetime of adults with FXS, including neuropsychological evaluation at least once every 5 years,” they added.

Joana holds a BSc in Biology and a MSc in Evolutionary and Developmental Biology from Universidade de Lisboa. She is currently finishing her PhD in Biomedicine and Clinical Research at Universidade de Lisboa. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.
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Joana holds a BSc in Biology and a MSc in Evolutionary and Developmental Biology from Universidade de Lisboa. She is currently finishing her PhD in Biomedicine and Clinical Research at Universidade de Lisboa. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.
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