Anxiety, learning difficulties, and behavior problems are the main areas of concern in patients with fragile X syndrome (FXS), according to a survey that included patients, family members or caregivers, and healthcare professionals.
Survey results, which also showed that anxiety is viewed as the top treatment priority, were reported in the study, “Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities,” published in the journal Brain Sciences.
Patients with FXS, the leading genetic cause of autism, may exhibit a variety of behavioral and developmental symptoms, such as impaired adaptive function (social and emotional maturity), anxiety, attention deficit/hyperactivity disorder (ADHD), and social communication issues. Given the diversity of possible manifestations, clinical research should focus on the symptoms and concerns that most affect patients and their families.
A prior qualitative study reported that controlling behavior and caring for oneself were the highest priorities for treatment according to caregivers of males ages 5 and older with FXS.
To help further identify treatment targets, researchers designed a new survey that included females with FXS, professionals, and family members or caretakers of children younger than 5.
The online survey — created by the National Fragile X Foundation and clinical investigators from the industry and academia — had a total of 467 respondents, 439 of whom were family members or caretakers of an FXS patient, 20 were healthcare professionals working with a person with FXS, and eight were FXS patients (all female, ages 13 or older).
The survey was divided into age groups based on standard developmental stages: early childhood, middle childhood, adolescent/young adult, and adult. Most FXS patients on whom the caregivers and healthcare professionals were reporting were males of all ages, making up 397, or 84.8%, of the patients.
Specifically, the survey items focused on major concerns and symptom areas, daily living skills, family impact, and priorities for treatment. Besides structured questions, the study also included a free response section to give respondents the opportunity to express concerns on other treatment targets.
Family members/caregivers identified behavior as the item with the greatest impact on male patients, while intelligence was the most commonly reported area in females.
Physical abilities were the greatest concern in nearly 15% of FXS males ages 5 and younger and in 10% of FXS females older than 22. In contrast, less than 10% of respondents in all other groups identified this area as the main problem.
Similar to the overall data for males, behavior was the most relevant area of concern in FXS males ages 12 and younger. However, in older patients, intelligence was the main concern for a larger proportion of males. By the age of 22 and older, behavior and intelligence had nearly the same impact, “suggesting that intellectual deficits are perceived as increasingly limiting as FXS males (and females) become older,” the researchers wrote.
Regarding symptoms, anxiety (such as that related to new or upcoming events and/or social anxiety), learning or intellectual disability, speech/language delays, and seizures were rated as the most relevant. Anxiety received the highest rating in males ages 6 and older. For males younger than 6, expressive language delays were reported as the most worrisome symptom. Anxiety and learning were the highest rated in females across all ages.
For affected daily living abilities, the top five for family members/caregivers were learning academic skills, reading or math; speaking and communicating; controlling behavioral outbursts; taking care of self; and independence. Being able to speak was more of a concern throughout childhood and adolescence, but in adulthood, being able to live independently was rated higher. Compared with caregivers of males, those of females rated social issues higher.
Data on family impact revealed that handling behaviors such as tantrums, aggression, spitting, and cursing; worrying about the future; always needing to think one step ahead; not being able to tell what the patient wants or needs; and supervision were the five most challenging aspects.
Anxiety, learning, and behavior problems (such as outbursts, tantrums, or aggression) were identified as the top three aspects of fragile X syndrome that participants would like to see a therapy address. Other treatment priorities included ADHD; communication, sensory (including hyperarousal and hand biting), social skills or behaviors, perseveration (such as repeating the same thing), sleep, mood, motor function, autistic behavior, eating issues, and seizures.
Both healthcare professionals and patients with FXS rated anxiety most often as the No. 1 priority for treatment.
“Three main concerns emerged as consistently problematic in the lives of people with FXS: Learning/cognitive problems, anxiety, and behavior problems,” the researchers wrote.
They did, however, caution that the group of FXS patients was small and likely not representative of all individuals with FXS.
The observed variability in response patterns across ages and sex “will dictate a focus on different clinical features and different clinical outcome assessments for therapeutic trials, depending on the FXS age/gender subgroup,” they added.