A conceptual model describing how Angelman syndrome (AS) tends to manifest and affect a person with Angelman and those around them was described in a recent study.
The model and its often age-specific points could be useful in guiding care for Angelman, as well as in designing trials and testing new ways of treating the disease, its researchers said.
The study, “Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model,” was published in Child Psychiatry & Human Development.
Every individual with Angelman is unique — the way it manifests in one person is never exactly the same as in how another. Nonetheless, there are commonalities in how Angelman tends to present, and the impact it tends to have on people. Understanding how Angelman affects people — both those with the disease and their loved ones — is important for guiding optimal care and treatment development.
Researchers in the U.S. and Europe set out to create a model of Angelman syndrome that describes the disease’s common features, while still accounting for person-to-person variation.
“Our research aim was to build a conceptual model that outlines the features of Angelman and captures its complexity and heterogeneity [variation], from the perspective of the healthcare provider and that of the individuals’ own families,” the researchers wrote.
To do this, they combined data gleaned from a review of the published scientific literature with opinions expressed in interviews.
Specifically, the researchers interviewed three clinicians with expertise in treating Angelman, and 30 caregivers of patients. Two of the clinicians and 25 of the caregivers were from the U.S.; the rest were from the Netherlands. The caregivers were predominantly female, well educated, and white.
By synthesizing data gleaned from these different sources, the researchers created a model with seven key disease-defining concepts in Angelman that are also important targets for treatment: seizures, sleep problems, communication difficulties, limited motor function, disruptive behaviors, impaired cognition, and limited self-care abilities.
“These concepts constitute key clinical features of AS, with impact on both individuals and their caregivers. Clinicians should therefore prioritize symptoms in those areas for treatment,” the investigators wrote.
Focusing on these aspects is also important for the design of clinical trials, so that they test whether an investigational treatment can improve patients’ lives.
“Eliminating or relieving these symptoms would be expected to provide significant benefit for individuals and their families,” the researchers wrote.
The disease aspects considered most problematic by caregivers varied with age: seizures, mobility issues, and sleep problems were generally considered more problematic for young children. Difficulties in communication were generally thought more challenging for older patients.
The researchers noted several potential explanations for these age distinctions, ranging from differences in caregiver expectations to the different obstacles faced by people with Angelman at different points in development.
“Therefore, it is important that clinicians assess each family’s challenges in the context of the individual’s age, and recognize that problems may persist over a lifetime, but their relative importance changes with the age of the individual,” the researchers wrote, noting that age-specific considerations should also be applied to Angelman research.
Caregiver and clinician opinions were generally similar, but with some differences. Most notably, caregivers were more likely than clinicians to rank weak communication and self-care skills as major problems.
The researchers also noted that some health issues not specific to Angelman were nonetheless commonly described as troublesome by caregivers. These included poor bladder control, constipation, feeding difficulties, and sensitivity to heat.
“Although these symptoms are not specific to AS, they represent significant challenges for caregivers, and should be recognized by clinicians as they strive to deliver holistic, comprehensive, coordinated and high-quality medical care to patients and their families,” the researchers wrote.
The investigators noted that, based on the demographics of those interviewed, this study’s findings may not be reflective of the global Angelman community.
“Future studies should seek to validate these findings in more diverse samples of experts and families,” they wrote.
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