Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 22, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.ymgmr.2019.100549
Keywords
Mucopolysaccharidosis II; Hunter syndrome; Neurobehavioral symptoms; Behavioral decline; Neuronopathic phenotype
Categories
Funding
- Shire Human Genetic Therapies Inc., Lexington, MA, a member of the Takeda group of companies [IIR-USA-001644]
- NIH [U54NS065768]
- National Center for Advancing Translational Sciences
- National Institute of Neurological Disorders and Stroke
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Institutes of Health's National Center for Advancing Translational Sciences [UL1TR002494]
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In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress stemming from this complex and far-reaching array of symptoms, neither caregiver burden nor the neurobehavioral symptoms have been measured comprehensively. We delineated these neurobehavioral characteristics and their impact on the caregiver using multiple approaches. Methods: As part of the initial phase of developing a Hunter-specific behavioral assessment tool, we used multiple methods to obtain data on patient behaviors and caregiver burden, with the intention of drafting item sets for the tool. We utilized 1) caregiver descriptions from focus groups and individual interviews, 2) observations from video-recorded play of affected children, 3) descriptions from historic chart review, 4) consultation with patient advocacy groups and international experts, 5) reports from a caregiver advisory board, and 6) literature review. Results: Neurobehavioral symptoms were diverse and categorized as focus/attention, impulsivity/heightened activity, sensation seeking, emotional/behavioral function, social interaction, and sleep. A significant reported challenge was susceptibility to misinterpretation of some behaviors as defiant or aggressive, particularly if physical. Caregiver burden involved social isolation, exhaustion, stress, and financial and vocational strain. These new descriptions will aid in developing quantitative measures of change in neurobehavioral symptoms and family burden. These descriptions will be the foundation of a neurobehavioral rating scale, which is very much needed to aid in patient management and assess interventions for individuals with neuronopathic Hunter syndrome.
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