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Abstract Details

Neuropsychiatric burden of Adult Polyglucosan Body Disorder: A Patient Survey
Child Neurology and Developmental Neurology
P5 - Poster Session 5 (8:00 AM-9:00 AM)
5-014
To assess the neuropsychiatric burden in adult polyglucosan body disease and its effects on quality of life.
Adult polyglucosan body disease(APBD) is an autosomal recessive disorder due to reduced activity of glycogen branching enzyme ( GBE) leading to pathologic accumulation of polyglucosan bodies in the central and peripheral nervous system. Neurologic manifestations of APBD include adult onset progressive neurogenic bladder, spasticity and weakness leading to gait difficulties, sensory loss predominantly in the lower extremities and cognitive dysfunction. 
An anonymous survey of neurologic symptoms was administered to 36 patients. Baseline demographic data was obtained and further stratified by age, sex, racial background, current employment status and type of mutation in APBD. Specific neurologic symptoms assessed included bladder and bowel control, paresthesias, pain, temperature intolerance, weakness, speech and swallowing difficulties, vision impairment, exercise intolerance, gait difficulties, cognitive dysfunction, anxiety and depression. Special attention was paid to activities of daily living and dietary habits. 
Most patients belonged to the Ashkenazi Jewish ancestry (77.8%). Patients first noted symptoms between 50 to 59 years (42.9 %) and most patients were not diagnosed within the first year of onset of symptoms(94.3%). Bladder incontinence ( 20.57%) and feet numbness (20.57%) were the first noted symptoms. 48.6% of patients noted gait difficulties. Depression was noted in 17.1% and cognitive dysfunction in 11.4% of patients. 38.9% of patients reported their overall disease severity in the moderate intensity range at time of the survey. Majority of the patients used some form of assistive device to ambulate. 42.9% of patients reported their quality of life to be fair.
This survey provides an insight into the neuropsychiatric burden in APBD and its effects on the activities of daily living and overall quality of life. This in turn will help physicians identify the first manifestations of APBD for diagnosis and subsequently assist in management.
Authors/Disclosures
Dinesh Lulla, MD (Boys Town National Research Hospital)
PRESENTER 		Dr. Lulla has nothing to disclose.
Leslie J. Higuita, MD Dr. Higuita has nothing to disclose.
No disclosure on file
Heather Lau, MD (Ultragenyx) Dr. Lau has received personal compensation for serving as an employee of Ultragenyx. Dr. Lau has or had stock in Ultragenyx.