Abstract Details

Title Iron deficiency and response to treatment with regard to sleep difficulties in Angelman Syndrome

Topic Child Neurology and Developmental Neurology

Presentation(s) P1 - Poster Session 1 (5:30 PM-6:30 PM)

Poster/Presentation
Number 7-038

Objective To determine if Angelman Syndrome (AS) patients have a higher incidence of iron deficiency than normal controls, and if iron therapy improves their sleep difficulties.

Background UBE3A-associated ubiquitin ligase is altered in AS. UBE3A also associates with HERC2, a protein that regulates iron metabolism. Though about 60% of AS patients experience sleep difficulties, effective treatments are lacking. We investigated iron status in a cohort of AS patients using an open-label design.

Design/Methods

The medical record system at Mayo Clinic–Rochester was queried for identifying AS patients who had established care in the AS Clinic between January 1st, 2013, and December 31st, 2017, with age under 18 years, and who had ferritin level and nocturnal polysomnography performed before receiving iron therapy. Ferritin levels were compared to age- and sex-matched healthy controls (3:1 ratio).

Results We identified 19 patients (9 female) meeting criteria (mean age 6.2±4.4 years). The parents of all 19 reported sleep initiation and maintenance difficulties. Fifteen patients had undergone polysomnography; nine had elevated periodic limb movement index. Mean ferritin level was 19.9±8.5 mcg/L, while the mean ferritin level of controls was 27.8±17.8 mcg/L (p-value 0.1317). Seventeen cases were provided iron therapy (oral 3-5 mg/kg/day or intravenous iron sucrose 5 mg/kg single dose). Twelve of the 19 cases had follow-up data after receiving iron therapy; all 12 reported improvements in sleep quality and daytime symptoms; one had gastrointestinal upset. Eight had serum ferritin levels rechecked after iron therapy; all increased (mean 24±5.1 mcg/L). One patient who repeated polysomnography after iron therapy had reduction in periodic limb movement index from 8.7 to 0.

Conclusions Sleep difficulties and iron deficiency as reflected in low ferritin levels are common in children with AS. Iron therapy (oral or intravenous) is well tolerated and provides modest improvements in sleep quality in children with AS.

Authors/Disclosures
Conor Ryan, MD (Noran Neurology) PRESENTER	No disclosure on file
Ralitza H. Gavrilova, MD (Mayo Clinic)	Dr. Gavrilova has nothing to disclose.
Suresh Kotagal, MD, FAAN (Mayo Clinic)	No disclosure on file

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