TY - JOUR
T1 - Quality of Life in Children With Sturge-Weber Syndrome
AU - National Institutes of Health Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group
AU - Harmon, Kelly A.
AU - Day, Alyssa M.
AU - Hammill, Adrienne M.
AU - Pinto, Anna L.
AU - McCulloch, Charles E.
AU - Comi, Anne M.
AU - Ball, Karen L.
AU - Fisher, Brian J.
AU - Juhász, Csaba
AU - Kim, Helen
AU - Koenig, Jim
AU - Lawton, Michael T.
AU - Lo, Warren D.
AU - Marchuk, Douglas A.
AU - Miles, Daniel K.
AU - Moses, Marsha A.
AU - Pevsner, Jonathan
AU - Roach, E. Steve
AU - Wilfong, Angus A.
N1 - Publisher Copyright:
© 2019
PY - 2019/12
Y1 - 2019/12
N2 - Aim: We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. Methods: Subjects were seen clinically and consented for research. All 22 patients filled out the Pediatric Neuro-QoL. The Neuro-QoL subscores were converted to T-scores to compare with the referenced control population. Twenty-one participants also filled out the Brain Vascular Malformation Consortium Database Questionnaire containing data pertaining to Sturge-Weber syndrome–related medical history, medications, comorbidities, and family history. All data were analyzed with a significance threshold of P < 0.05. Results: Cognitive function quality of life was significantly lower (P < 0.001) in pediatric patients with Sturge-Weber syndrome compared with referenced control subjects. Male gender (P = 0.02) was associated with lower cognitive function Neuro-QoL. The extent of skin (R = −0.46, P = 0.04), total eyelid port-wine birthmark (R = −0.56, P = 0.007), eye (R = −0.58, P = 0.005), and total Sturge-Weber syndrome involvement (R = −0.63, P = 0.002) were negatively correlated with cognitive function Neuro-QoL. A younger age at seizure onset was associated with lower cognitive function Neuro-QoL (hazard ratio = 0.90, P = 0.004) even after controlling for extent of brain, skin, or eye involvement. Antidepressant use was associated with lower cognitive function Neuro-QoL (P = 0.005), and cognitive function Neuro-QoL was negatively correlated with depression Neuro-QoL; however, after adjusting for depression this relationship was no longer significant. Conclusions: The results suggest targeting cognitive function Neuro-QoL in treatment trials and reiterate the prognostic value of early seizure onset. In addition, sex-related differences were noted, which should be further studied.
AB - Aim: We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. Methods: Subjects were seen clinically and consented for research. All 22 patients filled out the Pediatric Neuro-QoL. The Neuro-QoL subscores were converted to T-scores to compare with the referenced control population. Twenty-one participants also filled out the Brain Vascular Malformation Consortium Database Questionnaire containing data pertaining to Sturge-Weber syndrome–related medical history, medications, comorbidities, and family history. All data were analyzed with a significance threshold of P < 0.05. Results: Cognitive function quality of life was significantly lower (P < 0.001) in pediatric patients with Sturge-Weber syndrome compared with referenced control subjects. Male gender (P = 0.02) was associated with lower cognitive function Neuro-QoL. The extent of skin (R = −0.46, P = 0.04), total eyelid port-wine birthmark (R = −0.56, P = 0.007), eye (R = −0.58, P = 0.005), and total Sturge-Weber syndrome involvement (R = −0.63, P = 0.002) were negatively correlated with cognitive function Neuro-QoL. A younger age at seizure onset was associated with lower cognitive function Neuro-QoL (hazard ratio = 0.90, P = 0.004) even after controlling for extent of brain, skin, or eye involvement. Antidepressant use was associated with lower cognitive function Neuro-QoL (P = 0.005), and cognitive function Neuro-QoL was negatively correlated with depression Neuro-QoL; however, after adjusting for depression this relationship was no longer significant. Conclusions: The results suggest targeting cognitive function Neuro-QoL in treatment trials and reiterate the prognostic value of early seizure onset. In addition, sex-related differences were noted, which should be further studied.
KW - G protein subunit alpha q
KW - Leptomeningeal enhancement
KW - National Institutes of Health Toolbox
KW - Port-wine birthmark
KW - Quality of life in neurological disorders
KW - Sturge-Weber syndrome
KW - Vascular malformation
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UR - http://www.scopus.com/inward/citedby.url?scp=85072196917&partnerID=8YFLogxK
U2 - 10.1016/j.pediatrneurol.2019.04.004
DO - 10.1016/j.pediatrneurol.2019.04.004
M3 - Article
C2 - 31526690
AN - SCOPUS:85072196917
SN - 0887-8994
VL - 101
SP - 26
EP - 32
JO - Pediatric Neurology
JF - Pediatric Neurology
ER -