Quality of Life in Children With Sturge-Weber Syndrome

National Institutes of Health Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)26-32
Number of pages7
JournalPediatric Neurology
Volume101
DOIs
StatePublished - Dec 2019

Keywords

  • G protein subunit alpha q
  • Leptomeningeal enhancement
  • National Institutes of Health Toolbox
  • Port-wine birthmark
  • Quality of life in neurological disorders
  • Sturge-Weber syndrome
  • Vascular malformation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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    National Institutes of Health Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group (2019). Quality of Life in Children With Sturge-Weber Syndrome. Pediatric Neurology, 101, 26-32. https://doi.org/10.1016/j.pediatrneurol.2019.04.004