Neurodevelopmental Outcomes in Children with PHACE Syndrome

Pediatr Dermatol. 2016 Jul;33(4):415-23. doi: 10.1111/pde.12870. Epub 2016 Jun 13.


Background: Practitioners who work with children with posterior fossa, facial hemangiomas, arterial anomalies, cardiovascular anomalies, and abnormalities of the eye (PHACE) syndrome need information about neurodevelopmental outcomes to provide appropriate anticipatory guidance and education for parents. This study aimed to determine the neurodevelopmental outcomes in children with PHACE syndrome and identify which children may be at greatest risk for delays.

Methods: Children with a diagnosis of PHACE syndrome (ages 4-18 yrs) were recruited from the PHACE Syndrome International Clinical Registry and Genetic Repository. Participants (n = 25) underwent a neurodevelopmental evaluation at a children's hospital tertiary care referral center between 2009 and 2013. Children completed standardized neurocognitive tests assessing multiple domains. Parents completed standardized questionnaires assessing behavioral and emotional functioning.

Results: Results were analyzed according to cohort and individual subject. Mean scores for the cohort did not differ significantly from test norms in most domains. The only subtest that the cohort scored lower on than test norms was Word Structure, a language task. Forty-four percent of the sample scored within the normal range in all domains, 28% had one score in the at-risk range (1-2 standard deviations [SDs] below the mean), 12% had two or more scores in the at-risk range, and 16% had at least one score in the impaired range (>2 SDs below the mean).

Conclusion: Although most children in this cohort of patients with PHACE syndrome did not have significant neurodevelopmental deficits, a subset of patients had delays in multiple areas. Practitioners who work with these children should routinely ask about neurocognitive and developmental skills. Children with more severe phenotypes should be referred for appropriate evaluations and intervention services.

MeSH terms

  • Adolescent
  • Aortic Coarctation / complications*
  • Child
  • Child Development
  • Child, Preschool
  • Eye Abnormalities / complications*
  • Female
  • Humans
  • Male
  • Neurocutaneous Syndromes / complications*
  • Neurodevelopmental Disorders / etiology*
  • Registries
  • Risk Factors

Supplementary concepts

  • PHACE association