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Neurodevelopmental Outcomes in Children with PHACE Syndrome
Cheryl L Brosig1, Dawn H Siegel1,2, Anita N Haggstrom3,4
1Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
Pediatric Dermatology
|June 14, 2016
Summary
Most children with PHACE syndrome had typical neurodevelopmental outcomes, but some experienced delays. Early identification and intervention are crucial for those with more severe phenotypes.
Area of Science:
- Pediatric Neurology
- Neurodevelopmental Disorders
- Genetics
Background:
- Posterior fossa, facial hemangiomas, arterial anomalies, cardiovascular anomalies, and abnormalities of the eye (PHACE) syndrome requires understanding neurodevelopmental outcomes.
- Accurate information is vital for guiding parents and providing education.
Purpose of the Study:
- Determine neurodevelopmental outcomes in children with PHACE syndrome.
- Identify risk factors for developmental delays in this population.
Main Methods:
- Recruited 25 children (ages 4-18) diagnosed with PHACE syndrome.
- Conducted neurodevelopmental evaluations using standardized cognitive tests.
- Utilized parent questionnaires for behavioral and emotional functioning assessment.
Main Results:
- Cohort mean scores generally aligned with test norms, except for lower performance in Word Structure (language).
- 44% of children had normal scores across all domains.
- Significant at-risk or impaired scores were observed in 56% of the sample.
Conclusions:
- While many children with PHACE syndrome exhibit normal neurodevelopment, a subset experiences delays.
- Routine screening for neurocognitive and developmental skills is recommended for practitioners.
- Referral for evaluations and interventions is advised for children with severe phenotypes.
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