Risk of Dysphagia and Speech and Language Delay in PHACE Syndrome

• Published in: Pediatric dermatology Vol. 32; no. 1; pp. 64 - 69
• Main Authors: Martin, Kari L., Arvedson, Joan C., Bayer, Michelle L., Drolet, Beth A., Chun, Robert, Siegel, Dawn H.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01-01-2015
• Subjects: Aortic Coarctation - diagnosis; Aortic Coarctation - epidemiology; Aortic Coarctation - pathology; Child; Child, Preschool; Cranial Fossa, Posterior - pathology; Deglutition Disorders - diagnosis; Deglutition Disorders - epidemiology; Deglutition Disorders - pathology; Eye Abnormalities - diagnosis; Eye Abnormalities - epidemiology; Eye Abnormalities - pathology; Female; Hemangioma - complications; Humans; Infant; Intracranial Arteriovenous Malformations - complications; Language Development Disorders - diagnosis; Language Development Disorders - epidemiology; Language Development Disorders - etiology; Lip Neoplasms - complications; Male; Neurocutaneous Syndromes - diagnosis; Neurocutaneous Syndromes - epidemiology; Neurocutaneous Syndromes - pathology; Oropharyngeal Neoplasms - complications; Prevalence; Retrospective Studies; Risk Factors; Syndrome; Thoracic Surgery
• ISSN: 0736-8046; 1525-1470
• DOI: 10.1111/pde.12447

PHACE (posterior fossa, hemangioma, arterial lesions, cardiac, and eye) syndrome consists of infantile hemangiomas of the head and neck along with a spectrum of noncutaneous anomalies. Neurodevelopmental abnormalities have also been noted. Here we describe the association between PHACE syndrome and abnormalities in oropharyngeal development and coordination manifesting as dysphagia or speech and language delay. A retrospective chart review was conducted of 34 patients with PHACE syndrome. Data were collected from prior clinical notes and radiographic studies and the results of a comprehensive questionnaire that those who attended the July 2012 PHACE Syndrome Family Conference completed. Seventeen of 34 patients with PHACE syndrome and signs or symptoms of dysphagia or speech or language problems were included for analysis. Nine had dysphagia, seven had a history of cardiac surgery, four had a posterior fossa malformation, and seven had lip or oropharynx hemangiomas. Speech or language delay was noted in 16; posterior fossa abnormalities and lip or oropharynx hemangiomas were the most commonly seen associated finding in this group. There was considerable overlap between subset populations with dysphagia, speech delay, and language delay. A subset of individuals with PHACE syndrome experience dysphagia, speech delay, or language delay. This risk seems to be greater in certain subsets of patients, including those with posterior fossa malformations or lip or oropharynx hemangiomas and those with a history of cardiac surgery. Although this descriptive study was not comprehensive enough to examine prevalence, the high incidence of dysphagia and speech and language delay seen in our cohort warrants future prospective studies to further investigate the association.