Neurodevelopmental Abnormalities in Children With PHACE Syndrome

Tangtiphaiboontana, Jennifer; Hess, Christopher P.; Bayer, Michelle L.; Drolet, Beth A.; Nassif, Lisa M.; Metry, Denise; Barkovich, A. James; Frieden, Ilona J.; Fullerton, Heather J.

doi:10.1177/0883073812450073

Cited by 28 publications

(27 citation statements)

References 35 publications

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“…The rate of deficits reported in the current study differs from previous studies that reported neurodevelopmental abnormalities in 38% to 69% of children with PHACE syndrome . It is difficult to make comparisons across studies, because previous reports differed significantly in their methodologies and varied regarding how neurodevelopmental “abnormalities” were defined.…”

Section: Discussioncontrasting

confidence: 85%

Neurodevelopmental Outcomes in Children with PHACE Syndrome

Brosig

Siegel

Haggstrom

et al. 2016

Pediatric Dermatology

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Section: Discussioncontrasting

confidence: 85%

Neurodevelopmental Outcomes in Children with PHACE Syndrome

Brosig

Siegel

Haggstrom

et al. 2016

Pediatric Dermatology

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“…Although the children did not consistently score lower than the general population on most neurocognitive tests, they did score lower on language tasks . In a retrospective study of 29 children with PHACE syndrome referred for neurologic evaluations, 69% were found to have neurodevelopmental abnormalities including language delay, speech abnormalities, gross motor delay, and fine motor delay . Furthermore, over half of the children in this study with structural brain abnormalities based on magnetic resonance imaging (MRI) review had abnormal neurodevelopmental outcomes .…”

Section: Discussionmentioning

confidence: 67%

Natural history of PHACE syndrome: A survey of adults with PHACE

Stefanko

Cossio

Powell

et al. 2019

Pediatric Dermatology

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Background Awareness of PHACE syndrome has increased; however, little information exists regarding its natural history, especially in patients over the age of 18. We aim to describe the natural history of PHACE to enhance clinical management and counseling of patients. Methods A cohort of patients ≥ 18 years was identified through the PHACE Syndrome Registry and a Vascular Anomalies Clinic Database. A cross‐sectional survey was designed after a review of the literature by PHACE experts (IF, JP, DS). Questions were selected by consensus, and the survey was conducted using the Qualtrics platform and via in‐person interviews. A 75% response rate was found. Results Eighteen adults—17 females and one transgender male—completed the survey. Respondents ranged in age from 18 to 59, with 24 being the mean age. Eighty‐nine percent reported experiencing headaches, and 17% reported experiencing acute but transient symptoms mimicking acute ischemic stroke, later diagnosed as atypical migraines. Thirty‐three percent reported hearing loss, and 67% endorsed dental issues. One patient experienced two arterial dissections. Three‐fourths who attempted conception were successful, and none of their children had clinical features of PHACE. Because results were based on a retrospective survey, data captured were prone to recall bias and not objective. Results were limited by a small sample size. Conclusions Health care providers should be aware of a possible increased risk of neurovascular complications, including atypical migraines mimicking transient ischemic attacks and arterial dissection, in adults with PHACE. Heritability has not been demonstrated, and future studies are needed to assess the risk of infertility.

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“…Management includes imaging of the cerebral vasculature to determine the risk for stroke, and propranolol may be used to treat the hemangiomas. PHACE appears to be associated with increased risk of abnormal neurodevelopmental outcome, particularly when neuroimaging abnormalities are present, though limited outcome data have been reported [53]. Nonetheless, many patients do not have severe developmental problems.…”

Section: Specific Malformations With Unknown Genetic Causementioning

confidence: 99%

The genetics of cerebellar malformations

Aldinger¹,

Doherty

2016

Seminars in Fetal and Neonatal Medicine

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SUMMARY The cerebellum has long been recognized for its role in motor co-ordination, but it is also increasingly appreciated for its role in complex cognitive behavior. Historically, the cerebellum has been overwhelmingly understudied compared to the neocortex in both humans and model organisms. However, this tide is changing as advances in neuroimaging, neuropathology, and neurogenetics have led to clinical classification and gene identification for numerous developmental disorders that impact cerebellar structure and function associated with significant overall neurodevelopmental dysfunction. Given the broad range in prognosis and associated medical and neurodevelopmental concerns accompanying cerebellar malformations, a working knowledge of these disorders and their causes is critical for obstetricians, perinatologists, and neonatologists. Here we present an update on the genetic causes for cerebellar malformations that can be recognized by neuroimaging and clinical characteristics during the prenatal and postnatal periods.

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Neurodevelopmental Abnormalities in Children With PHACE Syndrome

Cited by 28 publications

References 35 publications

Neurodevelopmental Outcomes in Children with PHACE Syndrome

Neurodevelopmental Outcomes in Children with PHACE Syndrome

Natural history of PHACE syndrome: A survey of adults with PHACE

The genetics of cerebellar malformations

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