Neurodevelopmental Outcomes in Children with PHACE

December 1, 2016 by  
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NEURODEVELOPMENTAL OUTCOMES IN CHILDREN WITH PHACE SYNDROME:
Pediatr Dermatol. 2016 Jul;33(4):415-23. doi: 10.1111/pde.12870. Epub 2016 Jun 13.
Neurodevelopmental Outcomes in Children with PHACE Syndrome.
Brosig CL1, Siegel DH1,2, Haggstrom AN3,4, Frieden IJ5,6, Drolet BA1,2.
Author information
Abstract
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.

NOVA and VBF Launch PHACE FB Page

December 1, 2016 by  
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After working together for 20+ years Karla Hall of NOVA and and Linda Shannon, PhD of VBF have launched a new social media Facebook page for those affected by PHACE Syndrome to communicate openly and share information. Both Women will monitor the site and answer questions as they come up. Visit the new page and start sharing with other PHACE Syndrome families.

https://www.facebook.com/phacesyndrome

How Safe is Propranolol? (Article)

December 1, 2016 by  
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http://www.aappublications.org/news/2016/09/29/safe-Propranolol-for-treatment-of-infant-Hemangiomas-pediatrics-0916?sso=1&sso_redirect_count=1&nfstatus=401&nftoken=00000000-0000-0000-0000-000000000000&nfstatusdescription=ERROR%3A+No+local+token

NOVA Blanket Campagin

December 1, 2016 by  
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Blankets for Babies with Hemangioma

Dr. Denise Adams moves to Boston Children’s Hospital

April 13, 2016 by  
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NOVA Medical Director, Denise Adams, MD has transferred her practice to Boston Children’s Hospital. Dr. Adams has served as the Medical Director of NOVA since 2005 and has been an advisor to our organization since 1999. Dr. Adams can be reached at denise.adams@childrens.harvard.edu. Visit our physician directory for more information on physicians.

2016 Research and Medical Updates

April 13, 2016 by  
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     In the 2011 years that NOVA has worked to assist individuals diagnosed with vascular anomalies there have been incredible advances in the science of vascular tumors and malformations. These scientific discoveries often lead to targeted therapies and treatments for patients. The relief on a parent’s face, when they discover there is finally a treatment for the pain and suffering their child has endured reminds us at NOVA of the important life changing work we have been involved in for over 2 decades now. Some of the latest scientific discoveries are listed here:

  Researchers at Memorial Sloan Kettering Cancer Institute have identified the PIK3CA gene in vascular malformations. This gene is a known cancer gene and its isolation in vascular malformations will lead to better treatments and therapies for patients. You can read the entire article on the MSKCI website:  https://www.mskcc.org/blog/surprising-discovery-connects-rare-vascular-disease-cancer-gene

   Another discovery this year has led us to a better understanding of Port Wine Stains and Sturge Webber Syndrome. Published in The New England Journal of Medicine, these vascular birthmarks have been linked to a single change in a single gene after conception. This genetic anomaly resulting in a PWS is known to affect about one in 300 babies, while Sturge-Weber Syndrome occurs in about one in 20,000 births. Advances in bioinformatics have helped identify when and where the molecular switch gets tipped. Jonathan Pevsner, director of bioinformatics at the Kennedy Krieger Institute in Baltimore, says: “It’s great because we have an immediate biochemical understanding of what’s happening, and that means we can immediately move on to the idea of what to do about it.” You can read the full article at http://zalea.com/article/15336/2016/03/31/the-science-behind-the-port-wine-birthmark?utm_source=Combined+Newsletter+List&utm_campaign=84acffbcf6-Weekly_Newsletter4_04_2016&utm_medium=email&utm_term=0_5615138614-84acffbcf6-367630497

 

 

sildenafil for the treatment of lymphatic malformations.

April 9, 2014 by  
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Lymphatic Malformations can be very challenging for the clinician to treat.  Interventions include sclerotherapy and surgery are invasive and may result in complications and recurrence of the lesion.   A new study published in the Journal of the American Academy of Dermatology 2014 March 20 pii: S0190-9622(14)0119-0 examines  sildenafil generic for viagra to treat lymphatic malformations.

Patients were placed on 20 weeks of oral sildenafil, LM were assessed for volum and symptoms.  Sever male children and 3 females were observed; ages 13-85 months.  There was a therapeutic response of softening and compressiblity in all patients.  Adverse events were minimal.  A larger randomized controlled study is needed to better verify these results however; it seems sildenafil may reduce lymphatic malformation volume and symptoms in some patients.

 

Karla Hall

Reference:

J Am Acad Dermatol. 2014 Mar 20. pii: S0190-9622(14)01119-0. doi: 10.1016/j.jaad.2014.02.005. [Epub ahead of print]

An open-label study to evaluate sildenafil for the treatment of lymphatic malformations.

Danial C1, Tichy AL1, Tariq U2, Swetman GL1, Khuu P1, Leung TH1, Benjamin L1, Teng J1, Vasanawala SS2, Lane AT3.

Author information

  • 1Department of Dermatology, Lucile Packard Children’s Hospital at the Stanford University School of Medicine, Palo Alto.
  • 2Department of Radiology, Stanford University School of Medicine, Stanford.
  • 3Department of Dermatology, Lucile Packard Children’s Hospital at the Stanford University School of Medicine, Palo Alto. Electronic address: alfred.lane@stanford.edu.

Summary on Propranolol

April 7, 2014 by  
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Just finished reading 6 Abstracts on the use of Propranolol in the management of Infantile Hemangioma.  All of the information came  from presentations at the 2014 ISSVA meeting in Melbourne, Australia last week.    A summary is below.  Much of the information is just now being published in the latest Medical Journals so it truly is the latest medical information on the subject.

Propranolol is a widely prescribed medication classified as a  beta-blocker used for the treatment of infantile hemangioma.  Since 2007 it has been used off-label because there has not been an approved formulation of propranolol, specific for infants and the treatment of infantile hemangioma.  Several institutions here in the USA and Europe have taken part in a 2+ year study assessing the safety of propranolol in infants.  As a result an oral formulation will be available here in the USA in June 2014 under the brand name Hemangeol.  (Pierre Fabre Pharmaceuticals USA will be manufacturing the medication)  The studies have not only produced a new brand name of propranolol here in the USA but it has produced data on the safety and efficacy of this medication in the treatment of infantile hemangioma.

Oral Propranolol has a favorable risk profile in the pediatric population studied.  In one study of  460 infants the IH improved in 88% of the patients treated with no unexpected safety concerns.   This same group reported that patients tolerated the medication with mild  or moderate side effects.  The only contraindication being noted is bronchial reactivity.  (1,2)

Another study examined the impact of propranolol on pediatric growth and human growth hormone levels in infants.  No impact was found. (3)

A group from Russia studied the effects of propranolol on the cardiovascular system with and without preexisting heart problems.  154 infants with IH were prescribed propranolol and cardiological evaluation with EKG, ECHO, holter monitoring and blood pressure was observed for more then 9 months.  Only a small percentage of adverse events were noted.  This group recommends monitoring children at risk for cardiac complications during use of propranolol.  A similar study out of Oregon concluded that routine ECG monitoring for patients prior to propranolol use is not necessary and a more purposed driven strategy is a better approach.  (4,5)

272 Hemangioma Patients were evaluated for developmental psychomotor skills.  No delays or effects on psychomotor development was found. (6)

 

In my review of this information propranolol appears to be safe to use in most infants and children presenting with infantile hemangioma.  Patients should be monitored during treatment and physicians should be awear of the indications for concern.  More studies are on going.

References

1.Christine Leaute-Labreze, Ilona Frieden, Pierre Vabres, Sorilla Prey, Jean-Jacques Voisard, Propranolol in IH: Results from an international randomized placebo controlled study.

2.Sorilla Prey, Christinen Leute-Labreze, Ilona Frieden, Allain Delarue, Jean Jacquez Voisard, Safety of oral propranolol for the treatment of IH: 2 years results of a controlled multicenter trial

3.Rachel Giese, Mario Cleves, Jessica Boswell, James Suen, Gresham Richter, Propranolol for Treatment of IH: Efficacy and Effect on Growth and Development

4. Margarita Timofeeva and Natalia Katlukova, Cardiovascular Complications of Propranolol Treatment for IH

5.Kevin Yarbrough, Alfan Krol, Julianne Mann, Sabra Leitenberger, Carol MacArthur, Is Routine ECG necessary prior to initiation of propranolol for treatment of IH

6.  Andre Moyakine, Denise Hermans, Joris Fuijkschot, Carine van der Vleuten, Development Milestone: no negative effects detected upon psychomotor development

 

 

As these articles get published we will update the references and citations.

Karla Hall

April 2014

 

 

 

NOVA Digital Newsletter

April 5, 2014 by  
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Stay Current with the latest happenings at NOVA- join our Digital Newsletter at:  http://novanews.us3.list-manage.com/subscribe?u=d423bb4733907668886e4915b&id=4347ae3735

NOVA on Facebook

May 23, 2013 by  
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NOVA has two Facebook pages:  https://www.facebook.com/#!/pages/National-Organization-of-Vascular-Anomalies-NOVA/98394768856  and  https://www.facebook.com/#!/groups/NOVANews/  join us!

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