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SCADD Survey

     As most or all of you know, expanded Newborn Screening covers the fatty acid oxidation disorders  (FAOD).  Probably the most controversial among these is short-chain acyl-CoA dehydrogenase deficiency  (SCADD) because of the uncertainty as to clinical effect.  There are a number of case reports and probably  many more unpublished cases in which SCADD has been identified in infants/children with problems,  among which have been hypotonia, hypoglycemia, recurrent vomiting and developmental delay.  On the  other hand, to our knowledge there have been only two published case reports of problems in infants with  SCADD who were identified by newborn screening (Koeberl DW, et al. Pediatric Research 2003; 54:1-5  and Bhala A, et al. Journal of Pediatrics 1995; 126:910-915).  The question is whether SCADD is (and the  extent to which it is) a source of clinical problems, i.e., whether the problems in the clinically identified  cases are coincidental and not causally related to SCADD or do indeed represent disease from SCADD.   To begin to get a handle on this question we’re conducting this very simple survey.  We would appreciate  your completing and returning it.  We will compile the information and send it to the membership. 

 1. How many cases of SCADD identified in Newborn Screening have you confirmed and followed?

 

 2. Of these infants/children with SCADD, how many have shown clinical symptoms, either metabolic       episodes or chronic clinical abnormalities?  

 3. Have you had any deaths among the Newborn Screened infants/children with SCADD? (If yes, please      indicate how many)

   - If yes How Many

Would you be willing to be contacted directly by us if we have questions?




 If yes, please provide us with the contact information. (Name, Phone #, email address)

 Name:

 Phone:

 E-mail Address:

 Thank you very much for completing and sending us this questionnaire. If you have any questions,  please feel free to contact:
       
 Harvey Levy               617-355-6346           (harvey.levy@childrens.harvard.edu)
 Susan Waisbren       617-355-4686           (susan.waisbren@childrens.harvard.edu)