For those of you who remember, last summer I came up with the idea to do my thesis project (for a Master's in Public Health) on newborn screening for CAH.  Well, in spite of a ton of help from Cathy Kusch at the Magic Foundation, I only got 15 surveys back that I could use.  I also decided that it wasn't really going to work for my requirements regardless of the number of surveys so I didn't pursue it further.  But I have analyzed the 15 I got back and the results were pretty interesting so I thought I would share them.  Keep in mind that the sample size is small and it was not a random sample.

The purpose of the survey was to compare children with CAH salt-losing 21-hydroxylase deficiency who were diagnosed through newborn screening with those who weren't to see if newborn screening resulted in earlier diagnosis and/or less severe illness.

The requirements for inclusion in the survey were:

1) Child has CAH 21-hydroxylase deficiency - Salt-losing

2) Child is the oldest child with CAH

3) Child was born after 1985 in the United States

I received 15 surveys which I thought matched the criteria above. The children in the survey were born in 12 different states. There were 4 girls and 11 boys. 7 of the 15 children were born in states which had newborn screening at the time of their births, but only 3 of the 7 were diagnosed because of the screening (1 was a female who was diagnosed at birth, the other 3 were not diagnosed until they experienced a salt-losing crisis due to the newborn screening results being reported or interpreted incorrectly).

The age at diagnosis ranged from 1 day to 237 days with a median of 9 days. Three of the girls were diagnosed at birth but one was not diagnosed until she was 9 days old in spite of the fact that she had ambiguous genitalia. The age at diagnosis for the boys ranged from 6 to 237 with a median of 12 days.

Prior to diagnosis, 9 (60%) of the infants suffered from lethargy, 10 (67%) experienced weight loss, and 7 (47%) experienced vomiting. (None of the children diagnosed through newborn screening experienced vomiting). After they were diagnosed, the children were hospitalized from 2 to 14 days, with a median of 5 days. And 5 of the 15 (33%) were hospitalized again during their first year. The girls were hospitalized from 5 to 10 days with an average length of hospitalization of 6.5 days. The boys were hospitalized from 2 to 14 days with an average of 6.5 days also.

Looking at the 11 males only, 3 were diagnosed through newborn screening, and 8 were not diagnosed until they had a salt-losing crisis. The median age at diagnosis for those diagnosed through newborn screening was 9.5 days, compared to 14 days for those who were diagnosed after a salt-losing crisis. The boys diagnosed through newborn screening were hospitalized for 2 to 5 days with an average of 3 days. Those who had a salt-losing crisis were hospitalized for 4 to 14 days with an average of 7.6 days (more than 4 extra days!). Boys who were not diagnosed through newborn screening were 14 times more likely to have lethargy and 3.5 times more likely to experience weight loss than boys who were diagnosed through newborn screening. 75% of the boys who were not diagnosed through newborn screening experienced vomiting. None of the boys diagnosed through newborn screening did.

There weren’t enough responses to make any firm conclusions, but from the very limited data it appears that children with salt-losing CAH who are diagnosed through newborn screening are diagnosed earlier, experience less severe symptoms and are hospitalized for a shorter length of time.

Thanks to all who took the time to complete surveys.  The results are interesting even with so few responses.  Maybe in another lifetime I will be able to pursue this further.

If anyone has any questions feel free to e-mail me.  Also I found some good references for much larger studies similar to this that have been done that I'll be happy to share if anyone is interested.