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|Wednesday, November 30, 2011
|SCIDS Screening: Coming to a State Near You
|by Pediatric Perspectives at 10:50 AM
Karen M. Dahl, MD, Infectious Disease Specialist
Spectrum Health Medical Group
Helen DeVos Children’s Hospital
In early October, the state of Michigan became only the third state in the country to fully implement mandatory screening of newborns for Severe Combined Immunodeficiency (SCID). It is important that community physicians educate families about the new screening and the potential implications of an abnormal result.
You should tell families that we’re looking for a very rare immune deficiency, and that treatment is far more effective if the defect is identified early, before the baby becomes sick. Left undiagnosed, most infants with SCID die within their first year from an infection that their compromised immune system is unable to fight off. A hematopoietic stem cell transplant is a curative treatment, with outcomes significantly better when performed in an otherwise healthy child with no sign of infection.1
Since the screening program just went into effect in October, you may still see patients in your practice with undiagnosed SCID. These infants are typically fine at birth, but within the first few months develop problems. Infectious complications include viral respiratory or gastrointestinal disease, and recurrent bacterial infections (otitis media and pneumonia). Other problems include failure to thrive and severe eczema, which may be attributed to dietary causes. Atypical SCID may present after 1 year with similar symptoms, as well as autoimmune cytopenias, granulomatous cutaneous lesions, and lymphopenia.2
Only Wisconsin and New York also routinely screen all newborns for SCIDS. That will soon change, however, since Connecticut, Delaware, Illinois, Minnesota, Mississippi, Rhode Island, and West Virginia have passed laws requiring the testing but have not yet implemented them. Massachusetts and California universally offer SCID testing, although it is not mandated, while Arizona , Pennsylvania, and Texas offer it to a select population, or by request.3
The screening test is not diagnostic; but if you receive a positive on the screening, we make a point of seeing the child within 48 hours for additional lab work, or you can order the labs yourself with our support. Our first patient to screen positive had the positive screen results reported on a Friday, we saw the patient on Monday in Infectious Disease clinic, and by Wednesday, we knew it was a false positive.
In Michigan, three sites are on call to follow up on the newborn screening results: our group at Helen Devos Children’s Hospital in Grand Rapids; Children’s of Michigan in Detroit; and C.S. Mott Children’s Hospital in Ann Arbor.
Do you have any questions/concerns/comments about SCID newborn screening?
1. Brown L, Xu-Bayford J, Allwood Z, et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood. 2012. 117(11):3243–3246.
2. van der Burg M, Gennery AR. The expanding clinical and immunological spectrumof severe combined immunodeficiency. Eur J Pediatr. 2011;170:561–571.
3. National Newborn Screening Status Report. Updated November 21, 2011. Available at: genes-r-us.uthscsa.edu/nbsdisorders.pdf. Accessed November 28, 2011.
|Friday, November 04, 2011
|Autistic Spectrum Disorder: Thoughts on Sibling Risk and General Screening
|by Pediatric Perspectives at 05:59 AM
Anthony J. Richtsmeier, Jr., MD, Behavioral Pediatrician
Spectrum Health Medical Group
Helen DeVos Children’s Hospital
You may have seen the recent study in Pediatrics about the risk of recurrence for autism spectrum disorder (ASD) in families who already have a child with ASD. To the surprise of many, the recurrence rate in this relatively large sample (664 infants) was 18.7%. This is much higher than the 3% to 10% suggested by smaller studies and may even be an underestimation because the study evaluated children at 36 months; higher functioning ASD may not manifest obvious symptoms so early.
The early identification of children with an autism spectrum disorder is not always easy. Problems with social and emotional development, important in suspecting ASD, are generally less obvious than other developmental differences.
This study reminds us of the importance of being sensitive to developmental differences at every visit, and of screening at 18 and 24 months with the Modified Checklist for Autism in Toddlers (M-CHAT), as recommended by the American Academy of Pediatrics. You can download the M-CHAT free here.
Interestingly, an article published in the July issue of Pediatrics questioned the value of such routine screening, concluding that there may not be enough sound evidence to support its implementation. I would take issue with the authors of that article. We are learning that children with autism who receive specific early intervention show more improvement than children who do not—at least in clinical studies. One problem is that in real life, “early intervention” may merely consist of weekly appointments with speech and/or occupational therapy. These may be helpful but much more is likely needed.
There is tremendous variation among children with symptoms along the autism continuum, thus generalizing about treatment is difficult. The vast majority of families I see report benefits from available therapies and behaviorally based treatments. But I also see children who receive a lot of therapy demonstrate minimal improvement, while other children improve with minimal formal intervention. This may be the child’s particular therapeutic and/or environmental influences, or it may be the way the brain is programmed – or both. More research is needed to understand how to help each child optimally develop.
I would submit that the burden of proof against routine screening lies with those who say there is more potential harm than benefit. Data are limited, but the risk of ignoring delays and allowing families to struggle relatively unsupported and children’s autistic features to be ingrained seems higher to me than any risks that may be associated with screening. If any problems are identified, pediatricians can provide families with basic information about the findings and potential implications; share information regarding the child’s strengths as well as challenges; express commitment to help families navigate through choices; refer to Early On for evaluation and intervention; offer general behavioral recommendations; and share information about specialty referral and resource opportunities.
This brings me back to the sibling study. If you hear from parents concerned about having another child with ASD, remind them that even while the study showed about a 19% risk, that is a group statistic and individual risks could vary. It also means that in the aggregate there was more than 80% likelihood that the subsequent siblings studied did not have ASD. Even if a future sibling is affected, there may be a different severity.
There are many different findings and conditions that can be associated with autism. Children with ASD should receive thorough pediatric evaluation for abnormal findings and possible conditions that can be associated with ASD, have those issues pursued diagnostically and be referred as indicated. Chromosomal microarray has replaced high-resolution chromosome analysis as test of choice in the evaluation of autism. An underlying abnormality is more likely to be uncovered in ASD children with intellectual disabilities and/or abnormal physical issues than in those without. In most cases of autism today, a cause cannot be found.
When it comes to ASD, I believe that you, as pediatricians, should promote a realistic element of hope in these families for several reasons: A positive outlook can help promote a more positive outcome; some children develop very unique abilities ; and, most importantly, developmental gains are common, with some being dramatic.
Anthony J. Richtsmeier, Jr., MD, is a behavioral pediatrician with the Spectrum Health Medical Group who practices at Helen DeVos Children’s Hospital in Grand Rapids, Michigan.