Published online February 1, 2005
PEDIATRICS Vol. 115 No. 2 February 2005, pp. 512 (doi:10.1542/peds.2004-2467)
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Stephanie's Story: Caring for a Child With Terminal 22q Deletion Syndrome

Sarah M. Axel, MD
Cohasset Pediatrics
Cohasset, MA 02025

Kathleen Gorman Wermuth
Abington, MA 02351

To the Editor.—

I was pleased to read the article "Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum" in the August issue of Pediatrics.1

I follow a 6-year-old girl with an unbalanced chromosomal translocation very similar to the 11 reported cases: 46,XX,der(22)t(8,22)(p23.1;q13.1). She has severe developmental delays with essentially no language and has been affected by gastroesophageal reflux, asthma, and seizures.

Her mother has written a book, Stephanie's Story, Love Knows No Handicaps,2 detailing the care involved with raising this child with multiple disabilities. I think the book could help other families cope with the physical and emotional strain involved and could be used by them to help educate family and friends who have trouble understanding what they go through.

REFERENCES

  1. Manning MA, Cassidy SB, Clericuzio C, et al. Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics. 2004;114 :451 –457[Abstract/Free Full Text]
  2. Wermuth KG. Stephanie's Story, Love Knows No Handicaps. Frederick, MD: Publish America; 2004. Available at: www.publishamerica.com
PEDIATRICS (ISSN 1098-4275). ©2005 by the American Academy of Pediatrics




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