This Article Extract Full Text (PDF) Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Theodoropoulos, D. S. Articles by Van Riper, L. A. Search for Related Content PubMed PubMed Citation Articles by Theodoropoulos, D. S. Articles by Van Riper, L. A. Social Bookmarking                         What's this?

PEDIATRICS Vol. 111 No. 3 March 2003, pp. 711-712

Immune Deficiency and Hearing Loss in CHARGE Association

To the Editor.—

Edwards et al,¹ in their study of 22 patients with CHARGE association (choanal atresia, heart defects, retarded growth/development, genital hypoplasia, ear anomalies, hearing loss), report hearing loss in 17 (77%) of them. Conductive and mixed hearing loss are present in 7 (32%) patients.¹ Hearing loss in these patients is not entirely attributable to malformation or other ear developmental defects. As the authors point out in their review of the literature, 100% of patients with CHARGE have recurrent otitis media with effusion.¹ Recurrent otitis media is a more consistent aspect of CHARGE than some of the features included in the CHARGE acronym, such as coloboma, heart defects, choanal atresia, or genital hypoplasia. The frequent ear infections in CHARGE have an anatomic basis, but other factors may be important as well. Immune defects have been identified in some patients with CHARGE association. They often include hypogammaglobulinemia, IgG₂ subclass deficiency, and impaired specific antibody responses. On a few occasions T-cell defects have been detected.²

It is interesting that among the chromosomal aberrations reported by the authors, there is a chromosome 22 deletion. Chromosomal abnormalities have been reported in some patients with CHARGE association and immune defects.² Some of them had chromosome 22q11 aberrations, and the question of a contiguous gene syndrome whose features may overlap with DiGeorge syndrome and/or related thymic abnormalities has been raised.³ The possibility of disruption of the light chain gene in chromosome 22 has also been considered.³ Microdeletions of 22q11, however, are infrequent in CHARGE patients, and most CHARGE patients with immune deficiency have no chromosomal abnormalities.

The authors make an important contribution to the management of hearing loss in CHARGE association by introducing the concept of a "window of opportunity" for optimal audiologic intervention. Early audiologic referral and prompt intervention are likely to affect infant development in multiple ways. Aggressive treatment of recurrent otitis media makes audiologic intervention possible and maximizes its effects during this critical period of development. Early referral for assessment of immune function is indicated in some patients with CHARGE.

Demetrios S. Theodoropoulos, MD, MSc, DSc, FACMG, FAAP
Departments of Internal Medicine and Pediatrics
University of Wisconsin Medical School
Madison, Wisconsin
Department of Allergy
Marshfield Clinic and Marshfield Medical Research Foundation
Marshfield, WI 54449

Georgios A. Theodoropoulos, BSc
Cleveland Hearing and Speech Center
Rainbow Babies and Children’s Hospital/University Hospitals of Cleveland
Cleveland, OH 44121

REFERENCES

1. Edwards BM, Kileny PR, Van Riper LA. CHARGE syndrome: a window of opportunity for audiologic intervention. Pediatrics.2002; 110 :119 –126[Abstract/Free Full Text]
2. Theodoropoulos DS. Immune deficiency in CHARGE association. Clin Med Res. In press
3. Clementi M, Tenconi R, Turolla L, et al. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet.1991; 41 :246 –250[CrossRef][Web of Science][Medline]

---

 
In Reply.—

We are most appreciative of the comments of Theodoropoulos and Theodoropoulos regarding our recently published article.¹ Identification of elevated hearing thresholds in multiply involved newborns is an attainable goal requiring the vigilance of many pediatric professionals. We do wish to temper their statement that "Aggressive treatment of recurrent otitis media makes audiologic intervention possible ... " Mild or greater conductive and mixed hearing losses clearly modify the acquisition of speech, language, and hearing in newborns and infants and can be minimized by appropriate, early medical treatment. However, strictly speaking, audiologic intervention is not critically dependent on aggressive treatment of recurring otitis media. Audiologists who manage infant hearing screening programs or are active in other forms of early intervention regularly face the task of identifying children with mixed and/or conductive hearing losses and devise plans to minimize the developmental effects. Air and bone conducted evoked potential threshold testing, among several options, helps in the early identification of these children.

Indeed, one of the points of the recent report was that despite recurring otitis media, auditory electrophysiologic results obtained early in life have validity as indicators of hearing function years later.

Bruce M. Edwards, MA, CCCA, FAAA
Paul R. Kileny, PhD, FASHA
Lori A. Van Riper, MS, CCCA
Otolaryngology—Head and Neck Surgery
Division of Audiology and Electrophysiology
Ann Arbor, MI 48109-0312

REFERENCE

1. Edwards BM, Kileny PR, Van Riper LA. CHARGE syndrome: a window of opportunity for audiologic intervention. Pediatrics.2002; 110 :119 –126

---

PEDIATRICS (ISSN 1098-4275). ©2003 by the American Academy of Pediatrics

CiteULike    Connotea    Del.icio.us    Digg    Facebook    Reddit    Technorati    Twitter    What's this?

This Article Extract Full Text (PDF) Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Theodoropoulos, D. S. Articles by Van Riper, L. A. Search for Related Content PubMed PubMed Citation Articles by Theodoropoulos, D. S. Articles by Van Riper, L. A. Social Bookmarking                         What's this?