Family pedigree analysis of children with severe breath-holding spells,☆☆,

https://doi.org/10.1016/S0022-3476(97)70251-8Get rights and content

Abstract

We examined family pedigrees of children with severe breath-holding spells (SBHS). There were 57 probands (27 males, 30 females; 44 cyanotic, 13 pallid) whose families comprised 1683 individuals. We found that 31 (27%) of 114 proband parents and 9 (21%) of 43 proband siblings had current or prior SBHS. Father-to-son transmission was observed in 7 instances. There were 7 families with 2 or more affected siblings and 5 families with 3 or more affected members. From 85 nuclear families, 130 individuals had current or prior SBHS (59 males, 71 females; male/female ratio, 1:1.2). These data suggest that the most likely underlying genetic inheritance pattern in SBHS is an autosomal dominant trait with reduced penetrance. (J Pediatr 1997;130:647-51)

Section snippets

METHODS

All families identified prospectively from referrals made to a pediatric neurologist for evaluation of BHS (1989 through 1994) were considered for analysis. A diagnosis of SBHS was based on the history of multiple episodes (>3) defined by the following clinical sequence: provocation, followed by crying to a point of noiselessness, accompanied by a change of color (cyanotic or pallid), and ultimately a loss of consciousness with an alteration in body tone. These SBHS were further subclassified

RESULTS

Of 60 eligible children, 57 (one monozygotic twin pair tabulated as one proband) were identified as having SBHS (13 pallid, 44 cyanotic). Among probands with cyanotic BHS, 5 had predominantly cyanotic episodes but also had occasional pallid events. There were 27 males and 30 females among the probands. Family pedigrees were ascertained from all 57 families with BHS (1683 individuals, 76 proband siblings, 688 paternal and 747 maternal relatives). SBHS were noted in 14 proband siblings, 7

DISCUSSION

In this study we were able to prospectively analyze the family pedigree data among children referred with a diagnosis of SBHS. As with any clinically based diagnosis, there exists no “objective” test to secure a diagnosis in these extended family members. We applied the same clinical diagnostic criteria to the history of all family members who were being identified as possible breath holders, as we did for probands. We were able to follow up relatives with telephone interviews and to review

References (12)

There are more references available in the full text version of this article.

Cited by (0)

Supported in part by a grant from the Clinical Research Center at the University of Connecticut Health Center.

☆☆

Reprint requests: Francis J. DiMario Jr., MD, Department of Pediatrics, Connecticut Children's Medical Center, 282 Washington St., Hartford, CT 06106.

0022-3476/97/$5.00 + 0 9/22/80247

View full text