Family pedigree analysis of children with severe breath-holding spells☆,☆☆,★
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)
- et al.
Breath-holding spells: their relationship to syncope, convulsions and other phenomena
J Pediatr
(1943) Genetic counselling: an introduction
- et al.
Autonomic nervous system func-tion in severe breath-holding spells
Pediatr Neurol
(1993) - et al.
Breath-holding spells (cyanotic and pallid infantile syncope)
Pediatrics
(1967) - et al.
Cyanotic and pallid syncopal attacks in children (breath-holding spells)
Dev Med Child Neurol
(1969) - et al.
Transient hypoxic crisis in children
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