A Behavioral Phenotype in the de Lange Syndrome

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Abstract
Extract: The behavior of nine patients with the de Lange syndrome was studied using videotape, a recording protocol of eight standardized stimulus conditions, and a visual, digital time reference which permitted precise coding and quantitative analysis. These patients avoid or reject social interactions and physical contact, and they do not distinguish in this between a stranger and the mother or her substitute. Social interactions with the adult stranger were scored in patients 1–7 as negative for 28–56 sec/min, whereas they were positive for 16 sec/min. Statistical significance was at the level of P < 0.01. In the case of the mother negative responses ranged from 21–45 sec/min and positive from 3–27 sec/min. The patients exhibit infrequent facial expressions of emotion, and frequently display stereotypic movements. On the other hand, vestibular stimulation or vigorous movement appeared to be an effective means of eliciting pleasurable responses. When held in arms in the vertical position only one of nine children smiled at all and the frequency for that child was 0.8/min. When the child was bounced vigorously in the same position, all smiled but one who was too large to be bounced. In the eight the frequency of smiling ranged from 0.8–3.6/min. The data obtained indicate that a specific behavioral phenotype is associated with this syndrome. Speculation: It seems clear that there is a distinct behavioral phenotype in the de Lange syndrome. We believe that this is only one of many such patterns of behavior that characterize children with clinical syndromes. The delineation of these phenotypes should provide important evidence on somatic determinants of behavior.

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