DEVELOPMENTAL-DATA ON INDIVIDUALS WITH THE BRACHMANN-DELANGE SYNDROME

One hundred twenty-two patients with clinically confirmed Brachmann-de Lange syndrome (BDLS) were evaluated developmentally. Recruitment was made from our genetics department and through meetings of the Corneli a de Lange Syndrome Foundation parent support group. Developmental inf ormation was obtained from records of physicians, schools and developm ental centers, or from parents on each of the 122 individuals, allowin g division into four groups for study: group 1 (n = 48) underwent form al developmental assessments, which generated intelligence or developm ental quotients, and had a completed parental questionnaire with speci fic developmental questions regarding ages of skills mastered; group I I (n = 23) had additional developmental records available without form al testing, as well as the questionnaire; group III (n = 22) had only a completed questionnaire; and group IV (n = 29) had formal developmen tal testing or other developmental records but no available questionna ire. These data were analyzed in order to be able to predict attainabl e psychomotor development. Average scores on formal testing were found to be in the mild to moderate level of mental retardation, ranging fr om below 30 to 85, with an average intelligence quotient of 53, higher than previously reported. Visual-spatial memory and perceptual organi zation skills were found to be strengths. Younger individuals born bef ore 1980 demonstrated higher scores on testing. Early intervention app ears to play a major role in the level of developmental achievement. ( C) 1993 Wiley-Liss, Inc.