[Assessment of chromosome and gene analysis for the diagnosis of the fragile X syndrome in Japan: annual incidence].
We assessed the utilization of diagnostic analyses for fragile X syndrome by a mail-in questionnaire on 1) the number of patients analyzed and diagnosed with the syndrome in the past year, 2) types of diagnostic analyses used, 3) clinical features that made physicians to decide analyses, 4) purpose of analyses, and 5) informed consent for analyses. Facilities for the mentally handicapped, as well as hospitals and physicians specialized in genetics, completed our questionnaire. Among 101 responders, total of 543 cases underwent analyses. Nine cases (including 3 cases over 20 years old) were finally diagnosed in a year. The rate of positive findings was 0.6% for chromosomal analyses, and 8% for gene analyses. Physicians dicided to make analyses based on clinical features such as mental retardation, characteristic face, and autistic features, in order to find the cause (s) of the subjects' condition. For gene analyses, more than a half of physicians obtained a form of informed consent. Specialists should have interest in this syndrome because the analyses identified new adult cases. Establishment of a guideline for diagnosis of this syndrome requires gene analyses based on evidence and informed consent.
Horiguchi
Toshihiro
T
Department of Developmental Disorders, National Institute of Mental Health, National Center for Neurology and Psychiatry, Kodaira, Tokyo.
Kaga
Makiko
M
Inagaki
Masumi
M
D001321:Autistic Disorder / Q000235:genetics; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007223:Infant; D007258:Informed Consent; D008607:Intellectual Disability / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D008297:Male