Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation.
New molecular research has provided strong evidence for different forms of the fragile X mutation. These findings suggest the need to develop a more standardized and sensitive method for determining neurobehavioral effects of the fragile X gene(s), particularly for molecular studies of patients who do not have obvious mental retardation. This report describes a brief screening questionnaire designed to increase the detection of neurobehavioral dysfunction in individuals from fragile X families who are included in new molecular studies. Improved detection of the affected state in fragile X syndrome will allow more valid clinical data to be correlated with the important molecular information currently being collected.
Reiss
A L
AL
Kennedy Institute, John Hopkins University School of Medicine, Baltimore, MD.
Cianchetti
C
C
Cohen
I L
IL
DeVries
B
B
Hagerman
R
R
Hinton
V
V
Froster
U
U
Lachiewicz
A
A
Mazzocco
M
M
Sobesky
W
W
D001519:Behavior; D003071:Cognition; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics / Q000523:psychology*; D006801:Humans; D008297:Male; D009484:Neuropsychology; D011795:Surveys and Questionnaires