title: Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation.
abstract: 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.
authors.affiliation: Kennedy Institute, John Hopkins University School of Medicine, Baltimore, MD.
authors.forename: A L
authors.initials: AL
authors.lastname: Reiss
authors.forename: C
authors.initials: C
authors.lastname: Cianchetti
authors.forename: I L
authors.initials: IL
authors.lastname: Cohen
authors.forename: B
authors.initials: B
authors.lastname: DeVries
authors.forename: R
authors.initials: R
authors.lastname: Hagerman
authors.forename: V
authors.initials: V
authors.lastname: Hinton
authors.forename: U
authors.initials: U
authors.lastname: Froster
authors.forename: A
authors.initials: A
authors.lastname: Lachiewicz
authors.forename: M
authors.initials: M
authors.lastname: Mazzocco
authors.forename: W
authors.initials: W
authors.lastname: Sobesky
mesh_terms: D001519:Behavior; D003071:Cognition; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics / Q000523:psychology*; D006801:Humans; D008297:Male; D009484:Neuropsychology; D011795:Surveys and Questionnaires