Few studies have been conducted comparing the FMR1 mutation in multiple tissues of individuals affected with fragile X syndrome. We report a postmortem study of the FMR1 mutation in multiple tissues from a high-functioning male with fragile X syndrome. This man was not mentally retarded and had only
Assessment of behavior change in a fragile-X syndrome male treated with folic acid
โ Scribed by Wells, Thomas E. ;Madison, Lynda S. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 264 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-7299
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โฆ Synopsis
The e f f e c t s of f o l i c a c i d treatment were assessed i n a 7-year-old boy w i t h Fragile-X ( f r a ( X > > syndrome u t i l i z i n g a within-subject experimental design. Dependent v a r i a b l e s c o n s i s t e d of classroom behavior, a c t i v i t y l e v e l f i m p u l s i v e n e s s , and a t t e n t i v e n e s s . While inprovements i n a l l dependent va.riables were observed during f o l i c a c i d t r e a t n e n t i n comparison t o i n i t i a l b a s e l i n e f p l a c e b o c o n d i t i o n s , t h e s e changes were maintained i n a f i n a l r e t u r n t o t h e placebo condition. These r e s u l t s do n o t support unequivocally t h e e f f e c t i v e n e s s of f o l i c a c i d treatment. F o l k acid treatment may have f a c i l i t a t e d behavior changes t h a t were then mair?tained by n a t u r a l contingencies i n t h e c h i l d ' s environment.
Introduction
Recently Fragile-X ( f r a ( X ) > p a t i e n t s have been t r e a t e d with high doses of f 0 1 . i ~ acid..
๐ SIMILAR VOLUMES
Fragile X syndrome is the leading form of hereditary mental retardation, but the condition is still underdiagnosed in young children. Because of concern that the fragile X phenotype is subtle in young boys and therefore contributes to underdiagnosis of the disorder, we evaluated 73 boys (36 with fra
A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200