Variable expression of the fragile X syndrome in heterozygous females of normal intelligence

✍ Scribed by Wolff, Peter H. ;Gardner, Judith ;Lappen, John ;Paccia, Jeanne ;Meryash, David

• Publisher: John Wiley and Sons
• Year: 1988
• Tongue: English
• Weight: 701 KB
• Volume: 30
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320300121

✦ Synopsis

The cognitive, l i n g u i s t i c and memory functions of nonretarded f r a g i l e X heterozygotes and matched c o n t r o l s w e r e examined by a d e t a i l e d p r o t o c o l of neuropsychological measures i n order t o determine t h e incidence of s p e c i f i c learning d i s a b i li t i e s i n t h i s subgroup, and t o compare t h e i r performance p r o f i l e s with those of c o n t r o l s u b j e c t s (mothers of Down syndrome sons). There w e r e no group d i f f e r e n c e s i n psychometric i n t e l l i g e n c e , but t h e heterozygotes scored s i g n i f i c a n t l y lower than c o n t r o l s on most academic achievement t e s t s , as w e l l as on language-based neuropsychological measures. By neuropsychological c r i t e r i a , 8 of t h e 15 heterozygotes, b u t only one of t h e c o n t r o l s , e x h i b i t e d performance p r o f i l e s c o n s i s t e n t with a diagnosis of s p e c i f i c l e a r n i n g d i s a b i l i t y , and s i m i l a r t o cognitive p r o f i l e s canmonly seen i n i n d i v i d u a l s frorr. t h e general population with developmental dyslexia.