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Fragile-X Chromosome and Learning Disability
938
LFITE RS TO TilE EDITOR
patients with autism and oth er pervasive developmental disorders? This Journal. 26: 162-165 .
Fraglle-X C hromosome and Learning Disabillty To the Editor: I read with inte rest the case report by Gol d fine et al.. "Fragile-X C hro moso me Associated With Prim a ry Learn ing Disab ility." in the J uly 1987 issue of the Journal. Th ey described a za-yca r-o td man with border line intellectual abiliti es who was diagnosed as having lea rn ing disa bility with seco ndary behavio ral problems. Th e a uthors believed that th is was the first case of learning d isabilities descri bed in a Fragile-X ma le who was not reta rded . His learni ng problem s included deficits in auditory processing with difficult y in word an d sentence struc tu re. linguist ic relationships. a nd oral d irectio ns. He also had odd man nerism s. social withdrawa l. a short atte ntio n span . and he suffered inordinate ou tb ursts in respon se to frustra tio n. I wish to poi nt out that this is a classic presentation for a highfunctioning (lQ> 70 ) Fragile-X ma le and it has been described seve ral times before . In IQ85. we reported both atte ntio n problems and lea rni ng disabilities as the presenting features of four high-functioning Fragile-X males {Hagerman ct al.). Thei r most significa nt problem s were in processing audi tory information, and thi s was related to their significan t a tte ntio n probl e ms. Areas of streng th were in receptive vocabulary a nd reading decoding. whereas areas of significa nt weak ness were abs tract reasoning a nd novel problem solving. The most significa nt acade mic weak ness was mathem at ics related to th e abs tract aspec ts of nu mbe r co nce ptualization. an d thi s is also a very co m mon problem in heterozygou s fema les (Kemper et al.. 19R6). Han son et al. ( 19R6) also described 10 high-function ing Fragile-X males a nd reviewed their lan guage deficits. Again. auditory process ing a nd attenti onal probl em s were significant deficits in the Fragile-X ma les who were not retarded . Th eir speec h was also described as clu ttered: that is. it was ra pid a nd d vsfluent . Stutteri ng or pcrscverution was a freque nt problem. as was the case in the repo rt by Gold fine et aJ. (1987) . We ha ve also described odd mannerisms. social withdrawal. and frequent outbursts in Frag ile-X males at all cognitive levels.
including low normal and borderline IQ. Fragile-X males (Hagerman et al., 1QR6).
In o ur experience. approximately 10% of school-aged Fragile-X males have an IQ of 70 or higher and will present as learning disabled or hyperactive. Both ph ysical and behavioral features. along with the fa mily history . can be helpful in suggesting the dia gnosis. but a chromoso me a nalysis for Fragile-X m ust be or dered to co nfirm the diagnosis. The search for Fragi le-X among learning disabled children has also led to a greater a ppreciation of the role of all types of cytogenetic a bno rmalities in the etiology of lea rn ing problem s. When a Fragile-X cytogenetic analysis is ordered all of th e chro mosomes should he evaluated. a nd ot her find ings such as sex c hro mosome abno rmalities. small interstitial deletion s. or unbalanced tra nslocation s ar c a lso occasionally seen. pa rticularly in the dysmorph ic learning di sabled child . Randi J. Hagerm an . M.D . Child Develo pme nt Unit Th e Chi ldren's Hospital Denve r. Colorado
References Goldfine. P.E.. McPh erson , P.M.• Ha rdest y. V.A.. Heath. G .D.. Beau regard . L. J.• Baker. A. A. ( 1987). Fragile-X chromosome associated with prim a ry learni ng disability. This Journal. 26:589592. Hagerman. R. J .• Kem per. M.• Hu dson . M. (l(85). Lea rning d isabilities a nd a tte ntio nal problem s in boys with th e fragile X synd rome. Am",. J. Dis. Ch ild.. 139:674-67R. Hagerm an . R. J.• Jackson. A. W.. Lcvitas. A., Rimland, B.• Braden . M. ( 1986 ). An analysis of auti sm in 50 males with the fragile X syndro me. Am er. J . Med. G('1/('l.. 23:359-374. Han son. D. M ., Jack son . A. W.• Hager ma n. R. J. (1986) . Speech disturhan ces (clutteri ng) in m ildly imp aired ma les with the Ma rtinbell/ Fragile X syndrome. Amer. J . M ed. Genet.• 23:195- 206. Kempe r. M. B.• Hagerm an . R. J.• Ahmad. R. S.. et al. (1986) . Cognit ive profiles and the spec trum of clini cal manifestations in heterozygou s fra (X) fema les. Amer. J. Med. Genet .. 23; 139 -1 56.
LFITE RS TO TilE EDITOR
patients with autism and oth er pervasive developmental disorders? This Journal. 26: 162-165 .
Fraglle-X C hromosome and Learning Disabillty To the Editor: I read with inte rest the case report by Gol d fine et al.. "Fragile-X C hro moso me Associated With Prim a ry Learn ing Disab ility." in the J uly 1987 issue of the Journal. Th ey described a za-yca r-o td man with border line intellectual abiliti es who was diagnosed as having lea rn ing disa bility with seco ndary behavio ral problems. Th e a uthors believed that th is was the first case of learning d isabilities descri bed in a Fragile-X ma le who was not reta rded . His learni ng problem s included deficits in auditory processing with difficult y in word an d sentence struc tu re. linguist ic relationships. a nd oral d irectio ns. He also had odd man nerism s. social withdrawa l. a short atte ntio n span . and he suffered inordinate ou tb ursts in respon se to frustra tio n. I wish to poi nt out that this is a classic presentation for a highfunctioning (lQ> 70 ) Fragile-X ma le and it has been described seve ral times before . In IQ85. we reported both atte ntio n problems and lea rni ng disabilities as the presenting features of four high-functioning Fragile-X males {Hagerman ct al.). Thei r most significa nt problem s were in processing audi tory information, and thi s was related to their significan t a tte ntio n probl e ms. Areas of streng th were in receptive vocabulary a nd reading decoding. whereas areas of significa nt weak ness were abs tract reasoning a nd novel problem solving. The most significa nt acade mic weak ness was mathem at ics related to th e abs tract aspec ts of nu mbe r co nce ptualization. an d thi s is also a very co m mon problem in heterozygou s fema les (Kemper et al.. 19R6). Han son et al. ( 19R6) also described 10 high-function ing Fragile-X males a nd reviewed their lan guage deficits. Again. auditory process ing a nd attenti onal probl em s were significant deficits in the Fragile-X ma les who were not retarded . Th eir speec h was also described as clu ttered: that is. it was ra pid a nd d vsfluent . Stutteri ng or pcrscverution was a freque nt problem. as was the case in the repo rt by Gold fine et aJ. (1987) . We ha ve also described odd mannerisms. social withdrawal. and frequent outbursts in Frag ile-X males at all cognitive levels.
including low normal and borderline IQ. Fragile-X males (Hagerman et al., 1QR6).
In o ur experience. approximately 10% of school-aged Fragile-X males have an IQ of 70 or higher and will present as learning disabled or hyperactive. Both ph ysical and behavioral features. along with the fa mily history . can be helpful in suggesting the dia gnosis. but a chromoso me a nalysis for Fragile-X m ust be or dered to co nfirm the diagnosis. The search for Fragi le-X among learning disabled children has also led to a greater a ppreciation of the role of all types of cytogenetic a bno rmalities in the etiology of lea rn ing problem s. When a Fragile-X cytogenetic analysis is ordered all of th e chro mosomes should he evaluated. a nd ot her find ings such as sex c hro mosome abno rmalities. small interstitial deletion s. or unbalanced tra nslocation s ar c a lso occasionally seen. pa rticularly in the dysmorph ic learning di sabled child . Randi J. Hagerm an . M.D . Child Develo pme nt Unit Th e Chi ldren's Hospital Denve r. Colorado
References Goldfine. P.E.. McPh erson , P.M.• Ha rdest y. V.A.. Heath. G .D.. Beau regard . L. J.• Baker. A. A. ( 1987). Fragile-X chromosome associated with prim a ry learni ng disability. This Journal. 26:589592. Hagerman. R. J .• Kem per. M.• Hu dson . M. (l(85). Lea rning d isabilities a nd a tte ntio nal problem s in boys with th e fragile X synd rome. Am",. J. Dis. Ch ild.. 139:674-67R. Hagerm an . R. J.• Jackson. A. W.. Lcvitas. A., Rimland, B.• Braden . M. ( 1986 ). An analysis of auti sm in 50 males with the fragile X syndro me. Am er. J . Med. G('1/('l.. 23:359-374. Han son. D. M ., Jack son . A. W.• Hager ma n. R. J. (1986) . Speech disturhan ces (clutteri ng) in m ildly imp aired ma les with the Ma rtinbell/ Fragile X syndrome. Amer. J . M ed. Genet.• 23:195- 206. Kempe r. M. B.• Hagerm an . R. J.• Ahmad. R. S.. et al. (1986) . Cognit ive profiles and the spec trum of clini cal manifestations in heterozygou s fra (X) fema les. Amer. J. Med. Genet .. 23; 139 -1 56.