ATROPHY OF CORPUS STRIATUM IN NORMAL MALE AT RISK OF HUNTINGTON'S CHOREA

The Lancet ◽  
1986 ◽  
Vol 327 (8494) ◽  
pp. 1388-1389 ◽  
Author(s):  
L.H. Carrasco ◽  
C.S. Mukherji
Author(s):  
Donald R. McLean ◽  
Taichi Nihei

SUMMARY:Dopamine (DA) uptake by platelets from 41 patients at risk to develop Huntington’s chorea was assayed and compared to controls. The DA uptake was significantly higher in the at risk group. However, the at risk group did not separate into two distinct subgroups. which reduces the usefulness of the assay as a disease prognosticator.


1966 ◽  
Vol 112 (488) ◽  
pp. 723-726 ◽  
Author(s):  
Valerie Cowie ◽  
D. B. Gammack

Huntington's chorea is transmitted by a rare autosomal Mendelian dominant gene. Its hereditary transmission is facilitated by a late onset of the condition in many cases. Often the first signs are not seen until late in the reproductive period, so that it is not uncommon for a patient already to have produced a number of children before the diagnosis is made. On a theoretical basis, 50 per cent. of these offspring are at risk for carrying the gene and consequently for developing the condition themselves.


1977 ◽  
Vol 2 (4) ◽  
pp. 294-298 ◽  
Author(s):  
Alberto Arregui ◽  
James P. Bennett ◽  
Edward D. Bird ◽  
Henry I. Yamamura ◽  
Leslie L. Iversen ◽  
...  

1987 ◽  
Vol 150 (3) ◽  
pp. 319-323 ◽  
Author(s):  
B. Martindale

The autosomal dominant mode of inheritance of Huntington's Chorea (HC) has been established for over 100 years. Strong psychological defences against the acceptance of this knowledge are commonly found both in professionals and in Huntington families and relatives who are at risk. One consequence of maintaining these defences is the continuing transmission of the gene, and therefore the disease, to succeeding generations. The defences of professional persons protect them from the difficult and unsettling task of providing genetic counselling to healthy relatives at risk. An increase in awareness of the psychodynamics involved may lead to constructive thinking about the current deficiencies in care and counselling services provided for these families.


1998 ◽  
Vol 29 (2) ◽  
pp. 109-116 ◽  
Author(s):  
Margie Gilbertson ◽  
Ronald K. Bramlett

The purpose of this study was to investigate informal phonological awareness measures as predictors of first-grade broad reading ability. Subjects were 91 former Head Start students who were administered standardized assessments of cognitive ability and receptive vocabulary, and informal phonological awareness measures during kindergarten and early first grade. Regression analyses indicated that three phonological awareness tasks, Invented Spelling, Categorization, and Blending, were the most predictive of standardized reading measures obtained at the end of first grade. Discriminant analyses indicated that these three phonological awareness tasks correctly identified at-risk students with 92% accuracy. Clinical use of a cutoff score for these measures is suggested, along with general intervention guidelines for practicing clinicians.


2020 ◽  
Vol 29 (3) ◽  
pp. 1283-1300
Author(s):  
Xigrid T. Soto ◽  
Andres Crucet-Choi ◽  
Howard Goldstein

Purpose Preschoolers' phonological awareness (PA) and alphabet knowledge (AK) skills are two of the strongest predictors of future reading. Despite evidence that providing at-risk preschoolers with timely emergent literacy interventions can prevent academic difficulties, there is a scarcity of research focusing on Latinx preschoolers who are dual language learners. Despite evidence of benefits of providing Latinxs with Spanish emergent literacy instruction, few studies include preschoolers. This study examined the effects of a supplemental Spanish PA and AK intervention on the dual emergent literacy skills of at-risk Latinx preschoolers. Method A multiple probe design across four units of instruction evaluated the effects of a Spanish supplemental emergent literacy intervention that explicitly facilitated generalizations to English. Four Latinx preschoolers with limited emergent literacy skills in Spanish and English participated in this study. Bilingual researchers delivered scripted lessons targeting PA and AK skills in individual or small groups for 12–17 weeks. Results Children made large gains as each PA skill was introduced into intervention and generalized the PA skills they learned from Spanish to English. They also improved their English initial sound identification skills, a phonemic awareness task, when instruction was delivered in Spanish but with English words. Children made small to moderate gains in their Spanish letter naming and letter–sound correspondence skills and in generalizing this knowledge to English. Conclusion These findings provide preliminary evidence Latinx preschoolers who are dual language learners benefit from emergent literacy instruction that promotes their bilingual and biliterate development.


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