| 1. |
- Wang, Li-San, et al.
(författare)
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Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
- 2015
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Ingår i: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
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Tidskriftsartikel (refereegranskat)abstract
- Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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| 2. |
- Carney, Daniel P. J., et al.
(författare)
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Using developmental trajectories to examine verbal and visuospatial short-term memory development in children and adolescents with Williams and Down syndromes
- 2013
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Ingår i: Research in Developmental Disabilities. - : Elsevier. - 0891-4222 .- 1873-3379. ; 34:10, s. 3421-3432
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Tidskriftsartikel (refereegranskat)abstract
- Williams (WS) and Down (DS) syndromes have been associated with specifically compromised short-term memory (STM) subsystems. Individuals with WS have shown impairments in visuospatial STM, while individuals with DS have often shown problems with the recall of verbal material. However, studies have not usually compared the development of STM skills in these domains, in these populations. The present study employed a cross-sectional developmental trajectories approach, plotting verbal and visuospatial STM performance against more general cognitive and chronological development, to investigate how the domain-specific skills of individuals with WS and DS may change as development progresses, as well as whether the difference between STM skill domains increases, in either group, as development progresses. Typically developing children, of broadly similar cognitive ability to the clinical groups, were also included. Planned between- and within-group comparisons were carried out. Individuals with WS and DS both showed the domain-specific STM weaknesses in overall performance that were expected based on the respective cognitive profiles. However, skills in both groups developed, according to general cognitive development, at similar rates to those of the TD group. In addition, no significant developmental divergence between STM domains was observed in either clinical group according to mental age or chronological age, although the general pattern of findings indicated that the influence of the latter variable across STM domains, particularly in WS, might merit further investigation.
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| 3. |
- Danielsson, Henrik, et al.
(författare)
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Developmental delays in phonological recoding among children and adolescents with Down syndrome and Williams syndrome
- 2016
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Ingår i: Research in Developmental Disabilities. - : PERGAMON-ELSEVIER SCIENCE LTD. - 0891-4222 .- 1873-3379. ; 55, s. 64-76
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Tidskriftsartikel (refereegranskat)abstract
- This study examined the development of phonological recoding in short-term memory (STM) span tasks among two clinical groups with contrasting STM and language profiles: those with Down syndrome (DS) and Williams syndrome (WS). Phonological recoding was assessed by comparing: (1) performance on phonologically similar and dissimilar items (phonological similarity effects, PSE); and (2) items with short and long names (word length effects, WLE). Participant groups included children and adolescents with DS (n = 29), WS (n = 25) and typical development (n = 51), all with average mental ages around 6 years. The group with WS, contrary to predictions based on their relatively strong verbal STM and language abilities, showed no evidence for phonological recoding. Those in the group with DS, with weaker verbal STM and language abilities, showed positive evidence for phonological recoding (PSE), but to a lesser degree than the typical group (who showed PSE and WLE). These findings provide new information about the memory systems of these groups of children and adolescents, and suggest that STM processes involving phonological recoding do not fit with the usual expectations of the abilities of children and adolescents with WS and DS. (c) 2016 Elsevier Ltd. All rights reserved.
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