Behavioral phenotype of individuals with Down syndrome

Chapman, Robin S.; Hesketh, Linda J.

doi:10.1002/1098-2779(2000)6:2<84::aid-mrdd2>3.3.co;2-g

Cited by 172 publications

(233 citation statements)

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“…Cognitive impairment is the salient feature of the syndrome, with IQ ranging from 30 to 70 and averaging around 50 (Chapman and Hesketh, 2000). All studies indicate, however, that not all skills are affected in all persons or to the same extent.…”

Section: Discussionmentioning

confidence: 99%

Functional Analysis of Genes Implicated in Down Syndrome: 1. Cognitive Abilities in Mice Transpolygenic for Down Syndrome Chromosomal Region-1 (DCR-1)

et al. 2004

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Down syndrome occurs every 1/1000 births and is the most frequent genetic cause of mental retardation. The genetic substrate of Down syndrome, an extra chromosome 21, was discovered by Lejeune, half-a-century ago, and the chromosome has been fully sequenced, although the gene(s) implicated in the mental retardation observed with the syndrome are still unknown. Observations of patients with partial trisomy of the 21q22.2 fragment suggest that most of the signs of the syndrome, including mental retardation, could be influenced by the region referred to as the Down Minimal Chromosomal Region-1 (DCR-1) for that reason. Using the extensive syntenies between human chromosome 21 and murine chromosome 16, Smith et al. (1995, 1997) developed transpolygenic mice with human chromosome 21 fragments covering the DCR-1. Here, we explored cognitive performances in mice over-expressing the genes carried by these fragments with the Morris water-maze and fear-conditioning procedures. The 152F7 transpolygenic mice had lower performance levels, compared to non-transgenic and other transgenic mice on most measurements in the water-maze. In fear-conditioning, all transgenic mice recorded lower performance levels compared to controls in the altered context stage. The 230E8, 141G6 and 285E6 mice failed to learn or react when the sound used as the conditional stimulus was added. These results showed that the 152F7 region played a crucial role in cognitive impairment, supporting the hypothesis of DYRK-1A gene involvement. However, the data presented here also suggest that other chromosomal regions within the DCR-1 may be involved in specific cognitive functions.

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Section: Discussionmentioning

confidence: 99%

Functional Analysis of Genes Implicated in Down Syndrome: 1. Cognitive Abilities in Mice Transpolygenic for Down Syndrome Chromosomal Region-1 (DCR-1)

et al. 2004

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“…Down syndrome is characterized by language deficits in some, but not all, affected individuals, progressive dementia in many adults, and some examples of social and psychopathological symptoms [6,31]. The Ts65Dn mouse model of Down syndrome is trisomic for a region of chromosome 16 in mice that corresponds to the region of trisomy chromosome 21 region in human Down syndrome [132].…”

Section: Assessment Of Social Behaviors In Mouse Models Of Neurodevelmentioning

confidence: 99%

Behavioral phenotyping of mouse models of neurodevelopmental disorders: Relevant social behavior patterns across the life span

Ricceri

Moles²,

Crawley

2007

Behavioural Brain Research

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“…Mental retardation remains the most striking, permanent feature of TRS21. IQ ranges from 30 to 70 with an average around 50 (Chapman and Hesketh, 2000). Well documented psychological profiles of TRS21 (Krinsky-McHale et al, 2002;Laws, 2002;Clark and Wilson, 2003;Brown et al, 2003;Pennington et al, 2003) show that not all skills are affected in all persons or to the same extent.…”

Section: Introductionmentioning

confidence: 99%

Mouse Models of Cognitive Disorders in Trisomy 21: A Review

et al. 2006

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Trisomy 21 (TRS21) is the most frequent genetic cause of mental retardation. Although the presence of an extra copy of HSA21 is known to be at the origin of the syndrome, we do not know which 225 HSA21 genes have an effect on cognitive processes. Mouse models of TRS21 have been developed using syntenies between HSA21 and MMU16, MMU10 and MMU17. Available mouse models carry extra fragments of MMU16 or of HSA21 that cover all of HSA21 (chimeric HSA21) or MMU16 (Ts16); some carry large parts of MMU16 (Ts65Dn, Ts1Cje, Ms1Cje), while others have reduced contiguous fragments covering the D21S17-ETS2 region or single transfected genes. This offers a nest design strategy for deciphering cognitive (learning, memory and exploration) and associated brain abnormalities involving each of these chromosomal regions. This review confirms the crucial but not exclusive contribution of the D21S17-ETS2 region encompassing 16 genes to cognitive disorders.

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Behavioral phenotype of individuals with Down syndrome

Cited by 172 publications

References 0 publications

Functional Analysis of Genes Implicated in Down Syndrome: 1. Cognitive Abilities in Mice Transpolygenic for Down Syndrome Chromosomal Region-1 (DCR-1)

Functional Analysis of Genes Implicated in Down Syndrome: 1. Cognitive Abilities in Mice Transpolygenic for Down Syndrome Chromosomal Region-1 (DCR-1)

Behavioral phenotyping of mouse models of neurodevelopmental disorders: Relevant social behavior patterns across the life span

Mouse Models of Cognitive Disorders in Trisomy 21: A Review

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