elastin and Down-Syndrome

elastin has been researched along with Down-Syndrome* in 3 studies

Other Studies

3 other study(ies) available for elastin and Down-Syndrome

ArticleYear
Elastosis perforans serpiginosa in a patient with trisomy 21.
    Dermatology online journal, 2006, Sep-08, Volume: 12, Issue:5

    A 12-year-old girl with trisomy 21 (Downs syndrome) presented with an approximate 2-year history of an asymptomatic eruption on the right upper arm and left lateral neck that was clinically and histologically diagnostic of elastosis perforans serpiginosa (EPS). EPS is a perforating dermatosis affecting the face, ear, neck, extremities, or trunk. It occurs with greater frequency in persons with trisomy 21, as well as some other genetic syndromes and after D-penicillamine therapy. It has also been reported as a sporadic, presumably unrelated disorder in several acquired diseases.

    Topics: Child; Connective Tissue Diseases; Down Syndrome; Elastic Tissue; Elastin; Female; Humans; Skin Diseases

2006
"Everybody in the world is my friend" hypersociability in young children with Williams syndrome.
    American journal of medical genetics. Part A, 2004, Jan-30, Volume: 124A, Issue:3

    Williams syndrome (WS) is a rare genetic disorder involving a characteristic cardiac defect, typical facial appearance, and an uneven profile of cognitive strengths and weaknesses. WS is caused by a hemizygous deletion in chromosome band 7q11.23, including the gene for elastin (ELN). Typically, individuals with WS seem driven to greet and interact with strangers. The goal of the present study was to investigate age-related changes in the expression of hypersociability in WS. Parents of 64 children with WS, 31 children with Down syndrome (DS), and 27 normal controls (NC) provided data concerning specific aspects of their children's social behavior using the Salk Institute Sociability Questionnaire (SISQ). Children ranged in age from 1 year, 1 month to 12 years, 10 months. Consistent with earlier findings, whole group analyses showed the WS group to be significantly higher on all aspects of sociability studied. Comparisons among the groups at different ages revealed that hypersociability is evident even among very young children with WS, and, significantly, children with WS exceed children with DS with respect to Global Sociability and Approach Strangers in every age group. The findings from children who have the typical deletion for WS are contrasted with data obtained from a young child with WS who has a smaller deletion and many physical features of WS, but who does not demonstrate hypersociability, providing intriguing clues to a genetic basis of social behavior in this syndrome. These data suggest the involvement of a genetic predisposition in the expression of hypersociability in WS.

    Topics: Age Factors; Analysis of Variance; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 7; Down Syndrome; Elastin; Family Health; Female; Genotype; Humans; Infant; Male; Social Behavior; Surveys and Questionnaires; Williams Syndrome

2004
Williams syndrome and the brain.
    Scientific American, 1997, Volume: 277, Issue:6

    Topics: Adolescent; Brain; Cardiovascular Diseases; Cerebellum; Cerebral Cortex; Chromosomes, Human, Pair 7; Cognition; Down Syndrome; Elastin; Gene Deletion; Humans; Intellectual Disability; Intelligence; Language; Magnetic Resonance Imaging; Music; Williams Syndrome

1997