Down syndrome

Abstract

Down syndrome is the most common chromosome abnormality of man. The isolated occurrence of any one of the most of the protean systemic and ocular features of Down syndrome is not specific to the disorder. The associated occurrence of several of these features, however, has distinguished affected individuals as having a distinct entity for nearly 125 years. Recent advances in prenatal diagnosis have allowed the earlier detection, in utero, of chromosomal abnormalities. Although predisposing genetic and environmental influences remain for the most part unknown, advances in molecular biology are leading to a greater understanding of other common disorders that occur with an increased incidence in individuals with Down syndrome; these include Alzheimer's disease, acute childhood leukemia, congenital heart malformations, and immunologic abnormalities. Associated ocular disorders can significantly affect the quality of life of individuals with Down syndrome. As more children with Down syndrome live into adulthood, the ophthalmologist will play an increasing role in allowing them to lead productive and meaningful lives.

Screening for Fragile X Syndrome: Information Needs for Health Planners

“…In some assays the inactivated X chromosome will react differently from the other. 9.2 SOUTHERN BLOTrING OF GENOMIC DNA Both the PM and FM can be detected in males and females by directly assessing the size of restriction enzyme generated DNA fragments encompassing the repeat sequence. Deletions in the FMR-1 gene can also be identified.…”

Vision and oral health needs of individuals with intellectual disability

“…Several researchers have noted that individuals with Down syndrome are at a particular risk for visual anomalies as they age [Aitchison et al, 1990;Catalano, 1990;Prasher, 1994;Turner and Moss, 1996]. Among older adults, vision problems tend to occur at an earlier age among individuals with Down syndrome than in the general population [Flax and Luchterhand, 2005].…”

“…(Table 1) [Maino et al, 1990;Pueschel, 1995;Saenz, 1999;Smith, 2001]. The prevalence of strabismus has been reported to range from 9 to 69% among individuals with Down syndrome, compared with Ͻ1 to 10% in the general population and 4 to 45% in the overall population of individuals with ID [Cullen and Butler, 1963;Lyle et al, 1972;Markovits, 1975;Jaeger, 1980;Woodruff et al, 1980;NCHS, 1983;Levy, 1984;Shapiro and France, 1985;Jacobson, 1988;Caputo et al, 1989;Aitchison et al, 1990;Catalano, 1990;Cooley and Graham, 1991;Hestnes et al, 1991;Sacks et al, 1991;Pérez-Carpinell et al, 1994;Prasher, 1994;Roizen et al, 1994;Berk et al, 1996;da Cunha and Moreira, 1996;Maino et al, 1996;McCulloch et al, 1996;Block et al, 1997;Woodhouse et al, 1997van Allen et al, 1999;Buch et al, 2001;Merrick and Koslowe, 2001;Cregg et al, 2003;van Splunder et al, 2003bvan Splunder et al, , 2004Gormezano and Kaminski, 2005;Murphy et al, 2005]. In addition, the prevalence of cataracts, which tends to increase with age in the general population, increases to a greater extent with age for individuals with Down syndrome …”

“…Prevalence estimates of cataracts among individuals with Down syndrome has been found to range from 5 to 85% compared with 1 to 58% in the general population and 3 to 69% in the overall population of individuals with ID [Cullen and Butler, 1963;Lyle et al, 1972;Jaeger, 1980;NCHS, 1983;Levy, 1984;Shapiro and France, 1985;Jacobson, 1988;Caputo et al, 1989;Aitchison et al, 1990;Catalano, 1990;Cooley and Graham, 1991;Hestnes et al, 1991;Sacks et al, 1991;Pérez-Carpinell et al, 1994;Prasher, 1994;Roizen et al, 1994;Evenhuis, 1995;Berk et al, 1996;da Cunha and Moreira, 1996;McCulloch et al, 1996;van Allen et al, 1999;Merrick and Koslowe, 2001;Warburg, 2001b;Friedman et al, 2002;Congdon et al, 2003;Kerr et al, 2003;Kleinstein et al, 2003;The Eye Diseases, 2004b;van Splunder et al, 2004;Gormezano and Kaminski, 2005;Murphy et al, 2005]. Likewise, the prevalence of keratoconus has been reported to be between 3 and 30% among individuals with Down syndrome compared with Ͻ1% in the general population and 1 to 19% in the overall population of individuals with ID [Cullen and Butler, 1963;Lyle et al, 1972;Jaeger, 1980;Levy, 1984;Shapiro and France, 1985;…”

Síndrome de Down e alterações de vias lacrimais

“…Existem poucos trabalhos a respeito do comprometimento da via lacrimal em pacientes com síndrome de Down. Catalano, em 1990, refere em seu trabalho que a obstrução do ducto nasolacrimal é um achado raro e provavelmente não relacionado à síndrome (9) , enquanto Cunha et al, em 1986, relata uma prevalência de 30% (2) . Mais recentemente, em 2000, Lueder refere obstrução do ducto nasolacrimal como uma ocorrência freqüente nos pacientes com trissomia 21 (10) .…”