Down's syndrome and thyroid disorder

Dinani, S.; Carpenter, Susan

doi:10.1111/j.1365-2788.1990.tb01528.x

Cited by 37 publications

(23 citation statements)

References 9 publications

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“…Approximately 35-40% of adults with DS are reported to have abnormal thyroid function, although only 7-8% had active hypothyroidism (Dinani & Carpenter, 1990; Prasher, 1994a; Prasher, 1994b). Also comparable to seizure findings, the rate of thyroid disease in adults with DS is greater than that found in the general population (Coleman, 1994).…”

Section: Thyroid Dysfunctionmentioning

confidence: 99%

Health Conditions Associated with Aging and End of Life of Adults with Down Syndrome

Esbensen

2010

International Review of Research in Mental Retardation

149

113

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Expectations for the life course of individuals with Down syndrome (DS) have changed, with life expectancy estimates increasing from 12 in 1949 to nearly 60 years of age today (Bittles & Glasson, 2004;Penrose, 1949). Along with this longer life expectancy comes a larger population of adults with DS who display premature age-related changes in their health. There is thus a need to provide specialized health care to this aging population of adults with DS who are at high risk for some conditions and at lower risk for others. This review focuses on the rates and contributing factors to medical conditions that are common in adults with DS or that show changes with age. The review of medical conditions includes the increased risk for skin and hair changes, early onset menopause, visual and hearing impairments, adult onset seizure disorder, thyroid dysfunction, diabetes, obesity, sleep apnea and musculoskeletal problems. The different pattern of conditions associated with the mortality of adults with DS is also reviewed. KeywordsDown syndrome; physical health; aging; mortality A highly significant change in the survival of people with Down syndrome (DS) has occurred during the last two generations. In the 1940s, the average life expectancy for individuals with DS was 12 years (Penrose, 1949). With medical breakthroughs and improvements in services, individuals with DS now enjoy life expectancies into their 60s (Bittles & Glasson, 2004). As a result, we are now witness to the first generation of individuals with DS who have benefited from a revolution during their lifetime of better knowledge, health care, advocacy and services (Yang, Rasmussen & Friedman, 2002). Along with this longer life expectancy comes a larger population of adults with DS who display premature age-related changes in their health. There is thus a need to provide specialized health care to this aging population of adults with DS who are at high risk for some conditions and at lower risk for others. Adults with DS are at age-related increased risk for dementia, skin and hair changes, early onset menopause, visual and hearing impairments, adult onset seizure disorder, thyroid dysfunction, diabetes, obesity, sleep apnea and musculoskeletal problems. Along with these increased risks for some conditions comes a different pattern of conditions associated with the mortality of adults with DS. This review focuses on the rates and contributing factors to medical conditions that are common in adults with DS or that show changes with age. Skin and hair changesAdults with DS experience a number of dermatological and autoimmune symptoms characteristic of accelerated aging, including premature graying of the hair, hair loss and wrinkling of the skin (Lott, 1982). Significant differences in the skin and chronological age of the individual have been found in post-mortem examinations of the skin of adults with DS NIH Public Access

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Section: Thyroid Dysfunctionmentioning

confidence: 99%

Health Conditions Associated with Aging and End of Life of Adults with Down Syndrome

Esbensen

2010

International Review of Research in Mental Retardation

149

113

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“…In fact, our only patient with decreased T4 did not present any suggestive symptoms of hypothyroidism. In addition, symptoms of hypothyroidism are very nonspecific because they overlap with those inherent to DS (22). For this reason, regardless of the high rate of spontaneous resolution and the uncertainty about real clinical impact, we consider that annual capillary TSH screening is a reasonable and feasible practice in these children (23).…”

Section: Hypothyroidism In Down Syndromementioning

confidence: 99%

Subclinical hypothyroidism in the first years of life in patients with Down syndrome

et al. 2013

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Background: subclinical hypothyroidism (sh), defined as mild thyroid-stimulating hormone (Tsh) elevation with normal free thyroxine (FT4) levels and no symptoms, is common during the first few years of life in Down syndrome (Ds) and can be self-limiting. Our objective was to confirm that sh is usually a transitory disorder and to identify the factors associated with spontaneous remission. Methods: We reviewed clinical histories of patients from the catalan Down syndrome Foundation (cDsF) with Ds and sh diagnosed before 5 y of age. sh was defined as Tsh 5.5-25 µU/ml (6 mo-4 y) or 4.13-25 µU/ml (4-7 y), with FT4 0.89-1.87 ng/dl (6 mo-4 y) or 0.96-1.86 ng/dl (4-7 y). results: Fifty-three patients with sh were identified, with an average age of 2.4 ± 1.1 y, median (range) Tsh at diagnosis 7.1 (4.2-23.9 µU/ml), and median (range) FT4 1.1 (0.9-1.7 ng/dl). sh resolved spontaneously in 39 cases (73.6%), with Tsh at the most recent visit (mean age 6.7 ± 1.4 y) 3.9 (1.8-12.7 µU/ml). The rate of remission was significantly higher in patients without goiter (94.9 vs. 28.6%) and in those who were negative for antithyroid antibodies (89.7 vs. 42.9%). conclusion: sh in infants and preschool children with Ds is usually a transitory disorder, with remission in >70% of cases. The absence of goiter and thyroid autoantibodies was associated with a greater rate of spontaneous remission in our study. t he prevalence of medical conditions in individuals withDown syndrome (DS) is greater than in the general population, which has negative implications for their quality of life and life expectancy (1). Among these medical problems, thyroid pathology is a primary area of concern. Both hyper-and hypothyroidism occur more often in patients with DS (1-3), the latter disorder occurring six times more frequently than the former (4,5).In addition to the increased risk of developing autoimmune hypothyroidism with age (2,6), children with DS have a higher chance of displaying a mild, isolated increase in thyroid-stimulating hormone (TSH) in the absence of low free thyroxine (FT4) or overt hypothyroid symptoms (7,8). This phenomenon, of uncertain etiology, can be referred to as subclinical hypothyroidism (SH) and seems usually to be transitory and self-limiting without treatment (9,10). However, there are few systematic studies on SH, and the factors related to its remission are unclear. The possibility that thyroxine replacement may have a beneficial effect on the somatic and psychomotor development of patients with DS and SH has been raised (11). In this context, the results of a randomized, double-blind clinical trial with 196 DS children are important with respect to previous studies. On the basis of the theory that all DS subjects have slight hypothyroidism at birth (12,13), this study evaluated the effect of systematic treatment with levothyroxine initiated in the neonatal period and continued during the first 2 y of life, as compared with that of placebo. Treatment with levothyroxine resulted in a subtle improvement in psychomotor developme...

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“…36,51 Age-related disorders begin earlier than in the general population, and by adulthood about 40% of individuals have developed a thyroid disorder. 52 After 30 years of age adult-onset epilepsy becomes common and may affect approximately half of all persons with Down syndrome over 50 years of age. 49,50,53 Sensory losses are detected in 40 to 80% of individuals, usually related to hearing loss and cataracts, and hip disease can develop in about 28%.…”

Section: Comorbid Disorders and Ageingmentioning

confidence: 99%

Clinical, social, and ethical implications of changing life expectancy in Down syndrome

Bittles

Glasson

2004

Develop Med Child Neuro

321

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Between 1 and 4% of the populations of developed nations are diagnosed with learning disability*. 1,2 In Australia, an estimated 1.9% of the population exhibit learning disability either as a primary disability or as a secondary condition, and approximately half of these people require continuing support in daily living, including mobility, self-care, and socialization. 3 After improvements in basic public health measures, life expectancy in most developed nations increased over the course of the 20th century, and this trend included people with learning disability. Thus, by the end of that century, the survival estimates for people with mild learning disability living in developed countries was 70 years, and nearly 60 years of age for those with severe learning disability. 4,5 The estimates of increased life expectancy mirror improved access to medical treatment for those with learning disability, and a shift in public attitude during the past 20 to 30 years that has resulted in better care within the community. The increased availability of more appropriate medication, surgical intervention, and overall health care management strategies have led to a positive effect on general health and have decreased mortality. More recently, national and international agencies have strongly argued for further improvements in health care opportunities for individuals with disabilities, and for the narrowing of health differentials between people with learning disability and the general population. 6-9 However, this is a complex issue with challenging social, economic, and ethical ramifications, because many people with learning disability are affected by major adverse health issues throughout their lives. As a result, increased survival is not only associated with a longer period of care, but is also related to a longer period of more specialized needs. Here we discuss these issues with specific reference to the circumstances of people with Down syndrome, although it should be emphasized that to a large degree they equally apply to a wide range of inherited disorders resulting in learning disability. EpidemiologyDown syndrome is the most commonly inherited form of learning disability, with an incidence rate of 1 out of every 650 to 1000 live births, 10-12 and in developed countries it accounts for 12 to 15% of the population of those with learning disability. 4,13,14 The actual number of Down syndrome conceptions is unknown, but occurrence of the disorder increases significantly with advancing maternal age, 15 and there is some evidence that advanced paternal age might also be involved. 16 There is a high rate of spontaneous prenatal loss and, for example, in one study 43% of Down syndrome pregnancies detected by chorionic villus sampling at 10 weeks gestation failed to reach term. 17 The trisomy 21 karyotype is present in 93 to 95% of people with Down syndrome; a further 3 to 4% exhibit translocation anomalies, and 1 to 3% are mosaic. 18-20 Down syndrome is usually associated with moderate to severe levels of learning disab...

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Down's syndrome and thyroid disorder

Cited by 37 publications

References 9 publications

Health Conditions Associated with Aging and End of Life of Adults with Down Syndrome

Health Conditions Associated with Aging and End of Life of Adults with Down Syndrome

Subclinical hypothyroidism in the first years of life in patients with Down syndrome

Clinical, social, and ethical implications of changing life expectancy in Down syndrome

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