Objectives: To determine whether an altered hypothalamic-pituitary-thyroid axis is inherent to Down's syndrome or if a high level of thyroid-stimulating hormone (TSH) is a feature in a subset of patients with Down's syndrome.
Design: Comparative analysis.
Setting: Major health maintenance organisation (3.8 million insured).
Patients: A data warehouse search identified all subjects with Down's syndrome who attended Clalit Health Services in 2006 and were tested for TSH and free thyroxine (T4) level on the day of diagnosis (intention-to-treat population). The study group consisted of patients who were not diagnosed with thyroid disease or did not receive thyroid-modulating medication (n=428). Their findings were compared with a control group of healthy age- and sex-matched subjects who were randomly selected from the general population.
Main Outcome Measures: Distribution of free T4, TSH and total T3 levels.
Results: The distribution plot for TSH showed a significant shift of the curve to higher values in the study group compared with the controls (p≤0.0001). This finding held true on further analysis of the whole intention-to-treat population (p<0.006). The free T4 distribution curve also shifted significantly to higher levels in patients with Down's syndrome (p≤0.0001).
Conclusions: Down's syndrome is associated with higher TSH levels. The results suggest that hyperthyrotropinaemia is an innate attribute of chromosome 21 trisomy. Therefore, T4 treatment should not be contemplated in Down's Syndrome unless the TSH is >95th centile in the presence of normal-range free T4 levels.
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http://dx.doi.org/10.1136/archdischild-2011-300806 | DOI Listing |
Narra J
December 2024
Department of Community Medicine and Public Health, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Sarawak, Malaysia.
Down syndrome is the most prevalent genetic condition contributing to intellectual disability. Advancements in medical care have significantly increased the life expectancy of people with this condition, making employment a vital component for independent living and quality of life. The aim of this study was to examine the current literature on the employability and employment experiences of individuals with Down syndrome, focusing on the evolution of the employment rate and factors influencing employment such as cognitive and personal factors, societal attitudes, challenges, and effective support systems.
View Article and Find Full Text PDFJ Intellect Dev Disabil
September 2024
Department of Special Education, University of Fribourg, Fribourg, Switzerland.
Background: Individuals with Down syndrome are an at-risk population for severe COVID-19 outcomes, due to genetic predispositions and comorbidities. The current study focused on differences between persons with and without Down syndrome regarding age and severity of disease.
Method: We used medical statistics to compare patients with and without Down syndrome who were admitted to Swiss hospitals (2020 and 2022) with a COVID-19 diagnosis.
J Intellect Dev Disabil
December 2024
Department of Neurology, University Hospital, LMU Munich, Germany.
Background: The CAMDEX-DS is an instrument to diagnose Alzheimer's disease (AD) in Down syndrome consisting of an informant interview and a cognitive test battery (CAMCOG-DS). Measurement properties of the German CAMDEX-DS were investigated.
Method: Fifty-five adults with Down syndrome (19-58 years) participated in this observational study.
J Intellect Dev Disabil
March 2024
Department of Psychology and Human Development, IOE UCL's Faculty of Education and Society, London, UK.
The home literacy environment (HLE) has rarely been examined for individuals with neurodevelopmental disorders, including individuals with Williams syndrome and Down syndrome. The current study surveyed carers of individuals with Down syndrome (n = 48) and Williams syndrome (n = 18) in the United Kingdom (UK). The study reports that individuals with Down syndrome were rated higher in general reading skills and writing, while the Williams syndrome group scored higher for speaking.
View Article and Find Full Text PDFJ Intellect Dev Disabil
March 2024
Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia.
Background: Siblings of children with intellectual disability have unique family experiences, varying by type of disability.
Methods: Parents of children with Down syndrome (156) or with Rett syndrome (149) completed questionnaires relating to sibling advantages and disadvantages, experiences of holidays and recreation, and perceived availability of parental time. Qualitative responses were analysed using thematic analysis.
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