Screening of medical problems in adults with Down syndrome

Prasher, V. P.

doi:10.3104/reports.31

Cited by 35 publications

(32 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…25,26 The underlying genetic disease seems to set a pattern of congenital heart defects, 25 which are responsible for a large percentage of the main causes of death in adults with DS and heart failure. 2,27 As expected, hypothyroidism was a frequent comorbidity in our sample. Several previous studies have reported thyroid dysfunction in DS individuals, especially hypothyroidism.…”

supporting

confidence: 82%

“…In clinical practice, regular age and gender appropriate screening by primary care physicians and specialists is needed in order to identify DS specific comorbidities, aiming at a personalized medicine and the search for the best practices. 26,27,37 This implies that health care professionals are prepared to diagnose, treat and manage these medical conditions. 37 Dealing with people with ID and their families in an effective manner requires both knowledge and empathy.…”

Section: Discussionmentioning

confidence: 99%

“…14,17,28 Other studies have described additional medical issues in DS adults, including skin and hair diseases, early-onset menopause, visual and hearing impairments, pulmonary disease, obstructive sleep apnoea, musculoskeletal disease, type 1 diabetes mellitus, overweight and obesity, gastroesophageal reflux disease, celiac disease and an age-related increased risk for dementia. 14,17,[25][26][27]29,30 The likelihood of epilepsy and seizures increases with age, especially if there is comorbid dementia, but is also related to the age of onset of the disease. 29 In some studies, older adults with DS were found to have a higher incidence of respiratory disease and congenital anomalies, 29 dementia, hypothyroidism, skin problems, 17 cardiac disease, neurologic disease as well as shorter height and stature.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Adults with Down Syndrome: Characterization of a Portuguese Sample

et al. 2014

View full text Add to dashboard Cite

supporting

confidence: 82%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Adults with Down Syndrome: Characterization of a Portuguese Sample

et al. 2014

View full text Add to dashboard Cite

“…6 Prasher et al found macrocytosis to be the most common disorder in 147 adult patients. 7 In present study, two patients with macrocytosis had low levels of vitamin B12. Since vitamin B12 and folic acid levels were not examined in all cases with macrocytosis in present study, a correlation could not be established between macrocytosis, and vitamin B12 and folic acid in DS patients.…”

Section: Discussionsupporting

confidence: 45%

Evaluation of hematological findings in children with Down syndrome

Sarbay¹

2018

Int J Contemp Pediatr

View full text Add to dashboard Cite

Background: Various hematological disorders and malignancies may be encountered with Down syndrome. In this article, hematological findings of children with Down syndrome were investigated. Methods: The hematological results of 106 Down syndrome children aged 3 months to 17 years were assessed retrospectively. The results were compared with a patient group consisting of non-DS and healthy children with a similar age range. Results: When compared with the control group, a significant difference was found between the frequencies of neutropenia, monocytosis, macrocytosis and anisocytosis. No significant difference was detected between the patients with macrocytosis and those without macrocytosis when the relation of macrocytosis with other hematological disorders was examined. On the other hand, the comparison between the groups with and without macrocytosis showed that the prevalence of acute leukemia was significantly higher in patients with Down syndrome. Conclusions: DS children with macrocytosis should be more closely monitored for myelodysplastic syndrome and acute leukemia.

show abstract

“…Its incidence is approximately 1:660 live births 1 , and it is the most common genetic cause of mental disability. 2,3 DS phenotype is complex and varies among individuals, who may present a combination of dysmorphic features, [4][5][6] congenital heart disease, 7,8,9 neurological abnormalities, such as early manifestation of Alzheimer's disease, 10 immunological deficiency, 11 and elevated risk of specific types of leukemia, 12 among other clinical complications. [13][14][15] .…”

mentioning

confidence: 99%

Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil

Bertelli¹,

Biselli²,

Bonfim³

et al. 2009

Rev. Assoc. Med. Bras.

View full text Add to dashboard Cite

erika@famerp.br SUMMARY Objective. Considering that studies about the frequencies of phenotypic features of Down syndrome (DS) in the Brazilian population with large ethnic variability are scarce in literature, this study analyzed clinical and demographic characteristics of DS children from the Southeastern region of Brazil. MethOds. Sixty-two DS children with free trisomy 21 were evaluated by physical examination using reference values that considered the children´s gender and age at their presentation. Data about clinical complications were collected by retrospective analysis of the children's medical records and/ or information supplied by their mothers. Statistical analysis was performed using Likelihood Ratio Test, with significance level less or equal to 5%. Results. Clinical features observed in more than 90% of the individuals were flat facial profile, brachycephaly, slanted palpebral fissures, hypotonia at birth and flat nasal bridge. Congenital heart disease was present in 56.5% of the cases, verbal language acquisition disorder in 87%, and global delayed development in 77.8%. cOnclusiOn. The comparison between our data and related literature showed a great variability of the phenotype features frequencies of DS among studies. Besides environmental factors, this can reflect individual as well as population characteristics.

show abstract

Screening of medical problems in adults with Down syndrome

Cited by 35 publications

References 23 publications

Adults with Down Syndrome: Characterization of a Portuguese Sample

Adults with Down Syndrome: Characterization of a Portuguese Sample

Evaluation of hematological findings in children with Down syndrome

Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil

Contact Info

Product

Resources

About