| Health Aspects Of Down Syndrome |
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The most common manifestations of Down syndrome are the characteristic facial features, cognitive impairment, Congenital Heart Disease , hearing deficits, Short Stature , and Alzheimer's Disease . Other less common serious illnesses include Leukemia , Immune Deficiencies , and Epilepsy . Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy. INDIVIDUAL SYMPTOMS Endocrinology and hematology Individuals with DS are at increased risk for dysfunction of the , exhibiting defects in Spermatogenesis .Johannisson R, Gropp A, Winking H, Coerdt W, Rehder H, Schwinger E. ''Down's syndrome in the male. Reproductive pathology and meiotic studies.'' Hum Genet. 1983;63(2):132-8. PMID 6220959 Hematologic malignancies such as leukemia are more common in children with DS. In particular, the risk for s contained in the extra genetic material.Hasle H, Clemmensen IH, Mikkelsen M. ''Risks of leukaemia and solid tumours in individuals with Down's syndrome.'' Lancet. 2000 Jan 15;355(9199):165-9. PMID 10675114 Gastrointestinal and growth Down syndrome increases the risk of , Annular Pancreas , and Imperforate Anus . Gastroesophageal Reflux Disease and Celiac Disease are also more common among people with DS.Zachor DA, Mroczek-Musulman E, Brown P. ''Prevalence of celiac disease in Down syndrome in the United States.'' J Pediatr Gastroenterol Nutr. 2000 Sep;31(3):275-9. PMID 10997372 Growth parameters such as height, weight, and head circumference are smaller in children with DS than with individuals of the same age. Adults with DS tend to have Short Stature — the average height for men is 5 feet 1 inch (157 cm) and for women is four feet 9 inches (144 cm).Cronk C, Crocker AC, Pueschel SM, Shea AM, Zackai E, Pickens G, Reed RB.''Growth charts for children with Down syndrome: 1 month to 18 years of age.'' Pediatrics. 1988 Jan;81(1):102-10. PMID 2962062 Individuals with DS are also at increased risk for obesity as they age.Rubin SS, Rimmer JH, Chicoine B, Braddock D, McGuire DE. ''Overweight prevalence in persons with Down syndrome.'' Ment Retard. 1998 Jun;36(3):175-81. PMID 9638037 Neurology The neurologic consequences of DS manifest early in life. Infants with Down Syndrome have a decreased Muscle Tone and are more flexible. Mental retardation becomes apparent as individuals with DS grow and develop — sitting, walking, and talking are typically delayed. Children and adults with DS are at increased risk for developing Epilepsy .Goldberg-Stern H, Strawsburg RH, Patterson B, Hickey F, Bare M, Gadoth N, Degrauw TJ.''Seizure frequency and characteristics in children with Down syndrome.'' Brain Dev. 2001 Oct;23(6):375-8. PMID 11578846Menendez M. ''Down syndrome, Alzheimer's disease and seizures.'' Brain Dev. 2005 Jun;27(4):246-52. Review. PMID 15862185 As adults age, the risk for Alzheimer's disease increases, with more than half of individuals with DS older than 50 developing Alzheimer's disease. Ophthalmology and otolaryngology Eye disorders are more common in people with DS. Almost half have Strabismus , in which the two eyes do not move in tandem. Refractive errors requiring glasses or contacts are also common. Cataract s (opacity of the lens) and Glaucoma (increased eye pressures) are also more common in DS.Caputo AR, Wagner RS, Reynolds DR, Guo SQ, Goel AK. ''Down syndrome. Clinical review of ocular features.'' Clin Pediatr (Phila). 1989 Aug;28(8):355-8. PMID 2527102 ( Otitis Media ) and Obstructive Sleep Apnea are also more common DS.Clarke RW. ''Ear, nose and throat problems in children with Down syndrome. PREVENTION AND SCREENING The American Academy Of Pediatrics , among other health organizations, has issued a series of recommendations for Screening individuals with Down Syndrome for particular diseases.American Academy of Pediatrics Committee on Genetics. (2001) ''Health Supervision for Children With Down Syndrome.—These guidelines enable health care providers to identify and prevent important aspects of DS. All other typical newborn, childhood, and adult screening and vaccination programs should also be performed. Birth Initial examination of newborns with DS should pay particular attention to certain physical signs which are more commonly found in DS. Evaluation of the Red Reflex can help identify congenital Cataract s. Movement of the eyes should be observed to identify Strabismus . Constipation should raise concerns for Hirschsprung's Disease and feeding problems should prompt intense education to ensure adequate input and nutrition. At birth, an ultrasound of the heart ( Echocardiogram ) should be done immediately in order to identify congenital heart disease. A complete blood count should be done in order to identify pre-existing leukemia. A hearing test using Brainsteam Auditory Evoked Responses (BAERS) testing should be performed and any hearing deficits further characterized. The thyroid function should also be tested. Early Childhood Intervention should be involved from birth to help coordinate and plan effective strategies for learning and development. Childhood and adulthood As children with DS grow, their progress should be plotted on a Growth Chart in order to detect deviations from expected growth. Special growth charts are available so that DS children can be compared with other children with DS. Thyroid function testing should be performed at 6 months and 12 months of age as well as yearly thereafter. Evaluation of the ears for infection as well as objective hearing tests should be performed at every visit. Formal evaluation for refractive errors requiring glasses should be performed at least every two years with subjective vision assessments with each visit. After the age of three, an x-ray of the neck should be obtained to screen for atlanto-axial instability. As the child ages, yearly symptom screening for obstructive sleep apnea should be performed. TREATMENT Treatment of individuals with Down Syndrome depends on the particular manifestations of the disease. For instance, individuals with congenital heart disease may need to undergo major corrective surgery soon after birth. Other individuals may have relatively minor health problems requiring no therapy. Plastic surgery Plastic Surgery has sometimes been advocated and performed on children with Down syndrome, based on the assumption that surgery can reduce the facial features associated with Down syndrome, therefore decreasing social stigma, and leading to a better quality of life.1 Plastic surgery on children with Down syndrome is uncommon,2 and continues to be controversial. Researchers have found that for Facial Reconstruction , "...although most patients reported improvements in their child's speech and appearance, independent raters could not readily discern improvement...."3 Also, see 4 For partial glossectomy (tongue reduction), one researcher found that 1 out of 3 patients "achieved oral competence," with 2 out of 3 showing speech improvement.5See also 6 Len Leshin, physician and author of the ds-health website , has stated, "Despite being in use for over twenty years, there is still not a lot of solid evidence in favor of the use of plastic surgery in children with Down syndrome."7 The National Down Syndrome Society has issued a "Position Statement on Cosmetic Surgery for Children with Down Syndrome"8 which states that "The goal of inclusion and acceptance is mutual respect based on who we are as individuals, not how we look." Alternative treatment The Institutes For The Achievement Of Human Potential is a non-profit organization which treats children who have, as the IAHP terms it, "some form of brain injury," including children with Down syndrome. The approach of "Psychomotor Patterning" is not proven,For criticism of the method, see and is considered Alternative Medicine . LIFESPAN |
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