Down syndrome medical therapy
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. ; Associate Editor(s)-in-Chief: Syed Hassan A. Kazmi BSc, MD 
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. Patients suffering from Down syndrome require rigorous follow-up in order to prevent the complications associated with the syndrome. Close monitoring of growth, hearing evaluation, ophthalmologic evaluation, thyroid profile, cardiac evaluation, dental care and close monitoring of complete blood counts in order to identify hematological maliganancies should be a part of care for a Down syndrome patient.
There is no specific treatment for Down syndrome. Patients suffering from Down syndrome require rigorous follow-up in order to prevent the complications associated with the syndrome. The following are the essential components of care of a Down syndrome patient:
- When breast-feeding, the baby should be well supported and fully awake. The baby may have some leakage because of poor tongue control. However, many infants with Down syndrome can successfully breast-feed. Obesity can become a problem for older children and adults. Getting plenty of activity and avoiding high-calorie foods are important.
- Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur.
- Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence.
- Adolescent females and women with Down syndrome are usually able to get pregnant.
- There is an increased risk of sexual abuse and other types of abuse in both males and females. It is important for those with Down syndrome to:
- Be taught about pregnancy and taking the proper precautions
- Be in a safe environment
Speech, physical and occupational therapy
- Special education and training is offered in most communities for children with delays in mental development.
- Speech therapy may help improve language skills. Physical therapy may teach movement skills.
- Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behavior problems. Specialized educators should be part of the team taking care of a patient suffering from Down syndrome.
Essential components of care
- Physicians should be vigilant about the potential symptoms of gastroesophageal reflux disease (heartburn, decreased food intake), celiac disease (fatty stools, bloating, abdominal pain, eczema herpeticum), obstructive sleep apnea (snoring, excessive daytime sleepiness), atlantoaxial dislocation
- Immunizations should follow schedule. Pneumococcal vaccine (23 valent) after 2 years of age for chronic cardiac or pulmonary complications
- Early intervention: physical, occupational, and speech therapy
- Chromosomal studies in all
- Vocational training, hygiene and self-care, group homes
- Encourage discussion about behavioral issues
- Discuss about puberty, and gynaecologic care
- During adolescence and adulthood- sexual education, and counseling regarding interpersonal relationships, risk of sexual abuse, contraception and sexually transmitted diseases
- Parental genetic counseling and prenatal diagnosis
Management of complications of Down syndrome
|Parameter||Diagnostic tool||0 to 3 months||3 month to 1 year||1 year to 5 years||5 years to 12 years||Management|
|Growth||Anthropometry||At least twice in first year||Annually||Ensure optimal diet and physical exercise|
|Hearing evaluation for deafness, serous otitis media||Tympanometry||At least twice in first year||Annually||Standard treatment and follow up as indicated|
|Ophtalmologic examination||Standard evaluation by an ophthalmologist/optometrist||At least twice in first year||Annually||Every 2 y||Every 3 y||Standard treatment and follow up as indicated|
|Thyroid function tests||Thyroxine (T4) and thyroid stimulating hormone levels (TSH)||At least twice in first year||Annually||Thyroxine and follow up as indicated|
|Cardiac evaluation||Clinical assessment||At initial contact and follow up in the presence of congenital heart disease||Follow up visits with pediatric cardiologists, as per need standard care|
|Hematological problems for leukemia and iron deficiency anemia||Check for symptoms and complete blood count||At least twice in first year||Monitor hemoglobin as per need in the presence of iron deficiency anemia||Standard treatment for leukemia and anemia|
|Dental care||Dentist evaluation||Annually||Dental fillings, root canal treatments, maintain dental hygiene|
- ↑ Masuda M, Kado H, Tanoue Y, Fukae K, Onzuka T, Shiokawa Y, Shirota T, Yasui H (March 2005). "Does Down syndrome affect the long-term results of complete atrioventricular septal defect when the defect is repaired during the first year of life?". Eur J Cardiothorac Surg. 27 (3): 405–9. doi:10.1016/j.ejcts.2004.11.027. PMID 15740947.
- ↑ Nahar R, Kotecha U, Puri RD, Pandey RM, Verma IC (February 2013). "Survival analysis of Down syndrome cohort in a tertiary health care center in India". Indian J Pediatr. 80 (2): 118–23. doi:10.1007/s12098-012-0836-3. PMID 22832871.
- ↑ Weijerman ME, de Winter JP (December 2010). "Clinical practice. The care of children with Down syndrome". Eur. J. Pediatr. 169 (12): 1445–52. doi:10.1007/s00431-010-1253-0. PMC 2962780. PMID 20632187.
- ↑ Bhat AS, Chaturvedi MK, Saini S, Bhatnagar S, Gupta N, Sapra S, Gupta SD, Kabra M (February 2013). "Prevalence of celiac disease in Indian children with Down syndrome and its clinical and laboratory predictors". Indian J Pediatr. 80 (2): 114–7. doi:10.1007/s12098-012-0838-1. PMID 22791400.
- ↑ Bull MJ (August 2011). "Health supervision for children with Down syndrome". Pediatrics. 128 (2): 393–406. doi:10.1542/peds.2011-1605. PMID 21788214.
- ↑ Hankinson, Todd C.; Anderson, Richard C.E. (2010). "Craniovertebral Junction Abnormalities in Down Syndrome". Neurosurgery. 66 (suppl_3): A32–A38. doi:10.1227/01.NEU.0000365803.22786.F0. ISSN 0148-396X.
- ↑ Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, Masser-Frye D, Brookshire GS, Carre AM, Lagrave D, Brasington CK (October 2011). "Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors". J Genet Couns. 20 (5): 432–41. doi:10.1007/s10897-011-9375-8. PMID 21618060.