Down syndrome medical therapy: Difference between revisions

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Latest revision as of 15:24, 21 March 2018

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Syed Hassan A. Kazmi BSc, MD [2]

Overview

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.

Medical Therapy

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:^[1]^[2]^[3]^[4]^[5]^[6]^[7]

Breast-feeding

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.

Activity

Before beginning sports activities, the child's neck and hips should be examined.

Behavioral training

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
- Independency
- 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 ECG, echocardiogram	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

References

↑ 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.

Template:WH Template:WS

[pmid15740947-1] 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.

[pmid22832871-2] 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.

[pmid20632187-3] 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.

[pmid22791400-4] 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.

[pmid21788214-5] Bull MJ (August 2011). "Health supervision for children with Down syndrome". Pediatrics. 128 (2): 393–406. doi:10.1542/peds.2011-1605. PMID 21788214.

[HankinsonAnderson2010-6] 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.

[pmid21618060-7] 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.

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@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Down syndrome}}
-{{CMG}}
+{{CMG}}; {{AE}}{{HK}}
 == Overview ==
-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.
+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 (person)|hearing evaluation]], [[ophthalmologic]] evaluation, [[thyroid]] profile, [[cardiac]] evaluation, [[dental]] care and close monitoring of [[Complete blood count|complete blood counts]] in order to identify [[Hematological malignancy|hematological maliganancies]] should be a part of care for a Down syndrome patient.
 == Medical Therapy ==
-There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery. 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. Before beginning sports activities, the child's neck and hips should be examined. 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.
+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:<ref name="pmid15740947">{{cite journal |vauthors=Masuda M, Kado H, Tanoue Y, Fukae K, Onzuka T, Shiokawa Y, Shirota T, Yasui H |title=Does Down syndrome affect the long-term results of complete atrioventricular septal defect when the defect is repaired during the first year of life? |journal=Eur J Cardiothorac Surg |volume=27 |issue=3 |pages=405–9 |date=March 2005 |pmid=15740947 |doi=10.1016/j.ejcts.2004.11.027 |url=}}</ref><ref name="pmid22832871">{{cite journal |vauthors=Nahar R, Kotecha U, Puri RD, Pandey RM, Verma IC |title=Survival analysis of Down syndrome cohort in a tertiary health care center in India |journal=Indian J Pediatr |volume=80 |issue=2 |pages=118–23 |date=February 2013 |pmid=22832871 |doi=10.1007/s12098-012-0836-3 |url=}}</ref><ref name="pmid20632187">{{cite journal |vauthors=Weijerman ME, de Winter JP |title=Clinical practice. The care of children with Down syndrome |journal=Eur. J. Pediatr. |volume=169 |issue=12 |pages=1445–52 |date=December 2010 |pmid=20632187 |pmc=2962780 |doi=10.1007/s00431-010-1253-0 |url=}}</ref><ref name="pmid22791400">{{cite journal |vauthors=Bhat AS, Chaturvedi MK, Saini S, Bhatnagar S, Gupta N, Sapra S, Gupta SD, Kabra M |title=Prevalence of celiac disease in Indian children with Down syndrome and its clinical and laboratory predictors |journal=Indian J Pediatr |volume=80 |issue=2 |pages=114–7 |date=February 2013 |pmid=22791400 |doi=10.1007/s12098-012-0838-1 |url=}}</ref><ref name="pmid21788214">{{cite journal |vauthors=Bull MJ |title=Health supervision for children with Down syndrome |journal=Pediatrics |volume=128 |issue=2 |pages=393–406 |date=August 2011 |pmid=21788214 |doi=10.1542/peds.2011-1605 |url=}}</ref><ref name="HankinsonAnderson2010">{{cite journal|last1=Hankinson|first1=Todd C.|last2=Anderson|first2=Richard C.E.|title=Craniovertebral Junction Abnormalities in Down Syndrome|journal=Neurosurgery|volume=66|issue=suppl_3|year=2010|pages=A32–A38|issn=0148-396X|doi=10.1227/01.NEU.0000365803.22786.F0}}</ref><ref name="pmid21618060">{{cite journal |vauthors=Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, Masser-Frye D, Brookshire GS, Carre AM, Lagrave D, Brasington CK |title=Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors |journal=J Genet Couns |volume=20 |issue=5 |pages=432–41 |date=October 2011 |pmid=21618060 |doi=10.1007/s10897-011-9375-8 |url=}}</ref>
-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
-*Learn to advocate for themselves in difficult situations
-*Be in a safe environment
-If the person has any heart defects or problems, check with the physician about the need for antibiotics to prevent heart infections called endocarditis.
-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. Special educators are also often needed.
+=== Breast-feeding ===
+* 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-feeding|breast-feed]]. [[Obesity]] can become a problem for older [[children]] and [[Adult|adults]]. Getting plenty of activity and avoiding high-[[calorie]] foods are important.
+=== Activity ===
+* Before beginning sports activities, the child's [[neck]] and [[hips]] should be examined.
+=== Behavioral training ===
+* 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
+**Independency
+**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 care|Parental]] [[genetic counseling]] and [[prenatal]] [[diagnosis]]
+=== Management of complications of Down syndrome ===
+{| class="wikitable"
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Parameter'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Diagnostic tool'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''0 to 3 months'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''3 month to 1 year'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''1 year to 5 years'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''5 years to 12 years'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Management'''
+|-
+|'''Growth'''
+|[[Anthropometry]]
+|At least twice in first year
+| colspan="3" |Annually
+|Ensure optimal diet and physical exercise
+|-
+|'''Hearing evaluation for deafness, serous otitis media'''
+|[[Tympanometry]]
+|At least twice in first year
+| colspan="3" |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|thyroid stimulating hormone]] levels ([[TSH]])
+|At least twice in first year
+| colspan="3" |Annually
+|[[Thyroxine]] and follow up as indicated
+|-
+|'''Cardiac evaluation'''
+|Clinical assessment
+[[ECG]], [[echocardiogram]]
+| colspan="4" |At initial contact and follow up in the presence of congenital heart disease
+|Follow up visits with [[pediatric]] [[Cardiologist|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
+| colspan="3" |Monitor [[hemoglobin]] as per need in the presence of [[iron deficiency anemia]]
+|Standard treatment for [[leukemia]] and [[anemia]]
+|-
+|'''Dental care'''
+|[[Dentist]] evaluation
+|
+| colspan="3" |Annually
+|[[Dental]] fillings, [[root canal]] treatments, maintain [[dental hygiene]]
+|}
 ==References==