Health Care Guidelines for Individuals
with Down
Syndrome: 2011
Summarized from Pediatrics,
Volume 128,
Number 2, Aug. 2011
I have marked recent changes and controversies in blue.
Prenatally
The AAP stresses that when parents are given a prenatal diagnosis of Down syndrome, they should be given complete and up-to-date information regarding Down syndrome. This includes giving the parents contact information with local and national DS organizations. The pediatrician should be in contact with the obstetrician as the pregnancy progresses to determine if any subspecialty care will be needed at the time of delivery. The pediatrician should be informed as to available treatments and interventions, including efficacy, complications and cost to the family.Neonatal (Birth to one month)
History: Review parental concerns. Was there a prenatal diagnosis of DS? If not and the physical exam suggests Down syndrome, a blood sample should be obtained for chromosome analysis. FISH testing can give indications of whether or not a third 21st chromosome is present within 24 to 48 hours; if positive, a full cytogenetic analysis should also be performed to check for translocations. The possible diagnosis should be presented to both of the parents together in a private setting. The physician should be aware of the current realities of people with Down syndrome and possibilities for their having healthy, productive lives in society. Later, the physician should meet with the parents to review and confirm lab results. Genetic counselling should be offered to the parents.Discuss and Review with Parents:
- Hypotonia
- Facial features, acknowledging the presence of familial characteristics
- Feeding issues. Encourage nursing, realizing some infants may need supplementation while learning how to nurse
- Heart defects (~50% risk). all infants with DS should receive an echocardiogram regardless of physical exam findings
- Feeding problems. Any infant with slow feeding, choking with feeding, recurrent pneumonia or persistent respiratory symptoms should receive a radiographic swallowing assessment.
- Cataracts. If found, prompt referral should be made to an ophthalmologist.
- Congenital hearing loss.
- Duodenal atresia or anorectal stenosis.
- Apnea, bradycardia or oxygen desaturaton in infants at increased risk due to cardiac defects or other risk factors.
- Constipation. If present, evaluate for limited fluid intake, hypothyroidism or GI tract malformation, including Hirschsprung disease.
- Stridor, wheezing or noisy breathing.
- Gastroesophageal reflux.
- Hematologic abnormalities. A complete blood count is recommended shortly after birth to check for leukemoid reactions, or transient myeloproliferative disorder.
- Congenital hypothyroidism. Obtain TSH if the state screening only includes free thyroxine.
- Increased susceptibility to respiratory viruses. Consider prophylaxis for the respiratory syncytial virus if there are comorbid conditions present.
- Discuss efficacy and availability of early intervention services, initiate as appropriate.
- Discuss local and national support groups, and other resources for support of the family.
- Discuss treatments that are considered complementary and alternative in an objective manner.
Infancy (One to twelve months)
Health supervision:- The 2011 Guidelines emphasize the importance of finding hearing problems. The risk for developing serous otitis (fluid in the middle ear chamber) is over 50% in infants with DS. All infants should receive a hearing screen shortly after birth. If passed, the infant should be rescreened at 6 months. If any infant fails any hearing screen, the infant should be referred to an otolaryngologist ("ENT doctor") who is comfortable examining infants with small ear canals. Middle ear disease should be treated promptly. Once the middle ear has been cleared, a diagnostic hearing test should be performed. The hearing screen should also be repeated at 12 months of age.
- Watch for signs of obstructive sleep apnea: snoring, heavy breathing, frequent awakenings, daytime sleepiness, apneic pauses and behavioral issues that may arise from poor sleep. If signs are present, refer to a physician with expertise in sleep disorders in young children.
- Watch for signs of spinal cord impingement or myelopathy that may occur from atlanto-axial instability.
- Within the first 6 months of life, refer to an ophthalmologist with expertise in infants to assess for cataracts, strabismus and nystagmus. If tear duct blockage persists past 9 to 12 months, refer for repair of lacrimal drainage system.
- Because of increased risk of thyroid disease, repeat measurement of TSH at 6 months and 12 months of age, and then annually.
- Monitor infants with cardiac defects for signs and symptoms of congestive heart failure: tachypnea, poor feeding, and poor weight gain.
- Obtain hemoglobin tests at 12 months of age and annually thereafter. Children with DS are at increased risk for nutritional anemia.
- Monitor for neurologic dysfunction. Children with DS are more prone to seizures and other conditions such as Moya moya disease.
- Administer routine vaccines.
- Monitor weight and height at each office visit. Review the growth by using the standard infant and child growth charts. The previously used Down syndrome specific growth charts no longer reflect the current population styles and body proportion. The growth should also be followed on standard weight for height and BMI charts until new Down syndrome specific growth charts can be produced.
- Review early intervention therapies, support groups and the emotional status of the parents and family members.
- Review the parents' understanding of risk and recurrence possibilities for future pregnancies. Refer for genetic counseling if necessary.
- Discuss treatments that are considered complementary and alternative in an objective manner.
Early Childhood (One to five years)
Health supervision:- Monitor weight and height at each office visit. (see above)
- Monitor hearing status through tympanograms, hearing screenings or behavioral audiograms every 6 months until normal hearing levels are established in both ears at age 4 years. Afterwards, hearing tests should be performed annually. Children who demonstrate hearing loss should be referred to an otolaryngologist who is comfortable examining young children with small ear canals.
- Children with DS have a 50% risk of refractive errors leading to amblyopia (a decrease in vision) between ages 1 and 3 years. Vision checks should be performed once a year by an ophthalmologist with expertise in young children with disabilities.
- Review for symptoms potentially related to celiac disease: chronic diarrhea, slow growth, unexplained failure to thrive, protracted constipation, anemia, chronic abdominal pain, bloating or refractory developmental or behavioral problems. If symptoms are present, obtain a tissue transglutaminase IgA level with a total IgA level. Refer children with abnormal results to a gastroenterologist for further assessment. Routine screening of asymptomatic children is not recommended.
- Measure TSH levels annually or sooner if symptoms of thyroid dysfunction occur.
- Monitor for signs of sleep apnea. Since there is poor correlation between parent report and polysomnogram (sleep study) results, polysomnography is recommended for all children with DS by 4 years of age. It is recognized by the AAP that access to a pediatric sleep study center or specialist in children with sleep apnea is limited for some populations.
- Monitor cardiac and neurologic status.
- Obtain hemoglobin concentrations annually.
Children with DS are at increased risk of atlantoaxial subluxation. Children before the age of 3 years do not have adequate mineralization of the vertebrae to allow accurate X-ray evaluation of the spine. Studies show that plain X-rays do not predict well which children are at increased risk of developing AAI and normal X-rays do not assure that AAI will not occur. With those facts in mind, the following recommendations are now made:
- Discuss with parents the importance of protection of the cervical spine during any anesthetic, surgical or radiologic procedure.
- Perform careful history and physical exam with attention to myelopathic signs and symptoms at every well child visit or when symptoms possibly due to spinal cord impingement occur. Parents should be instructed to contact their physician if new onset of symptoms of change in gait, change in use of arms or hands, change in bowel or bladder function, neck pain, stiff neck, head tilt, how the child holds his or her head, or weakness occur.
- In the asymptomatic child: Routine X-rays of the neck are no longer recommended. Participation in some sports such as soccer or gymnastics in older age groups may place children at increased risk of spinal cord injury. Use of trampolines should be avoided in children under 6 years of age, and only in older children if adult supervision is present. Special Olympics may still require neck X-rays for participation
- In the symptomatic child: Children with any of the symptoms listed above should receive a lateral neck X-ray in the neutral position. If abnormalities are found, no further X-rays are needed and the child should be referred as quickly as possibly to a pediatric neurosurgeon or a pediatric orthopedic surgeon with expertise in evaluating and treating AAI. If the neutral X-ray is normal, then flexion and extension views of the neck should be performed prior to prompt referral to the appropriate surgeon.
- Review Early Intervention, including speech, physical and occupational therapies
- At the 30-month old visit, discuss transitioning from Early Intervention to preschool, which occurs at 36 months of age.
- Assess behavioral and sociologic development. Watch for signs of autism, ADD or other behavioral problems and refer as necessary.
- Routine vaccines as needed, including influenza vaccines. Children with heart defects should also receive the 23-valent pneumococcal vaccine at 2 years or older.
- Assess teeth and refer to dentist when necessary. Delayed eruption of teeth and hypodontia (fewer teeth than normal) is common in children with DS.
- Educate parents about the risk of sexual exploitation in children with disabilities and that likely perpetrators are family members, not strangers.
- Encourage dietary and physical exercise routines that will prevent obesity.
- Discuss treatments that are considered complementary and alternative in an objective manner.
Late Childhood (Five to thirteen years)
Health supervision:- Monitor weight and height at each office visit using standard growth charts. Assess developmental status.
- Perform annual hearing screens.
- Eye exams should be performed at least once every two years.
- Monitor thyroid function annually by checking TSH levels.
- Check hemoglobin levels annually in children at risk of anemia due to poor nutritional intake.
- For children on a regular diet, review yearly for signs or symptoms possibly due to celiac disease and test where appropriate.
- Review symptoms and signs of AAi with parents. Counsel parents that some sports place children more at risk of neck injuries.
- Monitor for neurologic problems such as seizures.
- Monitor for common skin conditions such as very dry skin or eczema.
- Monitor for signs of sleep apnea. Refer as needed.
- Monitor for signs of autism. Refer where appropriate
- Review appropriateness of school placement and developmental intervention.
- Discuss socialization, relationships with siblings and other family members, health insurance and preparations for guardianship.
- Discuss self-help skills, social skills and promoting a sense of responsibility.
- Monitor for behavior problems that interfere with functioning in the school, family or community. Common problems include wandering, attention difficulties, noncompliance and obsessive-compulsive behaviors. Also monitor for psychiatric problems. Evaluate for medical conditions that can cause behavioral changes such as celiac disease, thyroid disease, sleep apnea and others. Refer as needed. Use of medication to control behaviors should be individualized as children with DS appear to be more sensitive to certain medications.
- Counsel regarding transition to middle school. This is a time of major changes, including more teachers and more classrooms. Prepare to help the child adjust if academic disparity with peers becomes greater and full inclusion becomes more difficult to achieve.
- Assess, monitor and encourage independence with hygeine and other self-help skills. Encourage parents to teach, model and respect privacy at home and in the community. Discuss management of sexual behaviors such as masturbation.
- Discuss expected changes with puberty. Remind parents that the child with DS needs more preparation in understanding and managing them. Discuss issues related to fertility and contraception.
- Discuss need for gynecologic care in the pubescent girl, including birth control and prevention of sexually transmitted diseases.
- Encourage dietary and physical exercise routines that will prevent obesity.
- Discuss treatments that are considered complementary and alternative in an objective manner.
Adolescence to Early Adulthood (Thirteen to twenty-one years or older)
Health supervision:- Monitor weight and height at each office visit using standard growth charts. Assess developmental status.
- Perform annual hearing screens.
- Eye exams should be performed at least once every two years.
- Monitor thyroid function annually by checking TSH levels.
- Check hemoglobin levels annually in children at risk of anemia due to poor nutritional intake.
- For children on a regular diet, review yearly for signs or symptoms possibly due to celiac disease and test where appropriate.
- Individualize cardiology follow-up on the basis of history of cardiac defects. In older patients with DS, annual exams should be performed to check for acquire valve disease. Teenagers and adults with a history of increasing fatigue, shortness of breath, or difficulty breathing while exercising or who have physical signs of heart disease require an echocardiogram.
- Monitor for signs of sleep apnea. Refer as needed.
- Review symptoms and signs of AAi with parents. Counsel parents that some sports place children more at risk of neck injuries.
- Monitor for neurologic problems such as seizures.
- Obtain an ophthalmologic exam at least every three years to check for cataracts, refractive errors or keratoconus.
- Discuss issues related to transition into adulthood, including guardianship and long-term financial planning.
- Discuss the increased risk of Alzheimer disease (pre-senile dementia) and signs.
- Discuss behavioral and social states. For chronic behavioral problems or acute deterioration, refer as possible.
- Discuss school placement and emphasize planning in the school for transition to adulthood, including adequate vocational training.
- For females with DS, discuss with them and parents the recurrence risk of DS should she become pregnant. Make recommendations and provide for or refer for appropriate gynecologic care.
- Continue to monitor and assess for self-help skills. Encourage independence.
- Assess, monitor and encourage independence with hygeine and self-care. Provide guidance on healthy, typical sexual development and behaviors. Emphasize the need for understandable information and encourage opportunities for advancing comprehension of sexuality. Discuss the need for contraception and prevention of STD's, as well as the degree of supervision required by each individual.
- Discuss group homes and independent living opportunities and community-supported employment.
- Facilitate transition to adult medical care.