New AAP Guidelines for Patients with Down Syndrome
April 22, 2022
6 minute read
Disclosures: Bull does not report any relevant financial information. Please see the clinical report for all relevant financial information from the other authors.
The AAP recently updated its guidelines for pediatricians and families affected by a diagnosis of Down syndrome in a clinical report published in Pediatrics.
The report, authored by the AAP’s Council on Genetics, covers issues regarding prenatal intervention and breaks down the care and treatment of children with Down syndrome by age, as well as some co-occurring medical conditions.
Healio spoke with the co-author Marilyn J. Bull, MD, FAAPMorris Green Professor Emeritus of Pediatrics at Indiana University School of Medicine and neurodevelopmental physician and director of the Down Syndrome Program at Riley Hospital for Children, about the new guidelines.
Helio: What prompted the updates?
Bull: The AAP has been providing health care advice for Down syndrome for many years. We speak of advice, not guidelines, because the degree of evidence base is clinical expertise, and we are not able to grade evidence A, B or C, but provide clinical expertise. Each document for the PAA is reviewed every 3 years by the development entity. In this case, the Down syndrome guidelines were developed by the Council on Genetics. And, in 2014, it was felt that there was nothing particularly new that needed revising. In 2017, it was reviewed and it was determined that while the information was still correct, there was enough news to warrant further revision. And so, we’ve been working on this since 2017, and it’s taken a little longer with the burdens of COVID-19.
Helio: What the new guidelines say about prenatal screening and postnatal testing?
Bull: We discussed prenatal diagnosis in the 2011 version of the guide, but this version contains much more detailed information because the availability of prenatal diagnosis has been greatly improved and used by families. More and more families learn before birth that their fetus may have Down syndrome because of the prenatal screening that has been done. This is important because it gives parents and doctors an opportunity to assess the baby before birth and provide better care for that baby and the parent.
Prenatal diagnosis offers the opportunity to assess congenital heart disease, gastrointestinal abnormalities, and other significant potential abnormalities that could affect the baby’s future. This then helps to plan and be aware of how best to provide childbirth care for both the infant and the mother. They may determine that this mother should give birth in a mother-baby unit or near a specialized child care center where specialized care would be immediately available and where there would be specialists who would provide the best care.
Even after delivery, transfer to a specialized center can be considered because infants with Down syndrome, if born prematurely, are known to have feeding problems and other difficulties in the neonatal period which require intensive care. so it is an important part of managing babies and helping families. First, it is important to make the diagnosis of Down syndrome. Various tests are carried out and it is important that doctors prescribe a karyotype. A fluorescence in situ hybridization study or chromosomal microarray analysis determines that there is an extra chromosome, but the karyotype is needed to allow proper genetic counseling for the family. Every infant with Down syndrome should have an echocardiogram to evaluate the heart. These entities are not always clinically evident at delivery.
Another neonatal study that should be obtained is a complete blood count. There may be abnormalities in the blood count that are important to monitor. The third area that needs to be assessed as a newborn is that of the condition of the thyroid. Thyroid problems are very common. Congenital hypothyroidism is at increased risk in children with Down syndrome. All states have a newborn screening program, but not all do a thyroid stimulating hormone (TSH) test. If the condition is only a T-4, it may be missing congenital hypothyroidism. Thus, we have always recommended that a newborn be evaluated with a TSH test within the first few days of life. TSH is repeated again at 6 months, at 12 months, and again annually throughout life because by early adulthood about 50% of people with Down syndrome will have developed an easily treatable thyroid abnormality. So that’s the other thing that should be done as a newborn.
Helio: Are there any major changes in the new guidelines?
Bull: This is a document for physicians. It is also very popular with parents, but the main audience is doctors. One of the elements which has not previously been presented as a strong recommendation to physicians is the method by which parents are informed or become aware that their child has – or will have, in the case of a prenatal diagnosis – the syndrome of Down. Clinicians caring for families realize that how this information is presented is extremely important and they greatly value sensitivity. For example, what do you say to any new parent who has a new baby? You say, “Congratulations! We don’t say, “I’m so sorry to have to tell you that your baby has Down syndrome.” You mean, “Congratulations, you have a beautiful baby girl. Have you decided on a name? Then, the clinician can present the issues of concern in a sensitive manner and explain the resulting medical assessment. This is really a very important concept in this guide.
Helio: What is often overlooked or misunderstood about caring for children with Down syndrome?
Bull: First, it is important to recognize this and encourage families to optimize outcomes for each child. Newborn hearing screening and newborn vision assessment are things that should be done during this first week of life. Newborn hearing screening is required for the evaluation of each condition, but prompt follow-up is important. Additionally, hearing monitoring throughout childhood and even into adulthood is essential because the development of communication skills is important for all children and affects their ability to function at their best in society. Without good hearing, the development of communication skills is greatly impaired. It is therefore important to ensure that all children have good hearing.
Children with Down syndrome are also at increased risk for certain congenital vision problems, including cataracts and glaucoma. Thus, recognizing that in the neonatal period allows specialists to provide optimal treatment.
Families and physicians need to recognize that children with Down syndrome have variable potential that is often greater than recognized. People with Down syndrome function better socially, sometimes, than their intellectual cognitive abilities reflect. Never impose limits on a child in terms of development potential, and it is important to nurture them in the best way from a sensory and educational environment.
The other thing that is often overlooked is the behavioral and emotional components of caring for children with Down syndrome. Conditions such as autism can be attributed to Down syndrome, not as a concurrent condition. Thus, children with Down syndrome diagnosed with autism deserve the same treatment that any autistic child deserves and receives. Early screening for autism is recommended, and it’s new to this guide. It is therefore important not to assume that any observed delays or differences are due solely to Down syndrome – we call this the eclipse. It is important to recognize that delay in diagnosis of clinically treated conditions is extremely important to the long-term outcomes of a child with Down syndrome. And that’s true for other emotional behavioral entities like ADHD and anxiety. And children fare much better when appropriately treated for any developmental and behavioral issues.
Helio: What is the main take-home message for paediatricians?
Bull: The average pediatrician in practice will see zero to three patients in their clinical care with Down syndrome, and it is very difficult to be current and current in every entity. Thus, we hoped that this document will be a guide for paediatricians who provide care to a child. And there’s a summary at the end of the guidance document that hopefully helps the care provider look at the age of the child and ask themselves what they’re supposed to do, and s ensure that it meets all the important evaluation criteria. The other novelty of this document concerns growth curves specific to Down syndrome. There is a list of resources for clinicians at the end.
One thing that did not change at all in this advice was the assessment of atlantoaxial instability and the fact that parents should be made aware of the possible symptoms. Neck x-rays are not routinely indicated or recommended unless a child is showing certain types of symptoms. Neck x-rays expose infants to unnecessary radiation, are difficult to interpret in many cases, and children have been inappropriately restricted in their activities. Routine neck X-rays are therefore strongly discouraged. Just make sure parents are aware of the symptoms, which are also listed in the tips.