Q&A: AAP’s new guidance on patients with Down syndrome
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The AAP recently updated its guidance for pediatricians and families affected by a diagnosis of Down syndrome in a clinical report published in Pediatrics.
The report, written by the AAP Council on Genetics, covers questions concerning prenatal intervention and breaks down the care and treatment of children with Down syndrome by age, as well as some concurrent medical conditions.
Healio spoke with co-author Marilyn J. Bull, MD, FAAP, the Morris 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 guidance.
Healio: What prompted the updates?
Bull: The AAP has been doing health care Down syndrome guidance for many years. We say guidance, not guidelines, because the degree of evidence base is clinical expertise, and we are not able to grade the evidence A, B or C, but provide clinical expertise. Every document for the AAP is reviewed every 3 years by the developing entity. In this case, the Down syndrome guidance was developed by the Council on Genetics. And, in 2014, it was felt there wasn't anything particularly new that required revision. In 2017, it was reviewed and it was determined that although the information was still correct, there was enough new that it would warrant re-revision. And so, we have been actually working on this since 2017, and it has taken a little longer with the burdens of COVID-19 intervening.
Healio: What does the new guidance say about prenatal screening and postnatal testing?
Bull: We discussed prenatal diagnosis in the 2011 version of the guidance, but this version has much more detailed information because availability of prenatal diagnosis has been greatly enhanced and used by families. More families are learning prenatally that their infant fetus may have Down syndrome because of the prenatal screening that was done. This is important because it gives parents and physicians an opportunity to evaluate the baby prenatally and to provide better care for that infant and the parent.
Prenatal diagnosis provides the opportunity for evaluation for congenital heart disease, gastrointestinal anomalies and other significant potential anomalies that would affect the outcome for the baby. This then allows for planning and being aware of how to best provide the care for them at delivery for both the infant and the mother. They may determine that that mother should deliver in in a mother-baby unit or near a children’s specialty center where specialty care would be immediately available and there would be specialists that would provide the best in care.
Even after delivery, transfer to a specialty center may be a consideration because we know that infants with Down syndrome, if they're born prematurely, have feeding problems and other difficulties in the neonatal period that require intensive care. so that that's an important part of managing babies and helping families. First of all, making the diagnosis of Down syndrome is important. There are different tests that are done, and it is important that the physicians order a karyotype. A fluorescence in situ hybridization or chromosomal microarray analysis study determines that there's an extra chromosome, but the karyotype is required to allow for good genetic counseling for the family. Every infant with Down syndrome should have an echocardiogram to assess the heart. Those entities are not always clinically evident at delivery.
Another neonatal study that should be obtained is a complete blood count. There can be abnormalities in the blood count that are important to follow. The third area that needs to be assessed as an infant newborn is that of thyroid status. Thyroid problems are very common. Congenital hypothyroidism is at an increased risk in children with Down syndrome. All states have a newborn screening program, but they don't all do a thyroid stimulating hormone test (TSH). If the state does only a T-4, they may miss the congenital hypothyroidism. So, we have always recommended that a newborn be evaluated with a TSH test in the first days of life. The TSH is repeated again at 6 months, at 12 months and again annually throughout life because by early adulthood, about 50% of individuals with Down syndrome will have developed a thyroid abnormality that is easily treatable. So, that's the other thing that should be done as a newborn.
Healio: Are there major changes in the new guidance?
Bull: This is a document that's intended for physicians. It's also very popular with parents, but the primary audience is physicians. One of the elements that has not been previously presented as a strong recommendation to physicians is the method in which parents are informed or become aware that their child has — or will have, in the case of prenatal diagnosis — Down syndrome. Clinicians caring for families are aware that how that information is presented is extremely important, and that they greatly appreciate 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, your baby has Down syndrome.” You want to say, “Congratulations, you have a beautiful baby girl. Have you decided on a name?” And then the clinician may present the issues that are of concern in a sensitive fashion and explain the subsequent medical evaluation. This really is a very important concept in this guidance.
Healio: What is often overlooked or misunderstood about caring for children with Down syndrome?
Bull: First, it's important to recognize that and to encourage families to optimize the outcome for every child. Newborn hearing screen and the vision assessment as newborns are things that should be done in that first week of life. The newborn hearing screen is required on every state's evaluation, but following up on that quickly is important. Also, monitoring hearing throughout childhood and even into adulthood is critical because development of communication skills is important for all children and affects their ability to function in society to their best potential. Without good hearing, communication skill development is greatly impaired. So, making sure that all children have good hearing is important.
Children with Down syndrome also are at increased risk of some congenital vision problems, including cataracts and glaucoma. So, recognizing that in the newborn period allows specialists to provide optimal treatment.
Families and physicians need to recognize that children with Down syndrome have varying potential that is often greater than is recognized. Persons with Down syndrome function better socially, sometimes, than their intellectual cognitive abilities would reflect. Never put any limits on any child in terms of their developmental potential, and nurturing them in the best way from a sensory input and educational environment is important.
The other thing that's frequently overlooked is the behavioral and emotional components of care of children with Down syndrome. Conditions like autism can be attributed to the Down syndrome, and not actually as a concurrent condition. So, children with Down syndrome diagnosed with autism deserve the same treatment that any child with autism deserves and benefits from. Early screening for autism is recommended, and that is new in this guidance. So, it's important to not assume that the delays or differences that are seen are due only to the Down syndrome — we call that overshadowing. It is important to recognize that delay in diagnosis of clinically treated conditions is extremely important for the long-term outcome of a child with Down syndrome. And that's true for other emotional behavioral entities like ADHD and anxiety. And children do much better when they are appropriately treated for any developmental and behavioral problem.
Healio: What is the major take-home message for pediatricians?
Bull: The average pediatrician in practice will see zero to three patients in their clinical care with Down syndrome, and it's very challenging to be current and up to date in every entity. So, we have hoped that this document will be a guidance for pediatricians who provide care for a child. And there is a summary at the end of the guidance document that helps the care provider, we hope, look at the age of the child and ask themselves what they are supposed to do, and make sure that they're meeting all of the important criteria for assessment. The other thing that's new in this document is Down syndrome-specific growth charts. There's a list of resources for clinicians at the end.
One thing that did not change at all in this guidance was evaluation for atlantoaxial instability, and that parents should be informed of possible symptoms. Radiographs of the neck are not indicated or recommended on a routine basis unless a child manifests some kinds of symptoms. Radiographs of the neck expose the infant to unnecessary irradiation, are difficult to interpret in many cases and children were being restricted in their activity inappropriately. So, it's strongly recommended that we not do radiographs of the neck on a routine basis. Just be sure that parents are aware of the symptoms, which are listed in the guidance as well.