patient advocacy

Supporting Patients with Down Syndrome

Diagnostic testing and modern science have allowed pediatricians and caregivers to better understand a diagnosis of Down syndrome and what this means for their children and families. Other advances have resulted in victories such as expanded life expectancy for people with Down syndrome and better whole person care. For pediatricians, caring for families of a child with Down syndrome means monitoring the patient for comorbidities, while preparing to become part of a lifelong support system.

Modern Advances in Down Syndrome

Advances in medical care and a broader cultural understanding of Down syndrome mean that communication with families and expectant parents should include the latest information in order to give caregivers the best support in their decision-making. In a detailed and comprehensive clinical report in the April 2022 edition of Pediatrics, authors Marilyn J. Bull, MD FAAP et al describe updates to caring for patients with Down syndrome, from prenatal testing to adult transitional healthcare. We’ll touch on a few points in this post.

According to the report, “The American College of Obstetricians and Gynecologists recommends that all pregnant women, regardless of age or risk status, be offered the option of screening and diagnostic testing for Down syndrome.” The increase in diagnostic testing has increased prenatal awareness of Down syndrome, leading to many parents to weigh whether or not to continue the pregnancy to term. While other screens are available for Down syndrome, the best available diagnostic tests are chorionic villus sampling (CVS) or amniocentesis.

Pediatricians may be asked to counsel caregivers who are expecting a child who has tested positive for trisomy 21, especially if a previous relationship is established. This consultation can include descriptions of the testing involved to diagnose Down syndrome, possible comorbidities such as heart defects to watch for, positive advances such as increased life expectancy for patients with Down syndrome, support resources, and as always, a fair and unbiased perspective.

For caregivers who decide to continue the pregnancy after a prenatal diagnosis, delivery plans, treatment options, and long term support plans can be discussed, especially the family’s relationship with their pediatrician and medical home. Especially since patients with Down syndrome and their families may require specialist visits, the child’s connection to a patient-centered medical home in their pediatrician’s office can be an incredible resource for families and healthcare teams alike.

Clinical Considerations for Pediatric Down Syndrome

Pediatric care for children with Down syndrome varies by the child’s age and needs, and will also vary based on any associated comorbidities or congenital birth defects such as heart defects, or vision/hearing problems. 

Important clinical considerations include:

  • Early intervention programs, such as for gross motor skills and speech therapy
  • Counseling parents on necessary precautions, such as proper cervical spine alignment and the increased risk of respiratory tract infections
  • Monitoring of congenital birth defects or comorbidities
  • Supporting parents in selecting and maintaining relationships with specialists such as educators, therapists
  • Checking in on caregivers’/siblings’ emotional state at each well visit
  • Review support resources, including education plans such as through the Individualized Education Program
  • In adolescence: transitional healthcare and considerations for adult health, such as sexual healthcare and community employment

A clinical tool pediatricians will find useful in treating patients with Down syndrome is an accurate growth chart: PCC users can configure the Down syndrome growth chart in their EHR.

Support Systems Beyond the Medical Home

Caregivers of a child with Down syndrome will have many questions and likely need lots of support. Pediatric practices can offer resources for families navigating educational, financial, and logistical needs.

Practices can begin by locating local support groups and documenting trusted partners – while it will be important for families to identify and form relationships with groups on their own, it can be helpful for pediatricians to be informed on which groups are supportive, well-documented, and provide accurate information. Local groups can be located via organizations such as the Global Down Syndrome Foundation.

Educational support will be available either through private institutions or via the special education program in the family’s local school district. Inclusive education is regarded by Down syndrome advocacy groups as the most supportive avenue for children. Pediatricians can help guide parents through potentially tough transitions such as from elementary to middle school, and from high school to college or employment.

Community support is necessary throughout all stages of the child’s life – in early childhood, siblings and parents will need support to best understand their family member’s needs and strengths. Caring for a child with a chronic disability can be wearing on parents, and caregiver support should be a non-judgemental resource. Through the child’s life, they will engage more with their community, finding support through connections with other people with Down syndrome, community-supported employment, and group activities and/or employment.

While support resources such as mental health support, financial assistance, educational teams, and the patient-centered medical home are all great places to start, pediatricians and parents need the right tools to help support kids with Down syndrome into a life of joy and health. PCC is proud to create a pediatric-specific EHR that supports the care of all children. Learn how the pediatricians at a North Carolina practice sought the pediatric-specific tools PCC offers in order to best serve their patients and community.

Read the PCC Success Story

Allie Squires

Allie Squires is PCC's Marketing Content Writer and editor of The Independent Pediatrician. She holds a master's in Professional Writing from NYU.