Guest Post by Dr. Emily Gallagher
At Seattle Children’s Hospital we have families coming from around the Pacific Northwest for a wide array of illness, disorders, and needs. In the Craniofacial Center, children with disorders of the head and face receive ongoing care, often from birth through adolescence. These disorders are often related to birth defects or genetic syndromes. The Craniofacial Center houses a specific clinic for patients with a genetic disorder called “22q11.2-related disorder”. This is a common genetic syndrome caused by differences in the amount of DNA in this area, usually missing (deletion) or additional (duplication) genetic material. 22q is characterized by varied physical issues that may affect many different parts of the body (such as heart abnormalities, cleft palate, or speech disorders), as well as developmental delay.
In pediatrics, we often focus on the development of infants and young children with disability. However, as they age into the teen years, needs are sometimes missed. I asked a colleague for information on some of the needs she sees in her adolescent patients with developmental delay.
What are some of the needs you see in your patients as they age?
Patients with 22q, as well as patients with other types of medical problems, often have questions about their condition when they become older. Whether there are medical interventions that are needed at an age where the patient can participate in making medical decisions, or whether a patient is recognizing their own differences or limitations, this can be an important time to discuss the condition with a medical provider.
In the 22q clinic, patients are cared for by a craniofacial pediatrician who can discuss the condition and related medical problems with the patients when they are ready and curious for more information. In addition, for any adolescent with a birth defect or a genetic syndrome, this is a time when questions often come up about why they were born with this difference and what the chances are of passing this condition on to their child if they choose to have a baby. We recommend visits with our genetic counselor at this age to provide more information to our patients as they become older and ask questions about their health.
The conversations around reproductive health vary depending on the severity of developmental delay. For patients who are more severely delayed, parents or care providers often initiate conversations about reproductive health. Patients with 22q, for example, may have difficulty understanding social situations or consequences of their behavior, or navigating independence during this time, and a discussion about reproductive health and family planning is very important. We recommend a visit with an adolescent medicine specialist at this age to have these discussions with patients and families.
Patients with developmental delays often receive additional support at school, and families and schools must partner to find the best ways to encourage progress at school and also keep patients safe. Adolescence is filled with social challenges for any child, but especially for patients with developmental delays, help from adults who can keep them safe and enable them to reach their full potential is crucial. Patients with 22q have a range of learning differences.
Some patients do quite well in school, some thrive with minimal support, and others may need significant services from the school to make progress. Schools can often help with periodic assessments to make sure the child is receiving the services he or she needs in school and guide the student towards educational goals that are appropriate and individualized.
Employment? Independent living?
Parents of children with developmental delays often have questions during adolescence about their child’s future, with regards to independent living and employment. Because of the range of severity we see in patients who have 22q-related disorders, we discuss this with families over a period of years in the 22q clinic, and team members from various disciplines provide support to families and patients as these decisions are explored. As a team partnering with families, we are better able to help find appropriate living situations and employment for patients with 22q or other types of developmental delay.
Transition to adult Care?
For children with complex medical needs, transitioning to adult care is a crucial part of their care during adolescence. We often partner with the Transition Care Program at the University of Washington. While pediatric patients are cared for by teams that often involve several disciplines and include support from nursing and social work, adult programs tend to have more limited resources and can feel alienating to patients with developmental delays.
A gap in care as an adolescent patient transition to the adult world can result in poor outcomes and dissatisfaction with the medical system. The Transition Care Program at UW helps improve care and patient outcomes by helping to match patients with the appropriate providers and services in the community. They start working with patients at age 17, often seeing them annually until age 21, then check in with the patient again at age 24 to make sure they are receiving the appropriate services. Their team includes social work and nurse coordinators who help with the transition, and the goal for their patients enable coordinated visits and preserve health. We are thrilled to be able to partner with this important program as we help transition our patients with 22q or other types of complex genetic syndromes to adult care.