What Is a Developmental & Behavioral Pediatrician and How Can They Help My Child with Down Syndrome?

By Dr.Shruti Mittal, MD FAAP

Dr. Mittal is a developmental and behavioral pediatrician in Charlotte, North Carolina specializing in child development, developmental and behavioral conditions such as ADHD, autism spectrum disorder, genetic syndromes, and other learning difficulties. As a developmental pediatrician, Dr. Mittal can evaluate your child’s overall development, provide behavioral and educational assessments, and recommend specific treatment plans, while also offering ongoing support to children and families. She is the director of Shine Bright Developmental and Behavioral Pediatrics. 

Developmental-Behavioral Pediatricians (DBPs) are doctors who have completed:

• Medical school (4 years)
• Pediatric Residency (3 years)
• Board certification by the American Board of Pediatrics (ABP)
• Additional subspecialty fellowship training in developmental and behavioral conditions (3 years)

DBPs are board certified pediatricians who have completed an additional 3 years of training in developmental and behavioral conditions. DBPs are required to spend time learning from a geneticist, which is not required for a general pediatrician. A DBP is a subspecialist, just like a pediatric cardiologist or gastroenterologist, and doesn’t replace the care offered by a regular pediatrician because they don’t do routine sick visits or administer vaccines.

The care for children with Down syndrome can be complex. There are many different health conditions that require ongoing screening and monitoring, such as hypothyroidism, hearing loss, obstructive sleep apnea, and GI problems such as feeding difficulties, reflux, and constipation, to name a few.  Many DBPs have experience working in clinics that specialize in providing holistic medical care for children with Down syndrome. For example, where I trained at the Medical University of South Carolina (MUSC), we had a birth to 5-year-old clinic and a school age/transition clinic for patients with Down syndrome.  The clinics had an interdisciplinary team, including an ear nose and throat (ENT) specialist, a physical, occupational, and speech therapist, as well as a psychologist.

On your initial visit, a DBP will review your child’s medical, developmental, educational, behavioral, and family history. They will usually ask to review any previous evaluations your child has had. A medical exam will be conducted, and your DBP will consider the need for additional laboratory, imaging, or genetic testing. Additionally, a DBP will talk to you about the possibility of diagnostic behavioral and developmental testing/evaluations, which may include gathering more information from teachers or performing behavioral assessments like autism and ADHD evaluations.

Children with Down syndrome are at an increased risk for autism, ADHD, and other behavioral differences. DBPs can perform medical evaluations, and prescribe appropriate medications if needed, to help a child with behavioral differences thrive.

The need for follow up depends on the child and needs of the family. For example, some lab tests, such as a TSH and hemoglobin, should be obtained every 6 months to a year, and your pediatrician can order these for you. Typically, a DBP will perform a gross motor, fine motor, language, and behavior screening assessment every 6 months when children are less than 5. For older patients, you may see a DBP every year. If your child is taking a medication for behavioral concerns, your DBP will usually want to see you every 3 months.

DBP should typically perform an assessment of adaptive functioning, or skills of daily living, once a child is of transition age at 13. A DBP also has experience in other transition age topics, such as guardianship and postsecondary inclusive education programs.

The American Academy of Pediatrics (AAP) developed health supervision guidelines for children with Down syndrome in 2011. Ask your pediatrician if they are familiar with the guidelines, because they review the medical, developmental, and behavioral screenings that are needed for a child with Down syndrome. I’ve included a summary of the main recommendations, organized by age of the child, along with this post.  The full guidelines can be found at here.

DBPs celebrate neurodiversity in children. They are highly trained and experienced in identifying a range of developmental and behavioral differences. They can help children with Down syndrome succeed by advocating for support systems at home, school, and other social environments. Because of their experience with genetics, working with therapists, schools, and psychologists, and their background as pediatricians, they have extensive knowledge about services available to help children reach their full potential. DBPs understand state and federal policies surrounding children with disabilities and can help you advocate for an inclusive education, or a less restrictive environment. For instance, a DBP can review your child’s IEP, determine what accommodations have been tried previously, and provide a letter of support with additional recommendations. Sometimes a call to the school can be helpful.

In summary, you may find meeting with a DBP helpful if you have a child with Down syndrome. You can find a list of DBP physicians here.

Down Syndrome Healthcare Guidelines

Children with Down Syndrome are at an increased risk for many comorbid conditions, therefore the AAP released 2011 Guidelines for providers. In brief, the population of people with Down syndrome have a higher risk for the following conditions and should be screened for them:

• Hearing Loss (75%)
• Obstructive Sleep Apnea (50-79%)
• Otitis Media (50-70%)
• Eye disease (60%); cataracts, severe refractive errors, strabismus
• Congenital heart disease (50%); most common is endocardial cushion defects
• GI problems (atresias – blocked or absent passageways; 12%) and feeding difficulties Most common: duodenal atresia, TE fistula, Hirschsprung’s, reflux, constipation
• Congenital hypothyroidism
• Anemia, transient myeloproliferative disorder, leukemia
• ADHD, Autism
• Hypodontia and delayed dental eruption (23%)

At Birth:

• Obtain ECHO to rule out cardiac abnormalities
• Hearing test
• Genetic testing – chromosomal analysis and microarray
• Hemoglobin/Thyroid

6 months:

• Pediatric Ophthalmologist to check for strabismus, cataracts, nystagmus
• Repeat TSH/T4/Hemoglobin/Ferritin
• ABR Audiology evaluation

Annually:

• Ophthalmology appointment
• TSH/T4/Hemoglobin/Ferritin/CRP
• Audiology Evaluation until 4 years of age
• Sleep study at age 4
• Assessment of therapies/developmental progression
• Assessment of behavior and obtain behavior checklists at age 4
• Dental check up

Health Supervision for Children With Down Syndrome

Marilyn J. Bull, the Committee on Genetics

Pediatrics Aug 2011, 128 (2) 393-406; DOI: 10.1542/peds.2011-1605