Down syndrome: Primary physicians and parents partner in care

August 1, 2016

Historically, the care of children with Down syndrome was often managed through specialty services, with the pediatrician/family physician serving a secondary role. Shifts in the healthcare environment have altered this model, with today’s primary care physicians taking on a greater role in care coordination.

Historically, the care of children with Down syndrome was often managed through specialty services, with the pediatrician/family physician serving a secondary role. Shifts in the healthcare environment have altered this model, with today’s primary care physicians taking on a greater role in care coordination. This phenomenon coupled with shifting perceptions regarding the abilities of children with Down syndrome has created a strong need for a partnership between physicians and parents/caregivers to ensure that children’s physical and emotional needs are met throughout their development.

Attitudes and approaches to Down syndrome care have evolved substantially over the past 30 to 40 years. Prior to the 1980s, individuals with Down syndrome were often institutionalized as infants and young children, regardless of their abilities.1 If not placed outside the birth family home, they were kept secluded in the home. Children with Down syndrome were not allowed to attend public schools nor participate in outside-the-home activities. Few children were expected to learn to talk, and many believed that these children would not learn to walk or run. Moreover, because physical problems and medical complications associated with Down syndrome were not easily managed, the life expectancy averaged just 28 years.

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The care of and prognosis for children with Down syndrome since then has changed dramatically. The average life expectancy has increased to 60 years, very few infants and children reside outside the home, and all children have the opportunity to attend and graduate from public school.1 Children with Down syndrome participate in typical childhood activities such as attending church, going to the grocery store, playing at community playgrounds, and enjoying big screen movies at theaters. Teenagers and young adults are gainfully employed; many are in “regular” jobs, not just those earmarked for persons with disabilities.

With these changes comes a greater need for education and support for the primary care provider as well as for parents/caregivers. No longer is the care of patients primarily driven by specialists. More and more, the local practice (either pediatrician or family physician) serves as a medical home for the patient and his or her family. Families feel more comfortable with this approach because they know the providers and the providers/office staff know them. However, moving care back to the local community puts greater onus on the physician as a primary source of information for parents and caregivers regarding the medical and developmental needs of children with Down syndrome.

Medical problems

Children with Down syndrome experience health issues that must be assessed throughout their life (Table 1).2 Among the more common ailments are hearing problems (affecting an estimated 75% of children), ocular disorders/vision problems (including refractive errors and cataracts), obstructive sleep apnea, and otitis media. Although some issues may be present from birth (eg, congenital heart disease, which occurs in an estimated 40% to 50% of children with Down syndrome), others may develop over time, thus requiring ongoing monitoring throughout childhood.

The American Academy of Pediatrics (AAP) has published a comprehensive health supervision plan for children with Down syndrome that breaks down recommendations by age.2 In the following sections, this article will highlight some of the key recommendations (Table 22). It is important to note that, in addition to the condition-specific recommendations, all general health supervision guidelines for children (eg, the Bright Futures guidelines3) should be followed in children with Down syndrome.

Birth to 1 month

All infants with Down syndrome should undergo genetic testing with a complete chromosomal analysis, if this was not completed prenatally. Given the propensity for congenital heart disease, neonatal echocardiography is essential. Although all infants have hearing tests done at birth, particular attention should be paid to the neonatal screening results; if the screening is not passed, the infant should be referred to a specialist. Eye health also should be evaluated and, if abnormalities are detected, further evaluation by an ophthalmologist is warranted.

Laboratory evaluations should include a complete blood count and measures of thyroid function (if the state newborn screening only measured the free thyroxine level). Parents should be advised to report slow feeding, choking, spitting up, or abnormal stools (constipation), as these may be signs of underlying issues. Failure to thrive is also a concern among newborns with Down syndrome. Because infants with Down syndrome are prone to hypotonia, they should be monitored closely in car seats to ensure that cardiac and oxygen tissue perfusion is not compromised because of poor position. Most importantly, parents of newborns with Down syndrome should be assisted in compiling local and online resources for information and support.

Next: More recommendations by age

 

1 month to 1 year

Hearing screens, ophthalmologic evaluations, and thyroid function testing continue to be performed throughout childhood, with the frequency of assessment depending on the child’s age (Table 2).2 Infants should continue to be monitored for any cardiac, stomach, and/or bowel issues. Because some children with Down syndrome may have neck/spine instability, the neck should be kept in a neutral position, particularly for any medical procedures. However, on a day-to-day basis, usual childhood activity should not be limited, and x-rays are only needed if the infant or child exhibits symptoms such as changes in hand, leg, or bowel function. Parents should be informed of the signs and symptoms of obstructive sleep apnea to ensure timely specialist referral, if needed. Growth should be plotted using the recently published charts specifically designed for children with Down syndrome4 (accessible at bit.ly/CDC-Down-syndrome-growth-charts).

1 year to 5 years

The AAP recommends that every child with Down syndrome should undergo a sleep study by the age of 4 years, whether or not there are obvious symptoms present.2 From age 1 to 5 years, toileting issues and bowel habits should be discussed at each visit. Constipation is a frequent problem and may hinder toilet training. For children who experience gastrointestinal symptoms, poor growth, anemia, or unexplained behavioral issues, testing for celiac disease should be considered. Every 6 months, hearing should be evaluated through audiogram and tympanometry testing until bilateral hearing can be validated by behavioral testing, usually around age 5 to 6 years, depending on the developmental level of the child. Ongoing assessment and monitoring for atlantoaxial instability is recommended.

5 years to 13 years

From the age of 5 years to age 13 years, the child should be observed for developmental and physical growth patterns, and school progress should be discussed with the parents. Now is also the time to open a dialogue with parents regarding development of the child’s self-care, social skills, and independence. Anticipatory planning should address issues of transition to adult care and gynecologic care for females. As with any child, both the patient and his/her parents should be educated about changes that will occur in the child during puberty and increasing sexual maturation.

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13 years to 21 years

Throughout the teenaged years and early adulthood, routine evaluations (eg, hearing, hemoglobin concentration, and thyroid function) are recommended annually (Table 2).2 Even if the child was not born with heart problems, acquired heart conditions may occur in older patients; therefore, attention should be paid to potential mitral or aortic valvular disorders. With sexual maturation comes the need to address high-risk behaviors and preventative measures for pregnancy and sexually transmitted disease.

At this time, there is a greater focus on transition planning for medical care, school, and vocational training. The transition process is not as simple as it may sound. Securing an adult provider with expertise and willingness to accept a young adult with Down syndrome may be challenging. Additional questions parents must ask themselves include:

·      Is there a need to obtain guardianship and/or a designated power of attorney?

·      What long-term financial arrangements need to be made (ie, trusts)?

·      How will friendships with peers be maintained after completing schooling?

·      What employment opportunities are available?

·      Who will take care of the adult child if the parents cannot?

For most families, adult care facilities such as group homes and transitional care homes are limited and, if found, may be located at a great distance and be cost prohibitive to the family. The medical home can offer support for these families and assist them in contacting resources in the community.

When using health supervision guidelines, regardless of age, it is important to anticipate upcoming issues/needs that may be encountered by the child and family. One such early need is education and emotional support for parents when their child is first diagnosed with Down syndrome, whether before or after birth. Professionals in the medical home may be able to provide sufficient education, support, and counseling to help parents cope with the initial shock and grief that they may experience and to assist families as they grow in acceptance of their new journey. However, specialist referral may be needed for more complex adjustment issues.

The primary care provider should also prompt parents to be mindful of those times in a child’s life when additional stressors may be incurred; for example, the birth of a sibling, the start of preschool/kindergarten, entry into middle school, or the onset of puberty. Ongoing assessment and monitoring for stressors by the primary care provider and family is essential in preventing or ameliorating problems. The best outcomes are achieved when the medical home professionals, family, and child work together as a team to anticipate and solve problems.

Next: Behavioral considerations

 

Behavioral considerations

Behavior problems are common in children with Down syndrome. Approximately 30% have behavior issues as compared with 10% of typically-developing peers.5 However, children with Down syndrome have about half the risk of serious psychopathology when compared with peers who have other forms of intellectual disability.6 For all children, behavioral issues in childhood can become persistent or more problematic in adulthood if not addressed early.

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Multiple factors (genetic, medical-physiologic, neuropsychologic, and environmental) contribute to the behavioral issues associated with Down syndrome. For example, delay in myelination,6 reduced growth of frontal lobe,7 a smaller brain stem and cerebellum, and temporal lobe and hippocampal dysfunction can lead to problems with executive function and transfer from short-term to long-term memory.6,8,9 In contrast, social skills are usually a strength for children with Down syndrome; they tend to exhibit more prosocial behaviors-they share more easily, have more patience, stay on tasks, and are interactive in group behaviors and activities.6 Consideration for these strengths and relative weakness give insights into managing problematic behaviors.5,9-11

Behavior 101

Determining the function of the behavior helps to understand what the child is trying to communicate and how best to intervene, and can reduce stress/frustration. Typical functions of behavior in children with Down syndrome include attention seeking, avoidance or escape, immediate gratification, need for sameness, and communication.9,10 Because children with Down syndrome are often very social, any social response from others gives the child an increased neurological reward in the stimulation center of the brain,10,12 thereby reinforcing the behavior. Behaviors persist or are maintained if they are positively or negatively reinforced. The goal is to reinforce behaviors you want to see and teach children what you expect of them.9

NEXT: What about formalized behavioral assessment?

 

A formalized behavioral assessment can aid in understanding behavior. A functional behavior assessment (FBA) examines the relationship between events in a child’s environment and the occurrence of a behavior. The assessment can also assist in identifying factors that may inadvertently reinforce the behavior.11 An FBA should evaluate the:

·      Antecedent-What was the activity prior to the behavior, who was present and involved, and what was the immediate trigger?

·      Behavior-What behavior(s) occurred, how long did they last, and what was the intensity?

·      Consequence-What was the response of the parents/caregiver/teacher/etc; what was the behavior of others; and what happened to the original activity?

Once these components are known, the function of the behavior can be determined. For example, JS is playing a kickball game at the playground with his siblings and neighborhood friends (supervised by the mothers). Suddenly, JS begins to roll on the ground and throw dirt in the air. His mom goes over to him, and he runs toward the swings. She catches up with him at the swings. She tells him he should not leave the game. Then, she laughs, hugs him, and begins swinging with him. The antecedent is the game; the behavior is that JS begins to roll on the ground and throw dirt and runs away to a different activity; the consequence is that the mom diverts her attention to JS and positively rewards his behavior. The hypothesized function is attention-seeking.

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With an understanding of the function of the behavior, strategies can be developed to prevent or mitigate the behavior (Figure 1). Depending on the nature of the behavior, a variety of techniques may be employed,5,9-11 such as:

·      Develop a schedule of expected tasks or events for the day.

·      Give the child a choice of activities, materials, locations, or tasks (eg, “You may write your name with a pencil or a crayon”).

·      Associate more difficult tasks with easier/enjoyable tasks.

·      Ask the child to collaborate with you in performing the task.

·      Teach the child a better, more appropriate communicative response.

·      Reinforce preferred behaviors or the omission of a troublesome behavior.

·      Avoid rewarding problematic behaviors.

It is important to remember to keep it simple and be clear and concise in instructions and directions.

NEXT: Navigating care

 

Navigating Down syndrome care

As the primary healthcare resource and touchpoint, pediatricians and family physicians are uniquely positioned to provide guidance and counseling for parents/caregivers of children with Down syndrome. In addition to educating parents on the medical needs of their children and signs/symptoms to be aware of, the medical home staff can assist parents in traversing the complexities of specialty referrals (including behavioral specialists, allied health therapists, and mental health professionals for assistance in managing behavioral issues) and in securing needed individualized educational plans for their child. Medical home staff can also direct parents and caregivers to community and online resources and support groups (Table 3).

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Understanding the unique profile of a child and his or her behavior can help the parent develop more appropriate strategies in the management of that behavior. Ultimately, the goal is to build upon a child’s individual strengths and develop new skills. The healthcare provider within the context of the medical home, can provide insight for understanding and support for families in their day-to-day lives.

Acknowledgement: The authors would like to acknowledge the nurses, staff, patients, and families of Sparks Pediatrics.

 

REFERENCES

1.         Whitten MS. The story of two syndromes. Available at: http://www.globaldownsyndrome.org/about-down-syndrome/the-story-of-two-syndromes/. Accessed July 22, 2016.

2.         Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393-406. Erratum in: Pediatrics. 2011;128(6):1212.

3.         American Academy of Pediatrics. 2015 recommendations for preventive pediatric health care: Committee on Practice and Ambulatory Medicine and Bright Futures Periodicity Schedule Workgroup. Pediatrics. 2015;136(3):e727-e729.

4.         Zemel BS, Pipan M, Stallings VA, et al. Growth charts for children with Down syndrome in the United States. Pediatrics. 2015;136(5):e1204-e1211.

5.         Stein D. Behavior and Down syndrome. Available at: http://dsagsl.org/wp-content/uploads/2014/04/Behavior-Down-syndrome-Stein-2012.pdf. Published 2012. Accessed July 22, 2016.

6.         Fidler DJ, Most DE, Philofsky AD. The Down syndrome behavioural phenotype: Taking a developmental approach. Down Syndr Res Pract. 2009;12(3).

7.         Fidler DJ, Nadel L. Education and children with Down syndrome: neuroscience, development, and intervention. Ment Retard Dev Disabil Res Rev. 2007;13(3):262-271.

8.         Daunhauer LA, Fidler DJ. Executive functioning in students with Down syndrome. National Down Syndrome Society Webinar Series 2012. Available at: http://www.ndss.org/Global/executive functioning webinar.pdf. Published February 23, 2012. Accessed July 22, 2016.

9.         Esbensen AJ, Stein DS. Behavioral concerns in Down syndrome: Cognitive etiology, manifestations and interventions. Paper presented at: Down Syndrome Medical Interest Group-USA Annual Symposium; July 2014; Indianapolis, IN.

10.      Pipan M. Atypical behaviors in children with Down syndrome. National Down Syndrome Society Webinar Series. Available at: http://www.ndss.org/Global/atypical_behaviors_in_ds.pdf. Published March 31, 2010. Accessed July 22, 2016.

11.      Feeley KM, Jones EA. Addressing challenging behaviour in children with Down syndrome: the use of applied behaviour analysis for assessment and intervention. Downs Syndr Res Pract. 2006;11(2):64-77.

12.      National Down Syndrome Society. Managing behavior. Available at: http://www.ndss.org/Resources/Wellness/Managing-Behavior/. Accessed July 22, 2016.

Dr Khatri is associate professor of Pediatrics at the University of Alabama at Birmingham (UAB) and medical director at Sparks Pediatrics, part of the UAB Civitan-Sparks Clinics, Birmingham, Alabama. He is board certified in Pediatrics and Developmental Behavioral Pediatrics. Dr Carlisle is associate professor at the Tanner Health System School of Nursing, University of West Georgia, Carrollton, Georgia, and a board-certified pediatric nurse practitioner at Sparks Pediatrics, Birmingham. The authors have nothing to disclose in regard to affiliations with or financial interests in any organizations that may have an interest in any part of this article.