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Infant Toddler Development Training
Module 6, Lesson 2

Genetic Disorders

Genetic disorders and endocrine disorders are common causes of poor nutritional status. Genetic disorders associated with feeding issues include Fragile X syndrome, Down syndrome, Prader-Willi, and William's syndrome.

Fragile X

Fragile X is a genetic disorder that occurs in males and females. Males are usually more severely affected. Common characteristics include severe behavioral issues including autistic like behaviors. Associated nutritional issues include hypotonia or low muscle tone that can make feeding difficult. Vomiting may occur and there are often food refusals. There is associated mental retardation usually much more severe in males affected with the disorder than females. To learn more, visit the Fragile X Homepage.

Down Syndrome

The most common genetic syndrome is Down syndrome where there is a trisomy on chromosome 21. Information relating to Down syndrome can be obtained through the National Association of Down Syndrome.

baby getting a bathChildren with Down syndrome usually have lower metabolic rates. This means that they use fewer calories to perform the same activities as their typical peers and this can lead to weight gain and to obesity. Some children with Down syndrome have associated cardiac defects and may have increased respiratory infections. These medical issues delay feeding skills, reduce appetite, and in infancy can result in a failure to gain weight. However, as the medical conditions are treated and the child grows into adulthood they tend toward obesity unless they are on a program that assists them in an appropriate mix of nutrition and aerobic exercise.

Read Looking at Metabolism by Joan E. Medlen, RD, L.D. and consider the following scenario:

Mary Jo is a 28 month old who has Down syndrome. She has no cardiac complications. She required ear tubes for multiple ear infections when she was eleven months of age. Other than this, she has been in good health. Her mother asks her ITDS to accompany her to Mary Jo's next visit to see the pediatrician. Mother is concerned that Mary Jo is getting fat. Her muscle tone is mildly hypotonic, but Mary Jo is active and seems to enjoy most of the sensory motor activities that would be expected for a child her age. Mary Jo's BMI was at the 95th percentile plotted on a 0 – 2 female growth chart for typical children when she was 23 months of age.

Question: Which of the following would the ITDS expect to hear from the pediatrician?

  1. Children with Down syndrome are usually as active as their typical peers.
  2. Children with Down syndrome use fewer calories overall to perform the same functions as their typical peers.
  3. Children with Down syndrome should have their height and weight measured on growth charts that are appropriate for the general population of children.
  4. Limiting calories would be the preferred method of controlling weight in children with Down syndrome.
  5. Increasing aerobic activity would be the preferred method of controlling weight in children with Down syndrome if there were no other complicating medical conditions to consider.
  6. Mary Jo has a BMI that may be indicative of future problems with obesity.

Question: Based on information from the article by Joan Medlen, M.D. (1996) and the content in this lesson, how would the ITDS clarify or expand the information from the pediatrician for the mother?

Prader-Willi Syndrome

mother feeding babyAnother genetic condition where children are extremely vulnerable to obesity is Prader-Willi syndrome. Children with Prader-Willi syndrome usually are compulsive eaters. Children with Prader-Willi may have mild to moderate global developmental delays. Often they tend to have a condition known as hyperphagia. This means they will eat everything in sight. In addition to the developmental pediatrician, it is recommended that a behavioral specialist work with the family to create a plan so that food intake can be monitored. Resource information both in English and Spanish is available from the Prader Willi Syndrome Association of the USA

William's Syndrome

A genetic disorder that occurs in approximately 1 out of 20,000 births is William's syndrome or Williams-Beuren syndrome. There is a defect of the seventh chromosome that can be from either parent. Infants and toddlers with William's syndrome have infantile hypercalcemia, growth retardation, and usually have problems with colic. Feeding issues may also include vomiting and constipation. It is not uncommon for an ITDS to be involved on the team for a child with William's syndrome. It is important to recognize that children with this syndrome are auditory learners as opposed to visual learners. There are issues with attention deficit that will require close collaboration with the developmental pediatrician or psychologist when planning learning strategies and routines to assist nutrition. The William's Syndrome Foundation has comprehensive information about this syndrome.


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