Down Syndrome

Down syndrome (DS) is a common genetic condition that causes an extra chromosome 21 to be present in a person’s cells, resulting in 47 total chromosomes instead of 46. A person with Down syndrome has 3 copies of chromosome 21 (trisomy 21) rather than 2 copies in each cell of the body. This genetic difference may cause the following symptoms:1

  • Characteristic facial features: flattened facial profile, up slanting eyes, epicanthal folds, and a small nose.1
  • Other physical differences: short 5th fingers, single palmar crease, wide gap between first and second toes, muscular hypotonia (low muscle tone), and increased flexibility.1
  • Increased risk for certain medical problems: cardiac abnormalities, thyroid dysfunction, hearing deficits, vision differences, gastrointestinal abnormalities and difficulties with feeding.1

As a result of the multiple developmental and medical issues that individuals with DS are at risk for, lifelong care is needed to identify and regularly address medical problems. Medical guidelines have been published outlining the specific medical needs for children, adolescents and adults with Down syndrome to serve as a guide to their care for both parents and health professionals. Regular surveillance of hearing, vision, thyroid, growth and development is essential. Some children may also require surgical intervention for heart conditions, gastrointestinal problems, or hearing deficits.2 While some children with DS have multiple medical complications, other children may have very few.

Developmental challenges: developmental delays and learning differences.

Children with DS often have delays in gross motor development, speech and expressive language skills, and fine motor abilities. Children with DS benefit from early involvement in therapy services. This may include physical, occupational, and speech therapy depending on their individual needs. Most children with DS also require additional assistance with learning and an individualized education plan (IEP) in school. The majority of individuals with DS need support as adults with long term medical care, employment, community inclusions and home life assistance.3 Children with DS have every potential to grow from amazing little boys and girls into remarkable adults, leading full lives and actively participating in their community.

Resources

Many families that choose to adopt children with DS have their own personal experience with other individuals with DS, yet there are many other adoptive families that have less familiarity with the condition. Both types of families often benefit from the DS specific resources available in the community including organizations dedicated to provided information and support to families.

Down syndroms is not frequently referred in international adoptions, but is seen worldwide.

People with Down syndrome are delightful children and adults that will benefit from lifelong support for medical and educational needs. Children's Hospital and Clinics of Minnesota's Down Syndrome Clinic.

References

  1. Schaefer GB, Thompson JN. Medical genetics: An integrated approach. New York, NY: McGraw-Hill; 2014.
  2. Bull MJ. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393-406.
  3. Cohen WI, Nadel L, Madnick ME. Down syndrome: visions for the 21st century. John Wiley & Sons; 2003.

 

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Book Author

Judith K. Eckerle, M.D. 
Director, Adoption Medicine Clinic
Assistant Professor of Pediatrics



Co-author

Rebecca Olson, RN, CNP, APNG
Pediatric Nurse Practitioner, Advanced Practice Nurse in Genetics
Children’s Hospitals and Clinics of Minnesota
Down Syndrome Clinic

With assistance from:

Leah Spring
Parent to five children with Down Syndrome

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