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Fact Sheets

Trisomy 21, also known more commonly as Down Syndrome. Down Syndrome is a genetic disorder in which there is an extra chromosome 21 in the cells (Case-Smith, 2001).

A diagnosis of Down Syndrome may be suspected at birth by physical features but must be confirmed through a karyotype, or a chromosome study (National Association for Down Syndrome, 2005).

A diagnosis may also be determined prenatally via a number of procedures:

• Screening tests
  • At this time the most commonly used screening test is “The Triple Screen.” This is a combination of three tests that measure quantities of various substances in the blood. These tests are usually done between 15 and 20 weeks of gestation.
  • Sonograms (ultrasounds) are usually performed in conjunction with other screenings. These can show some physical traits that are helpful in calculating the risk of Down syndrome.
  • Screening tests do not accurately confirm the diagnosis of Down syndrome. In fact, false positives and false negatives frequently occur.
• Diagnostic Tests
  • Amniocentesis is performed between 12 and 20 weeks gestation.
  • Chorionic Villus Sampling (CVS) is conducted between 8 and 12 weeks.
  • Percutaneous Umbilical Blood Sampling (PUBS) is performed after 20 weeks.

(National Association for Down Syndrome, 2005).

Common Symptoms/Course of Disease

Common features associated with Down Syndrome include:

• Mental impairment
• Low muscle tone
• Hyperflexibility - an excessive ability to extend the joints
• Atlanto - axial Instability - tendency for dislocation to occur between the first and second cervical vertebrae, which may result in spinal cord damage
• Microcephaly – small head
• Flattened facial profile
• Upward slant to the eyes
• Low set ears
• Large tongue in relation to small mouth
• Short and stocky stature
• Protruding abdomen
• Cognitive Impairment
• Single crease across the palm of the hand – “simian” crease
• Short extremities
• Fingers and toes are broad and short

(Case-Smith, 2001)

Medical Conditions:

• Cardiovascular abnormalities
• Obesity
• Gastrointestinal problems
• Hypothyroidism
• Visual deficits (cataracts, strabismus, nystagmus, glaucoma, and refractive errors)
• Auditory deficiencies
• Immune system insufficiency/increased susceptibility to infection
• Increased risk for leukemia
• Sleep apnea
• Dental abnormalities
• Seizures

(Case-Smith, 2001)

For a more descriptive and comprehensive overview of medical conditions go to:
http://www.aafp.org/afp/20010915/1031.html

Development of the child with Down Syndrome compared to other children:

(The Down Syndrome Medical Interest Group, 2002)

Age of Onset: Down Syndrome is a genetic disorder, occurring at conception. It is usually identified at birth or shortly thereafter. The lifespan of individuals with Down Syndrome is fifty-five years and older, with many living into their sixties and seventies (National Association for Down Syndrome, 2005)

Occurrence: Down Syndrome occurs approximately in 1 out of every 800 births. The incidence of Down syndrome increases with advancing maternal age. However, 80% of children with Down syndrome are born to women under 35 years of age (National Association for Down Syndrome, 2005).

Bias: There is no gender, racial, or cultural bias that has been noted at this time (Case-Smith, 2001). Women age 35 and older have a significantly increased risk of having a child with Down syndrome. A 35-year-old woman has a one in 400 chance of conceiving a child with Down syndrome and this chance increases gradually to one in 110 by age 40. At age 45 the incidence becomes approximately one in 35 (National Down Syndrome Society, 2005).

Current Medical Treatment: There is no cure for Down Syndrome however, there are treatments for the associated medical conditions. Congenital heart defects may be surgically corrected and should be closely monitored. Vision and hearing screenings can be performed and deficiencies can be corrected by providing the individual with corrective lenses or hearing aides. If the individual has cataracts, they can be surgically removed and then protective contact lenses or glasses can be worn. Because children with Down Syndrome are susceptible to infections, such as ear infections that may lead to hearing loss, tubes can be surgically placed in the ears in order to drain fluid decreasing risk of infections (Porr, 2001). Currently research is being conducted on Piracetam, a drug thought to improve cognition. There are also some nutritional and vitamin therapies that are being used by some and researched for their effectiveness in improving function.

For more information on these and thorough description of other medical facts, studies and interventions go to:

• http://www.nichd.nih.gov/publications/pubs/downsyndrome/down.htm
• http://www.ndss.org/content.cfm

Occupational Therapy Involvement

Occupational therapists (OT’s) are trained in helping people remediate and adapt to deficits specific to that person to enable them to function at their highest capacity in their environment. OT’s are involved in treating individuals with Down Syndrome throughout their lifespan. At each stage it is important to work closely with and involve the family/caregivers in the treatment to address goals that need to be addressed and to train them to help the individual develop skills needed to be most independent. Specifically OT’s are involved in helping the individual develop the skills and ability to care for themselves (feeding, bathing, dressing, grooming, etc) independently.

OT Interventions in:

• Infancy to Early Childhood/Preschool
  • Family education and training
  • Oral-Motor interventions. (For table on common feeding problems go to http://www.kennedykrieger.org). The infant may have poor muscles in the cheeks, lips, and tongue due to hypotonia, which result in a weak suck. This along with other digestive disorders negatively affect growth and development. Oral stimulation can be performed to help facilitate the muscles needed to help the infant develop a better suck. Non-nutrient oral stimulation (feedbags, washcloths, toothbrush, chew toys, etc) is also of key importance for enriched sensory input.
  • Positioning and feeding techniques. OT’s and Speech Therapist’s can work closely as a team to develop a feeding program that is most beneficial for the infant.
  • Infants with Down Syndrome are usually delayed in development when compared to non-disabled infants. As the infant grows the OT is involved in helping it achieve motor milestones. This can be difficult because hypotonia and hyperflexible joints are very characteristic in individuals with Down Syndrome.
  • Facilitation of postural reactions, gross-motor, and fine-motor development through play, sensory integration, and exercise. OT’s work closely with Physical Therapist’s to achieve these goals. Promoting proximal stability early on, and development of gross motor skills enhances the development of fine motor skills later.
  • Provide the child with opportunity to manipulate clothing and dress self. Practicing with buttons, zippers, and snaps are good for development of fine motor skills as well as self-feeding.
  • Toys that encourage reaching, grasping, and in-hand manipulation (such as balls, blocks, puzzles, crayons, playdough, learning to cut with scissors, etc.) may be used for sensory enrichment and gross and fine-motor development.
  • A child with Down Syndrome may require special adaptive equipment that may also be evaluated and administered by the OT. This not only includes adaptive equipment for physical limitations but also for visual and auditory deficits.
  • OT’s work closely with the family and with other professionals (SLP’s and PT’s) through early intervention. Developing independent mobility, self-care skills (bathing, dressing, feeding, and toilet training), increasing strength and endurance, and increasing fine motor skills are key for this time.
• School Age to Adolescence
  • At this time it is likely that the individual will receive OT through the school system to focus on educational goals. The focus of OT will really be dependent upon the individual, as each will vary. Intervention in the school requires also collaboration with other team members and specifically the teacher. Educating other professionals of goals and strategies is beneficial for consistency.
  • The OT may work with the child at home or in the community. Interaction with peers is beneficial to enhance social-emotional development and prepare for school.
  • Continuation of fine motor development will be addressed for handwriting, typing, cutting, eating, and backpack/school book and clothing management.
  • Adaptive devices to help the child be more successful may also be used (i.e. special grips for writing utensils, etc.). The OT may also need to use positioning devices for the child, or a special desk, due to their characteristic small statures.
  • OT may incorporate attention/memory training programs, or teach compensatory strategies to help the child function at a higher level. Behavioral and/or social skills interventions may also be instituted. Techniques for adaptation or compensation may also be needed for low vision, hearing deficits, and/or communication problems.
  • During later school years and adolescence the OT may be involved in future planning. Setting goals and planning for vocational training, higher education, or other individual preferences.
• Adulthood and Later Life
  • After finishing highschool OT’s may work with individuals with Down Syndrome in community based settings such as vocational training, sheltered workshops, and/or group homes.
  • Mental Retardation is very common in individuals with Down Syndrome but is usually only mild to moderate. Sheltered workshops provide the individual with meaningful activities to enhance participation in society and learn new skills. Vocational training centers teach the specific skills needed to perform a job and enable to the individual to work and earn money. OT’s in these areas can perform activity analysis’s to find compatible jobs for the individual and/or identify skill areas that the individual needs to learn to perform the task. OT’s may also train the individuals to perform these tasks or adapt the task to the individual. Other areas that may be addressed by the OT to help the individual be more independent are money management, home management, and leisure pursuits.

References

• Bruni, M. (2001) Occupational Therapy and the Child with Down Syndrome. Available at:
  http://www.ds-health.com/occther.htm
• Case-Smith, J. (2001). Occupational therapy for children. (4th ed.) St. Louis: Mosby, Inc. p.170
• Down Syndrome Medical Interest Group. “Child Development.” Available at:
  http://www.dsmig.org.uk/publications/pchrchdev.html
• Keepkidshealthy.com. “Down Syndrome in Children” Available at:
  http://www.keepkidshealthy.com/welcome/conditions/downsyndrome.html
• National Association for Down Syndrome. “Down Syndrome Facts.” Available at:
  http://www.nads.org/pages/facts.htm
• National Down Syndrome Society (2005). Available at:
  http://www.ndss.org/content.cfm
• Porr, S.M. (1999) The Visual and Auditory Systems. In Porr, S.M., and Rainville, E.B. Pediatric Therapy: A Systems Approach. (pp. 22-60). Pennsylvania: Philadelphia.

How OT Makes a Difference: Evidence-Based Practice

Edwards, S. (1998). Hand function of children with down’s syndrome. Developmental Disabilities, Special Interest Section Quarterly, American Occupational Therapy Association, 21.

This article discusses hand function in children with Down’s syndrome and the implications on handwriting that certain physical characteristics create in these children. The article stresses that hypotonicity, which is often seen in children with Down’s syndrome, is often a major hindrance in the stability that is needed to manipulate objects utilizing fine motor skills. The article outlines many activities that would be useful in the development of fine motor hand control and offered ideas for communicating with parents and teachers. A variety of assessments ranging from the Peabody Development Motor Scale to the Toddler and Infant Motor Evaluation (TIME) are outlined for therapists treating children with Down syndrome.

Uyanik, M. (February 1, 2003) Comparison of different therapy approaches in children with Down Syndrome. Pediatr Int; 45(1): 68-73.

Children with Down Syndrome often have sensory integration dysfunction and this study was performed to find the most effective therapeutic treatment. The researchers compared the use of sensory integrative therapy alone, sensory integrative therapy paired with vestibular stimulation, and neurodevelopmental therapy alone to treat children with Down Syndrome. The results of this study found that all treatments were effective and stressed the importance of using the most effective treatment for the individual.

Anecdotal Reports

Sarah was the second child to be born in her family. The pregnancy was uneventful except for her mother acquiring gestational diabetes. At birth Sarah had several heart defects that her mother said made the diagnosis of Down Syndrome seem minor. Fortunately, Sarah did not have to undergo surgery to correct her heart defects, they repaired themselves with time. When it was time for her to go home her parents recall how fragile she was and how nervous it made them.

Sarah began receiving services through early intervention in her home. Sarah was delayed in her motor development and speech. The occupational worked with Sarah and her family, teaching them ways that they could handle and play with her to help her develop. When Sarah turned three she was moved into a special education preschool and received occupational therapy three times a week. Sarah was now beginning to catch up developmentally with her peers.

Sarah is now six and in a mainstream classroom. Still receiving occupational therapy, Sarah loves to draw and write letters to her cousins. Her mother is very thankful for the services that Sarah received and feels that Sarah would not be functioning at the level she is today if she did not have them. Her mother stated that early intervention is the best thing that ever happened to children with Down Syndrome.

* name was changed for confidentiality purposes

Client Handout

• Handwriting Assistance Handout (PDF File)

Web Links

• National Down Syndrome Society
  http://www.ndss.org/content.cfm
  This comprehensive site offers basic information about Down syndrome as well as current research, advocacy center and community services. Information on grant applications is also a plus for this website.
• Down Syndrome Information Network - Home Page
  http://www.down-syndrome.info/
  This website offers a wealth of information on Down syndrome. It offers an on-line library, current research, news and topics, news and events, and a discussion list. It also gives access to other sites and conveniently gives the reader over 1,000 pages of health information.
• Down Syndrome Quarterly
  http://www.denison.edu/dsq/
  This website offers a more educational approach to research and information on Down syndrome. Down Syndrome Quarterly is an interdisciplinary journal that devotes its publication to all aspects of Down syndrome including: medical, behavioral, and social scientific research.
• The Down's Syndrome Medical Interest Group
  http://www.dsmig.org.uk/
  Although this site is dedicated to educating healthcare professionals on best practice techniques for Down syndrome, a parent information section is offered. It also includes a medical library, DSMIG resources and other helpful links. This site was developed for UK and Ireland health professionals.