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DOWN SYNDROME

Background
Medical Management Considerations
Oral Health Considerations
References
Resources for Families
Advisory Committee
Publication Information

Learning Points

  • Restate the incidence of Down syndrome (1 in 800 live births).
  • Recognize seven characteristic features of Down syndrome; e.g.,
    • Mental retardation
    • Developmental delays
    • Hypotonia
    • Small brachycephalic head
    • Flattened mid-face
    • Small cup-shaped ears
    • Small mouth with protuberant tongue
  • Describe the importance of annual dental care exams and cleanings and caries risk assessment for patients with Down Syndrome.
  • Explain the importance of children with congenital heart disease receiving antimicrobial prophylaxis before dental procedures.
  • Recommend annual thyroid function tests for patients with Down Syndrome.
  • Refer families to appropriate resources on Down Syndrome.

BACKGROUND
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Description and Causes

Down Syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation. It is caused by abnormality of cell division during miosis, called nondisjunction, which affects the 21st chromosome and results in trisomy 21 (93-96%), translocation (3-4%) or trisomy 21 mosaicism (1-2%).

Occurrence

  • 1:800 live births
  • The occurrence of Down Syndrome increases with increased maternal age.

Characteristic Features

  • Mental retardation
  • Developmental delays
  • Hypotonia
  • Small brachycephalic head
  • Flattened mid-face
  • Small cup-shaped ears
  • Small mouth with protuberant tongue
  • Epicanthic folds
  • Brushfield spots
  • Wide space between first and second toe
  • Excess folds of skin on back of neck
  • Shortened limbs, hands and fingers
  • Clinodactyly fifth digit
  • Single transverse palmar crease

Common Associations

  • Hearing deficiency (75%)
  • Otitis media (50-70%)
  • Eye disease (strabismus, cataracts, nystagmus, severe refractive errors) (60%)
  • Congenital heart disease (50%)
  • Thyroid disease (15%)
  • Gastrointestinal atresia (12%)
  • Cervical spine abnormality (10%)
  • Seizure disorders (5-10%)
  • Acquired hip dislocation (6%)
  • Hematologic cancers (leukemia, lymphoma)
  • Obesity
  • Psychiatric and behavioral problems

MEDICAL MANAGEMENT CONSIDERATIONS
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Note: These considerations are in addition to the normal medical care provided to an individual without Down Syndrome. All recommendations can be addressed through clinical examination by the primary care provider, unless otherwise noted. Referrals to specialists should be made as appropriate.

Infancy (Birth to 1 year)

  • Perform complete physical and neurological exam to detect congenital anomalies
  • Perform chromosome analysis (karyotype)
  • Provide genetic counseling, including a discussion of recurrence risk
  • Screen for thyroid dysfunction (sensitive TSH) at 6 months and 1 year
  • Assess cardiac function (echocardigram)
  • Screen for hematologic cancers (CBC)
  • Screen hearing at birth (otoacoustic emission (OAE) or brainstem auditory evoked response (BAER))
  • Check eyes for strabismus, cataracts and nystagmus by 6 months (clinical examination by primary care provider, or refer to opthalmologist)
  • Refer to an oral health professional for evaluation and recommend an oral health assessment by age 1
  • Schedule routine immunizations, including those for hepatitis B, influenza, and pneumococcal disease
  • Refer to early intervention programs and Down Syndrome/disability support groups
  • Discuss possibility of SSI enrollment

Early Childhood (1 to 5 years)

  • Screen for thyroid dysfunction (sensitive TSH) annually
  • Assess hearing annually
  • Assess vision annually
  • Reassess cardiac function annually
  • Recommend well-balanced, high fiber diet
  • Recommend the establishment and communication about an oral health care plan, including the engagement of caregivers in daily disease prevention practices as needed.
  • Recommend and arrange for annual dental care exams and cleanings and caries risk assessment as needed (note: children with congenital heart disease should receive antimicrobial prophylaxis before dental procedures)
  • Monitor school placement
  • Monitor speech and language progress
  • Play program for socialization and exercise

Late Childhood (5 to 13 years)

  • Screen for thyroid dysfunction (sensitive TSH) annually
  • Reassess vision annually
  • Reassess hearing annually
  • Monitor height and weight, discuss obesity risk
  • Assess self-care skills
  • Obtain cervical spine film (lateral x-ray of neck in flexion and extension) to rule out atlanto-axial instability
  • Monitor for obesity
  • Monitor school progress
  • Monitor speech and language progress
  • Monitor oral health status, caries risk, and nutrition
  • Encourage active play and regular exercise and participation in sports

Adolescence (13-18 years)

  • Screen for thyroid dysfunction (sensitive TSH) annually
  • Reassess vision every 2 years
  • Reassess hearing every 2 years
  • Watch for signs of atlanto-axial instability
  • Discuss sexuality and socialization
  • Recommend regular exercise and nutrition counseling
  • Monitor oral health status and caries risk
  • Monitor for obesity
  • Reinforce importance of self-care skills
  • Discuss long-term financial plans
  • Discuss alternative community living resources
  • Monitor prevocational training
  • Discuss community-supported employment opportunities

Adulthood (18 years and over)

  • Screen for thyroid dysfunction (sensitive TSH) annually
  • Reassess vision every 2 years
  • Reassess hearing every 2 years
  • Recommend regular exercise and nutritional counseling
  • Monitor for obesity
  • Monitor for behavioral changes/loss of skills
  • Monitor for mental health problems
  • Monitor oral health status and caries risk
  • Monitor for symptoms of dementia, including Alzheimer’s disease
  • Monitor vocational activities

ORAL HEALTH CONSIDERATIONS
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A thorough knowledge of the dental implications of Down Syndrome will aid a primary care provider and dental practitioner in preventing dental problems and providing the most appropriate treatment. Treatment options and limitations, as well as daily measures to take to prevent dental problems and maintain oral health, should be clearly explained to persons with developmental disabilities and their families/caregivers. Dental caries is an infectious and transmissible disease. Every person should have an oral health care plan by age 1 to prevent early childhood caries and later periodontal disease.

Dental Conditions Associated with Down Syndrome

  • Great risk of severe periodontal disease (90-96%); this may be related to the reduced immunologic response to infections and inflammatory disease but is exacerbated by the typical occurrence of short conical tooth roots. It does not take much periodontal bone loss to result in tooth loss.
  • Increased risk of acute necrotizing ulcerative gingivitis (ANUG)
  • Crowded dentition
  • Peg-shaped anterior teeth
  • Lack of root resorption in primary teeth
  • Incidence of high frenum attachment
  • Fetid breath (rare)
  • Short conical roots
  • Microdontia (small teeth), hypodontia (fewer than normal teeth)
  • Malocclusion (Class III), primarily due to small maxilla
  • Tongue thrust
  • Protruding tongue and mouth breathing due to small maxilla and nasal passages and consequent mouth breathing
  • Fissured tongue
  • Narrow palate
  • Delayed eruption of teeth
  • Impaired masticatory function
  • Bruxism (compulsive grinding or clenching of the teeth)
  • Drooling (occasional)
  • Self-injurious behavior
  • Decreased risk of dental decay

Dental Management

Managing the preventive, restorative, and surgical aspects of dental treatment involve an early (by age 1) and regular oral health evaluation and the establishment of a customized oral health care plan. Practitioners should educate parents/caregivers on optimal oral hygiene practices and on the limitations of dental care and prosthetic treatment choices.

Clinical Considerations

  • Document development of periodontal disease, especially bone loss and pocket formation.
  • Consider approaches to address periodontal disease:
  • Emphasis of home care procedures (below)
  • Frequent cleaning and scaling procedures
  • Antimicrobial agents under the supervision of a periodontist
  • Surgical periodontal treatment under the supervision of a periodontist
  • To facilitate communication with the patient,
  • Use a gradual introduction to new dental procedures
  • Proceed slowly
  • Use positive reinforcement, verbal praise and reassurance
  • Minimize distractions
  • Use short explanations and simple language
  • Take time to present information
  • Reinstruct/re-explain information
  • Consider patients social age
  • Teach activities rather than concepts
  • Demonstrate oral hygiene procedures
  • Allow patient to practice procedures
  • Use consistency (i.e., same practitioners, same room/chair for each visit)
  • If the guidelines above do not succeed in establishing communication, other options include
  • Temporary restraints/protective devices/mouth prop (used to prevent unwanted physical movement related to a patient’s condition or to allow treatment when other techniques fail)
  • Sedation (often to reduce anxiety or fear); papatient’s restricted nasal passages may prevent the use of nitrous oxide
  • General anesthesia (only when other methods of behavior modification fail; used in a hospital setting)
  • Prosthesis treatment choices may be limited due to periodontal disease, tooth mobility, lack of patient cooperation, and/or Class III malocclusion.
  • Consider acrylic veneers instead of porcelain in fixed prostheses if anterior teeth are repeatedly traumatized and repaired.
  • Since patients may be receiving anti-epileptics, medications for spasticity, and/or other drugs, consider drug interactions prior to using additional medications, sedatives, or anesthetics.
  • Preventive measures include topical fluoride applications, dietary counseling, sealants, and periodic professional prophylaxis.

At-Home Care

  • Establish good daily oral hygiene procedures including plaque removal by brushing and flossing.
  • Modify usual methods of brushing/flossing teeth for individuals who cannot perform these procedures in the usual manner.
  • If patient will not cooperate with brushing, teach caregiver to use desensitization by starting with some wet gauze or a washcloth on the mouth and gradually moving to a soft, dry toothbrush, then a wet toothbrush, and finally a toothbrush with toothpaste.
  • Modify toothbrush, use specially designed toothbrushes or floss holders with modified handles to facilitate grasping. A toothbrush or floss holder handle can be modified to make it easier to grasp by pushing the handle through a rubber ball or by attaching the handle to a bicycle grip with plaster of Paris.
  • Instruct caregivers to position the individual on a couch with their head in the caregivers lap to assist the individuals needing help to remove plaque. Use a lightly moistened brush without toothpaste and use a floss holder for patients who cannot rinse/expectorate or perform these procedures themselves.
  • Promote diet that does not increase the risk of dental decay.
  • Consider diet counseling for a patient with significant tooth decay.
  • Consider diet consistency and sugar content of liquid medications.
  • Avoid prolonged use of bottles containing fermentable carbohydrates and provide instructions to never put a child to sleep with a bottle containing fermentable carbohydrates.
  • Use fluoridated water and toothpaste. Recommend daily fluoride tablets or drops if water supply does not contain recommended amount of fluoride
  • Use gum, mints, or foods containing Xylitol as the primary sugar to reduce caries.
  • Use antimicrobial (Chlorhexidine) mouthwash or spray as an adjunct for some individuals with rampant caries and gingivitis.
    [Return to the index for a full document on Dental Care]

REFERENCES
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Peer-reviewed Journal Articles/Academies

American Academy of Pediatrics, Committee on Genetics. (1994). Health Supervision for Children With Down Syndrome. Pediatrics, 93(5), 855-859.

Chicoine, Brian., et al. (1995). Use of the Community-Oriented Primary Care Model for a Special Population: a Clinic for Adults with Down Syndrome. American Journal of Public Health, 85(6), 869-870.

Fonseca, C.T. et al. (2005). Insulin resistance in adolescents with Down syndrome: a cross-sectional study. BMC Endocrine Disorders, 5(6).

Kaminska H, et al. (2005). Endocrinologic Problems in children with Down Syndrome. Przeglad Lekarski, 62(1), 65-67.

Melville, C.A. (2005). Obesity in adults with Down Syndrome: a case-control study. Journal of Intellectual Disabilities Research, 49(2), 125-133.

O’Niell, K.L., et al. (2005). Child-Feeding Practices in Children with Down Syndrome and Their Siblings: The Journal of Pediatrics, 146, 234-238

Pueschel, S.M. et al. (1995). International League of Societies for Persons with Mental Handicap, Guidelines for optimal medical care of person with Down Syndrome. Acta Paediatrica, 84(7), 823-827.

Roizen, N.J. (2002). Medical Care and Monitoring for the Adolescent with Down Syndrome: Adolescent Medicine, 13(2), 345-358.

Saenz, R.B. (1999). Primary Care of Infants and Young Children with Down Syndrome. American Family Physician, 59(2), 381.

Special Interest Groups/Other Publications

Capute, A.J., Accardo, P.J. (1996). Developmental Disabilities in Infancy and Childhood vol. I: Neurodevelopmental Diagnosis and Treatment. Baltimore: Paul H. Brookes Publishing Co., Inc.

Capute, A.J., Accardo, P.J. (1996). Developmental Disabilities in Infancy and Childhood vol II: The Spectrum of Developmental Disabilities. Baltimore: Paul H. Brookes Publishing Co., Inc.

Down Syndrome Medical Interest Group. (Ed.) Cohen, William I. MD. (1996). Health Care Guidelines for Individuals with Down Syndrome. Down Syndrome Quarterly, 1(2).

Down Syndrome Physician Interest Group. (1995). Down Syndrome Preventive Medicine Check List. East Bay Area Down Syndrome Physician Interest Newsletter, 1, 1-7.

National Down Syndrome Congress. Healthwatch for the Person with Down Syndrome II. Accessed December 12, 2005.

Southern Association of Institutional Dentists. (2001). Module 3: Down Syndrome – A Review for Dental Professionals. Modules. Accessed December 13, 2005.

University of Florida, College of Dentistry, Department of Pediatric Dentistry. (2001). “Trisomy 21 (Down Syndrome).” Oral Health Care for Persons with Disabilities. Accessed April 22, 2003.

RESOURCES FOR FAMILIES
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American Dental Association
312-440-2500

Tips for People Who Have Special Needs

Association for Children with Down Syndrome, Inc.
516-221-4700

California Department of Developmental Services
916-654-1690

California Regional Centers
916-654-1958

Exceptional Parent Magazine
800-247-8080

March of Dimes Birth Defects Foundation
914-428-7100

National Association for Down Syndrome

National Down Syndrome Congress
800-232-6372

National Down Syndrome Society
800-221-4602

National Oral Health Information Clearinghouse
301-402-7364
TTY 301-656-7581

National Oral Health Information Clearinghouse
Oral Conditions in Children with Special Needs, A Guide for Health Care Providers

Riverbend Down Syndrome Parent Support Group

Southern Association of Institutional Dentists

Special Care Dentistry 312-440-2660

Special Olympics Special Smiles

A Guide to Good Oral Health for Persons with Special Needs

University of Florida, College of Dentistry, Department of Pediatric Dentistry
Oral Health Care for Persons with Disabilities

University of the Pacific, School of Dentistry
Center for Oral Health for People with Special Needs

or Community Programs

ADVISORY COMMITTEE
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Theodore A. Kastner, M.D., M.S.
Felice Weber Parisi, M.D., M.P.H.
Mary Ann Lewis, Dr.P.H., R.N., F.A.A.N.
Larry Yin, M.D., M.S.P.H., F.A.A.P.

PUBLICATION INFORMATION
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This document does not provide advice regarding medical diagnosis or treatment for any individual case, and any opinions or statements contained in this document are not intended to serve as a standard of medical care. Physicians are encouraged to view the considerations presented in this document in light of evolving scientific information. This document is not intended for use by the layperson. Reproduction of this document may be done with proper credit given to California Department of Developmental Services.

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