Down Syndrome

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Down Syndrome

• Molly M. Zimmerman, B.A.
• University of Pittsburgh
• Department of Communication Science and Disorders
• key words Down syndrome, orofacial anomalies

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Author Information

• This lecture was authored by Molly M. Zimmerman,
  an advanced graduate student in the University of
  Pittsburgh Department of Communication Science
  and Disorders, School of Health and
  Rehabilitation Sciences. The presentation was
  prepared as a term assignment for the graduate
  course Cleft Palate and Craniofacial Disorders,
  taught by faculty member Ellen R. Cohn Ph.D.
  (ecohn_at_pitt.edu).

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Author Information Continued

• Molly Zimmerman is a graduate of the University
  of Pittsburgh. Her clinical interests include
  adult rehabilitation as well as acute and
  sub-acute care. However, she would like to
  further explore her interests in child speech and
  language therapy. Mollys interest in the
  lecture topic resulted from her desire to learn
  more about the causes and effects of Down
  syndrome.

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What Will You Learn From This Presentation?

• Causes of Down syndrome.
• Characteristics of Down syndrome.
• Medical concerns associated with Down syndrome.
• Basic effects on speech.

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Who Is Affected By Down Syndrome?

• 1 child in every 800-1,100 births has Down
  syndrome.
• 250,000 people in the U.S. have Down syndrome.

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What Causes Down Syndrome?

• Normally, each egg and sperm cell contains 23
  chromosomes.
• The union of these creates 23 pairs, or 46 total
  chromosomes.
• Occasionally, an egg or sperm cell does not
  develop properly and contributes 24 chromosomes
  instead of 23.

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What Causes Down Syndrome? (cont.)

• Down syndrome results if the extra chromosome is
  number 21.
• The features of Down syndrome result from having
  an extra chromosome 21 in each of the bodys
  cells.
• Down syndrome is also referred to as Trisomy 21,
  because of the presence of three number 21
  chromosomes.

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What Does A Child With Down Syndrome Look Like?

• May have eyes that slant upward.
• Small ears that may fold over at the top.
• Small mouth, making the tongue appear large.
• Small nose, with a flattened nasal bridge.
• Some babies may have short necks, small hands,
  and short fingers.
• Adults are often short with unusually limber
  joints.

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How Will Children With Down Syndrome Develop
Compared To Other Children?

• Children with Down syndrome can do most things
  that any young child can do, such as walking,
  talking, dressing, and being toilet trained, but
  usually develop later than other children.
• Down syndrome usually results in some degree of
  mental retardation, the degree of which varies
  widely. However, many will learn to read and
  write.
• Many people with Down syndrome hold supported
  employment, and frequently live
  semi-independently.

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Special Health Problems Associated With Down
Syndrome

• Heart defects occur in 30-50.
• Intestinal malformations requiring surgery occur
  in 10-12.
• Visual and hearing impairments occur in gt 50.
• Thyroid problems, adult onset leukemia, epilepsy,
  diabetes, and Alzheimer's occur more frequently.

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Special Health Problems Associated With Down
Syndrome (cont.)

• Higher rate of infections due to compromised
  immune system and decrease in number of T cells.
  
• Dry mouth caused by mouth breathing associated
  with upper respiratory infections.
• Periodontal disease accelerated by increased
  number of infections.

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What Extra Medical Care Should These Children
Receive ?

• Examination by a pediatric cardiologist and
  echocardiogram.
• Regular vision and hearing exams.
• Regular medical care including childhood
  immunizations.

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What Problems Do Infections And Mouth Breathing
Cause?

• Higher incidence of periodontal disease.
• Chronic dry mouth (xerostomia) and fissuring of
  tongue and lips.
• Apthous ulcers, oral candida infections, and
  acute necrotizing ulcerative gingivitis.

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Orofacial Features Frequently Associated with
Down Syndrome

• Underdevelopment or hypoplasia of midfacial
  region.
• Smaller bridge of nose, bones of midface, and
  maxilla.
• Open bite or class III malocclusion.
• Tongue may protrude and appear too large.

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Orofacial Features Frequently Associated With
Down Syndrome (cont.)

• Sides of the hard palate are abnormally thick,
  but it gives the appearance that the palate is
  narrow with a high vault (Pilcher, 1998).
• Occasionally palatal cleft-like folds are found
  (Desai, 1997).
• Reduced degree of muscle tone in lips and cheeks.

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Effects Of Orofacial Features

• Small nasal passage contributes to mouth
  breathing.
• Less space in oral cavity for tongue effecting
  speech, mastication, and natural cleansing of
  teeth.
• Force of tongue greater than force of teeth
  causing class III malocclusion.

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Dental Anomalies In Individuals With Down Syndrome

• Microdentia occurs in 35-55 (Desai, 1997).
• Hypoplasia and Hypocalcification are common
  (Desai, 1997).
• Congenitally missing teeth (partial anodontia)
  occur in 50 of people with Down syndrome (Desai,
  1997).
• Delay in the eruption of dentition (Desai, 1997).

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Effects On Speech

• Expressive language of children with Down
  syndrome is commonly more delayed than receptive
  language (Desai, 1997).
• Contributing factors to expressive language delay
  include mental deficiency, relatively large
  tongue in a small oral cavity, excessive
  salivation, poor oral closure, dry and thickened
  mucous, dental anomalies, hypotonia, hearing
  problems, aphasia.
• Disordered articulation in children with down
  syndrome reflects a delay in speech development
  similar to that of normal children (Borsel, 1988).

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Tongue Resection As A Treatment For Symptomatic
Macroglossia

• Tongue reduction surgery has no effect on the
  articulation of sounds (Parsons et al., 1987).
• Partial glossectomy increases aesthetic
  appearance of speech, but has little or no effect
  on speech intelligibility (Klaiman et al., 1988
  Margar-Bacal et al., 1987).
• Tongue resection improved deglutition and reduced
  drooling (Siddiqui Pensler, 1990).

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Is There A Cure For Down Syndrome?

• No, there is no cure.
• It cannot be prevented
• Scientists do not know why problems involving
  chromosome 21 occur.
• Down syndrome is not caused by anything either of
  the parents did or did not do.

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Who Has An Increased Risk Of Having A Baby With
Down Syndrome?

• Parent who already had one child with Down
  syndrome.
• Parent who has a rearrangement involving
  chromosome 21.
• Mother over 35 years old.

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Can Down Syndrome Be Diagnosed Prenatally?

• Yes, it can be diagnosed or more likely ruled
  out.
• Alpha fetoprotein (AFP) blood test, a screening
  test, can be done around the 16th week of
  pregnancy.
• Amniocentesis or chorionic villus sampling are
  the most reliable tests used, but should be used
  cautiously due to the risks associated with them.

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A Quiz To Test Your Understanding

• 1. Is Down Syndrome caused by something the
  mother does during pregnancy?
• 2. Can Down Syndrome be prevented?
• 3. What factors contribute to mouth breathing?
• 4. What are some of the health problems
  associated with Down Syndrome?

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Check Your Understanding

• 1. No. Nothing the mother (or father) does
  causes Down syndrome.
• 2. No. Down syndrome cannot be prevented.
• 3. Mouth breathing occurs due to small nasal
  passages and high incidence of respiratory
  infections.
• 4. Heart defects, intestinal malformations,
  vision and hearing impairments.

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References

• Desai, Sindoor (1997) Down Syndrome A Review
  of the Literature. http//altonweb.com/cs/
  downsyndrome/desai.html (7/20/99)
• Klaiman, P., Witzel, M.A., Marger-Bascal, F.,
  Munro, I.R., (1988). Changes in aesthetic
  appearance and intelligibility of speech after
  partial glossectomy in patients with Down
  syndrome. Plastic Reconstructive Surgery, 3,
  403-8.
• Margar-Bacal, F., Witzel, M.A., Munro, I.R.,
  (1987). Speech intelligibility after partial
  glossectomy in children with Downs syndrome.
  Plastic Reconstructive Surgery, 1, 44-9.

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References Continued

• Parsons, CL., Iacono, TA., Rozner, L., (1987).
  Effect of tongue reduction on articulation in
  children with Down Syndrome. American Journal of
  Mental Deficiency, 4, 328-32.
• Pilcher, E., (1998). Dental care for the patient
  with Down syndrome. The Down Syndrome
  Educational Trust, 5(3), 111-116.
• Siddiqui, A., Pensler, J.M., (1990). The
  efficacy of tongue resection in treatment of
  symptomatic macroglossia in the child. Annals of
  Plastic Surgery, 1, 14-7.

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References Continued

• The March of Dimes Birth Defects Foundation,
  (1997). Down Syndrome Public Health Educational
  Information Sheet. http//www.noah.cuny.edu/pregn
  ancy/march_of_dimes/birth_defects/downsynd.html
  (7/20/99)
• Van Borsel, J., (1988). An analysis of the
  speech of five Downs syndrome adolescents.
  Journal of Communication Disorders, 5, 409-21.