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Down Syndrome


What Will You Learn From This Presentation? Causes of Down syndrome. ... 1. No. Nothing the mother (or father) does causes Down syndrome. ... – PowerPoint PPT presentation

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Title: Down Syndrome

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

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.

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

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.

Who Is Affected By Down Syndrome?
  • 1 child in every 800-1,100 births has Down
  • 250,000 people in the U.S. have Down syndrome.

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

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
  • Down syndrome is also referred to as Trisomy 21,
    because of the presence of three number 21

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

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
  • Many people with Down syndrome hold supported
    employment, and frequently live

Special Health Problems Associated With Down
  • 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.

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.

What Extra Medical Care Should These Children
Receive ?
  • Examination by a pediatric cardiologist and
  • Regular vision and hearing exams.
  • Regular medical care including childhood

What Problems Do Infections And Mouth Breathing
  • 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.

Orofacial Features Frequently Associated with
Down Syndrome
  • Underdevelopment or hypoplasia of midfacial
  • Smaller bridge of nose, bones of midface, and
  • Open bite or class III malocclusion.
  • Tongue may protrude and appear too large.

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.

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

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,
  • Delay in the eruption of dentition (Desai, 1997).

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).

Tongue Resection As A Treatment For Symptomatic
  • 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).

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.

Who Has An Increased Risk Of Having A Baby With
Down Syndrome?
  • Parent who already had one child with Down
  • Parent who has a rearrangement involving
    chromosome 21.
  • Mother over 35 years old.

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

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?

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
  • 4. Heart defects, intestinal malformations,
    vision and hearing impairments.

  • Desai, Sindoor (1997) Down Syndrome A Review
    of the Literature. http//
    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,
  • 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.

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.

References Continued
  • The March of Dimes Birth Defects Foundation,
    (1997). Down Syndrome Public Health Educational
    Information Sheet. http//
  • Van Borsel, J., (1988). An analysis of the
    speech of five Downs syndrome adolescents.
    Journal of Communication Disorders, 5, 409-21.