DOWN SYNDROME UPDATE 2009 - PowerPoint PPT Presentation


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Down syndrome (as we know it today) has existed since the beginning of humankind. ... to directly and indirectly affect learning and memory in Down syndrome by ... – PowerPoint PPT presentation

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  • Tamison Jewett, MD
  • Wake Forest University Health Sciences

Down syndrome (as we know it today) has existed
since the beginning of humankind.
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Down syndrome the history we know
  • First described in the medical literature by Dr.
    John Langdon Down in England in 1866
  • In 1956, scientists discovered that the typical
    human cell has 46 chromosomes
  • In 1958, Lejeune discovered that the cells from
    an individual with DS had an extra chromosome 21
  • In 1959, 9 people with DS were found to have an
    extra chromosome 21

Down syndrome--features
  • Brachycephaly
  • Excess nuchal skin
  • Hypoplastic midface
  • Upslanting palpebral fissures
  • Small ears w/ overfolded helices

Down syndrome features (cont.)
  • 5th finger clinodactyly
  • Wide gap between 1st and 2nd toes
  • Single transverse palmar crease(s)(40)
  • Heart defect in 40
  • Fine, soft hair

  • It is important to remember that individuals with
    DS look mainly like their families it is the
    characteristic pattern of features that causes
    them to resemble one another.

  • a recognizable pattern of features, usually
    owing to a specific cause, e.g., Down syndrome,
    wherein the cause is extra chromosome 21 material

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NOR, acrocentic
Sex chromosomes
Ideogram of the human chromosomes
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  • Abnormal cell division leading to abnormal
    chromosome distribution can occur in EITHER
    PARENT. As women age, our risk for this to occur
    increases, as follows
  • Maternal Age Incidence of DS at delivery
  • 15-29 1 in 1500
  • 30-34 1 in 800
  • 35-39 1 in 270
  • 40-44 1 in 100
  • 45 and over 1 in 50

Robertsonian Translocations
Can result in Down syndrome
Down syndrome
  • occurs in 1650 live births
  • The underlying causes
  • 94 due to nondisjunction (unequal cell division)
    resulting in 47 chromosomes with an extra 21
  • 3.3 due to an unbalanced translocation
  • 2.4 are mosaic (some cells have the typical 46
    chromosomes, and some have 47)
  • 21

Extra chromosomes mean extra genes.
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DNA and chromosomes are related, but are not the
The genes of chromosome 21 what do we know?
  • There are more than 400 genes on chromosome 21
    (we used to think there were fewer)
  • Of these, 170 code for proteins that are also
    encoded by genes in mice and other animals
  • When genes are conserved across species, it is
    typically because they are important

Chromosome 21 proteins
  • Are predicted to directly and indirectly affect
    learning and memory in Down syndrome by
  • Preventing estrogen from entering brain cells
    (low estrogen in brain can promote early
    menopause and Alzheimer disease)
  • Reducing substances that allow cells to
    communicate with one another
  • Reducing brain cell survival in the adult

Studying chromosome 21 genes across species
allows us to
  • Understand the roles of these genes in normal
    development and function
  • Learn how the proteins encoded by these genes
    interact with other proteins in the body
  • Predict ways in which the extra information
    encoded by these genes can be turned down or
    turned off by medications, gene therapy, etc.

Whats new in the past year?
Alternative Therapies for Children with Down
Alternative therapies--history
  • 1960s Henry Turkel, MD, claimed that a mixture
    of 48 ingredients could improve the intelligence
    of children with DS, which he administered to his
    patients for more than 40 years. No double-blind
    study was ever performed. No evidence emerged
    that this was beneficial.

Alternative therapies history (cont.)
  • 1980s Ruth Harrell, MD, and associates
    reported that supplementary vitamins and minerals
    and thyroid hormone improved IQ scores and
    normalized physical appearance in children with
    mental deficiency. Reportedly, 3 children with
    DS showed the best results. The study was not
    performed scientifically, and 7 studies performed
    in the next decade using this mixture showed no

Alternative therapies history (cont.)
  • 1980s HapsCaps, another mixture of vitamins,
    minerals, and supplements was promoted through
    traveling clinics run by Jack Warner, MD, of

Alternative therapies history (cont.)
  • 1995 ABC-TVs Day One promoted a formula
    created by Dixie Lawrence Tafoya, owner/operator
    of an adoption agency specializing in finding
    homes for special needs children. Her formula
    was based on Turkels formula but had more
    ingredients. Subsequently, piracetam was added.

Dixie Lawrence (cont.)
  • Arranged for her formula to be produced by
    Nutri-Chem Labs in Canada (MSB Plus)
  • 1996- Lawrence withdrew support from Nutri-Chem
    and began promoting NuTriVene-D marketed by
    International Nutrition in Baltimore (MSP Plus is
    made there, also)

Do children with Down syndrome truly need
  • Thus far, there is little-to-no evidence that
    supplements of vitamins, minerals, amino acids,
    anti-oxidants, digestive enzymes, or fat
    supplements provide benefit to individuals with
    Down syndrome, and megadoses of vitamins may do
  • Selenium supplementation may improve certain
    indicators of immune function, but evidence is

Beware of false claims
  • Speculations are stated as fact, e.g., children
    with DS are retarded because of overexpression of
    superoxide dismutase
  • Questionable claims of benefit, e.g., normalizing
    growth and facial features
  • Targeted nutrition no blood tests done
  • Anecdotal evidence I have a different child

The bottom line
  • The American College of Medical Genetics, the
    National Down Syndrome Society and others caution
    parents that the above-mentioned supplements have
    not been shown to be of benefit and the effects
    of ongoing administration of these agents are
    unknown. Parents are warned about spending large
    sums of money on these treatments when there is
    no evidence for benefit.

The latest
  • Changing Minds Foundation is promoting a new
    treatment for Down syndrome that leads to life
    changing results.
  • Treatment includes regular doses of fluoxetine
    (Prozac), Dexmethylphenidate (Focalin XR), and
    ginkgo biloba as well as Body Bio Balanced Oil
    and folinic acid.
  • A group out of Texas founded by husband and
    wife cosmetic dentists who have a child with DS.
    Go to for more
    info. and to view video.

What are these drugs?
  • Ginkgo biloba (GB) an herb that has been used
    medicinally for millennia, GB is a GABA
    antagonist. Supporters of its use in DS say that
    it promotes improved memory. No controlled
    studies have been done in animals or humans to
    establish safe doses or to prove a benefit.
  • Fluoxetine (Prozac) an antidepressant that in DS
    mice increased the growth of new nerve cells.
    Not replicated in humans and can do harm to

What are these drugs? (cont.)
  • Dexmethylphenidate (Focalin XR) a stimulant
    medication used to treat ADHD. Its use should be
    carefully considered in children with heart
    defects, and it is not recommended in babies and
    young children.
  • Folinic acid has vitamin activity similar to
    folic acid (B vitamin) and has been proven to
    have no significant effect on development in
    children with DS

What is
  • Body Bio Balanced Oil per the Changing Minds
  • There is a growing body of evidence that
    inflammation and degeneration go hand in hand.
    This oil provides the body with building blocks
    to reduce inflammation and improve health.
  • 26.35 for 180 softgels for non-members

A statement
  • has been issued in response to the above
    claims of The Changing Minds Foundation stating
    that there is no evidence to support the use of
    this protocol in people with Down syndrome of any
    agenor is there evidence that this protocol is
    safe for routine use for people who have Down
  • Endorsed by numerous scientists, clinicians,
    and the National Down Syndrome Congress and the
    National Down Syndrome Society

Autism in Down Syndrome
Autism definition
  • Develops prior to 3 years of age
  • Is a spectrum that includes impairments in social
    interaction and communication as well as
    stereotypic and repetitive behaviors
  • 50-70 of autistic children are intellectually
    disabled on nonverbal IQ testing
  • Incidence is 71000 in general population

Down syndrome and autism
  • Until not long ago, it was thought that DS and
    autism spectrum disorder (DS-ASD) could not exist
  • It now appears that ASD occurs 10 times more
    frequently in children with DS than in typical
    children and occurs in 7 of children with DS
  • Children with DS are less frequently affected
    with ASD than children with other forms of
    intellectual disability

Compared to DS children without ASD, children
with DS-ASD are more likely to have
  • History of developmental regression
  • Poor communication skills
  • Self-injurious and disruptive behaviors (skin
    picking, biting, head banging)
  • Repetitive motor behaviors (hand flapping,
    rocking, teeth grinding)
  • Unusual vocalizations (grunting, humming)

Compared to DS without ASD, children with DS-ASD
are more likely to have
  • Unusual sensory responsiveness (spinning, staring
    at lights)
  • Feeding problems (food refusal or strong
    preference for certain textures)
  • Increased anxiety, irritability, difficulty with
    transitions, hyperactivity, sleep disturbances
  • Increased risk for seizures

  • Children with DS-ASD are easily distinguished
    from both children with typical DS and children
    with severe cognitive impairment (including those
    with DS)
  • Children with DS-ASD are significantly more
    impaired in terms of cognition, language
    abilities, and adaptive behavior than children
    with DS alone
  • There is still a lot to learn about DS-ASD.
    Markers to differentiate differences in brain
    development in DS-ASD must be found, and various
    treatments must be investigated.

New Test for Down Syndrome??
Noninvasive prenatal screening for DS
  • December 1, 2008 Sequenom, Inc. announced
    results from a collaborative study with The
    Chinese University showing that it is
    preliminarily possible to diagnose Down syndrome
    on a blood sample taken from expectant mothers
    during the first and second trimesters of
  • -The method uses technology that extracts fetal
    RNA from maternal blood.
  • - Study is being launched to evaluate up to
    10,000 pregnancies at increased risk for DS

Noninvasive test (cont.)
  • At first, women with positive screens will still
    undergo CVS or amniocentesis to confirm results,
    but the hope is that the new test will ultimately
    replace both.
  • There is some concern that this testing will be
    marketed/in demand before sufficient studies are
    completed to prove accuracy.

Noninvasive test (cont.)
  • Researchers at Stanford have published
    preliminary results on a maternal blood-based DS
    screen that uses a different technology than
  • Other companies are also working on noninvasive

Its the Law
The law
  • September 23, 2008 --U.S. Senate and U.S.
    Congress passed the Prenatally and Postnatally
    Diagnosed Conditions Awareness Act
  • Designed to ensure that women receiving a
    diagnosis of DS during pregnancy and parents
    receiving a diagnosis after birth will receive
    up-to-date information about DS as well as
    referrals to support services
  • Endorsed by NDSS and NDSC and co-sponsored by
    Senators Edward Kennedy (D-MA) and Sam Brownback

The law (cont.)
  • Such services are typically offered by genetic
    counselors and medical geneticists, but there are
    simply not enough of them to meet the need.
  • It is important for community groups, such as
    PDSSN, to be familiar with this new legislation
    and to be prepared to provide support and
    education to expectant/new parents of DS infants

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