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| Down Syndrome is one of the most common forms of mental retardation. It is most often due to an extra chromosome 21 resulting in Trisomy 21. In younger mothers, a Down syndrome child may be due to a chromosomal
defect that may be inherited from either parent. Older women are more likely
to have a child with a chromosomal trisomy such as trisomy 21, trisomy
18, trisomy 13 and other type of anomalies which are not inherited, but often associated with advanced maternal age. For this reason women approaching
35 years of age should know that planning a pregnancy may also call for
prenatal studies.
Early care of Down syndrome children is very important. Early stimulation also helps Down syndrome children develop more fully.
After having a Down syndrome child, even if it is the only occurance in the family,
the risk of having another is increased. For these reasons our team recommends:
- All babies with Down syndrome should have a chromosome study Consultation with a clinical geneticist. A clinical geneticist along
with the pediatrician implement anticipatory health care strategies to
optimize the development and health of a Down syndrome child.
- Prenatal studies of pregnancies subsequent to the birth of a Down syndrome child.
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W.Wertelecki, M.D. Updated: May 2004 |
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Health Supervision
for Children With Down Syndrome (Cached)
Committee on Genetics, American Academy of Pediatrics, February 2001
 [for Professionals mainly]
These guidelines are designed to assist the pediatrician in caring for
the child in whom the diagnosis of Down syndrome has been confirmed by
karyotype ... eight pages ... Among the more common physical features
are hypotonia, small brachycephalic head, epicanthic folds, flat nasal
bridge, upward slanting palpebral fissures, Brushfield spots, small mouth,
small ears, excessive skin at the nape of the neck, single transverse
palmar crease, and short fifth finger with clinodactyly. A wide space,
often with a deep fissure between the first and second toes, is also
common. The degree of mental impairment is variable, ranging from mild
(IQ: 50-70) to moderate (IQ: 35-50) ... obstructive sleep apnea (50%-75%);
and thyroid disease (15%). The social quotient may be improved with early
intervention techniques, although the level of function is exceedingly
variable...In approximately 95% of children with Down syndrome ... nonfamilial
trisomy 21 ... 3% to 4% ... extra chromosomal material ... Medical management,
home environment, education, and vocational training can significantly
affect the level of functioning ... Pediatricians may be asked to counsel
a family...FROM BIRTH TO 1 MONTH...FROM 1 MONTH TO 1 YEAR ... FROM 1
YEAR TO 5 YEARS ... FROM 5 YEARS TO 13 YEARS .. .FROM 13 YEARS TO 21
YEARS ...
DOWN SYNDROME
Victor A. McKusick, OMIM, Johns Hopkins University, March 21, 2008
[for Professionals mainly]
Comprehensive clinical, cytogenetic, pathogenesis ... an authoritative
source.
Down Syndrome
March of Dimes, December 2004
[Support Groups]
Down syndrome is a disorder that includes a combination of birth defects;
among them, some degree of mental retardation, characteristic facial
features and, often, heart defects, increased infections, problems with
vision and hearing, and other health problems ... What Health Problems
Might a Child with Down Syndrome Have? ... What Does a Child with Down
Syndrome Look Like? ... What can a Child With Down Syndrome Do? ... Can
a Child with Down Syndrome Go to School? ... Who has the Greatest Risk
of Having a Baby with Down Syndrome? ... What Is the Risk that Parents
of a Child with Down Syndrome Will have Another Affected Child? ... Is
the March of Dimes Conducting Research on Down Syndrome? ...
The story of Down
Syndrome - Trisomy 21
L. Leshin, M.D. F.A.A.P. , 2003
[for Professionals mainly]
and a list of well selected Down
Syndrome related links
Atlantoaxial Instability in Down Syndrome
American Academy of Pediatrics, July 1995
[for Professionals mainly]
AAI, also called atlantoaxial subluxation, denotes increased mobility
at the articulation of the first and second cervical vertebrae (atlantoaxial
joint)...The causes of AAI are not well understood ... In its mildest
form, AAI is asymptomatic and is diagnosed using radiography ... Approximately
15% of individuals in the pediatric age group (<21 years old) who
have Down syndrome also have AAI.[2] Almost all of the persons affected
are asymptomatic ... of symptomatic AAI include easy fatiguability, difficulties
in walking, abnormal gait, neck pain, limited neck mobility, torticollis
or head tilt, in-coordination and clumsiness, sensory deficits, spasticity,
hyperreflexia, clonus, extensor-plantar reflex, and other upper motor
neuron and posterior column signs and symptoms ... For this or any screening
program to be worthwhile ... In the pediatric age group, only 41 well-documented
cases have been described in the published literature ... Asymptomatic
AAI, which is common, has not been proven to be a significant risk factor
for symptomatic AAI ... Arguments against screening include the rarity
of symptomatic AAI, inaccuracy in the screening test, the possibility
that patients with abnormal radiographs initially will have normal radiographs
later on ... One study found that children with Down syndrome and asymptomatic
AAI who were allowed to play all sports had no serious spinal cord injuries
or evidence of neurologic deterioration ...
National Down Syndrome Society
National Down Syndrome Society, 2009
[Support Groups]
A nicely organized general medical information site ... It provides position statements regarding vitamins, Piracetam, Endrocrine
conditions, Alzheimer's, Sexuality, Neurologic deficits and more.
Down Syndrome - Q & A
National Down Syndrome Society, 2009
[Support Groups]
Down Syndrome - Head
Circumference Charts
Greg Richards , Growth Charts for Children with Down Syndrome, August 28, 2001
Down Syndrome Fact Sheet for
Professionals in Ukrainian
I.B.I.S. Birth Defects, 2005
[Ukrainian]
Main diagnostic criteria ... Clinical picture ... Diagnosis ... Prenatal
diagnosis ... Etiology ... Prognosis ... Treatment
Down Syndrome Charts and
Tables in Ukrainian
IBIS Birth Defects, June 12, 2002
[Ukrainian]
Translation of "Growth References: Third Trimester to Adulthood" book
compiled by Robert A. Saul, MD, Joseph S. Geer, MD, Laurie H. Seaver,
MD, Mary C. Phelan, PhD, Kevin M. Sweet, MS, Carolyn M. Mills, MS (Greenwood
Genetic Center)
... Height, Males, 0-36 Months ... Height, Males, 2-18
Years ... Height, Females, 0-36 Months ... Height, Females, 2-18 Years
... Head Circumference ... Ear Length ... Development
Observation
on an Ethnic Classification of Idiots (Classic Paper)
An article by J. Langdon H. Down, M.D., London.
[for Professionals mainly]
Those who have given
any attention to congenital mental lesions, must have been frequently
puzzled how to arrange, in any satisfactory way, the different classes
of this defect which may have come under their observation
Prenatal - Amniocentesis -
Screening - AFP - MSAFP
Prenatal Genetic Diagnosis
for Pediatricians including Down Syndrome
A policy statement by the American Academy of Pediatrics.
[for Professionals mainly]
Down
Syndrome - Endocrine Conditions
National Down Syndrome Society, 2009
[Support Groups]
Down
Syndrome - Neurology
National Down Syndrome Society, 2009
[Support Groups]
Down
Syndrome - Sexuality
National Down Syndrome Society, 2009
[Support Groups]
Prenatal Testing
for Down Syndrome
L. Leshin M.D. 2007
A crisp, compact (4 page) review
Amniocentesis explained
GeneCare Medical Genetics Center, May 25, 2004
Nuchal Translucency
Is there a way to obtain risk assessment earlier in pregnancy?
Vincent Obstetrics and Gynecology Service, Massachusetts General Hospital, 2005
... The nuchal translucency is typically very tiny, only 1 to 2 mm. It takes special training and expertise to make this measurement accurately. The Fetal Medicine Foundation has played a leading role in standardizing the precise way this measurement should be made and interpreted ...
Nuchal Translucency Ultrasound
Berkeley Parents Network, February 2, 2007
[Support Groups]
... I don't know if the nuchal translucency has more false positives than the AFP but I prefered it over the AFP because it uses an ultrasound to measure the nape of the baby's neck which it correlates with the levels of hormones the blood test measures ...
Prenatal Diagnosis (Down Syndrome)
UCSF Children's Hospital, July 12, 2007
[for Professionals mainly] [Support Groups]
Screening can provide important information about potential risks for pregnancy.
Screening tests have been designed to identify women at increased risk of having
a baby with Down syndrome ... UCSF Medical Center is one of the few centers nationwide
to offer nuchal translucency screening (NT) screening, a new, non-invasive test
performed early in pregnancy to identify women at increased risk for Down syndrome
and other birth defects ...
Risikoermittlung für fetale Chromosomen
Labor 28 (Germeinschaftspraxis für Laboratoriumsmedizin), February 2002
[for Professionals mainly] [German]
Die Berechnung mit PAPP-A (pregnancy-associated plasma protein A) führt gegenüber dem bisherigen Triple-Test (4, 5) mit freiem Östriol (uE3) zu weniger falsch auffälligen Ergebnissen! (3) ... Da das PAPP-A seine Markerqualität von der 10. zur 14. SSW kontinuierlich verliert, das hCG seinen größten Aussagewert erst ab der 15. SSW erreicht und das AFP als Indikator für Verschlussstörungen überhaupt erst ab der 15. SSW informativ ist, sind für die Untersuchung und Risikoermittlung zwei Blutabnahmen erforderlich ...
Trissomia
do Cromossomo 9 Associada com Aumento da Translucência Nucal (Download
PDF)
Carlos Geraldo Viana Murta and Paulo Roberto Merçon-de-Vargas, Radiologia Brasileira, Volume 34 (#2), March-April 2001
[for Professionals mainly] [Portuguese]
... Relatamos um caso de trissomia completa do cromossomo 9 associada com aumento da translucência nucal (9,1 mm), diagnosticada por ultra-som na 12a semana de gestação e confirmada por cariótipo em espécime de biópsia do vilo corial. Múltiplas anomalias congênitas foram diagnosticadas no exame ultra-sonográfico e confirmadas na autópsia. Embora rara, a trissomia 9 deve ser incluída no rol das anomalias cromossômicas associadas com aumento da translucência nucal ... Unitermos: Trissomia 9. Patologia. Ultra-sonografia pré-natal. Translucência nucal. Anomalias cromossômicas ...
Nuchal Translucency
A. P. Souka, Archives of Hellenic Medicine, 17(5), September-October 2000, 463-476
The 11–14 week scan offers the opportunity for early assessment of risk of chromosomal abnormality by measuring nuchal translucency and enables the early diagnosis of major structural defects ...
Nuchal
Translucency
Nederlandse Vereniging voor Obstetrie en Gynaecologie, January 2000
[Dutch]
De meest gebruikelijke indicaties voor
invasieve prenatale diagnostiek zijn: a
een gevorderde maternale leeftijd (36
jaar of ouder), b een belaste
(familie-)anamnese, c een afwijkende
testuitslag bij serumscreening. Deze
indicaties zijn gebaseerd op de
verhoogde kans dat een zwangere een
kind met het syndroom van Down of
een andere chromosomale afwijking
krijgt. Deze kans kan ook worden
geschat door echoscopische meting
van de nuchal translucency vroeg in de
zwangerschap.
NT. De NT bij chromosomaal
normale foetussen is vooral
afhankelijk van de
zwangerschapsduur en bereikt zijn
maximum rond 13 weken. De
mediane NT-diameter neemt toe van
0,7 mm bij 70 dagen tot 1,7 mm bij
91 dagen en daalt naar 1,0 bij 105
dagen zwangerschapsduur. Indien
het foetale chromosomenpatroon
normaal is blijkt de dikte van de NT
gerelateerd te zijn aan een
toegenomen risico op een miskraam ...
First-Trimester Screening for Fetal Anomalies with Nuchal Translucency
American College of Obstetricians and Gynecologists, 2004
... The ultrasonographic finding of nuchal translucency (an echo-free area at the back of the fetal neck) in the first trimester of pregnancy reportedly has been associated with fetal chromosome abnormalities (2-4) ...
New ultrasound offers noninvasive alternative
Lindsay O'Quin, November 25, 2003
[Support Groups]
... premiering the 4-D ultrasound less than a year ago, USA is the first center
in the state certified to offer a unique, noninvasive test to detect Down syndrome
and other chromosomal abnormalities in the first trimester of pregnancy... thickness
of skin at the back of the fetal neck.
Clareté nucale au premier trimestre
François Audibert et al, Hôpital Antoine Béclère, Paris, France
[for Professionals mainly] [French]
In a consecutive series of 4308 women aged less than 38 with a singleton pregnancy, we examined the detection rate of nuchal translucency (NT) measurement at 10-14 weeks and maternal serum screening (MSS) by human chorionic gonadotropin and alpha-feto-protein at 14-18 weeks ... A second trimester detailed ultrasound scan was also performed in all women ... there were 12 cases of Down’s syndrome ... Seven of twelve cases had a NT measurement above 3 mm (58%) ...
La Translucenza Nucale
[for Professionals mainly] [Support Groups] [Italian]
La Translucenza Nucale è una ecografia che viene eseguita fra la 11ª e la 14ª settimana e consente di determinare il rischio statistico per la sindrome di Down e altre patologie cromosomiche più rare...
Badania przesiewowe w rozpoznawaniu zespołu Downa
M. J. Whittle, Birmingham Maternity Hospital, Birmingham, UK
[for Professionals mainly] [Polish]
Zespół Downa pozostaje najpowszechniejszą przyczyną upośledzenia umysłowego. Wiele rodzin chciałoby mieć szansę zadecydowania ...
Controversies
Cell Therapy
and Down Syndrome as seen by a specialized physician
S. Pueschel, M.D.
"Sicca cell treatment, also known as cell, dry cell, or fetal cell therapy, was
introduced in the 1930s ... there is no evidence that sicca cell therapy has
any beneficial effects ..."
Amino Acid Profiles and
Down Syndrome
L. Leshin,
M.D., 1996
"Many parents ... are hearing about nutritional supplement packages ... no differences
... (to) justified dietary supplementation"
"Obstructive Sleep Apnea
and DS"
L. Leshin, M.D., 2003
Donopezil
May Be Effective For Down's Syndrome
Dr. Priya Kishnani et al, 1999
Social Issues
Education Information on Down Syndrome
National Down Syndrome Society, 2009
[Support Groups]
Nicely organized site, includes some terms explained (IEP, LRE, ...)
and a comprehensive listing of organizations, newsletters
and bulletins relating to special education .
Support Groups - Organizations (For
local organizations seek information under specific nation,
province, region, city...)
If you are seeking basic information
about people with Down Syndrome
Down Syndrome Association, UK, 2007
[Support Groups]
"The Down Syndrome Educational
Trust"
Downsed Online, 2007
[Support Groups]
An organization founded in 1996, mostly based in UK.
Down Syndrome
I.B.I.S. Birth Defects, February 14, 2003
[Ukrainian]
Fact Sheet for Parents in Ukrainian
Advices for Parents of Down
Syndrome children
I.B.I.S. Birth Defects, June 12, 2002
[Ukrainian]
Fact Sheet for Parents in Ukrainian
Publications - Journals
Down
Syndrome Resources on the Internet
"Down Syndrome
Quarterly"
A dedicated journal offering reports of medical, behavioral and social
studies.
"Down Syndrome
On-Line"
A journal for parents.
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Last Updated: 2009/03/09
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