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Down Syndrome - Trisomy 21

International Birth Defects Information Systems

Down Syndrome - Trisomy 21

Topics: | Down Syndrome | Trisomy 21 | 21+ | Langdon Down Syndrome | Screening | Prenatal - Amniocentesis | Nuchal Translucency | Controversies | Education & Social Issues | Support Groups | Publications |

Related Topics : | Disabilities | Birth Defects |

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Fine Arts : Down Syndrome (A) (B)

Down Syndrome. Click to see details
Down Syndrome. Click to see details
See our Resources in or Birth Defects Help
Notes per Visitors  
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.
Birth Defects Center W.Wertelecki, M.D. Updated: May 2004

Health Supervision for Children With Down Syndrome (Cached)
Committee on Genetics, American Academy of Pediatrics, February 2001
Visitor Comments [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 ...

Victor A. McKusick, OMIM, Johns Hopkins University, March 21, 2008
Visitor Comments [for Professionals mainly]
Comprehensive clinical, cytogenetic, pathogenesis ... an authoritative source.

Down Syndrome
March of Dimes, December 2004
Visitor Comments [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
Visitor Comments [for Professionals mainly]
and a list of well selected Down Syndrome related links

Atlantoaxial Instability in Down Syndrome
American Academy of Pediatrics, July 1995
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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.
Visitor Comments [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.
Visitor Comments [for Professionals mainly]

Down Syndrome - Endocrine Conditions
National Down Syndrome Society, 2009
Visitor Comments [Support Groups]

Down Syndrome - Neurology
National Down Syndrome Society, 2009
Visitor Comments [Support Groups]

Down Syndrome - Sexuality
National Down Syndrome Society, 2009
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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
Visitor Comments [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
Visitor Comments [for Professionals mainly] [Polish]
Zespół Downa pozostaje najpowszechniejszą przyczyną upośledzenia umysłowego. Wiele rodzin chciałoby mieć szansę zadecydowania ...


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
Visitor Comments [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
Visitor Comments [Support Groups]

"The Down Syndrome Educational Trust"
Downsed Online, 2007
Visitor Comments [Support Groups]
An organization founded in 1996, mostly based in UK.

Down Syndrome
I.B.I.S. Birth Defects, February 14, 2003
Visitor Comments [Ukrainian]
Fact Sheet for Parents in Ukrainian

Advices for Parents of Down Syndrome children
I.B.I.S. Birth Defects, June 12, 2002
Visitor Comments [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.


Last Updated: 2009/03/09


American Medical Association