New Blood Test for Down syndrome

October 06, 2008
New Blood Test for Down Syndrome

Trisomy 21–the presence of three copies of chromosome 21–causes Down syndrome. This karyotype shows the classic appearance of trisomy 21.

Howard Hughes Medical Institute researchers have developed a new prenatal blood test that accurately detected Down syndrome and two other serious chromosomal defects in a small study of 18 pregnant women. If confirmed in larger trials, they say, the test would offer a safer and faster alternative to invasive prenatal tests such as amniocentesis that pose a small risk of miscarriage.

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70 years old and still going strong w/ Down syndrome….

70 Years Old And Going Strong With Down Syndrome And No Dementia

11 Sep 2008

In the world of Down syndrome, ‘Mr. C’ is a rarity. A real person whose progress has been tracked for the past 16 years, at seventy, ‘Mr. C’ has well surpassed the average life expectancy of a person with Down syndrome, currently in the late fifties, but in the teens when ‘Mr. C’ was born. Further, ‘Mr. C’ does not exhibit clinical symptoms of Alzheimer’s disease, which is almost a given for people with typical Down syndrome over 65 yeas of age. ‘Mr. C’, while remaining nameless, puts an optimistic face on the future of aging for people with Down Syndrome, as scientists ask the critical question: What is it about ‘Mr. C’’s individual characteristics and experiences that have made him not only live longer, but also age successfully despite having Down syndrome?

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Down Syndrome Health Care Guidelines – Childhood

DOWN SYNDROME HEALTH CARE GUIDELINES

(Based on 1999 Down Syndrome Health Care Guidelines)*

Childhood (1-12 Years)

• TSH and T4-Thyroid Function Test (annual).

• Echocardiogram by a pediatric cardiologist if not done previously.

• Behavioral Auditory Testing (every 6 months to age 3, then annually).

• Lateral cervical spine x-rays (neutral view, flexion, extension) to rule out atlanto-axial instability. Radiologist to measure atlanto-dens distance and neural canal width (at 3-5 years, then as needed).

• Pediatric and neurological exam with evaluation for spinal cord compression: deep tendon reflexes, gait, Babinski sign.

• Use Down syndrome growth charts and head circumference charts with others.

• Eye examination (annually, or as indicated).

• Screen for celiac disease IgA antiendomysium antibodies and total IgA (btwn 2 & 3 yrs)

• Question about obstructive sleep apnea; ENT exam (as needed).

• Dental Exam (2 years; follow up exams every 6 months after). Twice daily brushing

• Reinforce need for subacute bacterial endocarditis prophylaxis (SBE) for cardiac problems (as indicated).

• Brief vulvar exam for girls.

• Well child care: immunizations; pneumococcal vaccine (2 years).

• Evaluation by speech/language pathologist.

*[HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME: 1999 REVISION (Down Syndrome Preventive Medical Check List) is published in Down Syndrome Quarterly (Volume 4, Number 3, September, 1999, pp. 1-16) and is reprinted, duplicated, and/or transmitted with permission of the Editor. Information concerning publication policy or subscriptions may be obtained by contacting Dr. Samuel J. Thios, Editor, Denison University, Granville, OH 43023 (email: thios@denison.edu).]

Down Syndrome Health Care Guidelines – Adulthood

DOWN SYNDROME HEALTH CARE GUIDELINES

(Based on 1999 Down Syndrome Health Care Guidelines)*

Adulthood (More than 18 Years)

• TSH and T4-Thyroid Function Test (annual).

• Auditory testing (every 2 years).

• Cervical spine x-rays (as needed for sports); check for atlanto-axial dislocation.

• Opthalmologic exam, looking especially for keratoconus & cataracts (every 2 yrs)

• Clinical evaluation of the heart to rule out mitral/aortic valve problems. Echocardiogram-ECHO (as indicated).

• Reinforce the need for subacute bacterial endocarditis prophylaxis (SBE) in susceptible adults with cardiac disease.

• Baseline Mammography (40 yrs; follow up every other yr until 50, then annual).

• Pap smear and pelvic exam (every 1-3 yrs. after first intercourse). If not sexually active, single-finger bimanual exam with finger-directed cytology exam. If unable to perform, screen pelvic ultrasound (every 2-3 years). Breast exam (annually).

• General physical/neurological exam. Routine adult care.

• Clinical evaluation for sleep apnea.

• Low calorie, high-fiber diet. Regular exercise. Monitor for obesity.

• Health, abuse-prevention and sexuality education. Smoking, drug & alcohol ed.

• Clinical evaluation of functional abilities (consider accelerated aging); monitor loss of independent living skills.

• Neurological referral for early symptoms of dementia: decline in function, memory loss, ataxia, seizures and incontinence of urine and/or stool.

• Monitor for behavior/emotional/mental health. Psych referral (as needed).

• Continue speech and language therapy (as indicated).

* [HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME: 1999 REVISION (Down Syndrome Preventive Medical Check List) is published in Down Syndrome Quarterly (Volume 4, Number 3, September, 1999, pp. 1-16) and is reprinted, duplicated, and/or transmitted with permission of the Editor. Information concerning publication policy or subscriptions may be obtained by contacting Dr. Samuel J. Thios, Editor, Denison University, Granville, OH 43023 (email: thios@denison.edu).]

Down Syndrome Health Care Guidelines – Infant

DOWN SYNDROME HEALTH CARE GUIDELINES

(Based on 1999 Down Syndrome Health Care Guidelines)*

Infant (1-12 Months)

• General neurological, neuromotor and musculoskeletal examination.

• TSH and T4-Thyroid Function Test (6 & 12 months).

• Evaluation by pediatric cardiologist including echocardiogram (if not done at birth). Consider progressive pulminary hypertension if VSD or atrioventricular septal defect and little or no symptoms of heart failure.

• Subacute bacterial endocarditis prophylaxis (SBE) (as indicated).

• Well child care – immunizations.

• Feeding consult, especially if constipated. Consider Hirschsprung disease.

• Auditory brainstem response (ABR) or otoacoustic emission (OAE) test to assess congenital sensorineural hearing (by 3 months if not already, or if suspicious).

• Ear, nose and throat exam (as needed), especially if suspicious of otitis media.

• Well-balanced, high-fiber diet.

• Vision exam (by 6 months and annually; earlier if nystagmus, strabismus or indications of poor vision).

• Discuss Early Intervention and refer for enrollment in local program.

• Application for Supplemental Security Income (SSI), depending on family income.

• Consider estate planning and custody arrangements; continue family support.

*[HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME: 1999 REVISION (Down Syndrome Preventive Medical Check List) is published in Down Syndrome Quarterly (Volume 4, Number 3, September, 1999, pp. 1-16) and is reprinted, duplicated, and/or transmitted with permission of the Editor. Information concerning publication policy or subscriptions may be obtained by contacting Dr. Samuel J. Thios, Editor, Denison University, Granville, OH 43023 (email: thios@denison.edu).]

Down Syndrome Health Care Guidelines – Neonatal

DOWN SYNDROME HEALTH CARE GUIDELINES

(Based on 1999 Down Syndrome Health Care Guidelines)*

Neonatal (Birth-1 Month)

• Review parental concerns. Chromosomal karyotype; genetic counseling, if necessary.

• If vomiting or absence of stools, check for gastrointestinal tract blockage (duodenal web or atresia or Hirschsprung disease).

• Evaluation by a pediatric cardiologist including echocardiogram. Subacute bacterial endocarditis prophylaxis –(SBE), in susceptible children with cardiac disease.

• Exam for plethora, thrombocytopenia.

• Review feeding history to ensure adequate caloric intake.

• Thyroid function test – check on results of state-mandated screening at birth.

• Auditory brainstem response (ABR) or otoacoustic emission (OAE) test to assess congenital sensorineural hearing (at birth or 3 months).

• Pediatric opthalmological evaluation (by 6 months) for screening purposes.

• Discuss value of Early Intervention (infant stimulation) and refer for enrollment in local program.

• Referral to local Down syndrome parent group or family support and resources, as indicated. Referral to NDSS.

*[HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME: 1999 REVISION (Down Syndrome Preventive Medical Check List) is published in Down Syndrome Quarterly (Volume 4, Number 3, September, 1999, pp. 1-16) and is reprinted, duplicated, and/or transmitted with permission of the Editor. Information concerning publication policy or subscriptions may be obtained by contacting Dr. Samuel J. Thios, Editor, Denison University, Granville, OH 43023 (email: thios@denison.edu).]

Down Syndrome Health Care Guidelines – Adolescence

DOWN SYNDROME HEALTH CARE GUIDELINES

(Based on 1999 Down Syndrome Health Care Guidelines)*

Adolescence (12-18 Years)

• TSH and T4-Thyroid Function Test (annual).

• Auditory Testing (annually).

• Monitor for obstructive airway; sleep apnea.

• General physical and neurological exam; check for atlanto-axial dislocation. Cervical spine x-ray (as needed for sports).

• Eye examination (annually).

• Monitor for obesity by plotting height for weight on growth charts for typical children

• Clinical evaluation of the heart to rule out mitral/aortic valve problems. ECHO – Echocardiogram (as indicated by findings).

• Reinforce need for subacute bacterial endocarditis prophylaxis (SBE) in susceptible adolescents.

• Adolescent medicine consult for puberty/sexuality issues; health, abuse prevention and sexuality education. Pelvic exam (only if sexually active).

• Low calorie, high fiber diet; regular exercise

• Smoking, drug and alcohol education.

• Begin functional transition planning (16 yrs). Monitor independent functioning.

*[HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME: 1999 REVISION (Down Syndrome Preventive Medical Check List) is published in Down Syndrome Quarterly (Volume 4, Number 3, September, 1999, pp. 1-16) and is reprinted, duplicated, and/or transmitted with permission of the Editor. Information concerning publication policy or subscriptions may be obtained by contacting Dr. Samuel J. Thios, Editor, Denison University, Granville, OH 43023 (email: thios@denison.edu).]

Facts About Down Syndrome

• Down syndrome affects people of all ages, races and economic levels.
• Down syndrome is the most frequently occurring chromosomal abnormality, occurring once in every 733 live births.
• More than 350,000 people in the United States alone have Down syndrome.
• Approximately 5,000 people are born with Down syndrome in the U.S. each year.
• Down syndrome occurs when there are three, rather than two, copies of Chromosome 21 in a person’s cells. Instead of 46 chromosomes, a person with Down syndrome has 47.
• The additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.
• The average life expectancy of a person with Down syndrome is age 55, with many living into their 60’s and 70’s.
• Chromosome 21 has been fully sequenced – approximately 225 genes have been identified along this chromosome.
• Down syndrome got its name in 1866 when John Langdon Down, an English physician, published an accurate description of a person with Down syndrome, earning him recognition as the “father” of the syndrome.
• In 1959 French physician Jerome Lejeune identified Down syndrome as a chromosomal anomaly.
• There are three types of Down syndrome or Trisomy 21: non-disjunction, translocation and mosaic Down syndrome. The most common type is non-disjunction, accounting for 95 percent of all cases.
• It is estimated that the chance of having a second child with Down syndrome is about 1 in 100.
• Women age 35 and older have a significantly increased chance of having a child with Down syndrome. A 35-year-old woman has a one in 400 chance of conceiving a child with Down syndrome and this chance increases gradually to one in 110 by age 40. At age 45 the incidence becomes approximately one in 35.
• The only way to obtain a definitive diagnosis of Down syndrome is to perform a karyotype, which will examine the chromosomal make-up of the cell.

Myths & Truths

Myths & Truths About Down Syndrome

Myth: Down syndrome is a rare genetic disorder.
Truth: Down syndrome is the most commonly occurring genetic condition. One in every 800 to 1,000 live births is a child with Down syndrome. There are around 350,000 people in the U.S. with Down syndrome, with 5,000 to 6,000 births per year.

Myth: Most children with Down syndrome are born to older parents.
Truth: Eighty percent of children born with Down syndrome are born to women younger than the age of 35 due to the higher fertility rates. However, research has shown a link between the incidence of Down syndrome and maternal age.

Myth: People with Down syndrome have severe cognitive delays.
Truth: Most people with Down syndrome have cognitive delays that are mild to moderate. IQ is not an adequate measure of the functional status of people with Down syndrome. People with Down syndrome have great potential if given opportunities.

Myth: All people with Down syndrome will develop Alzheimer’s disease.
Truth: Approximately 25 percent of adults with Down syndrome over age 35 show clinical signs and symptoms of Alzheimer’s-type dementia; the percentage increases with age. The incidence of Alzheimer’s disease in the Down syndrome population is three to five times greater than in the general population, which is 5-10 percent in people over age 65.

Myth: The life expectancy of people with Down syndrome is 30 years.
Truth: Thanks to advances in medical and clinical treatment and opportunities to thrive, as many as 80 percent of adults with Down syndrome reach age 55, and many live longer.

Myth: Parents with a pre-natal diagnosis of Down syndrome always opt to terminate.
Truth: While some parents choose to terminate a pregnancy upon receiving a diagnosis of Down syndrome, many keep their baby. Assumptions should never be made about a parent’s beliefs or decisions. Expectant parents should be provided with up-to-date, accurate information so they may make an informed decision that’s right for them.

Myth: Behavior problems and depression are just part of “having Down syndrome”
Truth: Often, medical or mental health problems go untreated due to the assumption that it is typical of having this genetic condition. Complete examinations by appropriate health care professionals should always be pursued.

Myth: People with Down syndrome need to see a specialist for medical check-ups.
Truth: A primary care physician can perform regular check-ups on a person with Down syndrome, paying specific attention to some of the medical conditions most commonly experienced by this population. There are Down Syndrome Health Care Guidelines and other resources available that can be used to help treat these patients.

Myth: Down syndrome is hereditary and runs in families.
Truth: Most cases of Down syndrome are sporadic, chance events. However, in translocation (which accounts for three to four percent of cases), one parent may be identified as a carrier of a translocated chromosome. Down syndrome does not otherwise run in families and a sibling or aunt has no greater chance of conceiving a child with Down syndrome. In general, the incidence of having a second child with Down syndrome is about one in 100.

Myth: There is little community support for bringing up a child with Down syndrome.
Truth: In almost every community of the U.S. there are parent support groups and other community organizations directly involved in providing services to families of individuals with Down syndrome.

Myth: Children with Down syndrome are placed in segregated special education programs.
Truth: Children with Down syndrome are included in regular academic classrooms across the country. Students may be integrated into specific courses or fully included in the regular classroom for all subjects. The degree of inclusion is based on the abilities of the individual, but the goal is full inclusion.

Myth: Adults with Down syndrome cannot form interpersonal relationships, marry or have children.
Truth: People with Down syndrome date and marry and it is possible for women with Down syndrome to have children. There is a 50 percent chance that the child will have Down syndrome. While extremely rare, men with Down syndrome can father children.

Myth: Most people with Down syndrome are institutionalized.
Truth: Today people with Down syndrome live at home with their families, in group homes or homes of their own. They are integrated into the regular education system and are active participants in the vocational, social, religious and recreational activities of the community.

Myth: Adults with Down syndrome are unemployable.
Truth: Businesses are seeking young adults with Down syndrome for a variety of positions. They are employed in offices by banks, corporations, nursing homes, hotels and restaurants. They work in the music and entertainment industry. People with Down syndrome bring to their jobs enthusiasm, reliability and dedication.