Down Syndrome:Screening Recommendations

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APPROACH TO A CASE OF DOWN'S SYNDROME

Screening Recommendations

Related topics

General Principles Of Health Care

Special Medical Concerns

Management Of Common Illnesses

Developmental Issues

Females Special Health with Down's syndrome and Transition into adulthood

Dr. Swati Kolpuru,
DCH.

Neonatal period (Birth to one month) :

Chromosomal karyotype
Hematocrit or complete blood count to rule out myeloproliferative disorders
Thyroid function tests
Echocardiogram
Auditory brainstem response or otoacoustic emission test to assess congenital sensorineural hearing at birth or by 3 months of age.
Ophthalmologic evaluation if nystagmus or strabi

Infancy (1-12 months) :

Echocardiogram if not done in newborn period
Auditory brainstem response test if previous results are suspicious.
Ophthalmologic evaluation by six months of age.
Thyroid function test at 6 and 12 months of age.

Childhood (1 year to 12 years) :

Echocardiogram if not done previously.
Thyroid function test yearly.
Regular eye exams yearly if normal, or more frequently as indicated.
Between 3 and 5 years of age, lateral cervical spine x-rays to rule out atlanto-axial instability.
Dental evaluation at one year of age and follow-ups every six months.
Celiac disease screening with IgA antiendomysium antibodies and total IgA at 2-3 years of age.

Adolescence (12 to 18 years) :

Pelvic exam if sexually active.
Thyroid function testing yearly.
Hearing and vision evaluation every year.
Repeat cervical spine x-rays if needed.
Echocardiogram if evidence of valvular disease on clinical exam.

Adults (over 18 years) :

Annual thyroid screening.
Ophthalmologic evaluation every 2 years.
Repeat cervical spine x-rays as needed.
Auditory testing every 2 years.
Twice yearly dental visits.
Pap smears every 1-3 year following the age of first intercourse.
For women who are sexually not active, finger- directed cytology exam.
Screening pelvic ultrasound every 2-3 years for women who refuse or have inadequate follow -up bimanual examinations.
Yearly breast examination.
Mammography after age 50.

Next : Management Of Common Illnesses

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