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    Down Syndrome: Sheela Rajakumari J MSC Nursing 1 Year MMM College of Nursing

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    Sheela Raja Kumari
    This document provides information about Down syndrome, including its definition, incidence, risk factors, causes, clinical manifestations, diagnostic evaluation, and management. Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It occurs in about 1 in 1000 live births worldwide. Risk factors include advanced maternal age, family history, and gene translocations. Clinical manifestations include intellectual disability, characteristic facial features, congenital heart defects, gastrointestinal abnormalities, hearing loss, and increased risk of leukemia. Diagnosis is confirmed through chromosomal analysis. Management involves monitoring growth, screening for common conditions, providing rehabilitation, and counseling.

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    Down Syndrome: Sheela Rajakumari J MSC Nursing 1 Year MMM College of Nursing

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    Sheela Raja Kumari
    75 views18 pages
    This document provides information about Down syndrome, including its definition, incidence, risk factors, causes, clinical manifestations, diagnostic evaluation, and management. Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It occurs in about 1 in 1000 live births worldwide. Risk factors include advanced maternal age, family history, and gene translocations. Clinical manifestations include intellectual disability, characteristic facial features, congenital heart defects, gastrointestinal abnormalities, hearing loss, and increased risk of leukemia. Diagnosis is confirmed through chromosomal analysis. Management involves monitoring growth, screening for common conditions, providing rehabilitation, and counseling.

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    DOWN SYNDROME

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    This document provides information about Down syndrome, including its definition, incidence, risk factors, causes, clinical manifestations, diagnostic evaluation, and management. Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It occurs in about 1 in 1000 live births worldwide. Risk factors include advanced maternal age, family history, and gene translocations. Clinical manifestations include intellectual disability, characteristic facial features, congenital heart defects, gastrointestinal abnormalities, hearing loss, and increased risk of leukemia. Diagnosis is confirmed through chromosomal analysis. Management involves monitoring growth, screening for common conditions, providing rehabilitation, and counseling.

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    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    75 views18 pages

    Down Syndrome: Sheela Rajakumari J MSC Nursing 1 Year MMM College of Nursing

    Uploaded by

    Sheela Raja Kumari
    This document provides information about Down syndrome, including its definition, incidence, risk factors, causes, clinical manifestations, diagnostic evaluation, and management. Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It occurs in about 1 in 1000 live births worldwide. Risk factors include advanced maternal age, family history, and gene translocations. Clinical manifestations include intellectual disability, characteristic facial features, congenital heart defects, gastrointestinal abnormalities, hearing loss, and increased risk of leukemia. Diagnosis is confirmed through chromosomal analysis. Management involves monitoring growth, screening for common conditions, providing rehabilitation, and counseling.

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    Download as pptx, pdf, or txt
    of 18

    DOWN

    SYNDROME
    SHEELA RAJAKUMARI J
    MSC NURSING 1ST YEAR
    MMM COLLEGE OF NURSING
    Objectives of the class..

     Definition of down syndrome


     Incidence of down syndrome
     Risk factors of down syndrome
     Causes of down syndrome
     Clinical manifestation of down syndrome
     Diagnostic evaluation of down syndrome
     Management of down syndrome
    DEFINITION

    Down syndrome is a congenital disorder caused by the presence in the


    human genome of extra genetic material from chromosome 21. the affected
    individual may inherit on extra copy or a part of chromosome 21 which also
    known as trisomy 21.
    INCIDENCE

     World wide : 1 in1000 live birth world wide

     India: 19 births per 1000 population


    RISK FACTORS

    Gene translocation
    Family
    Maternal
    history
    age
    CAUSES OF DOWN SYNDROME
    CLINICAL MANIFESTATION
    Other defects..

      Cardiovascular problems - ventricular septal defect, atrial septal defect, patent


    ductus arteriosus
     Endocrine problems - thyroid problems, diabetes mellitus
     Gastrointestinal problems – duodenal, oesophageal and anal atresia, Hirschsprung's
    disease
     Haematological problems - Acute leukaemia.
     Neurological problems - Epilepsy, severe behavioural problems, Alzheimer's,
    memory problems
    Cont..

     Sleep problems -Sleep apnoea.


     Skeletal problems -Flat foot
     Visual problems -Refractive disorder, squint
     Hearing problems - Hearing loss, conductive hearing loss, chronic otitis media
     Obesity and nutrient deficiency
     Malabsorption (probably linked with celiac disease) due to intestinal damage
     Some has lack of vitamin B12, folic acid and zinc
     Need for antioxidants i.e. vitamin E
    Cont..

    Mental Retardation
     Almost all down syndrome babies have MR.
     Mildly to moderately retarded .
     Starts in the first year of life - Average age of sitting(11 month), and
    walking (26 month) is twice the typical age. First words at 18 months.
    IQ declines through the first 10 years of age, reaching a plateau in
    adolescence that continues into adulthood.
    DIAGNOSTIC
    EVALUATION
    MANAGEMENT

    1. Growth – Measurements should be plotted on the appropriate growth chart


    for children with down syndrome.
    2. This will help in prevention of obesity and early diagnosis of celiac
    disease and hypothyroidism.
    3. Cardiac disease – All newborns should be evaluated by cardiac ECHO for
    CHD in consultation with pediatric cardiologist.
    4. Hearing – Screening to be done in the newborn period, every 6 months
    until 3 years of age and then annually.
    Cont..

     5. Eye disorders - An eye exam should be performed in the newborn period or at least before
    6 months of age to detect strabismus, nystagmus, and cataracts.
    6. Thyroid Function – Should be done in newborn period and should be repeated at six and 12
    months, and then annually.
    7. Celiac Disease – Screening should begin at 2 yrs. Repeat screening if signs develop. 
     8. Hematology – CBC with DLC at birth to evaluate for polycythemia as well as leukemia.
    Atlanto-axial instability – X ray for evidence of AAI or sub-luxation at 3 to 5 years of age. 9.
    Alzheimer’s disease – Adult with a Down Syndrome has earlier onset of symptoms. When
    diagnosis is considered, thyroid disease and possible depression should be excluded.
    10.Rehabilitation
    9. Alzheimer’s disease – Adult with a Down Syndrome has
    earlier onset of symptoms.
    10.Rehabilitation
    PREVENTION

     Counseling
    May begin when a prenatal diagnosis is made.
    Discuss the wide range of variability in manifestation and prognosis.
    Medical and educational treatments and interventions should be discussed. Initial
    referrals for early intervention.
     Rehabilitation.
    NURSING DIAGNOSIS

     Delayed growth and development


     Self care deficit
     Impaired verbal communication
     Risk for infection
    THANK YOU

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