Trisomy 21

-A common chromosome disorder, often called Down Syndrome due to a meiotic nonnondisjunction (a sperm or egg cell) where it produces an extra chromosome number 21 - The most frequent viable chromosome disease.

CAUSES


cell division abnormalities during the development of the egg, sperm or embryo. Advance parental age 35 and above

Risk factors
 

history of a previous child with Down syndrome Maternal Age

    

Under the age of 30 years, the risk of having a baby with Down years, syndrome is less than 0.1%; Between 30 and 40 years, the risk of having a baby with Down syndrome is less than 1%; Over 40 years, the risk of having a baby with Down syndrome is more years, than 1%; Over 45 years, the risk of having a baby with Down syndrome is 3,3%; years, Over the age of 50 years, the risk of having a baby with Down years, syndrome is about 15%.

 

Prior child with Trisomy 21 (1% recurrence risk) Carriers of a balanced translocation of Chromosome 21

Patophysiology


This result is a Karyotype of 47 chromosomes , instead of 46. It results in an unbalanced translocation of chromosomal rearrangement in which the long arm of chromosome 21 breaks off and attaches to another chromosome .

Signs and symptoms

   

  

General Characteristics of Down Syndrome : Short stature : the child usually have slow growth rate, and in adulthood their height is lower than average; Most children with Down syndrome have some of these physical traits: Low muscle tone : a child suffering from Down syndrome may have less muscle strength than other children of the same age; Short and stocky limbs, some children may have a limbs, wider space between the thumb and second finger of the foot; One fold in the central part of the palm : it is called the simian line Ears with modified form : usually small and with a low placement ; Abnormal mouth and tongue: mouth is often open, tongue: exfoliative glossitis, tongue with scrotal appearance (in adolescents and adults), pseudomacroglossia;

   

Flattened nasal bridge : flat nose portion located between the two eyes (nasal bridge) is frequently clogged; Brushfields spots : colored spots on the iris, these spots are not affecing the sight; Malformation of the teeth: baby teeth may grow later and in an unusual way, teeth: agenesis of lateral incisors Skeleton and skin features: short arm, finger clinodactyly of the fifth finger with a single flexion crease, flat foot, increased space between first toe and second toe, xerosis, hyperkeratotic lesions, alopecia, vitiligo, foliculitis and recurent skin infections. Psychomotor retardation: hypotonia occurs at birth, but mental retardation retardation: is less evident at birth. Children are affectionate, jovial and present difficulty in speech, like the game, arrange objects in order, the memory is not affected. They presents a moderate to sever mental retardation with an IQ = 20-85, 20with a average of 50.

Down syndrome associates malformations of organs and systems in 45% of cases: cases: Cardiac: Cardiac: atrioventricular septal defect, defect, ventricular septal defect, interatrial defect, septal defect,patent ductus arteriosus; defect, arteriosus; Gastrointestinal: Gastrointestinal: duodenal stenosis, anal disease, imperforation, celiac disease, Meckel diverticulm, omphalocele and Hirschprung disease; Genitourinary: Genitourinary: micropenis, cryptorchidism, renal malformations and hypospadias; Eye: cataracts, astigmatism, Eye: cataracts, astigmatism, myopia, glaucoma; strabismus and glaucoma; .

 

   

Endocrine: Endocrine: Hashimotos thyroiditis, hypothyroidism, hyperthyroidism; Hematologic: Hematologic: acute lymphocytic leukemia, acute nonnon-lymphoblastic leukemia, megakaryocytes leukemia; Immunological: Immunological: various immune deficiency; Metabolic: hyperuricemia, diabetes, obesity; Metabolic: hyperuricemia, diabetes, obesity; Sterility in males patients with Down syndrome; Alzheimers disease

Karyotype of Down syndrome

Down syndrome is not a condition that can be cured.

Managment
    

Physical Therapy Speech therapy A screening test. A diagnostic test ultrasound of the heart (echocardiogram) should be done immediately in order to identify congenital heart disease karyotype -Chromosome analysis  test to find the size, shape, and number of chromosomes in a sample of body cells. It can be done on blood, tissue, or cells from amniotic fluid.

Medical Management
   

antianti-seizure medications thyroid replacement hormones antibiotics for infections blood pressure medications

Surgical management
  

  

Facial Reconstruction ( plastic surgery) Tongue Reduction Congenital Heart surgery  Tetralogy of Fallot  Persistent ductus arteriosus  Atrial septal defect  Ventricular septal defect spinal fusion -to hold the bones in the neck together eye muscle surgery (to straighten eyes with strabismus) tympanoplasty or myringoplasty - Perforated Eardrum

Nursing management


  

Teach parent the importance of a balance diet for the child. Encourage parent to hold and nurture the child. Help parents set realistic goals for the child Refer parents and older siblings for genetic and psychological counseling Encourage parents to remember emotional needs of their children