Hagerstown Community College

Nursing 229
Clinical Prep Card
Condition/Disease Down

Syndrome

Description
Down syndrome is by far the most common and best known chromosomal disorder in humans and the most
common cause of intellectual disability.
Pathophysiology
It is primarily caused by trisomy of chromosome 21 (see the image below), which gives rise to multiple
systemic complications as part of the syndrome. However, not all defects occur in each patient; there is a wide
range of phenotypic variation.
Clinical Manifestations
Signs

Parental concern about hearing, vision,

developmental delay, respiratory infections, and

other problems

Symptoms

Feeding history to ensure adequate caloric intake

Prenatal diagnosis of Down syndrome
Vomiting secondary to gastrointestinal tract

blockage by duodenal web or atresia

Absence of stools secondary to Hirschsprung disease
Delay in cognitive abilities, motor development,
language development (specifically expressive
skills), and social competence
Arrhythmia, fainting episodes, palpitations, or chest
pain secondary to a heart lesion
Symptoms of sleep apnea, including snoring,
restlessness during sleep, difficulty awaking,
daytime somnolence, behavioral changes, and school
problems
Flat occiput and a flattened facial appearance
Brachycephaly
Epicanthal folds
Flat nasal bridge
Upward-slanting palpebral fissures
Brushfield spots
Small nose and small mouth
Protruding tongue
Small and dysplastic ears
Generous nuchal skin
Diastasis recti
Single transverse palmar crease
Short fifth finger with clinodactyly
A wide space between the first and second toes.

Diagnostic Tests
Complete blood count with differential
Bone marrow examination to rule out leukemia
Thyroid-stimulating hormone (TSH) and thyroxine (T4) to rule out hypothyroidism
Papanicolaou smears every 1-3 years in sexually active women
Cytogenetic studies (karyotyping) for diagnosis of trisomy 21
Interphase fluorescence in situ hybridization (FISH) for rapid diagnosis of trisomy 21

 Assessment of mosaicism for trisomy 21 (lymphocyte preparations, buccal mucosa cellular preparations,
FISH, scoring frequency of trisomic cells)

Immunoglobulin G
Maternal serum biochemical markers

Collaborative Care
Timely surgical treatment of cardiac anomalies is crucial for optimal survival
Prompt surgical repair is necessary for GI anomalies, most commonly, duodenal atresia and Hirschsprung
disease
Surgical intervention may be necessary to stabilize the upper segment of the cervical spine if neurologic
deficits are clinically significant
Congenital cataracts must be extracted soon after birth and subsequent correction with glasses or contact
lenses provided
Careful anesthetic airway management is needed because of the associated risk of cervical spine instability
Adenotonsillectomy may be performed to manage obstructive sleep apnea

POSSIBLE Nursing Diagnoses and Interventions

Diagnosis
Impaired verbal communication

Self Neglect

Psychosocial Implications
Risk for complicated grieving (family)
Spiritual distress (family)
Discharge Planning
Genetic counseling
Standard immunizations and well child care

Interventions
Assess the language spoken, cultural considerations,
literacy level, cognitive level, and use of glasses and/
or hearing aids. A comprehensive nursing assessment
assists in understanding any communication
difficulties
Monitor individuals with acute or chronic mental
and complex physical illness for defining
characteristics for self-neglect. EBN & EB:Medical
and psychiatric conditions probably underlie most
cases of self-neglect, as demonstrated in this sample
of impaired older adults

 Management of specific manifestations of Down syndrome and associated conditions (eg, endocrine,
infectious, cardiac, respiratory, neurologic, psychiatric, dermatologic, or dental disorders)

Early intervention programs

Teaching Needs: Acute illness and home care

Most children with Down syndrome are cared for at home and attend special education classes with
occasional mainstreaming. Balanced nutrition and exercise are increasingly important to prevent obesity. All
Down syndrome children should be checked for atlantoaxial (first cervical vertebra or atlas and second
cervical vertebra or axis) instability. The child's participation in self-care, recreational, vocational,
educational, and social opportunities to his or her maximum capabilities is encouraged. Other children in the
family require emotional support from parents and trusted teachers and counselors. Adult patients may live
in a group home facility or work in a sheltered workshop. The family also is encouraged and assisted to
investigate opportunities for the child, such as Special Olympics, sheltered workshops, and residential care
settings and to use available support services and organizations, such as the National Down Syndrome
Congress or the National Down Syndrome Society
Prevention/Health Promotion
The importance of amniocentesis in detecting the syndrome is explained to the at-risk pregnant woman and
her partner or support person. Amniocentesis is recommended for women over age 34 even with a negative
family history, as well as for a pregnant woman of any age when she or the father carries a translocated
chromosome. Information includes 1) the test can be conducted at anytime after the 14th week of pregnancy
(when sufficient amniotic fluid is present); 2) only a small amount of fluid will be removed, and 3) the
potential for complications to the fetus or woman is less than 1%.
Throughout the procedure, emotional support is provided, and explanations are reinforced. Following the
procedure, fetal heart rate is monitored for 30 min., and the woman is assessed for uterine contractions. If test
results are positive, the patient is referred for genetic counseling. If she elects to have a therapeutic abortion,
physical and emotional support are provided throughout and after the procedure, and postprocedure care is
explained.