Ryan

Ryan

1. Down's syndrome

   •    Down syndrome is the most common chromosomal abnormality of a generalized syndrome, occurring in 1 in 691 live births in the United States. It occurs in people of all races and economic levels.   The cause of Down syndrome is not known, but evidence form cytogenetic and epidemiologic studies supports the concept of multiple causality. Although the cause is unclear, the cytogenetics of the disorder are well established. Approximately 95% of all cases of Down syndrome are attributable to an extra chromosome 21 (group G), hence the name nonfamilial trisomy 21. Although children with trisomy 21 are born to parents of all ages, there is a statistically greater risk in older women, particularly those older than 35 years of age. For example, in women 35 years of age, the chance of conceiving a child with Down syndrome is about 1 in 350 live births; but in women 40 years of age, it is about 1 in 100. However, the majority (≈80%) of infants with Down syndrome are born to women younger than 35 years of age, because younger women have higher fertility rates. About 4% of the cases may be caused by translocation of chromosomes 15 and 21 and 22. This type of genetic aberration is usually hereditary and is not associated with advance parental age. About 1% of affected people demonstrate mosaicism, which refers to a mixture of normal and abnormal chromosomes in the cells. The degree of cognitive and physical impairment is related to the percentage of cells with the abnormal chromosome makeup.   Down syndrome can usually be diagnosed by the clinical manifestations alone, but a chromosome analysis should be done to confirm the genetic abnormality. Several physical problems are associated with Down syndrome. Many of these children have congenital heart malformations, the most common being septal defects. Respiratory tract infection are prevalent and, when combined with cardiac anomalies, are the chief causes of death, particularly during the first year of life. Hypotonicity of chest and abdominal muscles and dysfunction of the immune system probably predispose the child to the development of respiratory tract infection. Other physical problems include thyroid dysfunction, especially congenital hypothyroidism, and an increased incidence of leukemia.   The clinical manifestations of Down syndrome show in various parts of the body. The head and eyes display a separated sagittal suture, brachycephaly, rounded and small skull, flat occiput, enlarged anterior fontanel, oblique palpebral fissures (upward, outward slant), inner epicanthal folds, and spleckling of iris (Brushfield spots). The nose and ears display a small nose, depressed nasal bridge (saddle nose), small ears and narrow canals, short pinna (vertical ear length), overlapping upper helices, and conductive hearing loss. The mouth and neck display a high, arched, narrow palate; protruding tongue; hypoplastic mandible; delayed teeth eruption and microdontia; abnormal teeth alignment common; periodontal disease; neck skin excess and laxity; and short and broad neck. The chest and heart show a shortened rib cage, twelfth rib anomalies, pectus excavatum or carinatum, and common congenital heart defects (e.g., atrial septal defect, ventricular septal defect). The abdomen and genitalia display protruding, lax, and flabby abdominal muscles; diastasis recti abdominis; umbilical hernia; small penis; cryptorchidism; and bulbous vulva. The hands and feed display broad, short hand and stubby fingers; incurved little finger (clinodactyly); transverse palmar crease; wide space between big and second toes; plantar crease between big and second toes; and broad, short feet and stubby toes. The musculoskeletal and skin show a short stature; hyperflexibility and muscle weakness; hypotonia; atlantoaxial instability; dry, cracked, and frequent fissuring; and cutis marmorata (mottling). Other clinical manifestations include reduced birth weight; learning difficulty (average intelligence quotient [IQ] of 50); hypothyroidism common; impaired immune function; increased risk of leukemia; and early-onset dementia (in one-third).    References Hockenberry, M. J. (2018). Impact of cognitive or sensory impairment on the child and family. In S. E. Perry, D. Leonard Lowdermilk, K. Cashion, K. Rhodes Alden, E. F. Olshansky (Assoc. Ed.), M. J. Hockenberry, D. Wilson, & C. C. Rodgers, Maternal child nursing care (6th ed.), (pp. 1024-1046). St. Louis, MO: Elsevier, Inc.  
   • Atrial septal defect
     • Atrial Septal Defect
     • Weight loss
     • Disinterest in eating
     • Diarrhea
     • Current wt 7 kg
     • Temp 36.5; Pulse 80; Resp 48
     • K+ 2.9; Digoxin level 2.5
     • Decreased cardiac output related to structural factors of congenital heart defect as evidenced by shortness of breath, heart murmur, and lethargy
       • Administer medications as prescribed
         • Furosemide
           • K+ 2.9
         • Digoxin
           • Digoxin level 2.5
       • Provide adequate rest periods
         • Lethargy
         • Shortness of breath when crawling
         • Resp 48
       • Assess heart rate and blood pressure
         • Pulse 80
       • Note skin color, temperature, and moisture
         • Temp 36.5
       • Position child in semi-Fowler's position
         • Shortness of breath
         • Lethargy
         • Resp 48
       • Inspect fluid balance and wt
         • Diarrhea
         • Wt loss
         • Current wt 7 kg
         • Disinterest in eating
     • Compromised family coping related to situational and developmental crises of family and child as evidenced by fear about infants condition and need for surgery
       • Encourage expression of feelings and provide factual information about infant
       • Assess usual family coping methods and effectiveness
       • Clarify any misinformation and answer questions regarding disease process
       • Instructs parents in nutritional and activity needs and/or limitations and approaches that will assist in establishing an effective pattern
       • Suggest and reinforce appropriate coping behaviors, support family decisions
     • Activity intolerance related to generalized weakness and imbalance between oxygen supply and demand as evidenced by the need to rest after short period of play and exertional dyspneai
       • Assess level of fatigue, ability to perform ADL and other activities in relation to severity of the condition
         • Lethargy
       • Allow for rest periods between care; disturb only when necessary for care and procedures
         • Lethargy
         • Shortness of breath
       • Assist parents to plan for care and rest schedule
         • Lethargy
         • Shortness of breath when crawling
       • Provide neutral environment temperature; when bathing infant, expose only the area being bathed and keep the infant covered to prevent heat loss
         • Temp 36.5
     • Risk for injury related to cardiac function compromised by congenital defects as evidenced by lethargy, heart murmur, and shortness of breath
       • Monitor orders for diagnostic tests and procedures
         • Surgical repair
         • K+ 2.9; Digoxin level 2.5
       • Assist and support family's feelings and decision regarding surgery
       • Teach parents actions to take if the child becomes cyanotic and when to call the physician
     • Chest x-ray
     • ECG
     • Doppler transthoracic echocardiography
     • Transesophageal echocardiography
     • Cardiac MRI
     • CT angiography
     • Surgical repair
   • Heart murmur
     •    A heart murmur is a category of heart sounds, which are produced by vibrations within the hear chambers or in the major arteries from the back-and-forth flow of blood.   Murmurs are classified as: Innocent: No anatomic or physiologic abnormality exists. Functional: No anatomic cardiac defect exists, but a physiologic abnormality (such as, anemia) is present. Organic: A cardiac defect with or without a physiologic abnormality exists.   The description and classification of murmurs are skills that require considerable practice and training. In general, recognize murmurs as distinct swishing sounds that occur in addition to the normal hear sounds, and record the (1) location, or the area of the heart in which the murmur is heard best; (2) time of the occurrence of the murmur within the S1-S2 cycle; (3) intensity (evaluate in relationship to the child’s position); and (4) loudness. The subject measures used to grade the loudness or intensity of a murmur. Grade I: Very faint; often not heard if child sits up; Grade II: Usually readily heard; slightly louder than grade I; audible in all positions; Grade III: Loud, but not accompanied by a thrill; Grade IV: Loud, accompanied by a thrill; Grade V: Loud enough to be heard with a stethoscope barely touching the chest; accompanied by a thrill; and Grade VI: Loud enough to be heard with the stethoscope not touching the chest; often heard with the human ear close to the chest; accompanied by a thrill.     References   Hockenberry, M. J. (2018). Communication and physical assessment of the child and family. In S. E. Perry, D. Leonard Lowdermilk, K. Cashion, K. Rhodes Alden, E. F. Olshansky (Assoc. Ed.), M. J. Hockenberry, D. Wilson, & C. C. Rodgers, Maternal child nursing care (6th ed.), (pp. 741-792). St. Louis, MO: Elsevier, Inc.   
   • Birth wt 3.2 kg