Down Syndrome, or Down's Syndrome Trisomy 21, or Trisomy G: Failure To Thrive

You might also like

Download as docx, pdf, or txt
Download as docx, pdf, or txt
You are on page 1of 5

Down syndrome, or Down's syndrome trisomy 21, or trisomy G, is a chromosomal disorder caused by the

presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in
1866. The disorder was identified as a chromosome 21 trisomy. The condition is characterized by a combination of major and minor differences
in structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial
characteristics. Down syndrome in a fetus can be identified with amniocentesis during pregnancy or in a baby at birth.

microgenia (abnormally small chin),[3] oblique eye fissures with epicanthic skin folds on the inner corner of the eyes (formerly known as a
mongoloid fold),[4] muscle hypotonia (poor muscle tone), a flat nasal bridge, a single palmar fold, a protruding tongue (due to small oral cavity,
and an enlarged tongue near the tonsils) or macroglossia,[4] a short neck, white spots on the iris known as Brushfield spots,[6] excessive joint
laxity including atlanto-axial instability, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, and a
higher number of ulnar loop dermatoglyphs. Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate
(IQ 35–50) range,[7] with individuals having Mosaic Down syndrome typically 10–30 points higher.[8] They also may have a broad head and a very
round face.

Retinopathy of prematurity (ROP), previously known as retrolental fibroplasia (RLF), is an eye disease that affects
prematurely born babies. It is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and retinal
detachment. ROP can be mild and may resolve spontaneously, but may lead to blindness in serious cases. As such, all preterm babies are at risk
for ROP, and very low birth weight is an additional risk factor. Both oxygen toxicity and relative hypoxia can contribute to the development of
ROP.

Necrotizing enterocolitis (NEC) is a medical condition primarily seen in premature infants, [1]
where portions of the bowel undergo
necrosis (tissue death).

The condition is typically seen in premature infants, and the timing of its onset is generally inversely proportional to the gestational age of the
baby at birth, i.e. the earlier a baby is born, the later signs of NEC are typically seen. Initial symptoms include feeding intolerance, increased
gastric residuals, abdominal distension and bloody stools. Symptoms may progress rapidly to abdominal discoloration with intestinal
perforation and peritonitis and systemic hypotension requiring intensive medical support.

TTN, also called "wet lungs" or type II respiratory distress syndrome, usually can be diagnosed in the hours
after birth. It's not possible to detect before the birth whether a child will have it.

TTN can occur in both preemies (because their lungs are not yet fully developed) and full-term babies.

Newborns at higher risk for TTN include those who are:

 delivered by cesarean section (C-section)


 born to mothers with diabetes
 born to mothers with asthma
 small for gestational age (small at birth)

Signs and Symptoms of TTN

Symptoms of TTN include:

 rapid, labored breathing (tachypnea) of more than 60 breaths a minute


 grunting or moaning sounds when the baby exhales
 flaring nostrils or head bobbing
 retractions (when the skin pulls in between the ribs or under the ribcage during rapid or labored breathing)
 cyanosis (when the skin turns a bluish color) around the mouth and nose

FAILURE TO THRIVE
Sign of inadequate growth resulting from inability to obtain or use calories required for growth

No universal definition

Common parameter: WEIGHT, sometimes height that falls below 5 th percentile for child’s age

Weight for age (height) z value of less than -2.0

Weight curve (loss) that crosses >2 percentile lines on National Center for Health Statistics (NCHS) growth after previous
achievement of a stable growth pattern.

3 GENERAL CATEGORIES:

 Organic Failure to Thrive

 Physical Cause

 Congenital heart defects, neurologic lesions, cerebral palsy, microcephaly

 Chronic renal failure, gastroesophageal reflux

 Malabsorption syndrome, endocrine dysfunction

 Cystic fibrosis, acquired immunodeficiency syndrome (AIDS)

 Nonorganic Failure to Thrive (NFTT)

 Unrelated to disease

 Result of psychosocial factors – inadequate nutritional information by parent

 Deficiency of maternal care of disturbance in maternal-child attachment

 Disturbance in child’s ability to separate from parent leading to food refusal to maintain attention

 Idiopathic Failure to Thrive – unexplained by usual organic and environmental etiologies but may also be classified as
NFTT.

CLINICAL MANIFESTATIONS:

 Growth Failure – 5th percentile in weight only or weight and height

 Developmental delays – social, motor, adaptive, language

 Apathy

 Poor hygiene

 Withdrawn behavior

 Feeding/ eating disorder: vomiting, anorexia, pica, rumination

 No fear of strangers (stage when stranger anxiety is normal)

 Avoidance of eye contact

 Wide-eyed gaze & continual scan of environment (radar gaze)

 Stiff & unyielding or flaccid & unresponsive


 Minimal smiling

THERAPEUTIC MANAGEMENT:

 Directed as reversing the malnutrition & underlying cause

 Goal: provide sufficient calories to support “catch up” growth

 Treat any coexisting problems

 Multidisciplinary team: physician, nurse, dietitian, gastroenterologist, child-life specialist, social worker or mental health
professional

 Relieve any additional stresses on family – referrals to welfare agencies or supplemental food programs

 FAILURE TO THRIVE

 THERAPEUTIC MANAGEMENT:

 Family therapy

 Behavior modification

 Hospitalization indications:

 Evidence (anthropometric) of severe acute malnutrition

 Child abuse / neglect

 Significant dehydration

 Caretaker substance abuse or psychosis

 Outpatient management that does not result in weight gain

TEMPERATURE CONTROL IN THE NEWBORN


Babies should be nursed in a thermal neutral environment:
That is an environmental temperature in which the neonate is able to maintain a normal core temperature (36.5 –37.5) With minimum oxygen and
calorific expenditure. The neutral thermal environment is affected by gestation, age and weight.
Heat regulation mechanisms are poor in the newborn. The neonate has a large surface area to body mass.
Babies at risk of temperature instability.
Premature, low birth weight small for gestational age.
Intrauterine Growth retardation Due to low supplies of brown fat.
Neonates with congenital abnormalities that increase the surface area i.e. meningocele
Infants with conditions that affect the central nervous system.
Intracranial haemorrhage, Drug narcosis, Asphyxia
Sepsis (May also cause hyperthermia)
Requiring prolonged resuscitation at delivery.
Methods of heat loss are:
Radiation of heat from the body
Conduction by lying on cold surfaces
Convection by currents of cold air
Evaporation from the skin.
Even mild cold stress results in significantly reduce survival.
The effects of cooling are:
Peripheral Vasoconstriction
Increasing acidosis Leading to apnoea and bradycardia.
Hypoxia
Increased calorific expenditure leading to hypoglycaemia
Decreased surfactant production worsening respiratory distress
Metabolism of brown fat stores leading to hypoglycaemia and interference of bilirubin binding leading to hyperbilirubinaemia.

Incubator care

New born babies take time to accustom to the external environment specially if they one premature and low birth weight. As they are on
risk to develop hypoxia, hypothermia and other many associated adverse conditions, need special care and attention.

The term incubation has derived from a latin word ‘Incubare’ that means “lie on”. Incubation is the process of providing an environment
to keep them worm and suitable for their development as birds sit on their egg to hatch them.

Similarly, Incubator is an apparatus used to care the premature, low birth weight and very sick babies in thermo neutral environment.

Application of oil or liqud paraffins to the skin of the babies either inside the incubator or outside reduces the heat loss by 50%. If is very
essential for baby to obtain an ideal environment for growth and development, basically survival itself.

Thus about one third of nursery beds schedule comprises of incubators.

Indications: Indication of incubation care depends on ability of neonates to sustain and adopt in external environment. But generally all
premature babies, babies with low birth weight (<1000g) may be stable, hypothermic child (<32˚c), Sick children need luenbotor and its care.

Frequently incubator is used to transport babies from one place to another, like referral to another hospital, within the hospital for
various investigations e.g. CT scan & MRI. Neonates who need close observation are also kept in the incubators.

Purpose: Main purpose of keeping and caring a neonate in incubator are

1. Maintenance of thermoneutral ambient temperature


2. Provision of desired humidity and oxygenation
3. Observation of very sick neonates
4. Isolation newborn babies from infections, unfavorable external environment and stimulations.
Types:

Incubation can be of various types

1. Portable and non portable– Portable incubation can be used to shift the patient to another area of hospital as needed.
2. Open box type- It is also known as Armstrong, here neonate is keep on the Plexiglas bassinet to keep unstable babies or newly born
babies. A radiant warmer can be attached if child needs. The main disadvantage of this type of incubator is it can not maintain
thermoneutral environment if lids are open frequently. Despite it can not filter the air and neonate is directly in the contact with
external environment. It has only advantage that neonate in this incubator can be observed well and can be handled easily.
3. Close type- Close type of incubator has special function to concentrate fresh air after filtration. It prevents water loss from
radiation. As neonate remain inside the box the risk f infection is minimum.
4. Double walled- The incubator has two walls. As air is not good conductor of heat the incubator prevents heat and fluid loss.
5. Servo control incubator- It is best type of incubator and most frequently desired. It is automatically operated and set the
parameters as per need of neonate. Skin sensor or thermo capsule is affixed with the abdominal wall of neonate midway between
umbilicus and xiphisternum, and incubator is set to maintain desired temperature at 36 0c. The skin sensor feeds the information
regarding skin temperature to the thermostat which automatically regulates the output of heat to maintain the desired
temperature of neonate. It is also provided with inbuilt audio visual alarm for set temperature with upper and lower desired
temperature, air flow and probe failure. Inbuilt heat monitor provides information regarding the amount of heat generated by
incubator to keep the neonate warm. When the heater output reading is minimal or nil it suggests that neonate is capable of
generating enough metabolic rate of heat to keep himself warm and neonate can be taken out of incubator or nursed in open
cot .Recent models of incubator have arming systems which even suggests the actions to be performed.
Ideal settings of incubator-

Setting of incubator depends upon various parameters of neonate as well as environment e.g. gestational age, maturity, body
temperature and presence or absence of disease. Recommended Nursery temperature is 28-30 0c. The incubator temperature should be
such as it will maintain the temperature of neonate between 35-37 0c.

Neutral range of Environmental temperature


Birth weight in grams
Age
<1200 1201- 1500 1501-2500 >2500
1st day 35.0 ± 0.5 34.3 ± 0.5 33.4 ± 1.0 33.0 ± 1.0
2nd Day 34.5 ± 0.5 33.7 ± 0.5 32.7 ± 1.0 32.0 ± 1.0
3rd Day 34.5 ± 0.5 33.5 ± 0.5 33.0 ± 1.0 32.0 ± 1.0
th
4 Day and later 33.5 ± 0.5 32.8 ± 0.5 32.2 ± 1.0 31.5 ± 1.0
A humidity of 60-70% is sufficient under most circumstances.

Oxygen delivery inside the incubator depends on wellbeing and ability of neonate to adapt in external environment but 7-10 lit/min of
Oxygen provides adequate oxygen to the neonate unless neonate has some pathology.

Procedure-

 Warm and oxygenate the incubator as you receive the message of expected arrival of neonate, generally 10-15 minutes earlier.
 Check the physician’s order.
 Explain the needs of incubator care to the parents of neonate.
 Adjust the incubation parameters and maintain, follow the chart.
 Remove the cloths of the neonate and place inside the incubator.
 Provide meticulous care as long neonate remains in side.
 Continue care through port hole.
 Report to the doctor if baby is not maintaining the temperature, generally after two abnormal readings.
 Do not bring the neonate out without justifiable cause.

 Document time and condition of the neonate.

You might also like