Maturation Science Final Exam

How many weeks is considered preterm?

<37-38

How many weeks is considered extremely preterm?

<28 weeks

How many weeks is considered very preterm?

28 to <32 weeks

How many weeks is considered moderate to late preterm?

32 to <37 weeks

Risk factors for premie birth?

• maternal age <19 years, >40 years

• high BP after 20 weeks

• premature rupture of placenta

• race/ethnicity (African American higher risk)

• low socioeconomic status

• use of drugs/smoking

Autonomic signs of stability?

• pink color

• regular respiration

• stable digestion

Autonomic signs of stress?

• pale

• mottled

• flushed

• gasping

• tachypnea

• hiccups

• yawning

• sneezing

• spitting up

Motor signs of stability?

• smooth movements

• controlled posture

• clasping of hand

• hand to mouth

Motor signs of stress?

• jerky movements

• minimal movement

• weak/flaccid

• arching

• finger/toe splaying

State signs of stability?

• well defined sleep states

• focused alertness

• some facial expressions

State signs of stress?

• diffuse sleep with twitching

• gaze aversion

• weak cry

• fussing

How does muscle tone develop after birth for premature babies?

<28 weeks: flaccid
32-35 weeks: LE tone develops
35-37 weeks: UE tone develops
36-40 weeks: trunk tone develops

**develop from bottom to top (normally develop top to bottom when born full term)

little or no physiologic flexion
African heritage: higher tone
Asian and Native American: lower tone

How do reflexes develop after birth for premature babies?

• present at 28 weeks PCA

• not easily elicited

• first seen in LE then UE

• orderly sequence

• may see toe walking with automatic walking

How does PROM vary for premature babies when compared to full term?

• More flexibility

• Less likely to have contractures

How does active movement vary for premature babies when compared to full term?

• large, gross movements

• disorganized

• variable

How does premature birth impact resting posture?

• very influenced by gravity

• UE and LE abduction

• UE and LE ER

• rotation of cervical spine

• retracted scapula

• influence on skull shape

  • still going through ossification

  • need to be rotated to avoid flat spots

Premature birth tactile system

• begins development at conception

• constant NICU procedures

• less responsive to touch

• may lack the ability to respond to pain

Tactile system infant responses

• increase BP

• increase HR

• increase intracranial pressure or startle

Development of vestibular system

• one of first to develop in utero

• womb provides stimulation

• slow rocking = promote calming

• fast stimulation = increases alertness

Development of olfactory and gustatory systems

• taste buds being to mature at 13 weeks

• 24 weeks: swallows 1L amniotic fluid/day

• NICU: endotracheal tubes, medications no constant practice

Development of auditory system

• 24 weeks: cochlea and peripheral sensory end organs are complete

• 28 weeks: hearing threshold = 40 db

Sound level 1

• 60-74 dB

• arousal to discomfort

• ordinary conversation = 60 dB

• ringing phone = 65 dB

Sound level 2

• 81-96 dB

• discomfort to damage

• bubbling ventilator = 87 dB

• closing portholes = 90 dB

Sound level 3

• 101-108 dB

• damage to pain

• subway train = 100 dB

  • setting bottle on isolate = 108 dBA

Auditory system infant responses

• increased ICP

• increased startle response

• decreased sleep

• decreased auditory discrimination

Development of visual system

• least mature at term birth

• 22-24 weeks: major eye structures and pathways in place

• <32 weeks: pupillary reflex absent, leads to fatigue

• prefers human faces, tracks in arc

State organization stage order

• deep sleep

• light sleep

• drowsy

• quiet awake

• active awake

• crying

Full term state organization

• sustained quiet awake states

• transitions smooth

Preterm state organization

• dominant sleep state

• more motor during sleep

• difficulty with changes between states

• more restless and excitable

Intraventricular hemorrhage (IVH)

• bleeding around lateral ventricles

• most common brain lesions <32 weeks

• due to the fragile nature of vasculature, hypoxia, or frequent swings in BP

• grades I and II: minimal long-term deficits

• grades III and IV: increase in long term deficits (more likely to develop CP)

Periventricular leukomalacia (PVL)

• necrosis of white matter surrounding lateral ventricles

• seen in <32 weeks GA, with cardiorespiratory issues

• due to immature circulation, decreased oxygen

• correlated with CP (spastic dip[legia)

• >2 mm cysts at 1 mos, 95% predictive of CP

Bronchopulmonary dysplasia (BPD)

• chronic lung disease-thickening of lung walls

• due to long term mechanical ventilation, RDS, PH, infection

• long term outcomes vary (depends on how long they have been on oxygen)

Respiratory distress syndrome (RDS)

• respiratory failure due to lung immaturity and decreased surfactant

• seen in 20% of all preterm infants

  • first 1-2 days

• see increased respiratory rate, grunting, retractions, cyanosis

• precursor to BPD

• treat with surfactant can help avoid chronic changes

Patent ductus arteriosus (PDA)

• occurs when ducts arteriosus fails to close

• ductus arteriosus allows blood to bypass circulation to lungs, closes 10-15 hours after birth

• see murmurs, increase HR, respiratory distress

• may resolve on own

Necrotizing enterocolitis (NEC)

• acute inflammation and necrosis of immature intestine

• etiology unknown

  • possibly due to infection, toxins, injury to GI tract

• see bloody stools, vomiting bile or blood, apnea, lethargy, temperature instability

Gastroesophageal reflex (GER)

• movement of gastric contents into esophagus and above

• due to relaxation of lower esophageal sphincter

• see irritability, apnea (if severe), failure to thrive (if severe)

• usually resolves with maturation

Retinopathy of prematurity (ROP)

• abnormal growth of blood vessels in immature retina

• due to increased oxygen concentration, hypoxia, IVH, sepsis, RDH

• may lead to blindness if severe

• treatments: laser surgery, cryotherapy, injection of Avastin, glasses

Methods to improve outcomes for extreme premies

• steroids

• surfactant

• antenatal magnesium sulphate

• delayed cord clamping

• family bonding

APGAR assessment

• appearance, pulse, grimace, activity, respiration

• assesses HR, respiratory effort, reflex irritability, tone, color

• scored 0-2 (2 best)

• assessed at birth and 5 minutes

• <6: resuscitation

• 8-10: typical

Neonatal behavioral assessment scale (NBAS)

• Brazelton

• assesses neurobehavioral function of those full term 37-48 weeks PCA and supplemental items for premies

• 30-45 min administration with extensive training

Assessment of preterm infant behavior (APIB)

• assessment of neurobehavioral functioning of high-risk infant 32 weeks PCA and above

• 1-3 hours with intensive training

Neonatal Neurobehavioral Exam (Morgan)

• assesses neurobehavioral status of infants 32-42 weeks PCA

• items: tone/motor patterns, reflexes, behavioral responses

• 5-20 min administration

• lack standardization

Neurological assessment of preterm and full-term newborn infant (Dubowitz)

• documents the gestational age of preterm infants’ neurological maturation

• used with full-term infants to 3rd day of life or with preterm infant who tolerates handling

• quick

• performed by physician

Test of infant motor performance (TIMP)

• assess infants functional motor behavior

• 34 weeks PCA to 4 months corrected age

• 24-45 min

• training required

• developed by pT

• high interrater reliability

Harris infant neuromotor test (HINT)

• assesses low or high risk infants 2.5 to 12.5 months

• discriminates between those low and high risk delay at ages 4, 5, 7, 8 months

• higher test-retest, intra-rater and inter-rater reliability

Prechtl’s assessment of general movements (GMA)

• observation of general movement patterns that being early in fetal life (5 weeks)

• video tape for 3-5 min

• specialized training

• predictive of CP, administered before 5 months corrected age

Hammersmith infant neurological examination (HINE)

• assess children 2-24 months

• good interrater reliability

• specialized training

• predictive value for CP, type, severity

Alberta infant motor scale (AIMS)

• assesses term to 18 months or until indep ambulation, premie or full term

• motor development measurement for infants at risk for delay

• focuses on milestones

• valid, reliable, norm references

• predicts motor delays

NICU PT interventions

• positioning

• sensory stimulation/environmental controls

• feeding

• gross motor development

• education

• splinting

PT interventions after DC

• gross motor delay and differences in quality of movement

• developmental intervention, positioning, sensory stimulation, splinting, education

Cystic fibrosis etiology

• autosomal recessive disorder

• multisystem disease

• characterized by chronic bacterial infection of the airways

• mutation in the genes that encode the CF transmembrane conductance regulator protein (CFTR)

  • chromosome 7: 3-bp deletion is most common

  • abnormality in a membrane chloride channel: results in altered chloride transport and water flux across the apical surface of epithelial cells

Cystic fibrosis pathophysiology

• abnormalities in the CFTR protein makes epithelial cells impermeable to chlorine, which results in

  • dehydration results in thick, viscous mucous gland secretions causing mechanical obstruction

  • obstruction in the lungs predisposes the lung to infection and causes atelectasis with hyperinflation

  • in pancreas, mucous blocks the channels that carry important enzymes to the intestines to digest food, preventing the body from properly processing/absorbing nutrients

CF genetic screening in prenatals

• Genetic counseling: CF carriers can be identified (70% effective — mutated DF508)

• DNA analysis of oocytes

CF genetic screening in newborns

• genetic screening: gene on chromosome 7

  • 37 states

• ½ of all infants present with failure to thrive and/or respiratory failure

CF sweat test values

• gold standard for diagnostic test

• normal = 40 mEq/L

• abnormal NaCl > 60 mEq/L for those under 20 years

• abnormal NaCl > 80 for those over 20 years

**positive test may not be diagnostic by itself

CF pancreatic elastase-1 (EL-1)

• marker of severe exocrine pancreatic insufficiency

• measured in feces

• can be used to rule out CF if normal

CF sweat test part 1

• pilacarpine is applied to leg or arm

• electrode placed over the chemical

• weak electric current applied to initiate sweating

CF sweat test part 2

• skin is cleared

• sweat is collected on filter paper, plastic coil, or gauze

• sent to lab after 30 min

• measure amount of chloride in sweat

CF lung function tests

• used to monitor lung function in people with CF

• performed in those 6+

CF in infancy symptoms

• failure to thrive

• compromised respiratory system

**milder presentation likely if diagnosed in adulthood

CF clinical features

• salty taste when kissed

• bulky, frothy and foul-smelling stools

• hyperglycemia

• rectal prolapse

• poor nutrition and weight loss

• chronic cough and purulent sputum production

• barrel chest, pectus carinatum, and kyphosis

• hypoxia, clubbing, cyanosis

• reduced oxygen-carbon dioxide exchange

• exacerbation of pulmonary disease

• liver disease

• infertility

• amenorrhea

• muscle pain

• excessive kyphosis, neck and back pain

• clubbing

• increased incidence of Crohn’s and ischemic bowel disease

What causes the salty taste when kissed in pts with CF?

increased sodium and chloride concentrations in sweat

What causes bulky, frothy and foul smelling stools in pts wit CF?

• blocked pancreatic ducts

• impairing nutrient digestions and absorption

What causes hyperglycemia in pts with CF?

• pancreatic damage affecting beta-cells

• CF-related diabetes

What causes rectal prolapse in pts with CF?

• intestinal obstruction

• thickened, dried or impacted stools

What causes poor nutrition and weight loss in pts with CF?

• malabsorption

• early satiety

• increased utilization of calories

What causes barrel chest in pts with CF?

• chronic pulmonary infection

• hyperinflation due to retained mucous

CF prognosis

• no cure

• respiratory failure is the leading cause of death

• diagnosis in adulthood generally due to milder presentation

• more than 50% live into adulthood

• males better prognosis than females

What do GI symptoms at diagnosis of CF indicate?

good clinical course

What do pulmonary symptoms at diagnosis of CF indicate?

clinical deterioration

CF medical management

• oriented toward alleviating symptoms

• pulmonary intervention

• pharmacotherapy

• nutrition high calorie diet

• gene therapy

• transplantation

  • double lung

  • heart lung

  • liver

• supplemental oxygen

CF medications

• digestive tract medications (Creon, Pancreaze, Zenpep)

• vitamins (A, D, E and K)

• reflux medications (Zantac, proton pump inhibitors - prevacid, prilosec)

• laxatives (Lactulose, MiraLax, Actigall)

• mucolytics and bronchodilators

• corticosteroids

• antibiotics

Role of PT in CF patients

• chest PT/breathing activities

• exercise

• education

• pain management

Chest PT/breathing activities for CF

• percussion and postural drainage

• flutter device, incentive spirometer

• pursed lip breathing, active cycle of breathing techniques, segmental breathing

Exercises for CF

• includes strengthening, stretching, aerobic and endurance components

• UE: arm aerobic exercise, arm ergometry or free weights

• LE: walking, jogging, rowing, cycling and swimming

• stretching of chest

Education for CF

• drink fluids to avoid dehydration

• avoid triggers that increase mucus production

• teach family techniques for chest clearance

• use of devices

• importance to do all of these techniques to get the best outcomes

What is osteogenesis imperfecta?

• brittle bone disease

• disorder of collagen synthesis leads to recurrent fractures and deformation

Causes of osteogenesis imperfecta

• most inherit from parent (autosomal dominant inheritance)

• 25% of cases caused by genetic mutation occurring spontaneously

Osteogenesis imperfecta pathophysiology

• due to defect in collagen synthesis

• more than 150 mutations identified (all affecting genes that code for type 1 collagen)

  • type 1 collagen: major structural component in ECM of bone, skin and tendons

• mutated genes instruct body to make too little type 1 collagen or abnormal polypeptide chains that cannot form the triple helix of type 1 collagen

Type 1 osteogenesis imperfecta collagen production

reduced by 50%

Type 2 osteogenesis imperfecta collagen production

reduced by 80%

Diagnostic tools for osteogenesis imperfecta

• DNA testing

• prenatal ultrasound

• fetal 3D CT scan

• human chorionic villus biopsy

• DEXA: low bone mineral density

• x-ray films

Type 1 osteogenesis imperfecta

• most common

• mildest clinically

• two types

  • A: teeth are normal

  • B: dentinogenesis imperfecta is a feature (abnormal tooth development)

• grayish-blue sclerae at birth

• mild to mod bone fragility

• osteopenia

• mild femoral bowing at birth

• generalized ligamentous laxity with joint hypermobility

• 50% develop hearing loss by teens

Type 2 osteogenesis imperfecta

• most severe form

• lethal: mainly due to pulmonary complications from rib and vertebral fractures

• severe bone fragility

• at birth, short limbs, small chests, and soft skulls

• sclerae dark blue or gray

• intrauterine fractures common

• respiratory and swallowing problems

Type 3 osteogenesis imperfecta

• severe form

• usually result of new mutations

• fractures and deformities from utero

• large skull (upper portion), triangular face

• dentinogenesis imperfecta

• blue to pale blue sclerae

• healing is impaired

• severe osteopenia

• severe disorganization of growth plate structure

• progressive kyphoscoloiosis

• early onset hearing loss

• very short stature

• lifespan may be shortened due to respiratory conditions

Type 4 osteogenesis imperfecta

• moderate form

• diagnosis can be made at birth but often occurs later

• normal birth weight and length

• two subsets

  • A: normal dentition

  • B: dentinogenesis imperfecta (majority)

• slightly gray sclerae

• moderate bone fragility

• mild femoral bowing at birth

• osteopenia occurs with aging

• scoliosis

• mild bone angulation

• child might not fracture until walking

Osteogenesis imperfecta prognosis

• Types I and IV: milder course, normal lifespan

• Type II: most severe, 90% die in first few weeks

• Type III: mortality related to cardiorespiratory failure stemming from kyphoscoliotic deformity

  • significant risk also exists of basilar invagination of the skull and intracranial bleeding

Osteogenesis imperfecta clinical features

• brittle bones

• joint hypermobility

• thin skin

• weak muscles

• diffuse osteoporosis

• shortened stature

• multiple recurrent fractures

• blue sclerae

• deformed teeth

• deafness

• hernias

• easy breathing

• excessive sweating

• scoliosis

• pectus deformity

osteogenesis imperfecta metabolic defects

• elevated serum

• pyrophosphate

• decreased platelet aggregation

osteogenesis imperfecta cardiovascular complications

• aortic and mitral valve insufficiency

• aortic dissection

Reasons for delayed development of motor skills in osteogenesis imperfecta

• poorly developed muscles

• hypermobility of joints

• multiple fxs requiring immobilization

osteogenesis imperfecta medical management

• no cure

• manage fractures

• promote function and independence

osteogenesis imperfecta fractures

• most heal well

• short-term immobilization

• prevention important

• treatment options

  • surgery

  • medications

  • healthy lifestyle

  • PT

osteogenesis imperfecta medications

• biphosphonate drugs: slows loss of bone, does not build new bone

• growth hormones

• stem cell therapies

• anti-sclerostin antibody

• current antibody studies

osteogenesis imperfecta healthy lifestyle

• adequate intake of calcium (maintain bone density), vitamin C (promote healing)

  • large doses not recommended

• avoid smoking, alcohol, caffeine, steroid medications

  • can affect bone density

• genetic counseling

Role of PT in osteogenesis imperfecta

• protective handling and positioning

• strengthening

• adaptive equipment

• ambulation

• post-surgery

• aquatics

• education/prevention

Type 1 osteogenesis imperfecta ambulation

• majority of children ambulate either as functional or household ambulators

• 50% walk without any type of AD as community ambulators

Type 3 osteogenesis imperfecta ambulation

½ are dependent on power mobility, with only 27% becoming household ambulators

Type 4 osteogenesis imperfecta ambulation

26% are community ambulators and 57% are household ambulators

What are the best predictors of ambulatory status?

• disease type

• ability to sit by 9 or 10 months of age