MSP 2 unit 5: congenital and developmental considerations

what is believed to be the cause of congenital abnormalities

physical, chemical, or microbial teratogens agents

what are examples of physical teratogens that can cause congenital disorders

x rays

radiation

exposure to atomic bomb

what are examples of chemical teratogens that can cause congenital disorders

industrial chemicals and drugs

alcohol

what are examples of microbial teratogens that can cause congenital disorders

viruses

bacteria

protozoal

parasites

what do teratogens do to the body

they exhaust or weaken the mother resulting in low body weight, retardation of growth, or premature deliveries

what are neural tube defects

birth defects that occur when the neural tube which forms the brain, spinal cord, and surrounding structures fails to close properly during development

when do neural tube defects typically occur

within the first month of pregnancy often before the woman knows she is pregnant

what is the cause of neural tube defects

not fully understood but it is though to be related to a combination of genetic and environmental factors such as folic acid deficiency

what can help to prevent neural tube defects

folic acid supplements before conception and during early pregnancy can reduce the risks

what occurs to the embryo 20 days after conception

it develops a neural groove which deepens at the two edges which fuse to form the neural tube

when does the upper end of the neural tube close and what does it form

on day 25 and forms the brain

when does the bottom end of the neural tube close and what does it form

on day 27 which forms the spinal cord

what are the three most common neural tube defect diseases

spina bifida occulta

meningocele

myelomeningocele

what is spinal bifida occulta

a congenital defect caused by improper fusion of the posterior vertebral arch during development

what can cause spina bifida

genetic predisposition

exposure to harmful substances

issues with folic acid

what re the symptoms of spina bifida

often none

what is meningocele

an external protrusion of the meninges through a vertebra; defect while the spinal cord remains in place preserving neurological function

what is the most severe neural tube defect

myelomeningocele

what is myelomeningocele

meninges and the spinal cord protrudes leading to significant neurological impairment like paralysis and sensory loss below the defect

what is down syndrome

an autosomal chromosome abnormality with trisomy 21

what are the two hypotheses for risks of down syndrome

increased maternal age during pregnancy

environmental factors influence the meiotic division of the maturing oocyte

what is the clinical presentation of down syndrome (12)

intellectual disability

early onset of Alzhiemers

heart and intestinal defects

infertility

shorter limbs

single palmar crease on hands

wide gap between 1st and 2nd toe

5th finger with clinodactyly

low bridged nose

closed epicanthal fold

gaping mouth

macroglossia

how is down syndrome diagnosed

prenatal diagnosis during the 10th to 14th week

what does an ultrasound show to diagnose down synfrom

nuchal translucency in the nape of the neck

what other tests are performed to confirm down syndrome in weeks 15-20

amniocentesis

biopsy of the chorionic villus

triple test to test alpha-fetoprotein, the human chorionic gonadotropin, and unconjugated estrogen levels

what is often seen with down syndrome that should be considered for PT

atlantoaxial instability

what activities should be down with caution due to atlantoaxial instability for individual with down syndrome

manual therapy

soccer

horse riding

fast moving rides

what surgical procedures are often done for individuals with down syndrome

surgical correction of congenital heart defects often in the second or third week of life

what can PT be used to help for individuals with down syndrome

speech therapy to improve eating skills

enhance motor skills

promote indeoendence

what are the MSK manifestations from down syndrome (5)

anomalous number of 11 ribs

joint laxity including atlantoaxial instability

dislocations

hip dysplasia

abnormal pelvis shape with flared iliac wings

what is the most common cardiovascular defect seen in individuals with down syndrome

atrioventricular septum defect

what is turner's syndrome

a congenital genetic conditions that affects females resulting from missing or partially missing X chromosome represented as 45,X0

what are the common characteristics of Turner syndrome (12)

short stature

delayed or absent puberty

infertility due to undeveloped ovaries

webbed neck

heart disease

coarctation of aorta

broad chest

cubitus valgus

streak ovaries

hypoplastic uterus

amenorrhea

lymphedema

what is marfan's syndrome

a genetic disorder that affects the body's connective tissue due to mutation in the FBN1 gene

what does the FBN1 gene do

encodes the protein fibrillin-1 which is essential for connective tissue integrity

what are the common presentations of marfan's syndrome (8)

slender build

dolichocephalic (tall head)

kyphoscoliosis

hyperlaxity

long spider like fingers

lens subluxation

risk of nearsightedness and retinal displacement

cardiovascular complication

what are the cardiovascular complications seen with Marfan's syndrome (2)

aortic aneurysm and dissection typically leading to rupture which is likely fatal

floppy mitral valve

what is cystic fibrosis

an autosomal recessive disease due to malfunction of chloride transportation across the cell membrane

how many cases of cystic fibrosis are asymptomatic

1 in 25 mostly Caucasian individuals

what are the common presentations of cystic fibrosis

excessive salt in sweat

what does cystic fibrosis effect in the body

all the glands

when there is a defect seen in sodium chloride in cystic fibrosis what occurs

the secretions of glands have less water and become viscous and thick which can obstruct the duct and organ

what are the symptoms of cystic fibrosis

GI tract obstructions

what can GI tract obstructions lead to

impaction, meconium peritonitis, and intussusception

what occurs to children due to cystic fibrosis

due to the mucous glands secreting thick discharge they don't function well or help with absorption leading to malnutrition

what can a blocked pancreas in cystic fibrosis lead to

indigestion due to no flow of pancreatic juice

what is the clinical presentation of cystic fibrosis

indigestion

malabsorption

steatorrhea (undigested fat in stools)

nutritional deficiencies

growth retardation

what occurs to the lungs and bronchi with cystic fibrosis

due to secreting thick mucus they are more prone to infection, chronic bronchitis, and pneumonia

how is cystic fibrosis diagnosis confirmed

determining the electrolytes in the sweat to confirm

what are the pharmacological goals for cystic fibrosis

maintain airway patency

limit mucus plug formation

control inflammation

slow progression

treat respiratory infections

decrease viscosity of secretions

what drugs are used to maintain air patency in cystic fibrosis

bronchodilators (albuterol/ventolin)

what are potential side effects of bronchodilators (3)

tachycardia

restlessness

tremors

what drugs are used to limit formation of mucus plugs in cystic fibrosis

Muccolytics (Dornase alfa/DNase)

what drugs are used to control inflammation and slow progression of cystic fibrosis

glucocorticoids (prednisone) and NDAIDs

how are glucocorticoids administered for cystic fibrosis

systemically rather than inhaled due to mucous secretions

what drugs are used to treat respiratory infections in cystic fibrosis

antibiotics (azithromyin/zithromax)

what drugs are used to decrease viscosity of secretions in cystic fibrosis

mucolyticsw

what should be ensured when doing PT with a pt with cystic fibrosis

they have their inhaler

how can PT help cystic fibrosis

combine med use with postural drainage and breathing techniques

what occurs to the bronchioles with cystic fibrosis

bronchial thickening (bronchiectasis)

what is muscular dystrophy

a genetic disease where there is progressive weakness. loss of strength, neuromuscular disorders, and can be symmetrical muscular wasting with or without sensory deficits

who is affected by muscular dystrophy

children

what is affected is muscular dystrophy

skeletal muscle. cardiac muscle, and other involuntary muscle

what will lab results show in muscular dystrophy

elevated creatine kinase in the blood due to muscle injury, muscle cell injury, and muscle cell damage

what is the most common and severe muscular dystrophy type

duchenne muscular dystrophy

who does Duchenne MD affect mostly

young boys

what is Becker MD

similar to Duchenne but more mild and progresses slower

what occurs to the body in Duchenne and Becker MD

lack of skeletal muscle protein dystrophin

what is facioscapulohumeral dystrophy

autosomal dominant disorder of MD that affects the muscles of the face, shoulder, and upper arms in early adolescence

what is limb girdle MD

autosomal recessive disorder of muscular dystrophy that weakens the muscle of the hips and shoulder first in late childhood or adolescence

will the affected parents of limb girdle MD exhibit the disorder

no

what is the chance in each pregnancy producing a child with Limb girdle MD

1 in 4

what is myotonic dystrophy

MD that causes muscle stiffness and weakness

what is congenital MD

MD that is present at birth

what types of MD are X linked recessive

Duchennes and Beckers

who is affected more is Duchenne and Beckers MD

men

who carries the x linked recessive gene for Duchenne and Beckers MD

females

what are the pharmacological treatments for muscular dystrophy

glucocorticoids

gene based therapeutic strategies

what are glucocorticoids used to do for MD

slow disease progression but there are many adverse effects with long term use like HTN and WT gain

what is the impact of glucocorticoids on MD

improve independent ambulation

improve pulmonary function

delay onset of cardiomyopathy

what are the gene based therapeutic strategies to treat MD

restoring function of dystrophin

what can be seen on an MRI in MD

widespread atrophy with muscles being replaced by fat

what is spinal muscular atrophy

a neuromuscular disease characterized by progressive weakening and wasting of skeletal muscles causing degeneration of the anterior horn cells in the spinal cord

what is type 1 childhood spinal muscular atrophy (SMA)

severe SMA seen in infancy with profound muscle weakness and respiratory difficulties

what is type 2 SMA

presents in early childhood with motor delays but still have ability to sit independently but are unable to walk unassisted

what is type III SMA

mild form appearing in later childhood with mild symptoms and the ability to walk

what gene is defective in SMA

the SMN gene

what does the SMN1 gene mutation in SMA cause

it decreases the intracellular levels of the SMN protein which is involved in precenting neuronal cell death

what part of the nervous system is affected the SMA

the anterior horn cells are progressively degenerating and the selected motor nuclei of the brain stem variability is affected

what are the clinical presentations of SMA (4)

hypotonia

weakness

fatigue

fatal restrictive lung disease

when do symptoms of SMA appear

in infancy usually with the inability to sit unsupported

what other system impairments are seen in SMA (7)

speech deficits

hearing deficits

vision deficits

seizures

sensory impairment

respiratory complications

what other pathologies are at an increased risk due to SMA

Pneumonia and URI due to poor secretion clearance and aspiration

what is seen on a radiograph with SMA

Scoliosis

what are the pharmacological treatments of SMA

orphan drugs such as:

nusinersen

Onasemnogene abeparvovec

Risdiplam

what is Nusinersen

an orphan drug for SMA administered via lumbar puncture to increase SMN (survival motor neuron protein)

what is Risdiplam

an oral drug for SMA that increased the SMN protein in the body

what is onsasemnogene abeparvovec

gene therapy tat replaces abnormal SMN gene with a normal one given by a one time infusion

what is cerebral palsy

a group of permanent disorders affecting movement, posture, and coordination leading to activity limitations in kids

what causes cerebral palsy

nonprogressive disturbances in the developing brain, which occur either during pregnancy, childbirth, or early infancy