Complex Health Challenges:

A Baby’s Life Story

Jessica Potts is a 32 year old woman who is pregnant for the first time. She is working full time

but she and her

partner, Susan,

are just making

ends meet with

the expenses for

IVF.

Jessica is an average height and weight woman as is Susan. When they decided to have a child it was

discovered that Susan has endometriosis and fibroids and can not get pregnant therefore Jessica will be carrying the child.

Treatment of infertility

Usually does not fully prevent conception, especially in mild to moderate cases

Infertility is more common in women with severe forms of disease

Treatments are varied Surgical treatments are superior to hormonal

or medical treatments when goal is enhanced fertility

Assisted reproduction may be used

After being

unsuccessful

with artificial

insemination,

the couple opt

for in vitro

fertilization, Jessica is successful with IVF therapy on the first attempt.

IVF

In vitro fertilization Successfully used in 1978

IVF: Who May Benefit? Women who have a blocked or

damaged fallopian tube Mild problem with male

partner’s sperm No cause identified for inability

to conceive Patient’s who have tried IUI or

ovulation induction with no success

IVFProcedure

Fertility drugs:

-gonadotrophin-releasing hormones (GnRH)

-human-menopausal gonadtrophin (hMG)

-human chorionic gonadotrophin (hCG). Monitor blood hormone levels Ultrasound scan Remove ova through ultrasound-guided

transvaginal retrieval or laparoscopy

IVF Procedure Cont’d Eggs are mixed with sperm in dish and

cultured in incubator Dish checked in 2 days to see if eggs have

been fertilized Those kept are kept for a couple more

days and checked again Fertilized eggs form ball of cells-embryo Healthiest embryo is inserted into uterus Taking progesterone all along to thicken

lining

IVF Procedure Cont’d Progesterone given by injection, pessary (gel) Endometrium too thin IVF cycle abandoned Two embryos transferred

with thin catheter through cervix into

the uterus (via ultrasound) No more then three embryos

can be legally transferred Number of embryos

transferred depends on your

age and chances of success If successful able to

take a pregnancy test in 2

weeks

IVF IVF treatment takes 4-6 weeks to complete Success rates vary Advantages:

gives women with blocked, damaged, or missing fallopian tubes a chance to have a baby

Disadvantages: increased chances for multiple births, increase

risk for miscarriage and other complications, hormones not closely monitored lead to ovarian hyperstimulation syndrome, ectopic pregnancy

MULTIPLE PREGNANCY

Multiply pregnancy occurs when the use of ovulation inducing medication triggers the release of multiple eggs, which, when fertilized produce multiple embryos that are then implanted

Case Study The couple live in a small town

about half an hour from the city. The medical clinic arranges for

Jessica’s prenatal care and any tests and assessments she may need for the duration of her pregnancy and delivery.

Case Study

Jessica and Susan are so happy to finally be pregnant, they refuse most prenatal tests.

They’re just so happy to have a baby in their lives, they are not too concerned about genetics and anomalies with the baby.

They due, however, agree to have an ultrasound.

Non-invasive Prenatal Tests

Doppler Ultrasound

This noninvasive test measures blood flow in different parts of your baby's body — such as the umbilical cord, brain, liver, and heart — to help your caregiver assess your baby's health. It can be done at the same time as an ultrasound and uses the same equipment.

Student presentation for more information…

Mrs. Potts goes into spontaneous labor at 3am at 39 weeks gestation. Her labor and delivery are unremarkable and Jessica and Susan welcome baby Isabelle at 5:56am. The couple become concerned when the nurses start whispering about the baby. Jessica keeps asking them what the problem is, but gets no immediate response. One nurse finally tells Susan and Jessica that the doctor will be in soon to talk to them. Eventually, the doctor delivers the news that their precious little baby girl infact has Down Syndrome. Jessica and Susan react with anger. They are dissappointed that they didn’t go through with the serum screening tests however, they must move forward now.

Case Study

Down Syndrome

Down Syndrome …

Is the most frequently occurring chromosomal disorder

Is universal across race and gender

Is caused by an error in cell division

Occurs at conception Why it occurs is unknown

History John Langdon Down (the father of

down syndrome) 1866: published an accurate description

of a person with down syndrome

Jerome Lejeune Identified down syndrome as a

chromosomal anomaly

Incidence Incidence increases with age

In Canada Down Syndrome occurs in approximately 1 in 800 live births

Increases to 1 in 100 in second birth if your first child had Down Syndrome

In the US more than 350 000 people have Down Syndrome

Incidence of Down Syndrome

Maternal Age

Incidence of Down

Syndrome

20 1 in 2000

25 1 in 1200

30 1 in 900

35 1 in 350

40 1 in 100

45 1 in 30

49 1 in 10

Trisomony 21

Also called Down’s Syndrome

Specific characteristics

Chromosome abnormality

Genetic testing

Down Syndrome The presence of 47 chromosomes

instead of 46

More specifically it is the presence of extra genetic material associated with the 21st chromosome. (Trisomy)

Caused by an error in cell division

Mitosis The process of cell division involved in all

cell growth, differentiation, and repair The chromosomes of each cell duplicate Two daughter cells are produced

They are diploid (contain 46 chromosomes in 23 pairs)

Occurs in all cells except for the oocytes and sperm

Mitosis

Meiosis Occurs in reproductive cells There is a reduction in the number of

chromosomes occurs (end up with 23 chromosomes)

Oocytes and sperm are referred to as being haploid (contain a single copy of each chromosome)

The paired chromosomes come together in preparation for cell division, portions cross over and genetic material is exchanged recombination creates greater diversity in

oocytes and sperm

Meiosis

Nondisjunction Accounts for approximately 95% of down syndrome cases

A pair of chromosomes may fail to separate completely creating a sperm or oocyte that contains either 2 copies or no copies of a particular chromosome.

Trisomy: when there are 2 copies Monosomy: when there are no copies

Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body

Trisomy Down syndrome is a form of

trisomy there is extra genetic material

on the 21st chromosome

Trisomy can occur on any chromosome but the only forms that are frequently seen in live births are on the 13, 18, and 21 chromosome

Mosaicism Mosaicism occurs when nondisjunction of

chromosome 21 takes place in one of the initial cell divisions after fertilization causing a person to have 46 chromosomes in some of their cells and 47 in others

This is the least common form of Down syndrome accounts for only 1 to 2 percent of all cases

Translocation Occurs when part of chromosome 21 breaks off during cell

division and attaches to another chromosome, usually chromosome 14. While the total number of chromosomes in the cells remains 46, the presence of an extra part of chromosome 21 causes the characteristics of Down syndrome

Maternal age is not linked to the chance of having a baby

with translocation. Most cases are sporadic, chance events, but in about one third of translocation cases, one parent is a carrier of a translocated chromosome. For this reason, the chance of translocation in a second pregnancy is higher than that seen in nondisjunction.

Accounts for 3 to 4 percent

Appearance low nasal bridge epicanthal folds (eyes) protruding tongue low set ears poor muscle tone (hypotonia) short stature single crease across palm of

hand slightly flattened facial profile

Characteristics & Conditions

3/4 fetuses are spontaneously aborted

20% die before the age of 10 r/t complications

have and IQ ranging from 25-50 1-3 to1-2 have congenital heart

defects most common are an atrioventricular

septal defect, persistant ductus arteriosus, and tetraology of fallot

decreased ability to fight respiratory infections

increased susceptibility to leukemia usually develop Alzheimer symptoms

by the age of 40 increased risk for thyroid and vision

problems usually accompanied by some level

of mental retardation average life expectancy is 55

Treatment

Down syndrome is not treated The symptoms are treated It is important to encourage individuals with down

syndrome to develop their gifts and talents Early intervention programs can be initiated Many individuals with down syndrome go to school

(elementary, secondary, and post-secondary) and some adults are capable of working in the community.

With proper care individuals with down syndrome can lead healthy lives

Diagnosis Prenatal screening (usually diagnosed here,

but not in Jessica’s case) maternal serum screening ultrasound (sonogram) screening

Diagnostic testing chorionic villus sampling (CVS) amniocentesis percutaneous umbilical blood sampling (PUBS)

Diagnosis is made at the birth of baby Isabelle

Along with the diagnosis of Down’s

The doctor informs Susan and Jessica that he would like to run some tests on baby Isabelle as it appears her head is abnormally large

Jessica and Susan are panicked at this point and the nurse tries to comfort the couples’ anxiety

The doctor refers to a neurologist who examines baby Isabelle

The neurologist is a stoic man in his late 60’s and doesn’t believe in same-sex couples having children

He bluntly tells Susan and Jessica the his diagnosis of baby Isabelle and refers them to community services for follow up

Isabelle has…

What is the Diagnosis?

Hydrocephalus

Structure of the Brain

Ventricles of the Brain

A Lateral View An Anterior View

Ventricles of the Brain Lateral Ventricles

Each cerebral hemisphere contains a large lateral ventricle: Right and Left ventricle or First and Second ventricle

The septum pellucidum separates the two lateral ventricles Third Ventricle

Located in the diencephalons Two lateral ventricles are not directly connected to each other

communicates with the third ventricle through an interventricular foramen (foramen of Monro)

Third and Fourth ventricle are connected through a slender canal known as the mesencephalic aqueduct (the aqueduct of Sylvius) located in the mesencephalon

Fourth Ventricle Superior portion lies between the posterior surface of the pons and the

anterior surface of the cerebellum Extends into the superior portion of the medulla oblongata Then narrows and becomes continuous with the central canal of the

spinal cord

Ependymal Cells

Ependymal Cells Central canal: narrow passageway in the spinal cord In the brain, the passageway forms the ventricles The central canal and ventricles are lined by a cellular

layer of epithelial cells called the ependyma and are filled with cerebrospinal fluid (CSF)

During embroyonic development and early childhood, the free surface of ependymal cells are covered with cilia The cilia persists in adults only within the ventricles of the

brain, where they assist in the circulation of CSF In other areas, the ependymal cells typically have scattered

microvilli Function:

participate in the secretion of the CSF sensory functions, such as monitoring the composition of the

CSF

The Cranial MeningesLayers: Cranial dura mater:

Consists of outer (Endosteal) and inner (Meningeal) fibrous layers Layers are typically separated by a slender gab that contains tissues

fluids and blood vessels, including several large venous sinuses (Dural sinus).

The veins of the brain open into these sinuses, which deliver the venous blood to the internal jugular veins in the neck.

Arachnoid: Consists of the arachnoid membrane, an epithelial layer, and the cells

and fibers of the arachnoid trabeculae that cross the subarachnoid space to the pia mater.

Arachnoid membrane covers the brain, providing a smooth surface that does not follow the brain’s underlying folds.

Pia mater: Sticks to the surface of the brain It extends into every fold, and accompanies the branches of cerebral

blood vessels as they penetrate the surface of the brain to reach internal structures.

Cranial Meninges

The Cranial MeningesFunction:

To protect the brain Dural folds provide additional stabilization

and support to the brain. Dural sinuses are large collecting veins Three layers of dural folds:

Falx cerebri: Superior sagittal sinus and the inferior sagittal sinus

(venous sinuses) lie within this dural fold. Tentorium cerebelli:

Transverse sinus lies within the tentorium cerebelli. Falx cerebelli

Dural Folds

Cerebrospinal FluidFunction: Completely surrounds and bathes the exposed

surfaces of the CNS and has several important functions: Cushioning Delicate Neural Structures Supporting the Brain:

The brain is suspended inside the cranium and floats in the CSF. A human brain weighs about 1400 g in the air, but only about

50 g when supported by the CSF. Transporting Nutrients, Chemical Messengers, and Waste

Products: Ependymal lining is freely permeable (exception: choroids

plexus) CSF is in constant chemical communication with the interstitial

fluid of the CNS

CSF continuedFormation of CSF: Choroid plexus: consists of a combination of specialized

ependymal cells and permeable capillaries for the production of cerebrospinal fluid.

Location: Two extensive folds of the choroid plexus originate in the roof of

the third ventricle and extend through the interventricular foramina. These folds cover the floors of the lateral ventricles.

In the inferior brain stem, a region of the choroid plexus in the roof of the fourth ventricle projects between the cerebrellum and the pons.

Specialized ependymal cells, interconnected by tight junctions, surround the capillaries of the choroid plexus.

The ependymal cells secrete CSF into the ventricles Also remove waist products from the CSF and adjust its

composition over time.

Circulation of Cerebral Spinal Fluid

CSF continuedCirculating CSF Choroid plexus produces CSF at a rate of about 500 ml/day Total volume of CSF at any moments is approximately 150 ml/day

entire volume of CSF is replaced every eight hours CSF circulates from the choroid plexus through the ventricles and the central

canal of the spinal cord As the CSF circulates, diffusion between it and the interstitial fluids (the

extracellular fluids in most tissues is called interstitial fluid) of the CNS is unrestricted between and across the ependymal cells.

The CSF reaches the subarachnoid space through the two lateral apertures and the single median aperture, opening in the roof of the fourth ventricle.

CSF then flows through the subarachnoid space surrounding the brain, spinal cord, and cauda equine.

Fingerlike extensions of the arachnoid membrane, called arachnoid villi, penetrate the meningeal layer of the dura mater and extend into the superior sagittal sinus.

In adults, clusters of villi form large arachnoid granulations. CSF is absorbed into the venous circulation at the arachnoid granulations

where it is filtered and discarded by the body.

The Blood Brain Barrier Neural tissue in the CNS is isolated from the general circulation by the

blood-brain barrier This barrier exists because the endothelial cells that line the capillaries

of the CNS are extensively interconnected by tight junctions These junctions prevent the diffusion of materials between adjacent

endothelial cells Only lipid-soluble compounds can diffuse across the endothelial cells

membranes into the interstitial fluid of the brain and spinal cord Astrocyte Cells: Restricted permeability characteristics of the endothelial lining of brain

capillaries are depended on chemicals secreted by the astrocytes cells that are in close contact with CNS capillaries

Outer surfaces of the endothelia cells are covered by the processes of astrocytes

Release chemicals that control the permeability of the endothelium to various substances

If damaged or stop stimulating the endothelial cells, the blood-brain barrier disappears.

Astrocyte Cells

Blood-CSF Barrier Choroids plexus:

Not part of the neural tissue of the brain therefore no astrocytes are in contact with the endothelial cells.

As a result, capillaries in the choroids plexus are highly permeable

Blood-CSF barrier: Substances do not have free access to the CNS Specialized ependymal cells interconnected by tight junctions,

surround the capillaries of the choroids plexus Transport across the blood-brain and blood-CSF barriers is

selective and directional Even the passage of small ions (sodium, hydrogen, potassium,

or chloride) is controlled Some organic compounds are readily transported, and

others cross only in minute amounts.

Susan and Jessica and angry and bitter They want to know why this diagnosis of

Hydrocephalus wasn’t caught sooner? Why were they missed?

An ultrasound will normally show that the fetus’ fontanelle is bulging, and that the head circumference is larger than normal for the gestational age

What is Hydrocephalus? The term hydrocephalus is derived from two words:

"hydro" meaning water "cephalus" referring to the head

A condition in which excess CSF builds up within the ventricles of the brain or in the subarachnoid space and may increase pressure within the head

Can occur at any age most common in infants and adults age 60 and older

In most instances, hydrocephalus is a lifelong condition in that the patient is treated rather than "cured"

If left untreated in the infant, they can suffer from some degree of mental retardation and/or motor dysfunction.

Epidemiology In the United States, a little over 1 in 1000 births are affected by

hydrocephalus. As high as 1 in 500 births.

Hydrocephalus is one of the most common "birth defects" and afflicts in excess of 10,000 babies each year.

Studies by the World Health Organization show that one birth in every 2,000 result in hydrocephalus.

There are 70,000 discharges a year from hospitals in the United States with a diagnosis of hydrocephalus.

More than 50% of hydrocephalus cases are congenital. As many as 75% of children with hydrocephalus will have some

form of motor disability. Over the past 25 years, death rates associated with hydrocephalus

have decreased from 54% to 5%; intellectual disabilitity has decreased from 62% to 30%.

Ocular gaze and movement disorders are found in approximately 25 to 33% of children with hydrocephalus.

About 80% of hydrocephalus patients are born with other defects.

Types of Hydrocephalus

Congenital: when the condition exists at birth

Acquired: when it occurs as the result of a trauma to the brain after birth.

Pathophysiology

Impaired absorption of CSF from the subarachnoid space occurs when an obstructive process disrupts the flow of CSF through the subarachnoid space.

The fluid does not reach the convex portion of the cerebrum, where the arachnoid granulations are located.

With acute hydrocephalus, there is increased ICP that has a rapid onset. The patient can deteriorate rapidly into a deep coma if it is not treated promptly.

ICP rises if production of CSF exceeds absorption. This occurs if CSF is overproduced, resistance to CSF flow is increased, or venous sinus pressure is increased.

CSF production falls as ICP rises. Compensation may occur through transventricular absorption of CSF and also by absorption along nerve root sleeves.

Temporal and frontal horns dilate first, often asymmetrically.

This may result in elevation of the corpus callosum, stretching or perforation of the septum pellucidum, thinning of the cerebral mantle, or enlargement of the third ventricle downward into the pituitary fossa (which may cause pituitary dysfunction).

Causes of Hydrocephalus

This is grouped into 3 main causes:

1.  Excessive secretion of CSF by the choroid plexus as in cases of choroid plexus papilloma (rare, bening tumour) or carcinoma. This is a rare cause.

Choroid Plexus Papilloma

2.  Blockage to CSF circulation. This could be at any level of the CSF circulation. •It could be at the level of the foramen of Monro where we there is unilateral or bilateral coverage of the foramen of Monro giving dilatation of one or both lateral ventricles. •This is commonly seen in the colloid cyst and tumours of the third ventricle. • Suprasellar lesion as suprasellar arachnoid cyst or hypothalamic tumours (craniopharyngioma; congenital pituitary tumour).• Posterior fossa tumours are a common cause of obstructive hydrocephalus due to blockage of the 4th ventricle. • Medulloblastoma, cystic astrocytoma and ependymoma can all lead to obstructive hydrocephalus.

3. Poor secretion of CSF into the venous sinuses caused by scarring of the arachnoid villi and is commonly seen after meningitis or hemorrhage.  

Forms of Hydrocephalus Description

Communicating Hydrocephalus

(non-obstructive hydrocephalus) caused by inadequate absorption of CSF when the ventricular pathways are not obstructed.

Noncommunicating Hydrocephalus

(obstructive hydrocephalus) caused by blockage in the ventricular pathways through which CSF flows.

Obstructive hydrocephalus

Results from obstruction of the flow of CSF (intraventricular or extraventricular). Most hydrocephalus is obstructive, and the term is used to contrast the hydrocephalus caused by overproduction of CSF.

Arrested hydrocephalus

Stabilization of known ventricular enlargement, probably secondary to compensatory mechanisms. These patients may decompensate, especially following minor head injuries.

Forms of Hydrocephalus

Causes of Hydrocephalus

Congenital Causes in Infants and Children

Characterized by an increased volume of CSF

May be caused by: A blockage within the ventricular system in which the CSF flowsAn imbalance in production of the CSFReduced reabsorption of the CSF that results in enlargement of the ventricles, and increased ICP

This pressure within the ventricular system pushes and compresses the brain against the skull cavity.

Before the cranial sutures fuse, the skull can increase to accommodate the additional space-occupying volume to preserve neuronal function.

Stenosis of the Aqueduct of Sylvius

Due to malformation: This is responsible for 10% of all cases of hydrocephalus in newborns, and is the most common cause.

Bickers-Adam Malformation

This is an X-linked hydrocephalus. It is characterized by stenosis of the aqueduct of Sylvius, severe mental retardation, and in 50% by an adduction-flexion deformity of the thumb.

Dandy-Walker Malformation

• This affects 2-4% of newborns with hydrocephalus.

•Dandy-Walker Malformation is a rare malformation of the brain that is present at birth (congenital).

•Dandy-Walker Malformation is a form of "Obstructive" or "Internal Noncommunicating Hydrocephalus," meaning that the normal flow of cerebrospinal fluid is blocked resulting in the widening of the ventricles.

•It is characterized by an abnormally enlarged space at the back of the brain (cystic 4th ventricle) that interferes with the normal flow of cerebrospinal fluid through the openings between the ventricle and other parts of the brain (foramina of Magendia and Luschka).

•Excessive amounts of fluid accumulate around the brain and cause abnormally high pressure within the skull, swelling of the head (congenital hydrocephalus), and neurological impairment. Motor delays and learning problems may also occur.

Arnold-Chiari Malformation

• Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance.

• The cerebellum and brainstem can be pushed downward.

• The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination.

• Is accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back.

•This can cause partial or complete paralysis below the spinal opening, and hydrocephalus.

Agenesis of the Foramen of Monro

• Narrowing of the foramen of Monroe.

• Since the foramen narrows, this leads to increased pressure to push the CSF through the

foramen of Monroe.

• AKA Interventricular foramen.

Congenital Toxoplasmosis• Group of symptoms and characteristics caused by infection of the fetus with the organism Toxoplasma gondii.

• Fetal infection results when a nonimmune pregnant woman is initially infected with toxoplasmosis (from certain foods, cat feces, or if she has a history of toxoplasmosis during previous pregnancies).

• Congenital toxoplasmosis is characterized by damage to the eyes, nervous system, skin, and ears.

• Can occur as a result of ingestion of raw or inadequately cooked infected meat, ingestion of oocysts, an environmentally resistant form of the organism that cats pass in their feces, with exposure of humans occurring through exposure to cat litter or soil (e.g., from gardening or unwashed fruits or vegetables), and a newly infected pregnant woman passing the infection to her unborn fetus.

Arnold-Chiari Malformation

Dandy-Walker

Malformation

MRI’s: Congenital Causes of Hydrocephalus

Acquired Causes in Infants and Children

Mass lesions account for 20% of all cases of hydrocephalus in children. These are usually tumors (eg, medulloblastoma, astrocytoma), but cysts, abscesses, or hematoma also can be the cause.Intraventricular hemorrhage can be related to prematurity, head injury, or rupture of a vascular malformation.Infections: Meningitis (especially bacterial) and, in some geographic areas, cysticercosis can cause hydrocephalus.•Increased venous sinus pressure: This can be related to achondroplasia, some craniostenoses, or venous thrombosis.Iatrogenic (result of medical interventions): Hypervitaminosis A, by increasing secretion of CSF or by increasing permeability of the blood-brain barrier, can lead to hydrocephalus.Idiopathic

Signs and Symptoms of Hydrocephalus

Clinical features of hydrocephalus are influenced by the following:

Patient's age

Cause

Location of obstruction

Duration

Rapidity of onset

Poor feeding Irritability Reduced activity Vomiting Seizures Bulging fontanelleThin, shiny skin over fontanellesPapilledema (swelling of the eye’s nerves) and later optic atrophy

Symptoms in Infants

Symptoms in Children

Slowing of mental capacity

Headaches (initially in the morning) that are more significant than in infants because of skull rigidity

Neck pain suggesting tonsillar herniation Vomiting, more significant in the morning

Blurred vision - Consequence of papilledema (swelling of the eye’s nerves) and later of optic atrophy Double vision - Related to unilateral or bilateral sixth nerve palsy (affects abducens cranial nerve, and eyes cannot turn outward beyond midline, double vision also occurs, but disappears when one eye is closed)

Stunted growth and sexual maturation from third ventricle dilatation: This can lead to obesity and to precocious or delayed onset of puberty.

Difficulty in walking secondary to spasticity: This affects the lower limbs preferentially because the periventricular pyramidal tract is stretched by the hydrocephalus.

Drowsiness

Physical Assessment of A Neonate

*Similar to adult head-to-toe

assessment, with the following exceptions:*

• Vital signs

• Skin and hair – Lanugo, vernix caseosa (thick, cheezy protective integumentary deposit that consists of sebum, and shed epithelial cells). Stork bites (back of neck, lower occiput, upper eyelids, and upper lip).

• Head, Face and Eyes – Infants have anterior or posterior fontanelles, and they should not bulge or sink.

• Newborns don’t produce tears until 2-3 months.

• The Eustachian tube is more horizontal, wider, and shorter, thus can increase likelihood of middle ear infections.

• Thorax and Lungs: up to 3-4 months abdominal breathing. Measure chest circumference.

• Cardiovascular: Infants have a higher circulating blood volume

• Abdomen: Liver is proportionately larger.

• Musculoskeletal: Bone growth ends at 20 (when epiphysis closes).

• Neurological: Apgar Scores – Method to reassess need for newborn resuscitation in the delivery room.

• Given at 1 and 5 minutes following birth. Score of 8-10 Newborn in good condition, 4-7 Moderately depressed newborn, 0-3 indicates severe depression, and needs immediate resuscitation (See overhead)

• Reflexes : Rooting, sucking, palmar grasp, tonic neck, stepping, plantar grasp, Babinski’s, and Moro.

• Genitourinary System: During infancy, the bladder is located in between the symphysis pubis and the umbilicus. Monitor I & O.

• Gastrointestinal: Meconium stools, then after 3 days, yellow coloured. Important to monitor bowel function and I & O to ensure that infant does not become dehydrated.

• Inspection of genitalia

Clinical Manifestations Upon Physical Assessment

Infants

Head enlargement: Head circumference is in the 98th percentile for the age or greater.

Dysjunction of sutures: This can be seen or palpated.

Dilated scalp veins: The scalp is thin and shiny with easily visible veins.

Tense fontanelle: The anterior fontanelle in infants who are held erect and are not crying may be excessively tense.

Setting-sun sign: In infants it is characteristic of increased ICP. Both ocular globes are deviated downward, the upper lids are retracted, and the white sclerae may be visible above the iris.

Increased limb tone: Spasticity affects the lower limbs. The cause is stretching of the periventricular pyramidal tract fibers by hydrocephalus.

Children

Papilledema: if the raised ICP is not treated, this can lead to optic atrophy and vision loss.

Failure of upward gaze: This is due to pressure on the tectal plate through the suprapineal recess.

Macewen sign: A "cracked pot" sound is noted on percussion of the head.

Unsteady gait: This is related to spasticity in the lower extremities.

Large head: Sutures are closed, but chronic increased ICP will lead to progressive abnormal head growth.

Unilateral or bilateral sixth nerve palsy (affects abducens cranial nerve, and eyes cannot turn outward beyond midline, double vision also occurs, but disappears when one eye is closed) is secondary to increased ICP.

Getting the Diagnosis With newborns, hydrocephalus is detected

almost immediately as the child's head may be larger than normal (macrocephaly). However, with older children or adults, hydrocephalus usually starts to reveal itself with a variety of signs and symptoms weeks or months before it is detected.

It may be detected by signs and symptoms of increased cranial pressure.

CT and MRI X-Rays do not provide enough contrast to see the tissues of

the brain. CT Clearer pictures of the bodies organs, tissues and

bones. Approx. 2-5 minutes. MRI Internal structures can be seen. Approx. an hour in

length. Provide a clearer view of gray and white matter of the

brain, as well as the vascular system. Primary use for neurosurgeons.

CT and MRI scans take pictures of the complete cranial and intracranial anatomy, including the subarachnoid spaces and the structures of the posterior fossa.

Taken laterally and sagitally (front-back)

Diagnosis of Hydrocephalus

Abnormal Head Growth (Macrocephaly) Infants and small children primary indicator. Kids sutures have

not fused together yet. Continue to monitor the growth of the child’s head until the

child reaches the age of 6 or 7. Signs and Symptoms:

Irritable High pitched cry/scream Split sutures of the skull Distended veins in the scalp-bulging or widening of the

fontanels Absence of up ward's gaze, known as “sun setting”

usually in acute non-communicating hydrocephalus. Impaired lateral gaze (Sun setting one or both eyes) Loss of vision-weakness or spasticity of limbs.

Initial Diagnosis Initially, when one or more symptoms

become evident. Infant Child’s head is bulging or larger

than normal Child Painful headaches, gait disorder or

vision problems Should be referred to a neurosurgeon Neurological Examination History of

milestones, as well as a physical examination for neurological deficits.

Full-Term Infant 1 year or older Examine the infant to see if they are reaching

mental and physical developmental milestones. Mental Milestones:

Is your infant communicating verbally? Is your infant performing well in school? Has your infant fallen behind his peers in recent months? Is your child having a hard time remembering things? Have you noticed any changes in personality in the last few

weeks/months?

Continued… Physical Milestones:

Has your child started to show signs of walking by the time they were 1?

Is your infants gait steady or unbalanced? Does your child drift to the side while they walk? Get the child to balance on one foot, with their eyes closed.

Place both feet together side by side to maintain balance. Place the index finger in front of the face and ask to follow

movement. (testing for paralysis of the abducens- 6th cranial nerve). Controls side to side (lateral) movement.

Walk heal-to-heal. If child has difficulty could be an indicator of pressure on the cerebellum.

Check plantar, Babinski reflex. If the big toe moves upward, results an extensor response or

Babinski reflex. Babinski reflex is a clear indication of some form of brain or spinal cord disease. Usually skip this till the infant is at least 1 year old because it is usually positive whether the infant has it or not.

Pronator drift: Close eyes while standing, extend both arms in front with palms up. See if one arm wavers or drifts. Indication of injury to the motor areas of the brain.

Effects on Family Dynamics Emotions can range from worry to fear, as

well as resentment and jealousy. Children also have active imaginations. Usually their emotions are worse than

their reality perceives. Talk through their fears. Siblings may feel completely

overwhelmed. Resentment and jealousy are common

feelings experienced by siblings. Let them know they are loved and valued.

Preventing Childhood Hydrocephalus

Protecting the head of the infant or child from injury by handling the child carefully may help prevent the development of injury induced hydrocephalus.

Prompt treatment of infections such as meningitis and others associated with hydrocephalus may reduce the risk of developing the disease.

Women who take cytomegalovirus or toxoplasmosis acquired by a mother during pregnancy may cause hydrocephalus. May reduce the risk of being infected by toxoplasmosis by: Cooking meet and veggies carefully. Cleaning contaminated knives and cutting services properly. Avoid handling cat litter, or wearing gloves when cleaning the litter box.

Lymphocytic choriomengitis virus (LCV) which pet rodants (mice) often carry can lead to hydrocephalus in pregnancy.

Infection with chickenpox or mumps during or right after pregnancy may also lead to hydrocephalus in the baby.

Role of Nurses Bedside nurse is in a unique position to have an impact on

patients’ and families’ lives. Nurse needs to empower and educate the family of the

importance of aseptic technique when taking care of the child’s surgical site.

Stress the importance to the family that their child should maintain optimal health with proper nutrition and exercise.

Needs to supply the families with life-saving information of the signs and symptoms of a shunt malfunction and or infection.

Multidisciplinary Workers Nutritional Support Physical Therapy Occupational Therapy Neurosurgeon Pediatrician Nurses Ophthalmologist

Isabelle’s scalp, over the anterior fontanelle, is shiny and thin and the tiny veins are prominent. Isabelle is then sent to the NICU to be closely monitored for complications associated with increased intracranial pressure. Exactly 2 weeks after Isabelle was born, she undergoes surgery to insert a VP shunt. The surgery went very well with no complications.

Ventriculo-Peritoneal Shunts In Infants

Hydrocephalus Shunt Statistics

There are 25,000 shunt operations performed each year in the United States. Of those, some 18,000 are initial shunt placements.

Some 85% of people with shunts have had at least two shunt operations.

Studies show that the risk of shunt failure in an infant's first year is 30%.

Shunts are revised about 2 times in the first ten years of use per patient.

95% of shunt infections occur within 3 to 5 days of surgery. The reported frequency of shunt infection varies from 1.5 to 39%

with an average of 10 to 15%. More than 50% of staphylococcal infections occur with in 2 weeks

of the operation, and 70% of infections occur within 2 months. The overall complication rate of CSF shunts remains quite high: 25

to 60%. Shunt malfunctions occur in about two to 40% of cases.

What is a Ventriculo-Peritoneal Shunt?

Primary Goal of a VP shunt: To ensure on a regular basis that the shunt continues to function!

A VP is a long, plastic tube that allows fluid to drain from the brain to another part of the body (Peritoneal Cavity). This drainage prevents increased pressure on the brain.

VP Shunt has at least three parts: 1) Ventricular Catheter: Goes in the brain 2) Valve: It controls the pressure within the brain. 3) Distal Catheter: Is underneath the skin and connects the

other parts of the VP shunt to a space within the body, usually the abdominal cavity (peritoneal cavity). This may also be placed behind the infant’s ear.

The fluid flows through this tube from the brain into the abdominal cavity. In this area, the body absorbs the fluid. It does not go into the stomach.

Advantages of a VP Shunt Advantages of Peritoneal Shunting.

1. If an infection develops, it is not as potentially life threatening, as with shunts in the venous system.

2. A large amount of tubing can be place intra-peritoneal to minimize the need for elective lengthening.

3. The overall ease in placing peritoneal shunts in a relatively short operation.

Problems that may Arise with VP Shunts

Risks that may Arise:1. Abdomen= Bowel twisting and excess fluid overload.2. Blockage of the Shunt3. Brain Injury= Clots, Loss of Sensation, Memory Loss,

Paralysis, Seizures, Speech Problems, Headaches caused by overdraining, and Mechanical Failure

4. Bleeding, Problems with anesthesia5. Body may react negative because of foreign material6. Approximately 10% of shunts fail within 10 years of

placement.7. May require as many as 5 surgeries

How Shunts Work Before shunt placement a CT image of the brain will show a

build up of CSF in the ventricles. Figure 1. Dark area in the middle is the build up of CSF.

How Shunts Work Shunt implantation Goal is for the shunt system to mimic what

would occur in the body naturally. CSF will be chained by the shunt, and the flow will be regulated so that a constant ICP is maintained.

After shunt placement Post-op CT scan image Ventricles have been drained and have resumed normal size.

White spot in the middle is the

shunt.

CSF enters the shunt system through small holes or slits near the tip of the proximal catheter.

As CSF is produced by the choroid plexus, the shunt valve will regulate the amount of ICP by draining fluid from the ventricles.

From the proximal catheter CSF flows through the valve system and into the distal catheter, drains the CSF into another area where it is reabsorbed either directly or indirectly by the bloodstream. Ex. Peritoneal cavity with a VP shunt.

No harm because CSF is normal. Reabsorbed by the superior sagittal sinus, a large venous structure that carries the blood flow away from the brain.

VP Shunt Insertion

Reservoir

Valve

Stastic Tubing

Ventricular Catheter

Ventriculoarterial Shunt

Ventriculoperitoneal Shunt

Valve Pressure Ratings Valve Pressure Settings:

Most shunt valves are known as differential pressure valves. A valve is self-regulating . They are capable of gauging the amount

of ICP and can adjust to different pressures between the ventricles and the distal cavity that the shunt drains into.

Most common pressure ratings for differential pressure valves are: Extra-low pressure: 0-10mmH2O Low 10-50mmH2O Medium 51-100mmH2O High 101-200mmH2O Amount of fluid that is allowed to flow through the shunt valve

depends on the specific design characteristics of the valve, as well as the level rating by the manufacturer.

Normal ICP range from 50mmH2O-200mmH2O. Infants normal ICP usually less than 60 and less than 40 for

premature infants.

VP Shunt Vs. VA Shunt

Ventriculo-Atrial Shunt (VA)

Shunt tubing is passed from the valve to the neck where it is inserted into a vein. It is then passed through the vein until the tip of the catheter (shunt) is in the atrium (a chamber) of the heart.

In the heart, the CSF passes into the blood stream and is filtered along with other body fluids.

Vascular shunts functioned very well, but they were prone to multiple problems including early and late infection, as well as rare, potentially fatal heart failure due to blockage of blood vessels within the lungs by particles of blood clot flaking off the shunt's catheter tip.

The use of the heart has been largely abandoned as an initial choice because of these problems, but it remains a viable second option when infection or surgery has rendered the abdominal cavity unaccommodating of the distal shunt catheter.

Ventriculopleural Shunt

The chest cavity is another cavity which can be used as a backup to the abdominal cavity (ventriculopleural shunt).

Occasionally, this cavity cannot resorb the CSF rapidly and the lung becomes compressed by the excess CSF resulting in difficulty in breathing. The catheter must be moved to a different cavity is such cases.

Non-Surgical Treatments Pharmacological Acetazolamide (Diamox) and Furosemide

(Lasix) Diuretics. Given to control ICP and fluid retention. Temporary relief of increased ICP, but are usually not helpful.

Used to decrease the production of CSF by the choroid plexus and serial lumbar punctures of the spine to drain CSF.

Serial lumbar punctures are predominantly used on premature baby’s who had an intraventricular hemorrhage.

Drain excess CSF within the ventricles of an intraventricular hemorrhage will block CSF flow within the ventricles or in the basal cistein, causing non-communicating hydrocephalus making serial lumbar puncture ineffective.

Non-operational procedures provide moderate success until the client is shunted.

Patient and Family Education

Parents, older children, friends and roommates must be taught the signs and symptoms of shunt failure.

Persistent headache, emesis, lethargy, change in the neurological exam, visual changes such as diplopia or loss of conjugate gaze, or swelling or redness along the shunt valve or tubing are signs that your child needs medical attention.

Children are counseled to avoid contact sports that may cause injury to the shunt valve or head trauma.

Discourage patients from wearing purses , shoulder bags, or backpacks on the side where the shunt tubing passes down the neck. Continuous pressure on the tubing can cause a break or kink in the tubing.

Constipation may be a factor in the development of a shunt malfunction due to increased abdominal pressure, d/t decreased CSF drainage.

Medical Alert Bracelet.

Despite the many complications with Susan, Jessica, and baby Isabelle, the family does well

Isabelle continues to grow and learn Jessica and Susan become even closer in their

marriage and say that Isabelle has brought them so much joy and happiness and she has taught them the importance of life

Every day they feel blessed to have her in their lives

Any Questions??

The End