Neural Tube DefectsNeural Tube Defects

Catherine R.Thompson, PT, PhD, MSCatherine R.Thompson, PT, PhD, MS

DirectionsDirections

This PowerPoint presentation should be This PowerPoint presentation should be used in conjunction with the following used in conjunction with the following resources:resources:

• The “Neural Tube Defects” handout The “Neural Tube Defects” handout

• Case Study - Spina Bifida handoutCase Study - Spina Bifida handout

• Chapter 5 in Chapter 5 in Pediatric Physical TherapyPediatric Physical Therapy (Tecklin, 1999)(Tecklin, 1999)

IntroductionIntroduction

This presentation offers some illustrations of This presentation offers some illustrations of key concepts listed on the handouts and key concepts listed on the handouts and described in the text. Follow this described in the text. Follow this presentation as you use the additional presentation as you use the additional resources to gain an appreciation of your resources to gain an appreciation of your role as a PT working with children and role as a PT working with children and adults with these types of impairments.adults with these types of impairments.

When do neural tube defects occur?When do neural tube defects occur?

Neural Tube Neural Tube DevelopmentDevelopment

Normal embryological Normal embryological development development Neural plate Neural plate

development -18th daydevelopment -18th dayCranial closure 24th Cranial closure 24th

day (upper spine)day (upper spine)Caudal closure 26th Caudal closure 26th

day (lower spine)day (lower spine)

What is Spina Bifida?What is Spina Bifida?

A midline defect of the A midline defect of the bone, bone, skin, skin, spinal column, &/orspinal column, &/orspinal cord.spinal cord.

Clinical ConsiderationsClinical Considerations

Does the Does the mother mother generally generally know she is know she is pregnant pregnant when the when the neural tube neural tube is is developing?developing?

(See Tecklin, (See Tecklin, page 166.)page 166.)

Note this chart illustrates WEEKS of gestation (pregnancy).Note this chart illustrates WEEKS of gestation (pregnancy).

Clinical considerations:Clinical considerations:At what point could health professionals prevent At what point could health professionals prevent

the development of neural tube defects? the development of neural tube defects?

(See Tecklin, page166.)(See Tecklin, page166.)

Consider the role of the PT in health promotion Consider the role of the PT in health promotion and prevention through education. and prevention through education.

Preventive CarePreventive Care

• TThe United States Public Health Service he United States Public Health Service recommends that: "recommends that: "All women of All women of childbearing age in the United States childbearing age in the United States who are capable of becoming pregnantwho are capable of becoming pregnant should consume 0.4 mg of folic acid per day should consume 0.4 mg of folic acid per day for the purpose of reducing their risk of having for the purpose of reducing their risk of having a pregnancy affected with spina bifida or other a pregnancy affected with spina bifida or other neural tube defects." Folic acid is a "B" vitamin neural tube defects." Folic acid is a "B" vitamin that can be found in such foods as: cereals, that can be found in such foods as: cereals, broccoli, spinach, corn and others, and also as broccoli, spinach, corn and others, and also as a vitamin supplement.a vitamin supplement.

Clinical ConsiderationsClinical Considerations

What factors contribute to neural tube defects?What factors contribute to neural tube defects?

((See Tecklin, pages 163-164See Tecklin, pages 163-164))

Types of Myelodysplasia*Types of Myelodysplasia*

• Spina bifida occultaSpina bifida occulta

• LipomeningoceleLipomeningocele

• MeningoceleMeningocele

• Myelomeningocele = Spina BifidaMyelomeningocele = Spina Bifida

**defective development of the spinal corddefective development of the spinal cord

Neurologic pathologyNeurologic pathology

Spina bifida Spina bifida occulta occulta

((occultaocculta = closed) = closed)

A condition A condition involving involving nonfusion of the nonfusion of the halves of the halves of the vertebral arches vertebral arches without without disturbance of disturbance of the underlying the underlying neural tissueneural tissue

Neurologic pathologyNeurologic pathology

LipomeningoceleLipomeningocele

((lipo lipo = fat)= fat)

lipoma or fatty lipoma or fatty tumor located tumor located over the over the lumbosacral lumbosacral spine. Associated spine. Associated with bowel & with bowel & bladder bladder dysfunctiondysfunction

LipomeningoceleLipomeningocele

Neurologic pathologyNeurologic pathology

Meningocele (Meningocele (celecele = sac) = sac)

Fluid-filled sac with meninges involved but neural Fluid-filled sac with meninges involved but neural tissue unaffectedtissue unaffected

Types of MyelodysplasiaTypes of Myelodysplasia

MyelomeningoceleMyelomeningocele

or or spina bifidaspina bifida: : meninges and spinal meninges and spinal tissue protruding tissue protruding through a dorsal through a dorsal defect in the defect in the vertebraevertebrae

The spinal defect with The spinal defect with myelomeningocelemyelomeningocele

Incidence and PrevalenceIncidence and Prevalence

• Incidence Incidence – 1/10001/1000

• Prevalence Prevalence – Increased incidence in families of Celtic and Increased incidence in families of Celtic and

Irish heritage (genetic or environmental?)Irish heritage (genetic or environmental?)– Increased incidence in minorities (genetic or Increased incidence in minorities (genetic or

environmental?)environmental?)– Increased incidence in familiesIncreased incidence in families

EtiologyEtiology

Neural Tube defects may result from:Neural Tube defects may result from:• Combination of environmental and Combination of environmental and

genetic causesgenetic causes• Teratogens – Teratogens – Remember what these Remember what these

are?are?• Nutritional deficiencies - notably, folic Nutritional deficiencies - notably, folic

acid deficiencyacid deficiency

Diagnosis and DetectionDiagnosis and Detection

AmniocentesisAmniocentesisAFP - indication of abnormal leakageAFP - indication of abnormal leakage

Blood testBlood testMaternal blood samples of AFPMaternal blood samples of AFP

UltrasonographyUltrasonographyFor locating back lesion vs. cranial signsFor locating back lesion vs. cranial signs(See Tecklin, pages 167-168.)(See Tecklin, pages 167-168.)

PrognosisPrognosis

Spina bifida is a:Spina bifida is a:static static non-progressive defect non-progressive defect with with worseningworsening from secondary problems. from secondary problems.The prognosis for a normal life span is generally The prognosis for a normal life span is generally

good for a child with good health habits and a good for a child with good health habits and a supportive family/caregiver.supportive family/caregiver.

Impairments associated with Spina Impairments associated with Spina BifidaBifida

Physiological changes below the level of the Physiological changes below the level of the lesion generally include:lesion generally include:

abnormal nerve conduction, resulting in:abnormal nerve conduction, resulting in:somatosensory lossessomatosensory lossesmotor paralysis, including loss of bowel and motor paralysis, including loss of bowel and

bladder controlbladder control

Impairments associated with Spina Impairments associated with Spina BifidaBifida

Physiological changes below the level of the lesion Physiological changes below the level of the lesion generally include:generally include:

abnormal nerve conduction, resulting in:abnormal nerve conduction, resulting in:

changes in muscle tone* changes in muscle tone*

*Note: Muscle tone can range from flaccid to normal *Note: Muscle tone can range from flaccid to normal to spastic; may have UMN signs with/without true to spastic; may have UMN signs with/without true spastic paraparesis; progression of neurologic spastic paraparesis; progression of neurologic dysfunction or change in neurologic status most dysfunction or change in neurologic status most concerningconcerning

Impairments associated with Impairments associated with Spina BifidaSpina Bifida

Anatomical changes below the level of Anatomical changes below the level of lesion: lesion:

musculoskeletal deformities (scoliosis)musculoskeletal deformities (scoliosis) joint and extremity deformities (joint contractures, joint and extremity deformities (joint contractures,

club foot, hip subluxations, diminished growth of club foot, hip subluxations, diminished growth of non-weight bearing limbs)non-weight bearing limbs)

osteoporosis osteoporosis abnormal or damaged nerve tissueabnormal or damaged nerve tissue

Impairments associated with Impairments associated with Spina BifidaSpina Bifida

Anatomical changes associated with a cervical lesion:

An enlarged head caused by hydrocephalus

(“water on the brain” Hydrocephalus

Arnold Chiari MalformationArnold Chiari Malformation

Arnold Chiari type II Arnold Chiari type II Malformation: Malformation:

cerebellar hypoplasia cerebellar hypoplasia ((hypoplasiahypoplasia = reduced = reduced growth)growth)

with caudal displacement with caudal displacement of the hindbrain through of the hindbrain through the foramen magnum the foramen magnum

usually associated with usually associated with hydrocephalushydrocephalus

Health Problems associated with the Health Problems associated with the Arnold Chiari syndromeArnold Chiari syndrome

Cranial Nerve PalsiesCranial Nerve PalsiesVisual DeficitsVisual DeficitsPressure from the enlarged ventricles Pressure from the enlarged ventricles

affecting adjacent brain structures affecting adjacent brain structures

(See Tecklin, page 166, for symptoms (See Tecklin, page 166, for symptoms associated with Arnold Chiari syndrome.)associated with Arnold Chiari syndrome.)

Health Problems associated with the Health Problems associated with the Arnold Chiari syndromeArnold Chiari syndrome

Cognitive and perceptual problems:Cognitive and perceptual problems:Potential for lower intellectPotential for lower intellectMemory deficits Memory deficits DistractibilityDistractibility““Cocktail party personality” (chattering Cocktail party personality” (chattering

speech - with limited content)speech - with limited content)Visual perceptual deficitsVisual perceptual deficits

Health Problems associated with Health Problems associated with Arnold Chiari syndromeArnold Chiari syndrome

Motor dysfunction:Motor dysfunction:Upper limb incoordination: halting and Upper limb incoordination: halting and

deliberate movement instead of smooth deliberate movement instead of smooth continuous movementcontinuous movement

Spasticity: related to upper motor neuron Spasticity: related to upper motor neuron lesions lesions

Complications leading to progressive Complications leading to progressive neurological dysfunctionneurological dysfunction

• Syringobulbia (syringes occurring in Syringobulbia (syringes occurring in the brainstem)the brainstem)

• Syringomyelia (syringes anywhere in Syringomyelia (syringes anywhere in the spinal cord)the spinal cord)

• Bowel and/or Bladder Dysfunction: Bowel and/or Bladder Dysfunction: potential for neurogenic bowel and/or potential for neurogenic bowel and/or bladder (requires clean, intermittent bladder (requires clean, intermittent catheterization on a regularly timed catheterization on a regularly timed schedule)schedule)

• (Refer to Tecklin, pages 209-212.)(Refer to Tecklin, pages 209-212.)Tubular cavitation called a syrinx

Other ComplicationsOther Complications

Hydrocephalus Hydrocephalus HydromyeliaHydromyeliaTethering of the spinal cord: Tethering of the spinal cord: fixation or fixation or

tethering of the distal end of the spinal cord tethering of the distal end of the spinal cord causing intermittent bowstringing of the spinal causing intermittent bowstringing of the spinal cord between the normal cephalic attachment and cord between the normal cephalic attachment and the point of tetherthe point of tether

SeizuresSeizures

Related ProblemsRelated Problems

Skin BreakdownSkin BreakdownDecubitus ulcers and other types of Decubitus ulcers and other types of

skin breakdownskin breakdownObesityObesityLatex AllergyLatex Allergy

Medical ManagementMedical Management

• Surgical closure of Surgical closure of back lesion 24-48 hrs back lesion 24-48 hrs after birth with shunt after birth with shunt insertion within 6 insertion within 6 monthsmonths

Medical ManagementMedical Management

• Neurosurgical goalsNeurosurgical goals• Orthopedic goalsOrthopedic goals• Urologic goalsUrologic goalsWith the potential of numerous complications in With the potential of numerous complications in

sight, medical management has a variety of sight, medical management has a variety of important goals. important goals.

(See Tecklin page 180 for tables listing goals.)(See Tecklin page 180 for tables listing goals.)

Physical Therapy Physical Therapy ManagementManagement

Pre-closure:Pre-closure:

– MMT, ROM assessment, therapeutic MMT, ROM assessment, therapeutic positioning for sleeping.positioning for sleeping.

Post-closure: Post-closure:

– MMT, sensory assessment, home program MMT, sensory assessment, home program instruction (PROM exercises, handling and instruction (PROM exercises, handling and carrying positions, and therapeutic carrying positions, and therapeutic positioning for sleeping).positioning for sleeping).

NewbornNewborn

Therapeutic positioning pre- and post-surgery for Therapeutic positioning pre- and post-surgery for repair of myelomeningocele.repair of myelomeningocele.

Keep an eye out for shunt malfunction.Keep an eye out for shunt malfunction.

(See Table 5-1 on page 178 in Tecklin.)(See Table 5-1 on page 178 in Tecklin.)

(Refer to Tecklin for details of appropriate handling (Refer to Tecklin for details of appropriate handling & positioning, pages 177-178. Keep in mind the & positioning, pages 177-178. Keep in mind the risk of infection to the back and problems with risk of infection to the back and problems with pressure on the lesion site.)pressure on the lesion site.)

The Young ToddlerThe Young Toddler

Typically seen in a transdisciplinary clinic for Typically seen in a transdisciplinary clinic for management of multiple and varied medical, management of multiple and varied medical, surgical needs, and therapeutic needs.surgical needs, and therapeutic needs.

Transdisciplinary teamwork enhances Transdisciplinary teamwork enhances communication, prevents delays in care, communication, prevents delays in care, coordinates management.coordinates management.

Transdisciplinary team consists of: neurosurgeon, Transdisciplinary team consists of: neurosurgeon, orthopedist, urologist, PT, OT, nurse, social orthopedist, urologist, PT, OT, nurse, social worker, and may include others. worker, and may include others.

Concerns for the Young ToddlerConcerns for the Young Toddler

Developmental delay: delayed and Developmental delay: delayed and abnormal head and trunk control, abnormal head and trunk control, righting, and equilibrium responses righting, and equilibrium responses ((See Tecklin, pages 180-182.)See Tecklin, pages 180-182.)

Handling/Positioning: The child needs to Handling/Positioning: The child needs to develop upright head control in many develop upright head control in many positions positions

Structural Problems: Structural Problems: Club FootClub Foot

• Congenital Congenital deformity with deformity with the following the following components: components: adductus, adductus, equinus, varus, equinus, varus, and medial and medial rotationrotation

Structural Problems:Structural Problems:Club Foot Club Foot

Equinus: Equinus: due to combination of a plantar-flexed talus, due to combination of a plantar-flexed talus, posterior ankle capsular contracture and shortening of posterior ankle capsular contracture and shortening of the gastrocnemiusthe gastrocnemius

Varus: Varus: frontal plane parallelism of talus and calcaneus, frontal plane parallelism of talus and calcaneus, contracture of the medial subtalar joint capsules and contracture of the medial subtalar joint capsules and contracture of the posterior tibialiscontracture of the posterior tibialis

Adductus and Medial rotationAdductus and Medial rotation: metatarsus : metatarsus adductus, medial deviation of the neck of the talus, and adductus, medial deviation of the neck of the talus, and medial displacement of the talonavicular joint.medial displacement of the talonavicular joint.

Structural ProblemsStructural Problems

Low Lumbar Paralysis:Low Lumbar Paralysis: ““sloppy knees” from sloppy knees” from

absent lateral absent lateral hamstrings (and active hamstrings (and active medial hamstrings and medial hamstrings and quads)quads)

Consider the nerves that Consider the nerves that innervate these innervate these muscles.muscles.

Orthoses and Equipment typical for Orthoses and Equipment typical for children with SBchildren with SB

• Total contact orthosis Total contact orthosis

• A-frame (Toronto A-frame (Toronto standing frame)standing frame)

• parapodium (Orlau parapodium (Orlau swivel walker) swivel walker)

• Star CartStar Cart

• RGO (new isocentric RGO (new isocentric RGO)RGO)

• HKAFOHKAFO

• rollator walkerrollator walker

• floor reaction AFO floor reaction AFO (a.k.a. anti-crouch (a.k.a. anti-crouch orthosis)orthosis)

• articulating ankle joints articulating ankle joints in S1-level lesionsin S1-level lesions

• twister cablestwister cables

Example of a ParapodiumExample of a Parapodium

• Commonly used for Commonly used for children with high lesions children with high lesions (T12-L3)(T12-L3)

• Offers support to the hips, Offers support to the hips, knees, and ankles.knees, and ankles.

• (See Tecklin for additional (See Tecklin for additional descriptions and descriptions and illustrations of orthoses illustrations of orthoses used for various lesion used for various lesion levels.)levels.)

Activities for the Young Activities for the Young ToddlerToddler

Stimulate automatic balance responses against Stimulate automatic balance responses against gravity in all positions to activate responses in gravity in all positions to activate responses in the lower extremities. the lower extremities.

Encourage brief periods of well-aligned weight-bearing Encourage brief periods of well-aligned weight-bearing throughout the day to stimulate acetabular development throughout the day to stimulate acetabular development (reducing likelihood for hip dysplasia) and prevent (reducing likelihood for hip dysplasia) and prevent osteoporosis. osteoporosis.

Avoid infant walkers, jumper seats, swings, bouncer Avoid infant walkers, jumper seats, swings, bouncer chairs, excessive use of infant car seats.chairs, excessive use of infant car seats.

The AdolescentThe Adolescent

Psychosocial issues: Psychosocial issues:

• dependency on parents or caretakersdependency on parents or caretakers

• poor personal hygiene from lack of poor personal hygiene from lack of independence and motivation, independence and motivation,

• need for vocational trainingneed for vocational training

• loss of “cure fantasy” during adolescenceloss of “cure fantasy” during adolescence

Wheelchair IssuesWheelchair Issues

MY OPINION: I disagree with the statement that MY OPINION: I disagree with the statement that the family should wait until the child is age 5 the family should wait until the child is age 5 or 6 to obtain the first wheelchair (p. 181). or 6 to obtain the first wheelchair (p. 181). Consider the child’s health & quality of life Consider the child’s health & quality of life with and without a wheelchair.with and without a wheelchair.

Consult with the family & interdisciplinary team Consult with the family & interdisciplinary team experts (physicians, Seating Clinic staff, PT experts (physicians, Seating Clinic staff, PT with seating experience,vendors.) before with seating experience,vendors.) before making wheelchair decisions. Errors are making wheelchair decisions. Errors are costlycostly..

The AdultThe Adult

Need to focus on health promotion and fitness.Need to focus on health promotion and fitness.

Watch for overuse syndrome, especially in Watch for overuse syndrome, especially in upper extremities. Also, low back pain.upper extremities. Also, low back pain.

Monitor for safe and properly fitting equipment Monitor for safe and properly fitting equipment (wheelchair, bathroom devices, supportive & (wheelchair, bathroom devices, supportive & protective shoesprotective shoes

Model advocacy to improve access to Model advocacy to improve access to community-based resources.community-based resources.

The AdultThe Adult

Need to change the status quo:Need to change the status quo:

Despite 21st century medicine and treatment Despite 21st century medicine and treatment advances, many children with SB never advances, many children with SB never achieve independence - many never marry, achieve independence - many never marry, never live away from parents. There is never live away from parents. There is notnot necessarily a correlation between the level necessarily a correlation between the level of independence and level of lesion.of independence and level of lesion.

The ChallengeThe Challenge

• Look at the case study in your “Neural Tube Look at the case study in your “Neural Tube Defects” handout. Defects” handout. Can you answer the Can you answer the questions posed for the case presented? questions posed for the case presented?

• Contact your instructor for answers to Contact your instructor for answers to questions posed in the handout.questions posed in the handout.

Sample DocumentationSample Documentation

• Look at the sample documentation of a Look at the sample documentation of a case featuring a child with spina bifida. case featuring a child with spina bifida. Can you relate the content of the Can you relate the content of the medical chart to the development of a medical chart to the development of a PT diagnosis and appropriate plan of PT diagnosis and appropriate plan of care?care? (Give it a try.) (Give it a try.)

SummarySummary

There are several types of neural tube There are several types of neural tube defects with myelomeningocele (or defects with myelomeningocele (or spina bifida) being the most commonly spina bifida) being the most commonly seen by physical therapists.seen by physical therapists.

SummarySummary

A physical therapist examines the A physical therapist examines the individual with spina bifida for sensory individual with spina bifida for sensory and motor deficits as well as perceptual and motor deficits as well as perceptual motor deficits that might result from motor deficits that might result from brain injury secondary to brain injury secondary to hydrocephalus or other neurological hydrocephalus or other neurological complications. complications.

SummarySummary

Common health problems that require Common health problems that require monitoring include: monitoring include:

• musculoskeletamusculoskeletal l deformitiesdeformities (scoliosis), joint and extremity (scoliosis), joint and extremity deformities (joint contractures, club deformities (joint contractures, club foot, hip subluxations, diminished foot, hip subluxations, diminished growth of non-weight bearing limbs), growth of non-weight bearing limbs), osteoporosis osteoporosis

SummarySummary

Neurological/integumentary Neurological/integumentary complicationscomplications: abnormal or : abnormal or damaged nerve tissue (tethering of damaged nerve tissue (tethering of spinal cord with growth),skin spinal cord with growth),skin breakdown, decubitus ulcers and breakdown, decubitus ulcers and other types of skin problemsother types of skin problems

SummarySummary

Cardiopulmonary problems:Cardiopulmonary problems: risk for risk for poor cardiovascular fitnesspoor cardiovascular fitness

other health concernsother health concerns: obesity, latex : obesity, latex allergyallergy

psychosocial problemspsychosocial problems: diminished : diminished self-esteem, poor body image, learned self-esteem, poor body image, learned helplessness, potentially limited social helplessness, potentially limited social interactioninteraction

SummarySummary

• The role of the PT in the care of an The role of the PT in the care of an individual with spina bifida is to individual with spina bifida is to promote functional independence, promote functional independence, prevent complications, and promote prevent complications, and promote optimal health across the life span.optimal health across the life span.

IllustrationsIllustrations

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IllustrationsIllustrations

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