Spina bifida is defined as malformation of the spinal cord. It is classified as neural tube defect which recognized for over 4000 years.
Neural tube defects vary from stillbirth to incidental spina bifida findings. Advances in treatment enable more neural tube defect patients to engage in society.
Myelomeningocele patients experience lower limb paralysis, sensory loss, bladder and bowel dysfunction, and cognitive impairments.
Prenatal detection and early closure of spina bifida reduce complications and improve care levels in patients.
The contemporary treatment of spina bifida emphasizes a team approach to alleviate parental strain and ensure access to essential services for effective care.
Classification of spina bifida
Spina bifida occulta and cystica
Syringomeningocele
Syringomyelocele and syringomyeli
Epidemiology
In the U.S., spina bifida occurs in 1 in 2875 births with higher rates in specific populations.
Approximately 1500 infants yearly born with myelomeningocele. Neural tube defects annually affect 214,000-322,000 pregnancies.
In the U.S., Hispanic women have the highest rate of live births with spina bifida at 3.80 per 10,000.
Surveillance data between 1983 to 1990 shows myelomeningocele birth prevalence higher in females than males.
Anatomy
Pathophysiology
Neural tube defects arise from teratogenic processes leading to neural tube closure failure.
Neural tube defects develop between the 17th and 30th day of gestation when the mother may be unaware of her pregnancy and fetus size is minimal.
Spina bifida cystica poses issues when the meningeal cyst contains spinal cord tissue.
Aggressive shunting for hydrocephalus may result in normal intelligence despite potential seizures.
Young men with myelomeningocele experience abnormal sensation and reduced fertility.
Etiology
Genetic Factors
Environmental Factors
Nutritional Factors
Environmental Toxins and Chemicals
Pesticides and pollutants
Maternal Age and Parity
Genetics
Prognostic Factors
Prenatally diagnosed myelomeningocele with mild ventriculomegaly and lower lesion levels predicts improved childhood developmental outcomes.
Most individuals exhibit abnormalities on neuropsychological tests which is influenced by hydrocephalus presence.
Children with myelomeningocele show common learning impairments in visual and auditory/verbal memory.
Around 75% of children with myelomeningocele shows IQs above 80, but 60% of those shows normal IQs levels with face learning disabilities.
Clinical History
Collect details including prenatal, neonatal, birth, developmental and medical history to understand clinical history of patient.
Physical Examination
Neurological Examination
Musculoskeletal Examination
Urological Examination
Psychosocial and Functional Assessment
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Symptoms in infants:
Lethargy, poor feeding, irritability, ocular motor incoordination, development delay
Symptoms in older children:
Cognitive or behavioral changes, decreased strength, increased spasticity, lower cranial nerve dysfunction, back pain
Differential Diagnoses
Tethered Cord Syndrome
Hydrocephalus
Clubfoot
Diastematomyelia
Sacral Agenesis
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Supportive care is advised for irreparable sacs, active CNS infections, serious bleeding, or critical congenital anomalies.
Patients may require extensive and interdisciplinary treatment by a trained and coordinated team.
Early monitoring of lower extremity motor function is crucial involves serial orthopedic exams to assess muscle strength and joint range for timely intervention.
To prevent outhouse syndrome, attention is necessary as physical issues can lead to social consequences from noncompliance with bowel regimens.
Physical therapy aligns with gross motor milestones; occupational therapy should start early to address motor skill deficits developmentally.
Treatment strategies aim to preserve renal function and ensure infection-free social continence through various bladder drainage methods.
Long-term low bladder pressure maintenance may need medications to decrease pressure and sphincter function.
Children with high bladder pressures may need surgical intervention.
Abnormal anal sphincter function and anorectal sensation in myelomeningocele patients affect voluntary defecation due to S2-S4 spinal involvement.
Assisted bowel programs promote social continence and prevent constipation effectively.
Bracing aims to help patients function optimally based on their neurological condition and intelligence while promoting normal development and enabling ambulation.
Fetal surgery is a major advancement in spina bifida management for myelomeningocele including fetal myelomeningocele repair.
Individuals with spina bifida experience neurogenic bladder to maintain urinary function including clean intermittent catheterization and bladder augmentation.
Orthopedic procedures are required to address skeletal deformities and improve mobility including clubfoot repair and spinal fusion surgery.
use-of-phases-in-managing-spina-bifida
The prenatal management phase focuses on early detection, counseling, and interventions during pregnancy.
Pharmacologic therapy is effective in the treatment phase as it includes the use of antispasmodic agents, anticholinergics, tricyclic antidepressants, and alpha-adrenergic antagonists.
In supportive care and management phase, patients should receive required attention such as lifestyle modification and surgical interventional therapies.
The regular follow-up visits with the physician are scheduled to check the improvement of patients along with treatment response.
Spina bifida is defined as malformation of the spinal cord. It is classified as neural tube defect which recognized for over 4000 years.
Neural tube defects vary from stillbirth to incidental spina bifida findings. Advances in treatment enable more neural tube defect patients to engage in society.
Myelomeningocele patients experience lower limb paralysis, sensory loss, bladder and bowel dysfunction, and cognitive impairments.
Prenatal detection and early closure of spina bifida reduce complications and improve care levels in patients.
The contemporary treatment of spina bifida emphasizes a team approach to alleviate parental strain and ensure access to essential services for effective care.
Classification of spina bifida
Spina bifida occulta and cystica
Syringomeningocele
Syringomyelocele and syringomyeli
In the U.S., spina bifida occurs in 1 in 2875 births with higher rates in specific populations.
Approximately 1500 infants yearly born with myelomeningocele. Neural tube defects annually affect 214,000-322,000 pregnancies.
In the U.S., Hispanic women have the highest rate of live births with spina bifida at 3.80 per 10,000.
Surveillance data between 1983 to 1990 shows myelomeningocele birth prevalence higher in females than males.
Neural tube defects arise from teratogenic processes leading to neural tube closure failure.
Neural tube defects develop between the 17th and 30th day of gestation when the mother may be unaware of her pregnancy and fetus size is minimal.
Spina bifida cystica poses issues when the meningeal cyst contains spinal cord tissue.
Aggressive shunting for hydrocephalus may result in normal intelligence despite potential seizures.
Young men with myelomeningocele experience abnormal sensation and reduced fertility.
Genetic Factors
Environmental Factors
Nutritional Factors
Environmental Toxins and Chemicals
Pesticides and pollutants
Maternal Age and Parity
Prenatally diagnosed myelomeningocele with mild ventriculomegaly and lower lesion levels predicts improved childhood developmental outcomes.
Most individuals exhibit abnormalities on neuropsychological tests which is influenced by hydrocephalus presence.
Children with myelomeningocele show common learning impairments in visual and auditory/verbal memory.
Around 75% of children with myelomeningocele shows IQs above 80, but 60% of those shows normal IQs levels with face learning disabilities.
Collect details including prenatal, neonatal, birth, developmental and medical history to understand clinical history of patient.
Neurological Examination
Musculoskeletal Examination
Urological Examination
Psychosocial and Functional Assessment
Symptoms in infants:
Lethargy, poor feeding, irritability, ocular motor incoordination, development delay
Symptoms in older children:
Cognitive or behavioral changes, decreased strength, increased spasticity, lower cranial nerve dysfunction, back pain
Tethered Cord Syndrome
Hydrocephalus
Clubfoot
Diastematomyelia
Sacral Agenesis
Supportive care is advised for irreparable sacs, active CNS infections, serious bleeding, or critical congenital anomalies.
Patients may require extensive and interdisciplinary treatment by a trained and coordinated team.
Early monitoring of lower extremity motor function is crucial involves serial orthopedic exams to assess muscle strength and joint range for timely intervention.
To prevent outhouse syndrome, attention is necessary as physical issues can lead to social consequences from noncompliance with bowel regimens.
Physical therapy aligns with gross motor milestones; occupational therapy should start early to address motor skill deficits developmentally.
Treatment strategies aim to preserve renal function and ensure infection-free social continence through various bladder drainage methods.
Long-term low bladder pressure maintenance may need medications to decrease pressure and sphincter function.
Children with high bladder pressures may need surgical intervention.
Abnormal anal sphincter function and anorectal sensation in myelomeningocele patients affect voluntary defecation due to S2-S4 spinal involvement.
Assisted bowel programs promote social continence and prevent constipation effectively.
Bracing aims to help patients function optimally based on their neurological condition and intelligence while promoting normal development and enabling ambulation.
Physical Medicine and Rehabilitation
Use a roll-in shower with grab bars and install raised toilet seats.
Ensure accessible restrooms with caregiver space and private changing areas.
Children with myelomeningocele face limited mobility which changes normal development and negatively impacts their self-esteem.
Recreational therapy helps adult independence to assist patients in shopping for personal items.
Proper awareness about spina bifida should be provided and its related causes with management strategies.
Appointments with physician and preventing recurrence of disorder is an ongoing life-long effort.
Physical Medicine and Rehabilitation
Oxybutynin:
It exerts a direct antispasmodic effect on smooth muscle and inhibits muscarinic action of acetylcholine.
Physical Medicine and Rehabilitation
Hyoscyamine:
It is indicated in the management of lower urinary tract disorders with hypermotility.
Physical Medicine and Rehabilitation
Imipramine:
It has anticholinergic activity with alpha-adrenergic activity.
Physical Medicine and Rehabilitation
Terazosin:
It decreases smooth muscle tone in the bladder neck without bladder contractility.
Doxazosin:
It is a selective inhibitor of alpha1-adrenergic receptors in the bladder neck decreases outflow resistance.
Physical Medicine and Rehabilitation
Fetal surgery is a major advancement in spina bifida management for myelomeningocele including fetal myelomeningocele repair.
Individuals with spina bifida experience neurogenic bladder to maintain urinary function including clean intermittent catheterization and bladder augmentation.
Orthopedic procedures are required to address skeletal deformities and improve mobility including clubfoot repair and spinal fusion surgery.
Physical Medicine and Rehabilitation
The prenatal management phase focuses on early detection, counseling, and interventions during pregnancy.
Pharmacologic therapy is effective in the treatment phase as it includes the use of antispasmodic agents, anticholinergics, tricyclic antidepressants, and alpha-adrenergic antagonists.
In supportive care and management phase, patients should receive required attention such as lifestyle modification and surgical interventional therapies.
The regular follow-up visits with the physician are scheduled to check the improvement of patients along with treatment response.
Spina bifida is defined as malformation of the spinal cord. It is classified as neural tube defect which recognized for over 4000 years.
Neural tube defects vary from stillbirth to incidental spina bifida findings. Advances in treatment enable more neural tube defect patients to engage in society.
Myelomeningocele patients experience lower limb paralysis, sensory loss, bladder and bowel dysfunction, and cognitive impairments.
Prenatal detection and early closure of spina bifida reduce complications and improve care levels in patients.
The contemporary treatment of spina bifida emphasizes a team approach to alleviate parental strain and ensure access to essential services for effective care.
Classification of spina bifida
Spina bifida occulta and cystica
Syringomeningocele
Syringomyelocele and syringomyeli
In the U.S., spina bifida occurs in 1 in 2875 births with higher rates in specific populations.
Approximately 1500 infants yearly born with myelomeningocele. Neural tube defects annually affect 214,000-322,000 pregnancies.
In the U.S., Hispanic women have the highest rate of live births with spina bifida at 3.80 per 10,000.
Surveillance data between 1983 to 1990 shows myelomeningocele birth prevalence higher in females than males.
Neural tube defects arise from teratogenic processes leading to neural tube closure failure.
Neural tube defects develop between the 17th and 30th day of gestation when the mother may be unaware of her pregnancy and fetus size is minimal.
Spina bifida cystica poses issues when the meningeal cyst contains spinal cord tissue.
Aggressive shunting for hydrocephalus may result in normal intelligence despite potential seizures.
Young men with myelomeningocele experience abnormal sensation and reduced fertility.
Genetic Factors
Environmental Factors
Nutritional Factors
Environmental Toxins and Chemicals
Pesticides and pollutants
Maternal Age and Parity
Prenatally diagnosed myelomeningocele with mild ventriculomegaly and lower lesion levels predicts improved childhood developmental outcomes.
Most individuals exhibit abnormalities on neuropsychological tests which is influenced by hydrocephalus presence.
Children with myelomeningocele show common learning impairments in visual and auditory/verbal memory.
Around 75% of children with myelomeningocele shows IQs above 80, but 60% of those shows normal IQs levels with face learning disabilities.
Collect details including prenatal, neonatal, birth, developmental and medical history to understand clinical history of patient.
Neurological Examination
Musculoskeletal Examination
Urological Examination
Psychosocial and Functional Assessment
Symptoms in infants:
Lethargy, poor feeding, irritability, ocular motor incoordination, development delay
Symptoms in older children:
Cognitive or behavioral changes, decreased strength, increased spasticity, lower cranial nerve dysfunction, back pain
Tethered Cord Syndrome
Hydrocephalus
Clubfoot
Diastematomyelia
Sacral Agenesis
Supportive care is advised for irreparable sacs, active CNS infections, serious bleeding, or critical congenital anomalies.
Patients may require extensive and interdisciplinary treatment by a trained and coordinated team.
Early monitoring of lower extremity motor function is crucial involves serial orthopedic exams to assess muscle strength and joint range for timely intervention.
To prevent outhouse syndrome, attention is necessary as physical issues can lead to social consequences from noncompliance with bowel regimens.
Physical therapy aligns with gross motor milestones; occupational therapy should start early to address motor skill deficits developmentally.
Treatment strategies aim to preserve renal function and ensure infection-free social continence through various bladder drainage methods.
Long-term low bladder pressure maintenance may need medications to decrease pressure and sphincter function.
Children with high bladder pressures may need surgical intervention.
Abnormal anal sphincter function and anorectal sensation in myelomeningocele patients affect voluntary defecation due to S2-S4 spinal involvement.
Assisted bowel programs promote social continence and prevent constipation effectively.
Bracing aims to help patients function optimally based on their neurological condition and intelligence while promoting normal development and enabling ambulation.
Physical Medicine and Rehabilitation
Use a roll-in shower with grab bars and install raised toilet seats.
Ensure accessible restrooms with caregiver space and private changing areas.
Children with myelomeningocele face limited mobility which changes normal development and negatively impacts their self-esteem.
Recreational therapy helps adult independence to assist patients in shopping for personal items.
Proper awareness about spina bifida should be provided and its related causes with management strategies.
Appointments with physician and preventing recurrence of disorder is an ongoing life-long effort.
Physical Medicine and Rehabilitation
Oxybutynin:
It exerts a direct antispasmodic effect on smooth muscle and inhibits muscarinic action of acetylcholine.
Physical Medicine and Rehabilitation
Hyoscyamine:
It is indicated in the management of lower urinary tract disorders with hypermotility.
Physical Medicine and Rehabilitation
Imipramine:
It has anticholinergic activity with alpha-adrenergic activity.
Physical Medicine and Rehabilitation
Terazosin:
It decreases smooth muscle tone in the bladder neck without bladder contractility.
Doxazosin:
It is a selective inhibitor of alpha1-adrenergic receptors in the bladder neck decreases outflow resistance.
Physical Medicine and Rehabilitation
Fetal surgery is a major advancement in spina bifida management for myelomeningocele including fetal myelomeningocele repair.
Individuals with spina bifida experience neurogenic bladder to maintain urinary function including clean intermittent catheterization and bladder augmentation.
Orthopedic procedures are required to address skeletal deformities and improve mobility including clubfoot repair and spinal fusion surgery.
Physical Medicine and Rehabilitation
The prenatal management phase focuses on early detection, counseling, and interventions during pregnancy.
Pharmacologic therapy is effective in the treatment phase as it includes the use of antispasmodic agents, anticholinergics, tricyclic antidepressants, and alpha-adrenergic antagonists.
In supportive care and management phase, patients should receive required attention such as lifestyle modification and surgical interventional therapies.
The regular follow-up visits with the physician are scheduled to check the improvement of patients along with treatment response.
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