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Spina Bifida

Background

Medical Management Considerations

References

Resources for Families

Advisory Committee

Publication Information

BACKGROUND

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Description and Cause

Spina bifida is a neural tube defect resulting from the failure of the spine to close properly during the first month of pregnancy. It is the most frequently occurring permanently disabling birth defect. Although its cause is unknown, an influencing factor appears to be low maternal folic acid level before conception or during the first few weeks of pregnancy.

Three Types of Spina Bifida

Spina Bifida Occulta: There is an opening in one or more of the vertebrae with no apparent damage to the spinal cord.

Meningocele: The meninges pushes out through an opening in the vertebrae in a sac, but the spinal cord remains intact. This form can be repaired with little or no damage to nerve pathways.

Myelomeningocele: A portion of the spinal cord protrudes through the back, causing severe damage to the spinal cord and nerve pathways.

The remainder of this document addresses this type of spina bifida, myelomeningocele.

Occurrence

  • 1:1,000 live births
  • Recurrence risk: 1 to 5%

Characteristic Features

  • Spinal deformity
  • Paralysis, decreased sensation or muscle weakness below the area of the spine where the incomplete closure occurs
  • Bowel and bladder complications
  • Hydrocephalus
  • Swallowing problems (Arnold-Chiari malformation characterized by a small or misshapen posterior fossa, a reduction in the cerebrospinal fluid pathways and a protrusion of the cerebellar tonsils through the bottom of the skull into the spinal canal or herniation of the cerebellar tonsils.)
  • Possible learning problems (deficits in attention, language, reading, math, etc.)

Common Associations

  • Skin breakdown (may lead to osteomyelitis)
  • Urologic problems
  • Gastrointestinal disorders
  • Respiratory conditions
  • Latex allergy
  • Obesity
  • Scoliosis
  • Tendonitis
  • Hypertension
  • Mobility difficulties
  • Learning disabilities
  • Emotional problems
  • Sleep disorders
  • Other problems resulting from limited mobility

MEDICAL MANAGEMENT CONSIDERATIONS

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Note: These considerations are in addition to the normal medical care provided to an individual without Spina Bifida. All recommendations can be addressed through clinical examination by the primary care provider, unless otherwise noted. As a preventive measure, the U.S. Public Health Services advises all women of childbearing age to consume 0.4 mg of folic acid daily.

I. Management by Age

Ongoing (all ages)

  • Advise those with latex allergy to avoid all products containing latex (gloves, condoms, catheters, etc.); treat allergic reactions promptly
  • Assure adequate fiber and fluid intake (avoid fluid restriction to manage continence problems)
  • Monitor muscle strength and function
  • Watch for signs of shunt malfunction
  • If symptoms of Arnold-Chiari malformation appear (infant brain stem syndrome – symptoms include apnea, stridor, and dysphagia), refer to neurosurgery or CT scan to diagnose, then ensure prompt treatment
  • Encourage and assess self-care skills
  • Emphasize importance of normal, unrestrictive environments
  • Encourage interaction with nondisabled peers
  • Monitor speech and language progress

Infancy (Birth to 1 year)

  • Perform complete physical and neurological exam to detect congenital anomalies
  • If necessary, perform surgery within 48 hours after birth to close newborn’s back
  • Perform shunting to relieve hydrocephalus
  • Provide genetic counseling, including discussion of recurrence risk
  • Provide counseling about the importance of folic acid intake during the mother’s reproductive years and beyond
  • Refer to early intervention programs and Spina bifida/disability support groups
  • Discuss possibility of SSI enrollment

Childhood (1 to 13 years)

  • Consider mobility and seating devices (braces, splints, crutches, wheelchairs, etc.)
  • Refer for physical and occupational therapy evaluation
  • Monitor for scoliosis
  • Refer for psychological evaluation
  • Monitor school progress
  • Recommend and arrange for dental care

Adolescence and Adulthood (13 years and over)

  • Monitor height and weight
  • Monitor school progress
  • Continue to monitor psychological health; refer to mental health provider as needed
  • Discuss community-supported employment opportunities
  • Discuss long-term financial plans
  • Discuss alternative community living resources
  • Monitor prevocational training and vocational activities

II. Management of Specific Secondary Conditions

Skin Breakdown

  • Recommend daily skin inspections
  • Ensure prompt treatment of injury to skin
  • Recommend a sound bowel program
  • Ensure maintenance of urinary tract function
  • Ensure use of properly-fitting orthoses
  • Recommend symmetrical weight-bearing
  • Recommend pressure relief to avoid development of skin breakdown
  • Advise to remove specific inciting causes

Urologic Problems

Consider the following techniques and equipment as necessary*

  • Clean intermittent catheterization
  • Crede’s method
  • Penile clamps
  • Implanted neuroprostheses
  • Implanted artificial sphincters
  • External continuous drainage systems
  • Indwelling catheters
  • Bladder stimulation
  • Diapers
  • Antibiotics, oxybutynin or pro-pantheline

*Note: Most of these require referral to a specialist.

Gastrointestinal Conditions

  • Encourage regular bowel movements after meals (may require use of suppositories, enemas or manual extraction of stool)
  • Suggest diet modifications for bowel control
  • Encourage regular exercise and dietary management
  • Consider colostomy only when an adequate bowel program cannot be achieved

Respiratory Conditions

  • Treat respiratory infections promptly
  • Watch for pneumonia
  • Watch for gastroesophageal reflux
  • Administer pneumococcal and influenza immunizations
  • Refer for imaging studies of the CNS, tube feeding and assisted ventilation, when indicated

REFERENCES

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Peer-reviewed Journal Articles/Academies

Hoeman, S.P. (1997). Primary Care for Children with Spina Bifida. Nurse Practitioner 22(9), 60-62.

Klein, N.W. et al. (1996). Folic Acid and Prevention of Spina Bifida. Journal of the American Medical Association, 275(21), 1636.

Oi, S. et al. (1996). Neurological and Medico-Social Problems of Spina Bifida Patients in Adolescence and Adulthood. Childs Nervous System, 12(4), 181-187.

Wills, K.E. (1993). Neuropsychological Functioning in Children with Spina Bifida and/or Hydrocephalus. Journal of Clinical Child Psychology 22(2), 247-265.

Liptak, G. (1996). Neural Tube Defects. In Children with Disabilities (Fourth Edition). In ML Batshaw (Ed.), Children with Disabilities (4th ed., pp. 529-552). Baltimore: Paul H. Brookes.

Special Interest Groups/Other Publications

Dorval, J. (1994). Achieving and Maintaining Body Systems Integrity and Function: Clinical Issues. Crystal City, Virginia: Centers for Disease Control and Prevention, Spina Bifida Association of America, United Cerebral Palsy Associations, Inc. and Shepherd Spinal Center.

National Information Center for Children and Youth with Disabilities. (1998). Spina Bifida Fact Sheet. Retrieved on May 1, 2006 from http://www.nichcy.org/pubs/factshe/fs12txt.htm

Smith Consultant Group and McGowan Consultants. (1998). Ed: Michele Ligon Snyder, MS. Shunted Hydrocephalus. Health and Wellness Reference Guide. Neri Productions, State of Tennessee Commission on Compliance, 231-233.

Smith Consultant Group and McGowan Consultants. 1998. Ed: Michele Ligon Snyder, MS. Spina Bifida. Health and Wellness Reference Guide. Neri Productions, State of Tennessee Commission on Compliance, 235-238.

Spina Bifida Association of America. (1997). Facts about Spina Bifida. Retrieved on May 1, 2006 from http://www.sbaa.org/site/PageServer?pagename=ASB_faq

RESOURCES FOR FAMILIES

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California Department of Developmental Services, 916-654-1690,

http://www.dds.ca.gov

California Regional Centers, 916-654-1958,

http://www.dds.ca.gov/rc/RCInfo.cfm

Children with Spina Bifida,

http://www.waisman.wisc.edu/~rowley/sb-kids

Guardians of Hydrocephalus Research Foundation, 800-458-8655

Hydrocephalus Association, 415-776-4713

International Federation for Hydrocephalus and Spina Bifida,

http://www.ifglobal.org

March of Dimes Birth Defects Foundation, 914-428-7100,

http://www.marchofdimes.org

National Hydrocephalus Foundation, 815-467-6548

Spina Bifida Association of America, 800-621-3141,

http://sbaa.org

ADVISORY COMMITTEE

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Theodore A. Kastner, M.D., M.S.

Felice Weber Parisi, M.D., M.P.H.

Romie H. Holland, M.D.

PUBLICATION INFORMATION

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Funded by a grant from the California Department of Developmental Services

For more information, contact:

Center for Health Improvement

1330 21st Street, Suite 100

Sacramento, CA 95814

(916) 901-9645

This document does not provide advice regarding medical diagnosis or treatment for any individual case, and any opinions or statements contained in this document are not intended to serve as a standard of medical care. Physicians are encouraged to view the considerations presented in this document in light of evolving scientific information. This document is not intended for use by the layperson. Reproduction of this document may be done with proper credit given to California Department of Developmental Services and the Center for Health Improvement.

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