4. INTRODUCTION
⢠(THETERM SPINA BIFIDA MEANS âSPLIT SPINE.â) SPINA BIFIDA IS USUALLY APPARENT AT
BIRTH.
⢠SPINA BIFIDA IS CAUSED BYTHE INCOMPLETE DEVELOPMENT OFTHE FETUSâ SPINE DURING
SPINE DURINGTHE FIRST MONTH OF PREGNANCY. THE CONDITIONVARIES IN DEGREE, FROM
DEGREE, FROM MILDWITH NO SYMPTOMSTO SEVERE WITH NERVE DAMAGE.
⢠THE CONDITION IS ATYPE OF NEURALTUBE DEFECT (NTD).
5. ⢠THIS SOUNDS SCARYAND SOMETYPESOF SPINA BIFIDAAREVERY SERIOUS. BUT ITâS
IMPORTANTTO KNOWTHATTHE CONDITIONVARIESWIDELY IN DEGREE. MOST CASES ARE
SO MILDTHEY HAVE NO SYMPTOMSAND DONâT EVEN NEEDTREATMENT (THIS OCCURS
WITH SPINA BIFIDA OCCULTA, OR âHIDDEN SPINA BIFIDAâ).
⢠HOWEVER, INFANTS BORNWITHA MORE SERIOUSTYPE OFTHIS DISORDER HAVE OPEN
LESIONSONTHEIR SPINEWHERETHEREâS SIGNIFICANT DAMAGETO NERVESANDTHE
SPINALCORD.THE OPENINGCAN BE REPAIREDTHROUGH SURGERY, BUTTHE NERVE
DAMAGE ISNâT RESOLVEDANDTHAT CAUSES PERMANENT DISABILITY. SPINA BIFIDA CAN
OCCURANYWHERE ALONGTHE BACKBONE, BUT IS MOST OFTEN FOUND INTHE SMALL OF
THE BACK OR FURTHER DOWN.
6. TYPES OF SPINA BIFIDA
THERE ARE THREE MAIN TYPES OF SPINA BIFIDA:
⢠SPINA BIFIDA OCCULTA.
⢠MENINGOCELE.
⢠MYELOMENINGOCELE.
7. SPINA BIFIDA OCCULTA
⢠SPINA BIFIDA OCCULTA ISTHE MILDEST AND MOST COMMON FORM OFTHIS DISORDER. IT
USUALLY ONLY INVOLVES A MINIMAL PORTION OFTHE SPINE; IT USUALLY SHOWS NO
SYMPTOMS, AND IT DOES NOT REQUIRETREATMENT.WHEN AN INFANT IS BORNWITH SPINA
BIFIDA OCCULTA,THE SKIN COVERSTHE DEFORMITY OFTHE SPINAL BONE.
⢠SPINA BIFIDA OCCULTA LITERALLY MEANS "A HIDDEN SPOT ONTHE SPINE,"
⢠RARELY, SPINA BIFIDA OCCULTA WILL CAUSE PROBLEMS WHEN A CHILD GROWSTO
ADOLESCENCE.
8.
9. MENINGOCELE
⢠INTHIS LEAST COMMONTYPE OF SPINA BIFIDA,THE MENINGES (MEMBRANE
SURROUNDINGTHE SPINALCORD) PROTRUDETHROUGHTHE OPENING CAUSINGA LUMP
OR SAC ONTHE BACK.
⢠MORE SEVERETHAN SPINA BIFIDA OCCULTA
⢠MENINGOCELECAN BE REPAIREDTHROUGH SURGERYWITH LITTLE OR NO NERVE DAMAGE
RESULTING.
⢠THE SURGERY IS PERFORMEDAT ANYTIME DURING INFANCY.WITH MENINGOCELES,THE
SPINALCORD HAS DEVELOPED NORMALLYAND IS UNDAMAGED.THECHILD HAS NO
NEUROLOGICAL PROBLEMS.
10.
11. MYELOMENINGOCELE
⢠MYELOMENINGOCELE ISTHE MOST SEVERE FORM OF SPINA BIFIDA, OCCURRING NEARLY
ONCE FOR EVERY 1,000 LIVE BIRTHS.
⢠FOR INFANTS BORNWITH A MYELOMENINGOCELE, THE SPINAL CORD DOES NOT FORM
PROPERLY AND A PORTION OFTHE UNDEVELOPED CORD PROTRUDESTHROUGHTHE BACK. A
SAC CONTAINING CEREBROSPINAL FLUID AND BLOODVESSELS SURROUNDSTHE
PROTRUDING CORD, WHICH IS USUALLY NOT COVERED BY SKIN SOTHATTHE NERVES AND
TISSUES ARE EXPOSED.
12.
13. CONT.âŚ.
⢠INFANTS BORNWITH MYELOMENINGOCELEOFTEN HAVE PARALYSIS ORWEAKNESS
BELOWTHE LEVEL OFTHE SPINAL LESION.
⢠THISAFFECTSTHE LOWER LIMBSALONGWITH PROBLEMSWITH BLADDERAND BOWEL
FUNCTION. IN EXTREMECASES,THETRUNK AND UPPER EXTREMITIESARE INVOLVED.
14. CAUSES
â˘THE EXACT CAUSE OFTHE OCCURRENCE OF SPINA BIFIDA ISNâT CLEAR. A
COMBINATION OF GENETICS AND ENVIRONMENTAL FACTORS AND FAMILY
HISTORY OR NUTRITIONAL SUCH AS A FAMILY HISTORY OF NEURAL
TUBE DEFECTS AND FOLATE (VITAMIN B-9) DEFICIENCY ISTHOUGHT
TO BETHE MAIN CAUSE
15. DIAGNOSTIC TEST
SPINA BIFIDA CAN USUALLY BE DETECTED INTHE FETUS, BUT NOT ALWAYS.THESETESTS INCLUDE:
⢠A BLOODTEST:TAKEN DURINGTHE 16THTO 18TH WEEKOF PREGNANCY,THIS SCREENINGTESTS
SCREENINGTESTSTHE AMOUNT OF AFP (ALPHA-FETOPROTEIN) INTHE BLOOD.THE AMOUNT IS
HIGHER IN ABOUT 75%TO 80% INWOMENWHO CARRY A FETUSWITH SPINA BIFIDA.
⢠AN ULTRASOUND (SONOGRAM): PROBLEMSWITHTHE FETUSâS SPINE MAY BE SPOTTEDTHROUGH
THROUGH IMAGING.
⢠AMNIOCENTESIS: FLUID FROMTHEWOMB IS REMOVEDTHROUGH ATUBETOTEST FOR PROTEIN
PROTEIN LEVELS.
16. TREATMENT
THE TWO MAIN SPINA BIFIDA TREATMENT OPTIONS ARE
ď§FETAL SURGERY DURING PREGNANCY
ď§SURGERY ON THE BABY RIGHT AFTER BIRTH.
17. NURSING CARE
NURSING CARE PLANNING GOALS FOR CLIENTS WITH SPINA BIFIDA INCLUDE
⢠PREVENT INFECTION,
⢠MAINTAIN SKIN INTEGRITY,
⢠PREVENT TRAUMA RELATED TO DISUSE,
⢠INCREASE FAMILY COPING SKILLS,
⢠EDUCATION ABOUT THE CONDITION, AND SUPPORT.
18. REHABILITATIVE CARE
⢠REHABILITATIVE TREATMENTS FOR CHILDREN WITH SPINA BIFIDA.
⢠PHYSICAL, OCCUPATIONAL, AND SPEECH THERAPY ARE OFTEN AN INTEGRAL
PART OF CARE.
⢠THEY CAN HELP CHILDREN IMPROVE MUSCLE COORDINATION AND BALANCE,
BUILD STRENGTH, AND OVERCOME LANGUAGE DELAYS. OUR
NEUROMUSCULAR EXPERTS ALSO HELP CHILDREN LEARN TO FUNCTION
INDEPENDENTLY, BUILD SOCIAL SKILLS, AND GAIN CONFIDENCE.
19. MEDICAL AND SURGICAL MANAGEMENT
⢠INITIAL SURGERY TO REPAIR THE SPINE
⢠TREATING HYDROCEPHALUS
⢠PHYSIOTHERAPY
⢠OCCUPATIONAL THERAPY
⢠MOBILITY AIDS
⢠TREATING BONE AND JOINT PROBLEMS
⢠TREATING BLADDER PROBLEMS
⢠TREATING BOWEL PROBLEMS
20. INSTITUTES HELPING CHILD WITH SPINA BIFIDA
â˘SPINA BIFIDA FOUNDATION PAKISTAN
â˘SPARC(SOCIETY FOR THE PROTECTION OF THE RIGHTS OF THE
CHILD) ADVOCATES FOR PROTECTION OF CHILD RIGHTS BY
PROVIDING TRAININGS TO CHILD RIGHTS ACTIVISTS
21.
22. CEREBRAL PALSY
â˘NEUROLOGICAL DISORDER WHICH MAY OCCUR BEFORE BIRTH,
DURING BIRTH OR AFTER BIRTH.
â˘ACCORDING TO CDC OUT OF EVERY 1000 CHILDREN CEREBRAL
PALSY AFFECTS 1.5 TO 4 CHILDREN WORLD WIDE.
23. CEREBRAL PALSY
⢠CEREBRALâŚâŚHAVING TO DO WITH BRAIN
⢠PALSYâŚâŚ. WEAKNESS OR PROBLEMS WITH BODY MOVEMET.
ďMEDICAL CONDITION USUALLY CAUSED BY ABNORMAL BRAIN DEVELOPMENT
BEFORE OR AT BIRTH THAT CAUSES THE LOSS OF CONTROL OF THE ARMS AND
LEGS.
ďCONGENITAL DISORDER OF MOVEMENT, MUSCLE TONE OR POSTURE.
24. SIGNS AND SYMPTOMS:
â˘THE BRAIN CAUSING CP DOES NOT CHANGE WITH TIME SO THE
SYMPTOMS USUALLY DONâT WORSEN WITH AGE.
ďVARIATION IN MUSCLES TONE.
ďDELAYS IN REACHING MOTOR SKILLS MILESTONES.
ďATAXIA
ďSPASTICITY
ďDIFFICULTY IN WALKING, WRITING, SPEAKING AND LEARNING.
ďEXCESSIVE DROOLING AND PROBLEM WITH SWALLOWING.
30. SPASTIC CP:
AFFECTING APPROXIMATELY 80% OF PEOPLE WITH CP.
ďŹMUSCLES WEAKNESS AND PARALYSIS MAY BE PRESENT.
ďŹTHE SYMPTOMS CAN AFFECT THE ENTIRE BODY OR JUST ONE SIDE OF BODY.
SYMPTOMS:
ďŹINVOLUNTARY LIMB MOVEMENT.
ďŹCONTINUOUS MUSCLES SPASMS.
ďŹABNORMAL WALKING .
ďŹFLEXION AT THE ELBOW, WRISTS,FIGERA ETC.
31. a.DYSKINETIC CP:
â˘THIS CAUSE INVOLUNTARY, ABNORMAL MOVEMENT IN THE ARMS
LEGS AND HANDS.
a.HYPOTONIC CP:
â˘CAUSES DEMINISHED MUSCLES TONE AND OVERLY RELAXED
MUSCLES.
â˘THE ARMS AND LEGS MOVE VERY EASILYAND APPEAR FLOPPY.
32. ATAXIC CP:
⢠CHARACTERIZED BY VOLUNTARY MUSCLES MOVEMENT THAT OFTEN APPEAR
DISORGANIZED,CLUMPSY AND JERKY.
⢠PEOPLE WITH THIS FORM OF CP USUALLY HAVE PROBLEMS WITH BALANCE AND
CORDINATION.
SYMPTOMS:
⢠UNSTEADY MOVEMENT DUE TO DIFFICULTY IN BALANCE
⢠TREMORS
⢠SLOW EYE MOVEMENT
⢠DIFFICULTY IN FINGERS MOVEMENT
33. MIXED CEREBRAL PALSY:
â˘SOME PEOPLE HAVE A COMBINATION OF SYMPTOMS FROM THE
DIFFERENT TYPES OF CP,THIS IS CALLED MIXED CP.
â˘IN MOST CASES OF MIXED CP, PEOPLE EXPERIENCE A MIX OF SPASTIC
AND DYSKINETIC CP.
â˘PREVENTION:
â˘MAKE SURE YOU ARE VACCINATED (RUBELLA)
â˘TAKE CARE OF OF YOUR SELF BY TAKING HEALTHY DIET AND
REGULAR MEDICINES.
â˘REGULAR VISIT TO THE DR DURING PREGNANCY;
â˘PREVENT HEAD INJURIES.
â˘AVOID ALCOHOL ,TOBACCO AND ILLEGAL DRUGS DURING
PREGNANCY.
36. NURSING MANAGEMENT:
â˘PROVIDE ADEQUATE NUTRITION.
â˘MAINTAIN SKIN INTEGRITY.
â˘PROMOTE SAFETY.
â˘PROMOTE GROWTH AND DEVELOPMENT.
â˘TEACH PARENT SHOW TO CARE FOR CHILD.
â˘PROVIDE EMOTIONAL SUPPORT..
37.
38. MUSCULAR DYSTROPHY
INTRODUCTION:
ďˇ MUSCULAR DYSTROPHIES (MDS) CONSTITUTE THE LARGEST AND
MOST IMPORTANT SINGLE GROUP OF MUSCLE
DISEASES OF CHILDHOOD.
ďˇ THE MDS HAVE A GENETIC ORIGIN IN WHICH THERE IS GRADUAL
DEGENERATION OF
MUSCLE FIBERS, AND THEY ARE CHARACTERIZED BY
PROGRESSIVE WEAKNESS AND WASTING OF SYMMETRIC
GROUPS OF SKELETAL MUSCLES, WITH INCREASING DISABILITY
AND DEFORMITY.
39. THE MOST COMMON FORM,
I. DUCHENNE MUSCULAR DYSTROPHY (DMD).
II.FACIOSCAPULOHUMERAL (LANDOUZY-DEJERINE) MUSCULAR DYSTROPHY
⢠LIMB-GIRDLE MUSCULAR DYSTROPHY (LGMD
40. CLINICAL MANIFESTATION:
⢠ALTHOUGH GIRLS CAN BE CARRIERS AND MILDLY AFFECTED, IT'S MUCH MORE
COMMON IN BOYS.
⢠SIGNS AND SYMPTOMS, WHICH TYPICALLY APPEAR IN EARLY CHILDHOOD, MIGHT
INCLUDE:
ďˇ FREQUENT FALLS
ďˇ DIFFICULTY RISING FROM A LYING OR SITTING POSITION
ďˇ TROUBLE RUNNING AND JUMPING
ďˇ WADDLING GAIT
ďˇ WALKING ON THE TOES
ďˇ LARGE CALF MUSCLES
ďˇ MUSCLE PAIN AND STIFFNESS
ďˇ LEARNING DISABILITIES
ďˇ DELAYED GROWTH
41. CAUSES
ďˇ CERTAIN GENES ARE INVOLVED IN MAKING PROTEINS THAT PROTECT MUSCLE
FIBERS. MUSCULAR DYSTROPHY OCCURS WHEN ONE OF THESE GENES IS
DEFECTIVE.
ďˇ EACH FORM OF MUSCULAR DYSTROPHY IS CAUSED BY A GENETIC MUTATION
PARTICULAR TO THAT TYPE OF THE DISEASE. MOST OF THESE MUTATIONS ARE
INHERITED.
42. COMPLICATION
â˘THE COMPLICATIONS OF PROGRESSIVE MUSCLE WEAKNESS INCLUDE:
ďˇ TROUBLE WALKING. SOME PEOPLE WITH MUSCULAR DYSTROPHY
EVENTUALLY NEED TO USE A WHEELCHAIR.
ďˇ TROUBLE USING ARMS. DAILYACTIVITIES CAN BECOME MORE
DIFFICULT IF THE MUSCLES OF THE ARMS AND SHOULDERS ARE
AFFECTED.
ďˇ SHORTENING OF MUSCLES OR TENDONS AROUND JOINTS
(CONTRACTURES). CONTRACTURES CAN FURTHER LIMIT MOBILITY.
ďˇ BREATHING PROBLEMS. PROGRESSIVE WEAKNESS CAN AFFECT THE
MUSCLES ASSOCIATED WITH BREATHING. PEOPLE WITH MUSCULAR
DYSTROPHY MIGHT EVENTUALLY NEED TO USE A BREATHING
ASSISTANCE DEVICE (VENTILATOR), INITIALLYAT NIGHT BUT POSSIBLY
ALSO DURING THE DAY.
43. CURVED SPINE (SCOLIOSIS). WEAKENED MUSCLES MIGHT
BE UNABLE TO HOLD THE SPINE STRAIGHT.
ďˇ HEART PROBLEMS. MUSCULAR DYSTROPHY CAN
REDUCE THE EFFICIENCY OF THE HEART MUSCLE.
ďˇ SWALLOWING PROBLEMS. IF THE MUSCLES INVOLVED
WITH SWALLOWING ARE AFFECTED, NUTRITIONAL
PROBLEMS AND ASPIRATION PNEUMONIA CAN DEVELOP.
FEEDING TUBES MIGHT BE AN OPTION.
44. CHARACTERISTICS OF MUSCULAR DYSTROPHY:
â˘EARLY ONSET, USUALLY BETWEEN 3 AND 7 YEARS OLD
⢠PROGRESSIVE MUSCULAR WEAKNESS, WASTING, AND
CONTRACTURES
⢠CALF MUSCLE PSEUDOHYPERTROPHY IN MOST
PATIENTS
⢠LOSS OF INDEPENDENT AMBULATION BY 9 TO 12
YEARS OLD
⢠SLOWLY PROGRESSIVE, GENERALIZED WEAKNESS
DURING TEENAGE YEARS
45. NURSING CARE
ďˇ THE MAJOR EMPHASIS OF NURSING CARE IS TO HELP THE CHILD
AND FAMILY COPE WITH A CHRONIC,
PROGRESSIVE, INCAPACITATING DISEASE;
ďˇ THE GOALS OF CARE SHOULD ALSO INVOLVE DECISIONS
REGARDING QUALITY OF LIFE,
ACHIEVEMENT OF INDEPENDENCE, AND TRANSITION TO
ADULTHOOD.
ďˇ NURSES CAN ASSIST WITH DECISION MAKING BY EXPLORING ALL
AVAILABLE OPTIONS AND RESOURCES
AND SUPPORT THE CHILD AND FAMILY IN THE DECISION.
ďˇ OLDER BOYS WITH MD MAY ALSO NEED PSYCHIATRIC OR
PSYCHOLOGICAL COUNSELING TO DEAL WITH ISSUES SUCH AS
DEPRESSION, ANGER, AND QUALITY OF LIFE.
ďˇ NURSES CAN BE ALERT TO THE PROBLEMS AND NEEDS AND MAKE
NECESSARY REFERRALS
WHEN SUPPLEMENTARY SERVICES ARE INDICATED.
46. REHABILITATION CARE
ďˇ MINIMIZING CONTRACTURES BY INTRODUCING REGULAR
STRETCHING INTO YOUR DAILY ROUTINE
ďˇ MAINTAINING FUNCTION AND ADAPTING TO ANY LOSS OF FUNCTION
ďˇ MONITORING FUNCTION OVER TIME THROUGH STANDARD TESTS AND
MEASURES
ďˇ ASSESSING FOR AND MANAGING COMPROMISED SKIN INTEGRITY
ďˇ PREVENTING AND MANAGING PAIN
ďˇ PRESCRIBING EXERCISE AND SUPERVISING SAFE PHYSICALACTIVITY
(I.E. LOW LOAD, LOW RESISTANCE EXERCISE)
ďˇ RECOMMENDING MOBILITY DEVICES, ADAPTIVE SEATING, AND OTHER
EQUIPMENT
ďˇ REHABILITATION AFTER INJURY OR FRACTURE
47. MEDICAL MANAGEMENT
ďˇ CORTICOSTEROIDS, SUCH AS PREDNISONE AND DEFLAZACORT (EMFLAZA), WHICH CAN HELP
MUSCLE STRENGTH AND DELAY THE PROGRESSION OF CERTAIN TYPES OF MUSCULAR
DYSTROPHY. BUT PROLONGED USE OF THESE TYPES OF DRUGS CAN CAUSE WEIGHT GAIN AND
WEAKENED BONES, INCREASING FRACTURE RISK.
ďˇ HEART MEDICATIONS, SUCH AS ANGIOTENSIN-CONVERTING ENZYME (ACE) INHIBITORS OR BETA
BLOCKERS, IF MUSCULAR DYSTROPHY DAMAGES THE HEART.
ďˇ GOLODIRSEN (VYONDYS 53) FOR TREATMENT OF SOME PEOPLE WITH DUCHENNE DYSTROPHY
WHO HAVE A CERTAIN GENETIC MUTATION.
48. SURGICAL MANAGEMENT
ďˇ SURGERY MIGHT BE NEEDED TO CORRECT CONTRACTURES OR A SPINAL
CURVATURE THAT COULD EVENTUALLY MAKE BREATHING MORE DIFFICULT.
HEART FUNCTION MAY BE IMPROVED WITH A PACEMAKER OR OTHER CARDIAC
DEVICE.
49. OVERVIEWOF INSTITUTE WORKING IN PAKISTAN
I. MUSCULAR DYSTROPHY REGISTRY OF PAKISTAN:
⢠THE MUSCULAR DYSTROPHY REGISTRY OF PAKISTAN HAS BEEN SETUP WITH A GOAL TO
IMPROVE OUTCOMES AND QUALITY OF LIFE IN PATIENTS WITH MUSCULAR DYSTROPHIES AND
RELATED NEUROMUSCULAR DISORDERS. THE REGISTRY IS CURRENTLY RECRUITING PATIENTS
WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY.
50. I. BAQAI INSTITUTE OF PHYSICAL THERAPY REHABILITATION MEDICINE
â˘THE DEPARTMENT OF PHYSIOTHERAPY WAS ESTABLISHED IN 2004. THE
DEPARTMENT AND ITS MANAGEMENT ARE ALWAYS COMMITTED TO SERVE
THE RURAL POPULATION SPECIALLY.
PHYSIOTHERAPIST IN THE DEPARTMENT WORK WITH THE
MULTIDISCIPLINARY TEAM OF HEALTH CARE PROVIDERS TO PROVIDE
HOLISTIC CARE THAT IS ALIGNED WITH PATIENTâS TREATMENT GOALS.
THE DEPARTMENT STRIVES TO PROVIDE INPATIENT AND OUTPATIENTS
SERVICES THAT IS BASED ON THE HIGH STANDARDS OF CARE AND QUALITY.
THE DEPARTMENT OFFERS ITS SERVICES TO THE HOSPITALâS ICUS, HDUS,
AND MULTIDISCIPLINARY WARDS.
THE INPATIENT AND OUTPATIENT PHYSIOTHERAPY SERVICES OFFER
ASSESSMENT FUNCTION, MOBILIZATION AND ABILITY TO FUNCTION
INDEPENDENTLY AND TO RESTORE QUALITY OF LIFE.
72. Rehabilitation care
Approximately 40% of patients who are
hospitalized with GBS will require admission to
inpatient rehabilitation. For GBS persons
necessitating admission to inpatient rehabilitation,
the requirement of prior ventilator support most
strongly predicts an extended length of stay on
inpatient rehabilitation.
73.
74. Overview in Pakistan
The Aga Khan University Hospital, Karachi, Pakistan. )
Thirty-four cases of GBS were admitted to the hospital during the study
period, with an age range of 3 to 70 years. The mean age for disease
onset was 35.2 years for female patients, compared to 30 years for
males; the male/female ratio was 1.6:1.Gastrointestinal infections (12/22,
54.6%) were the most common antecedent event, followed by upper
respiratory tract infections (9/22, 40.9%) and skin lesions (1/22, 4.5%).
Most patients developed GBS within one month of the preceding
infection. Cranial nerve abnormalities (30/34, 88.2%), autonomic
dysfunction (21/34, 61.8%) and respiratory failure requiring intubation
(19/34, 55.9%) were also common
75. Overview in Pakistan
We found that GBS occurred at all ages and was slightly
more common in males. Majority of patients had an
antecedent history of infection and had severe disease on
presentation. The patients were treated with either
plasmapheresis or intravenous immunoglobulins and there
was no significant difference in outcome in the two groups.
Despite severe persistent disability, in-hospital mortality
was low