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TreatmentThere is no cure for polioThe focus of modern treatment has been on providing relief of symptoms, speeding recovery and preventing complications Supportive measures include:Antibiotics to prevent infections in weakened musclesAnalgesics for painModerate exercise and a nutritious diet

Treatment of polio often requires long-term rehabilitation, including:Occupational therapyPhysical therapyBracesCorrective shoes Orthopedic surgery

PrognosisAbortive polio infections recover completelyThose who develop only aseptic meningitis, the symptoms can be expected to persist for two to ten days, followed by complete recovery In cases of spinal polio, if the affected nerve cells are completely destroyed, paralysis will be permanentlf spinal polio recover fully; one-quarter recover with mild disability, and the remaining quarter are left with severe disability Spinal polio is rarely fatal

Overall, 510% of patients with paralytic polio die due to the paralysis of muscles used for breathing The mortality rate varies by age: 25% of children and up to 1530% of adults die Bulbar polio often causes death if respiratory support is not providedRecovery

Many cases of poliomyelitis result in only temporary paralysis Recovery is usually complete in six to eight monthsParalysis remaining after one year is likely to be permanent, although modest recoveries of muscle strength are possible 12 to 18 months after infection

ComplicationsResidual complications of paralytic polio often occur following the initial recovery process Muscle paresis and paralysisEquinus foot (similar to club foot)Deformities of the spine (such as scoliosis) Osteoporosis bone fractures

Complications from prolonged immobility involving the lungs, kidneys and heart include pulmonary edemaAspiration pneumoniaUrinary tract infectionsKidney stonesParalytic ileusMyocarditis and cor pulmonale

Down syndromeDR SHABIR AHMEDASSISTANT PROFESSOR PEDIATRICSMBBS,MCPS,FCPS10Down syndromeDown syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21 It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8 or 9year old child, but this varies widelyDown syndrome is the most common chromosome abnormality in humans, occurring in about 1 per 1000 babies born each yearSigns and symptomsThose with Down syndrome nearly always have physical and intellectual disabilities As adults their mental abilities are typically similar to that of an 8 or 9year old They also typically have poor immune function and generally reach developmental milestones at a later agethey have an increased risk of a number of other health problems, including: congenital heart disease, leukemia, thyroid disorders, and mental illness.Mental impairment99%Abnormal teeth60%Stunted growth90%Slanted eyes60%Umbilical hernia90%Shortened hands60%Increased skin back of neck80%Short neck60%Low muscle tone80%Obstructive sleep apnea60%Narrow roof of mouth76%Bent fifth finger tip57%Flat head75%Brushfield spots in the iris56%Flexible ligaments75%

Single transverse palmar crease53%Large tongue75%Protruding tongue47%Abnormal outer ears70%Congenital heart disease40%Flattened nose68%Strabismus 35%Separation of 1st and 2nd toes68%Undescended testicles20%

PhysicalPeople with Down syndrome may have some or all of the following physical characteristics:Small chin, slanted eyes, poor muscle toneFlat nasal bridge, single crease of the palm, and a protruding tongue due to a small mouth and large tongue These airway changes lead to obstructive sleep apnea in around half of those with Down syndrome Other common features include: a flat and wide face, a short neckExcessive joint flexibilityExtra space between big toe and second toeAbnormal patterns on the fingertips and short fingersInstability of the atlanto-axial joint occurs in approximately 20% and may lead to spinal cord injury in 12%Hip dislocations may occur without trauma in up to a third of people with Down syndromeGrowth in height is slower resulting in adults who tend to have short staturethe average height for men is 154cm (5 feet 1inch) and for women is 142cm (4 feet 8inches)

Individuals with Down syndrome are at increased risk for obesity as they age There are growth charts specifically for children with Down syndrome

NeurologicalMost individuals with Down syndrome have mild (IQ: 5070) or moderate (IQ: 3550) intellectual disability with some cases having severe (IQ: 2035) Those with mosaic Down syndrome typically have IQ scores 1030 points higher As they age people with Down syndrome typically perform less well compared to their same-age peersSome after 30years of age may lose their ability to speakDown syndrome causes about a third of cases of intellectual disability Many developmental milestones are delayed with the ability to crawl typically occurring around 8months rather than 5monthThe ability to walk independently typically occurring around 21months rather than 14monthsChildren and adults with Down syndrome are at increased risk of epileptic seizures which occur in 510% of children and up to 50% of adults This includes an increased risk of a specific type of seizure called infantile spasms Many (15%) who live 40 years or longer develop dementia of the Alzheimer's type In those who reach 60years of age, 5070% have the disease

SensesHearing and vision disorders occur in more than half of people with Down syndrome Vision problems occur in 38 to 80% Between 20 and 50% have strabismus, in which the two eyes do not move together Cataracts (cloudiness of the len of the eye) occur in 15% and may be present at birth

Keratoconus (a thin, cone-shaped corneas) and glaucoma (increased eye pressure) are also more common as are refractive errors requiring glasses or contacts Brushfield spots (small white or grayish/brown spots on the outer part of the iris) are present in 38 to 85% of individuals

Hearing problems are found in 5090% of children with Down syndrome This is often the result of otitis media with effusion which occurs in 5070% and chronic ear infections which occurs in 40 to 60% Ear infections often begin in the first year of life and are partly due to poor eustachian tube function Excessive ear wax can also cause hearing loss due to obstruction of the outer ear canal

HeartThe rate of congenital heart disease in newborns with Down syndrome is around 40% Of those with heart heart disease about 80% have an atrioventricular septal defect or ventricular septal defect Mitral valve problems become common as people age, even in those without heart problems at birth

Other problems that may occur include: tetralogy of Fallot and patent ductus arteriosus People with Down syndrome have a lower risk of hardening of the arteries

CancerAlthough the overall risk of cancer is not changed; there is an increased risk of leukemia and testicular cancer and a reduced risk of solid cancers Solid cancers are believed to be less common due to increased expression of tumor suppressor genes present on chromosome 21Cancers of the blood are 10 to 15 times more common in children with Down syndrome In particular, acute lymphoblastic leukemia is 20 times more common Megakaryoblastic form of acute myelogenous leukemia is 500 times more common

EndocrineProblems of the thyroid gland occur in 2050% of individuals with Down syndrome Low thyroid is the most common form, occurring in almost half of all individualsThyroid problems can be due to a poorly or non functioning thyroid at birth (known as congenital hypothyroidism) which occurs in 1% or can develop later due to an attack on the thyroid by the immune system resulting in Graves disease or autoimmune hypothyroidism Type 1 diabetes mellitus is also more common

GastrointestinalConstipation occurs in nearly half of people with Down syndrome and may result in changes in behavior One potential cause is Hirschsprung's disease, which is due to a lack of nerve cells controlling the colon, which occurs in 2 to 15% Other frequent congenital problems include: duodenal atresia, pyloric stenosis, Meckel diverticulum And imperforate anus Celiac disease affects about 720% and gastroesophageal reflux disease is also more commonFertilityMales with Down syndrome usually do not father children, while females have lower rates of fertility relative those who are unaffected Fertility is estimated to be present in 3050% of women Menopause typically occurs at an earlier age The poor fertility in men is thought to be due to problems with sperm development; however, it may also be related to not being sexually active

GeneticsDown syndrome is caused by having three copies of the genes on chromosome 21, rather than the usual twoThe parents of the affected individual are typically genetically normal Those who have one child with Down syndrome have about a 1% risk of having a second child with the syndrome if both parents are found to have normal karyotypes

Trisomy 21Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21Trisomy 21 (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) is caused by a failure of the 21st chromosome to separate during egg or sperm developmentTranslocationThe extra chromosome 21 material may also occur due to a Robertsonian translocation in 24% cases In this situation, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14ScreeningCombined test 1013.5wks 8287%Uses ultrasound to measure nuchal translucency in addition to blood tests for free or total beta-hCG and PAPP-AQuad screen 1520wks 81% measures the maternal serum alpha-fetoprotein, unconjugated estriol, hCG, and inhibin-A Integrated test 1520wks 9496% is a combination of the quad screen, PAPP-A, and NTCell-free fetal DNAA blood sample is taken from the mother by venipuncture and is sent for DNA analysis

DiagnosisBefore birthWhen screening tests predict a high risk of Down syndrome, a more invasive diagnostic test (amniocentesis or chorionic villus sampling) is needed to confirm the diagnosis Amniocentesis and chorionic villus sampling are more reliableHowever, they carry an increased risk of miscarriage of between 0.5 and 1% There is also an increased risk of limb problems in the offspring due to the procedure

The risk from the procedure is greater the earlier it is performed Thus amniocentesis is not recommended before 15weeks gestational ageAnd chorionic villus sampling before 10weeks gestational age

Abortion rates

About 92% of pregnancies in the United Kingdom and Europe with a diagnosis of Down syndrome are terminated In the United States termination rates are around 67%However this varies significantly depending upon the population looked atAfter birthThe diagnosis can often be suspected based on the child's physical appearance at birth An analysis of the child's chromosomes is needed to confirm the diagnosis and determine if a translocation is present This may help determine the risk of the child's parents having further children with Down syndrome

ManagementEfforts such as early childhood intervention, screening for common problems, medical treatment where indicatedA good family environment, and work related training can improve the development of children with Down syndrome Education and proper care can improve quality of life Typical childhood vaccinations are recommendedA number of health organizations have issued recommendations for screening those with Down syndrome for particular diseases It is recommended that this be done systematicallyAt birth all children should get an electrocardiogram and ultrasound of the heart Surgical repair of heart problems may be required as early as three months of age

Heart valve problems may occur in young adults, and further ultrasound evaluation may be needed in adolescents and in early adulthood

Due to the elevated risk of testicular cancer, some recommend annual check upCognitive developmentHearing aids or other amplification devices can be useful for language learning in those with hearing lossSpeech therapy may be useful and it is recommended that it be started around 9 months of age As those with Down's typically have good hand eye coordination, learning sign language may be possibleAugmentative and alternative communication methods, such as pointing, body language, objects, or pictures are often used to help with communication Behavioral issues and mental illness are typically managed with counselling and or medicationsEducation programs before reaching school age may be useful School-age children with Down syndrome may benefit from inclusive education (whereby students of differing abilities are placed in classes with their peers of the same age) In United States the Individuals with Disabilities Education Act of 1975 requires that public schools generally allow attendance by students with DownsOther treatment

A tonsillectomy is also often done to help with sleep apnea and throat infections Physical therapy and participation in physical education may improve motor skills Evidence to support this in adults; however, is not very goodEfforts to prevent respiratory syncytial virus (RSV) with human monoclonal antibodies should be considered, especially in those with heart problemsDown syndrome patient develop dementia Plastic surgery has been suggested as a method of improving the appearance and thus the acceptance of people with Downs It has also been proposed as a way to improve speech Evidence, however, does not support a meaningful difference in either of these outcomes Plastic surgery on children with Down syndrome is uncommon and continues to be controversial

PrognosisBetween 5 and 15% of children with Down syndrome in Europe attend regular school Some graduate from high school; however, most do not Of those with intellectual disabilities in the United States who attended high school about 40% graduated Many learn to read and write and some are able to do paid work In adulthood about 20% in the United States do paid work in some capacity In Europe, however, less than 1% have regular jobs Many are able to live semi-independently but they often require help with financial, medical, and legal matters Those with mosaic Down syndrome usually have better outcomes

Individuals with Down syndrome have a higher risk of death than the general population This is most often from heart problems or infections Following improved medical care, particularly for heart and gastrointestinal problems, the life expectancy has increasedSpecial education and training is offered in most communities for children with delays in mental development Speech therapy may help improve language skills Physical therapy may teach movement skills Occupational therapy may help with feeding and performing tasks Mental health care can help both parents and the child manage mood or behavior problems Special educators are also often needed