Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor &...
-
Upload
marcus-heck -
Category
Documents
-
view
246 -
download
0
Transcript of Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor &...
![Page 1: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/1.jpg)
Early detection of Disability
Dr Sankar VHMD (Paed) DM (Medical genetics)Additional Professor & Geneticist
SAT Hospital
![Page 2: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/2.jpg)
What is disabilityThe disability has been defined as the
condition of being unable to perform as a consequence of physical or mental unfitness.Developmental delay/MRVision/hearing defectsAutism ADHDLearning disabilityOrthopedic deformity
![Page 3: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/3.jpg)
Disabilityan impairment in body function or structure,
cataract which prevents the passage of light and sensing of form, shape, and size of visual stimuli;
a limitation in activity the inability to read or move around;
a restriction in participationexclusion from school.
![Page 4: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/4.jpg)
Disability
![Page 5: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/5.jpg)
Children with DisabilitiesChildren with disabilities include those with
health conditions Cerebral palsySpina bifidaMuscular dystrophyTraumatic spinal cord injuryDown syndromeChildren with hearing and visual defectsIntellectual impairments.
![Page 6: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/6.jpg)
![Page 7: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/7.jpg)
![Page 8: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/8.jpg)
Burden of the problem5.1% of World population 0-14 years had
moderate to severe disability and 0.7% experiences severe disability
INCLEAN study on disability identified 10 common disability in children (in India)
![Page 9: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/9.jpg)
Early detection and intervention
If children with developmental delays or disabilities and their families are not provided with timely and appropriate early intervention, support and protection, their difficulties can become more severe—often leading to lifetime consequences, increased poverty and profound exclusion.
![Page 10: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/10.jpg)
Early detection and intervention
Early detection of disability will be the hallmark in reducing the high incidence of disabled children
A number of these disorders are preventable
Substantial proportion can be suitably rehabilitated
![Page 11: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/11.jpg)
Early InterventionThe early detection of disability is the basic
approach to early intervention, which is itself a continuous process, the roles of therapeutic and educational are integrates, to produce all the services for children who are refer to the centers that have provided intervention services as a physical therapy centers and specialized educational centers.
![Page 12: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/12.jpg)
Early InterventionEarly Detection and Early Intervention will
minimize and/or prevent the consequences of an impairment, ultimately preventing the impairment from becoming a disability.
![Page 13: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/13.jpg)
Disability and Social milieu
High prevalence of disability in lower socio-economic group was due to illiteracy and ignorance coupled with meager income which had prevented them to seek proper advise at the appropriate time in order to prevent permanent disability.
![Page 14: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/14.jpg)
Early detection and interventionEarly detection and early
interventionSystem to check young
children for signs of disability
Working with young children who are slow in development or have impairments
Educating and teaching families
Prevent disabilities in babies and young children
14
![Page 15: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/15.jpg)
CBR guidelines: Early detection and Early intervention
![Page 16: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/16.jpg)
Infant stimulation programmeCDC ModelPractical mother oriented stimulation programme
Objectives of early stimulation are Stimulating the child through the normal
developmental channelPrevention of developmental delayPrevention of asymmetries and abnormalitiesDetection of transient abnormalities and
minimization of persistent abnormalities.Nair M K C , CDC, Trivandrum
![Page 17: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/17.jpg)
What is Newborn ScreeningNewborn screening aims at the earliest
possible recognition of disorders to prevent the most serious consequences by timely intervention.
Newborn screening represents a prominent public health service to improve health outcomes
![Page 18: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/18.jpg)
Benefits of NBS
Identification Early interventionReduced morbidity & mortality
Family planning
![Page 19: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/19.jpg)
NB screening in international context
![Page 20: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/20.jpg)
Expanded NBS – 29 conditions20 inborn errors of metabolism3 hemoglobinopathies2 endocrine disorders
Congenital hypothyroidismCongenital adrenal hyperplasia
3 other metabolic disordersCystic fibrosisGalactosemiaBiotinidase deficiency
Hearing loss
![Page 21: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/21.jpg)
![Page 22: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/22.jpg)
Congenital Hypothyroidism
![Page 23: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/23.jpg)
Magnitude of the problem
Population of India – 1.22 billionBirth rate – 22/1000Annual birth- 26 millionChildren with hypothyroidism- 13,000
![Page 24: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/24.jpg)
IMR (proportionate mortality)MORTALITY INDIA USA
NEONATAL 39.8 50.4
INFECTIOUS CAUSES 43.2 12.7
OTHERS 17.0 36.9
In India neonates are not screened since the health policies
have typically targeted mortality and infectious morbidity
World Health Statistics 2009
![Page 25: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/25.jpg)
Epidemiological TransitionIndia is currently undergoing an
epidemiological transition Congenital malformations and genetic
disorders are gradually replacing infectious causes as the major cause of perinatal and neonatal mortality and morbidity
Presently they constitute the second commonest cause (9.2%) of neonatal morbidity in urban areas ( NNF Data)
![Page 26: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/26.jpg)
ICMR Multicentric study on Newborn screening
2 Diseases – CH and CAH11 lakh newborns5 centers in the country (Delhi, Mumbai,
Chennai, Hyderabad and Kolkata) The disease selection based on available
data, early diagnosis and treatment prevent severe disability and treatment affordable to our socioeconomic scenario
![Page 27: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/27.jpg)
NB Screening Project KERALA
44 Hospitals with more than 100 deliveries4 Disorders: CH,CAH, PKU and G6PD deficiencyHeel prick-filter paper sampleAfter 24 HrsSample courier to regional LABSELISA based method for detectionResults informed to primary physicianRecall by primary physician Confirmation & management
![Page 28: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/28.jpg)
Universal Newborn Hearing Screening: Summary of EvidenceJAMA. 2001;286(16):2000-2010.
![Page 29: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/29.jpg)
Public Health ProgramSuccessful NB screening program requires
A suitable testLaboratory quality standardsAvailability to allEffective follow-upRapid access to treatment
Should be a legislatively mandated Universal public health program
![Page 30: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/30.jpg)
Newborn screening Should be a legislatively mandated Universal public health
program
![Page 31: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/31.jpg)
Newborn Screening
![Page 32: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/32.jpg)
NB screening Diseases
![Page 33: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/33.jpg)
![Page 34: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/34.jpg)
![Page 35: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/35.jpg)
Implementation
![Page 36: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/36.jpg)
District Early Intervention Centre
![Page 37: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/37.jpg)
Referral Centers Mapping to identify public health institutions
through collaborative partners for provision of specialized tests and services.
Multidisciplinary comprehensive management centers
![Page 38: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/38.jpg)
Levels of Prevention
![Page 39: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/39.jpg)
PreventionFolic acid therapyRubella immunizationsProper nutritionHabit modificationsControl of diabetesAvoid unnecessary medications
Pre Conception
Care
![Page 40: Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital.](https://reader033.fdocuments.in/reader033/viewer/2022061611/5519c7eb55034649768b4588/html5/thumbnails/40.jpg)