Presentation on theme: "Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital."— Presentation transcript:
Early detection of Disability Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital
What is disability The disability has been defined as the condition of being unable to perform as a consequence of physical or mental unfitness. Developmental delay/MR Vision/hearing defects Autism ADHD Learning disability Orthopedic deformity
Disability an 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 participation exclusion from school.
Children with Disabilities Children with disabilities include those with health conditions Cerebral palsy Spina bifida Muscular dystrophy Traumatic spinal cord injury Down syndrome Children with hearing and visual defects Intellectual impairments.
Burden of the problem 5.1% 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)
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 severeoften leading to lifetime consequences, increased poverty and profound exclusion.
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
Early Intervention The 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.
Early Intervention Early Detection and Early Intervention will minimize and/or prevent the consequences of an impairment, ultimately preventing the impairment from becoming a disability.
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.
Early detection and intervention Early detection and early intervention System 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
CBR guidelines: Early detection and Early intervention
Infant stimulation programme CDC Model Practical mother oriented stimulation programme Objectives of early stimulation are Stimulating the child through the normal developmental channel Prevention of developmental delay Prevention of asymmetries and abnormalities Detection of transient abnormalities and minimization of persistent abnormalities. Nair M K C, CDC, Trivandrum
What is Newborn Screening Newborn 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
Benefits of NBS Identification Early intervention Reduced morbidity & mortality Family planning
Magnitude of the problem Population of India – 1.22 billion Birth rate – 22/1000 Annual birth- 26 million Children with hypothyroidism- 13,000
IMR (proportionate mortality) MORTALITYINDIAUSA NEONATAL INFECTIOUS CAUSES OTHERS In India neonates are not screened since the health policies have typically targeted mortality and infectious morbidity World Health Statistics 2009
Epidemiological Transition India 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)
ICMR Multicentric study on Newborn screening 2 Diseases – CH and CAH 11 lakh newborns 5 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
NB Screening Project KERALA 44 Hospitals with more than 100 deliveries 4 Disorders: CH,CAH, PKU and G6PD deficiency Heel prick-filter paper sample After 24 Hrs Sample courier to regional LABS ELISA based method for detection Results informed to primary physician Recall by primary physician Confirmation & management
Universal Newborn Hearing Screening: Summary of Evidence JAMA. 2001;286(16):
Public Health Program Successful NB screening program requires A suitable test Laboratory quality standards Availability to all Effective follow-up Rapid access to treatment Should be a legislatively mandated Universal public health program
Newborn screening Should be a legislatively mandated Universal public health program
Newborn Screening Advocacy Organizations (IAP,IMA)Political CommitmentFacility Building
NB screening Diseases PHASE 1 Congenital hypothyroidism Deafness PHASE 2 Regionalized screening (Sickle cell disease) CAH, Galactosemia, Biotinidase PHASE 3 Other IEMs Other Genetic disorder
District Early Intervention Centre
Referral Centers Mapping to identify public health institutions through collaborative partners for provision of specialized tests and services. Multidisciplinary comprehensive management centers
Levels of Prevention Primary prevention = stop from occurring Secondary prevention includes early detection and treatment Tertiary prevention = reduce consequences of existing health condition
Prevention Folic acid therapy Rubella immunizations Proper nutrition Habit modifications Control of diabetes Avoid unnecessary medications Pre Conception Care