Presentation is loading. Please wait.

Presentation is loading. Please wait.

Early detection of Disability

Similar presentations

Presentation on theme: "Early detection of Disability"— Presentation transcript:

1 Early detection of Disability
Dr Sankar VH MD (Paed) DM (Medical genetics) Additional Professor & Geneticist SAT Hospital

2 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

3 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.

4 Disability Defect Impairment Disability

5 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.



8 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)

9 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.

10 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

11 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.

12 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.

13 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.

14 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

15 CBR guidelines: Early detection and Early intervention

16 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

17 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

18 Benefits of NBS Identification Early intervention
Reduced morbidity & mortality Family planning Slide 5: Benefits of NBS Identification Early intervention: Start treatment before symptoms present Diagnosis while newborn is in crisis – earlier, targeted treatment Reduction in unnecessary investigations Cost-saving Reduced morbidity and mortality: Prevent metabolic crisis, metal retardation, SIDS, death Not all developmental delay/symptoms can be prevented, but with early treatment, affected children can reach their full potential Family Planning: Parents can be informed of diagnosis and management Family members can be counselled about their own risk (if any) and the risk for future children Resources and support groups for parents 18

19 NB screening in international context

20 Expanded NBS – 29 conditions
20 inborn errors of metabolism 3 hemoglobinopathies 2 endocrine disorders Congenital hypothyroidism Congenital adrenal hyperplasia 3 other metabolic disorders Cystic fibrosis Galactosemia Biotinidase deficiency Hearing loss Slide 4: Expanded 29 conditions Inborn errors of metabolism, also known as inherited metabolic diseases, comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to genetic defects in genes that code for enzymes which facilitate conversion of various substances into other products. In the majority of these disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Hemoglobinopathies refer to diseases resulting from genetic alterations in the amount of, and/or structure of the alpha and/or beta chain components of hemoglobin. The clinical picture of hemoglobinopathies varies; ranging from benign (carriers) to transfusion-dependent anemia or lethal in some cases. Endocrine disorders refer to diseases involving the production or metabolism of hormones. Other conditions: galactosemia, biotinidase deficiency, cystic fibrosis and hearing loss. Galactosemia and biotinidase deficiency are both metabolic disorders that are not amino acid, organic acid or fatty acid disorders. Hearing loss will not be discussed in this module. 20


22 Congenital Hypothyroidism

23 Magnitude of the problem
Population of India – 1.22 billion Birth rate – 22/1000 Annual birth- 26 million Children with hypothyroidism- 13,000

24 IMR (proportionate mortality)
INDIA USA NEONATAL 39.8 50.4 INFECTIOUS CAUSES 43.2 12.7 OTHERS 17.0 36.9 World Health Statistics In India neonates are not screened since the health policies have typically targeted mortality and infectious morbidity

25 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)

26 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

27 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

28 Universal Newborn Hearing Screening:  Summary of Evidence
JAMA. 2001;286(16):

29 Should be a legislatively mandated Universal 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

30 Newborn screening Should be a legislatively mandated
Universal public health program

31 Newborn Screening Advocacy Organizations (IAP,IMA)
Political Commitment Facility Building

32 NB screening Diseases PHASE 1 Congenital hypothyroidism Deafness
Regionalized screening (Sickle cell disease) CAH, Galactosemia, Biotinidase PHASE 3 Other IEMs Other Genetic disorder



35 Implementation

36 District Early Intervention Centre

37 Referral Centers Mapping to identify public health institutions through collaborative partners for provision of specialized tests and services. Multidisciplinary comprehensive management centers

38 Levels of Prevention Primary prevention = stop from occurring
Secondary prevention includes early detection and treatment Tertiary prevention = reduce consequences of existing health condition

39 Prevention Pre Conception Care Folic acid therapy
Rubella immunizations Proper nutrition Habit modifications Control of diabetes Avoid unnecessary medications Pre Conception Care


Download ppt "Early detection of Disability"

Similar presentations

Ads by Google