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