Early detection of Disability

Dr Sankar VHMD (Paed) DM (Medical genetics)Additional Professor & Geneticist

SAT Hospital

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

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.

Disability

Children with DisabilitiesChildren with disabilities include those with

health conditions Cerebral palsySpina bifidaMuscular dystrophyTraumatic spinal cord injuryDown syndromeChildren with hearing and visual defectsIntellectual impairments.

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)

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.

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 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.

Early InterventionEarly 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 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

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CBR guidelines: Early detection and Early intervention

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

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

Benefits of NBS

Identification Early interventionReduced morbidity & mortality

Family planning

NB screening in international context

Expanded NBS – 29 conditions20 inborn errors of metabolism3 hemoglobinopathies2 endocrine disorders

Congenital hypothyroidismCongenital adrenal hyperplasia

3 other metabolic disordersCystic fibrosisGalactosemiaBiotinidase deficiency

Hearing loss

Congenital Hypothyroidism

Magnitude of the problem

Population of India – 1.22 billionBirth rate – 22/1000Annual birth- 26 millionChildren with hypothyroidism- 13,000

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

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)

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

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

Universal Newborn Hearing Screening:  Summary of EvidenceJAMA. 2001;286(16):2000-2010.

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

Newborn screening Should be a legislatively mandated Universal public health

program

Newborn Screening

NB screening Diseases

Implementation

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

PreventionFolic acid therapyRubella immunizationsProper nutritionHabit modificationsControl of diabetesAvoid unnecessary medications

Pre Conception

Care