Presentation on theme: "Early detection of Disability"— Presentation transcript:
1Early detection of Disability Dr Sankar VHMD (Paed) DM (Medical genetics)Additional Professor & GeneticistSAT Hospital
2What 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 defectsAutismADHDLearning disabilityOrthopedic deformity
3Disability 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 activitythe inability to read or move around;a restriction in participationexclusion from school.
5Children with Disabilities Children with disabilities include those with health conditionsCerebral palsySpina bifidaMuscular dystrophyTraumatic spinal cord injuryDown syndromeChildren with hearing and visual defectsIntellectual impairments.
8Burden of the problem5.1% of World population 0-14 years had moderate to severe disability and 0.7% experiences severe disabilityINCLEAN study on disability identified 10 common disability in children (in India)
9Early 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.
10Early detection and intervention Early detection of disability will be the hallmark in reducing the high incidence of disabled childrenA number of these disorders are preventableSubstantial proportion can be suitably rehabilitated
11Early 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.
12Early InterventionEarly Detection and Early Intervention will minimize and/or prevent the consequences of an impairment, ultimately preventing the impairment from becoming a disability.
13Disability 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.
14Early detection and intervention Early detection and early interventionSystem to check young children for signs of disabilityWorking with young children who are slow in development or have impairmentsEducating and teaching familiesPrevent disabilities in babies and young children14
15CBR guidelines: Early detection and Early intervention
16Infant stimulation programme CDC Model Practical mother oriented stimulation programmeObjectives of early stimulation areStimulating 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
17What 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
18Benefits of NBS Identification Early intervention Reduced morbidity & mortalityFamily planningSlide 5: Benefits of NBSIdentificationEarly intervention:Start treatment before symptoms presentDiagnosis while newborn is in crisis – earlier, targeted treatmentReduction in unnecessary investigationsCost-savingReduced morbidity and mortality:Prevent metabolic crisis, metal retardation, SIDS, deathNot all developmental delay/symptoms can be prevented, but with early treatment, affected children can reach their full potentialFamily Planning:Parents can be informed of diagnosis and managementFamily members can be counselled about their own risk (if any) and the risk for future childrenResources and support groups for parents18
20Expanded NBS – 29 conditions 20 inborn errors of metabolism3 hemoglobinopathies2 endocrine disordersCongenital hypothyroidismCongenital adrenal hyperplasia3 other metabolic disordersCystic fibrosisGalactosemiaBiotinidase deficiencyHearing lossSlide 4: Expanded 29 conditionsInborn 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
23Magnitude of the problem Population of India – 1.22 billionBirth rate – 22/1000Annual birth- 26 millionChildren with hypothyroidism- 13,000
24IMR (proportionate mortality) INDIAUSANEONATAL39.850.4INFECTIOUS CAUSES43.212.7OTHERS17.036.9World Health StatisticsIn India neonates are not screenedsince the health policieshave typically targeted mortalityand infectious morbidity
25Epidemiological Transition India is currently undergoing an epidemiological transitionCongenital malformations and genetic disorders are gradually replacing infectious causes as the major cause of perinatal and neonatal mortality and morbidityPresently they constitute the second commonest cause (9.2%) of neonatal morbidity in urban areas ( NNF Data)
26ICMR 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
27NB 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 physicianConfirmation & management
28Universal Newborn Hearing Screening: Summary of Evidence JAMA. 2001;286(16):
29Should be a legislatively mandated Universal public health program Successful NB screening program requiresA suitable testLaboratory quality standardsAvailability to allEffective follow-upRapid access to treatmentShould be a legislatively mandated Universal public health program
30Newborn screening Should be a legislatively mandated Universal public health program
31Newborn Screening Advocacy Organizations (IAP,IMA) Political CommitmentFacility Building