Genetics and Mental Health power point presentation

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1. Genetics and Mental Health Dr Allen Kuriakose Senior Resident Department of Community Medicine

2. Genetics

3. Introduction Classification of genetic disorders- a. Chromosomal abnormalities b. Unifactorial (single gene or Mendelian) diseases c. Multifactorial disorders

4. Population Genetics Population genetics has been defined as the study of the precise genetic composition of population and various factors determining the incidence of inherited traits in them. The Hardy-Weinberg law states that "the relative frequencies of each gene allele tends to remain constant from generation to generation" in the absence of forces that change the gene frequencies. Thus, the study of gene frequencies, and the influences which operate to alter the "gene pool" and their long-term consequences is the central theme in population genetics.

5. Population Genetics Factors which influence the gene frequencies- Mutation Natural selection Population movements Breeding structure Public health measures

6. Preventive and social measures Health promotional measures Specific protection Early diagnosis and treatment Rehabilitation

7. Health promotional measures Eugenics Euthenics Genetic counselling Others

8. Health promotional measures- EUGENICS Has both negative and positive aspects Negative eugenics : Hitler sought to improve the German race by killing the weak and defective; this was negative eugenics. On the other hand, if people who are suffering from serious hereditary diseases are sterilized or otherwise debarred from producing children, there should be no serious objection to marriage. The aim of negative eugenics is to reduce the frequency of hereditary disease and disability in the community to as low as possible. However, the question one would ask is

9. Health promotional measures- EUGENICS How far negative eugenic measures would be helpful in eliminating genetic defects? In spite of eugenic sterilization, new cases of hereditary diseases will continue to arise in the population partly because of fresh mutations, and partly because of marital alliances between hidden carriers (heterozygotes) of recessive defects. Nevertheless, it may be hoped that should eugenic measures be applied, hereditary diseases would become less frequent

10. Health promotional measures- EUGENICS Positive eugenics : It seeks to improve the genetic composition of the population by encouraging the carriers of desirable genotypes to assume the burden of parenthood. At present, positive eugenics has very little application. Its realization is difficult for 2 reasons ( i ) The majority of socially valuable traits are not inherited in such a simple way. (ii) Secondly, we cannot determine which gene we transmit to our children

11. Health promotional measures- EUTHENICS EUTHENICS : Mere improvement of the genotype is of no use unless the improved genotype is given access to a suitable environment, an environment which will enable the genes to express themselves readily. Throughout the course of history, man has been adapting environment to his genes more than adapting his genes to the environment. Studies with mentally retarded (mild) children indicated that exposure to environmental stimulation improved their IQ. Thus the solution of improving the human race does not lie in contrasting heredity and environment, but rather in the mutual interaction of heredity and environmental factors . This environmental manipulation is called euthenics and has considerable broader prospects for success.

12. Health promotional measures- genetic counselling Prospective genetic counselling : This approach requires identifying heterozygous individuals for any particular defect by screening procedures and explaining to them the risk of their having affected children if they marry another heterozygote for the same gene. In other words, if heterozygous marriage can be prevented or reduced, the prospects of giving birth to affected children will diminish. The application in this field, for example, are sickle cell anaemia and thalassemia.

13. Health promotional measures- genetic counselling Retrospective genetic counselling : Most genetic counselling is at present retrospective, i.e the hereditary disorder has already occurred within the family. A survey carried out by the WHO showed that genetic advice was chiefly sought in connection with congenital abnormalities, mental retardation , psychiatric illness and inborn errors of metabolism and only a few sought premarital advice. The WHO recommends the establishment of genetic counselling centres in sufficient numbers in regions where infectious disease and nutritional disorders have been brought under control.

14. Health promotional measures- genetic counselling Retrospective genetic counselling: The methods which could be suggested under retrospective genetic counselling are : (i) contraception (ii) pregnancy termination and (iii) sterilization Depending upon the attitudes and cultural environment of the couples involved

15. Health promotional measures-Others Consanguineous marriages : When blood relatives marry each other there is an increased risk in the offspring of traits controlled by recessive genes, and those determined by polygenes. Examples are albinism, alkaptonuria, phenylketonuria and several others. An increased risk of premature death is also noted in such offspring. Late marriages : The discovery of "Trisomy 21" in mongols coupled with the knowledge that mongolism is more frequent in children born of elderly mothers, lends support to the view that early marriage of females is better than late marriage from the point of view of preventing mongolism. Its incidence in a mother at age 20 is only 1 : 3000; by the age 40, it is 1:40.

16. Specific protection Increasing attention is now being paid to the protection of individuals and whole communities against mutagens such as X-rays and other ionizing radiations and also chemical mutagens. Patients undergoing X-ray examination should be protected against unnecessary exposure of the gonads to radiation. X-ray examination of the pregnant uterus to determine the presence of twins or the lie of the foetus is to be strongly deprecated. Rh haemolytic disease of the newborn which is a genetically determined immunological disorder is now preventable by immunization by anti-D globulin.

17. Early diagnosis and treatment Detection of genetic carriers : It is now possible to identify the healthy carriers of a number of genetic disorders, especially the inborn errors of metabolism. The female carriers of Duchenne type of muscular dystrophy, an X-linked disorder, can now be detected by elevated levels of serum creatine kinase in 80 per cent of carriers. In some conditions, carriers can be recognized with a high degree of certainty (e.g., acatalasia); in some only a proportion of carriers can be detected (e.g. , haemophilia,PKU, galactosaemia) in other conditions, no method has yet been found which will distinguish carriers(e .g., alkaptonuria)

18. Early diagnosis and treatment B) Prenatal diagnosis- Amniocentesis in early pregnancy(about 14- 16 weeks) has now made it possible for prenatal diagnosis of conditions associated with -chromosomal anomalies (e.g.Down's Syndrome) -many inborn errors of metabolism (e.g., Tay-Sach's disease, galactosaemia, Maple syrup urine disease, Alpha-thalassaemia and neural tube defects).

19. Indications for prenatal diagnosis Advanced maternal age, previous child with chromosome aberration. IUGR Biochemical disorders Congenital anomaly Screening for neural tube defects and trisomy Cytogenetics (amniocentesis, chorionic villus sampling) Protein assay, DNA diagnosis Sonography, foetoscopy Maternal serum alphafetoprotein and chorionicgonadotropin

20. Early diagnosis and treatment ( c) Screening of newborn infants : Neonates should be routinely examined for congenital abnormalities, particularly dislocation of the hip, which can be simply corrected at this stage. Biochemical screening of newborn infants was first used for PKU in 1966. Heel-prick blood samples are usually collected at 5-10 days after birth. Several drops of blood are collected on filter paper (the Guthrie card), which is sent to screening laboratory. Screening of newborns for congenital hypothyroidism is carried out in most developed countries. Sickle-cell disease can be detected cheaply and reliably by haemoglobin electrophoresis using Guthrie blood spots. Neonatal screening for cystic fibrosis is based on the measurement of immunoreactive trypsin in Guthrie blood spots.

21. Early diagnosis and treatment (d) Recognizing pre-clinical cases : Heterozygotes for phenylketonuria can be detected by a phenylalanine tolerance test. A simple urine examination for sugar after morning breakfast is good enough to detect diabetics. Examination of sibs and close relatives of diabetics by a glucose tolerance test will often reveal preclinical cases of acholuric jaundice. A raised serum uric acid should arouse suspicion of gout. Sickle cell trait can be uncovered by subjecting the red cells to reduced oxygen tension. Thalassemia minor can be detected by studying the blood picture.

22. Early diagnosis and treatment Once diagnosed, some of the genetic conditions can be treated with complete or partial success by medical and surgical measures. For example, diets low in phenylalanine are now prescribed as treatment for PKU children. Persons suffering from haemophilia can be greatly helped by administering antihaemolytic globulin , which promotes the clotting of blood. Modern surgical techniques have brought great improvements in dealing with cases of spina bifida.

23. MENTAL HEALTH

24. Mental health-definition "mental health is a state of well-being in which an individual realizes his or her own abilities, can cope with the normal stress of life, can work productively and is able to make a contribution to his or her community"

25. Warning signals of poor mental health

26. Mental Health Services Mental health services in a community are concerned not only with early diagnosis and treatment, but also with the preservation and promotion of good mental health and prevention of mental illness. The mental health services comprise: (1) Early diagnosis and treatment (2) Rehabilitation (3) Group and individual psychotherapy (4) Mental health education (5) Use of modern psychoactive drugs (6) After-care services.

27. National Mental Health Programme Launched during 1982 The aims of the NMHP are : (a) Prevention and treatment of mental and neurological disorders and their associated disabilities; (b) Use of mental health technology to improve general health services; and (c) Application of mental health principles in total national development to improve quality of life

28. National Mental Health Programme-Objectives 1. To ensure availability and accessibility of minimum mental health care for all in the foreseeable future , particularly to the most vulnerable and underprivileged sections of population. 2 . To encourage application of mental health knowledge in general health care and in the social development 3.To promote community participation in the mental health services development, and to stimulate efforts towards self-help in the community.

29. National Mental Health Programme-Strategies 1.Integration of mental health with primary health care through the NMHP: 2. Provision of tertiary care institutions for treatment of mental disorders 3. Eradicating stigmatization of mentally ill patients and protecting their rights through regulatory institutions like the Central Mental Health Authority, and State Mental Health Authority.

30. District Mental Health Programme Components are : (a) Training programmes of all workers in the mental health team at the identified nodal institute in the state (b) Public education in mental health to increase awareness and to reduce stigma (c) For early detection and treatment, the OPD and indoor services are provided (d) Providing valuable data and experience at the level of community to the state and centre for future planning, improvement in service and research.

31. District Mental Health Programme School mental health services : Life skills education in schools, counselling services. College counselling services : Through trained teachers/councellors. Work place stress management : Formal & Informal sectors, including farmers, women etc. Suicide prevention services : Counselling center at district level, sensitization workshops, lEC, help lines etc.

32. The Mental Healthcare Act, 2017 The Mental Healthcare Bill, 2013 was introduced in order to protect and promote the rights of persons with mental illness during the delivery of health care in institutions and in the community and to ensure health care, treatment and rehabilitation of persons with mental illness, is provided in the least restrictive environment possible. Suicide has been decriminalized under the Act The bill received assent of the Hon'ble President of India on 07.04.2017

33. National Tobacco Control Programme In order to facilitate the implementation of the Tobacco Control Laws, to bring about greater awareness about the harmful effects of tobacco, and to fulfill the obligations under the WHO-Framework convention on tobacco control , Govt. of India has launched a new National Tobacco Control Programme in the 11th Five Year Plan.

34. National Tobacco Control Programme-components 1.Public awareness/mass media campaigns for awareness building and for behavioural change 2. Establishment of tobacco product testing laboratories, to build regulatory capacity, as required under COTPA, 2003 3 . Mainstreaming the programme components as a part of the health delivery mechanism under the NRHM framework 4 . Mainstream research and training on alternate crops and livelihood, with other nodal ministries

35. National Tobacco Control Programme-components 5. Monitoring and evaluation, including surveillance, e.g. adult tobacco survey 6. Dedicated tobacco control cells for effective implementation and monitoring of anti-tobacco initiatives 7. Training of health and social workers, NGOs school teachers etc 8. School programme 9. Provision of tobacco cessation facilities.

36. TOBACCO CONTROL LEGISLATION-COTPA ACT 2003 "The Cigarettes and other Tobacco Products (Prohibition of Advertisement and Regulation of Trade and Commerce, Production, Supply and Distribution) Act, 2003" was passed by the parliament in April. 2003 The important provisons of the Act are: a. Prohibition of smoking in public places b. Prohibition of direct and indirect advertisement of cigarette and other products c. Prohibition of sale of cigarette and other tobacco products to a person below the age of 18 years

37. TOBACCO CONTROL LEGISLATION-COTPA ACT 2003 The important provisons of the Act are: d. Prohibition of sale of tobacco products near the educational institutions e. Mandatory depiction of statutory warnings (including pictorial warnings) on tobacco packs f. Mandatory depiction of tar and nicotine contents alongwith maximum permissible limits on tobacco packs