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Understanding Genetic Defects in Child Development

Genetic disorders are caused by gene mutations or abnormal chromosome numbers. Explore the impacts of common genetic defects like Down syndrome, Achondroplasia, PKU, and Fragile X syndrome on physical and cognitive development.

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Understanding Genetic Defects in Child Development

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  1. GROUP MEMBER • KAMILAH SYAKURA BT.KAMIN • NOR ARTISHAM BT.CHE GHANI • MAZLIANA BT.MOHD DOM

  2. Present to you;Genetic defectsThe causes and their impact on the child’s development

  3. Genetic Defects • Genetics disorder/genetics disease is a disease caused by abnormal expression of one/more genes in a person causing a clinical phenotype. • Every person has 30,000 to 35,000 genes • Half of a baby’s genes come from each parent

  4. Possible Causes • Caused by a mutation in a gene. A number of genetic disorder are due to the change of a single gene, resulting in an enzyme/other protein not being produced/having altered functionality. • Genetic disorders may also be complex, multifactorial/polygenic. They are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors

  5. Possible Causes • Abnormal chromosome number, which results from an error that occurred when the egg/sperm cell were developing. The most common chromosome defect results in Down Syndrome.

  6. Possible Causes • Chromosomes are the spaghetti-like structures in a cell that contain DNA. DNA is the gene material which directs cell function and is handed on from parent to offspring as genes.

  7. Possible Causes • Triplet expansion repeat mutations can cause Fragile X Syndrome/Huntington’s disease. • The effects of radiation from the atomic bombs. • The mother’s emotions such as fear, anger, love and hope among others can biochemically alter the genetic expression of the offspring.

  8. Possible Causes • Poor nutrition during early pregnancy.

  9. Possible Causes • Medicines, pesticides, chemicals and poisons. • Marrying close relatives. • Children born to mothers 40 years of age or older.

  10. Possible Causes • Inherited from parents. It is known as a hereditary disease. Happen unexpectedly when two healthy carriers of a defective recessive gene reproduce. Also can happen when the defective gene is dominant.

  11. IMPACT OF GENETIC DEFECT TO CHILD DEVELOPMENT PHYSICAL IMPACT OTHERS RELATED IMPACT The child The family

  12. PHYSICAL IMPACT • Down syndrome: • Born with an extra (third) copy of chromosome number 21 in their cells. • Have mental retardation and distinctive facial and other physical features; often accompanied by heart defects and other health problems. • Common birth defect, affecting between one in 800 and one in 1,000 births. • Increase dramatically with the age of the mother; a woman who's 35 has a one in 350 chance of having a baby with Down syndrome, and a woman who's 45 has a one in 30 chance.

  13. NO CURE for Down Syndrome

  14. Achondroplasia: • A genetic disorder of bone growth that is evident at birth. • Common birth defect. It affects about 1 in 26,000 to 1 in 40,000 births (1, 2), and it occurs in all races and in both sexes. • One of the oldest recorded birth defects (since ancient Egyptian).

  15. How they look like: • The upper arms and thighs are more shortened than the forearms and lower legs. Hands are short with stubby fingers. There is a separation between the middle and ring fingers (trident hand). • Generally, the head is large, the forehead is prominent and the nose is flat at the bridge.

  16. Phenylketonuria (PKU): • A disease that affects the way the body processes protein; it can cause mental retardation . • A baby born with PKU appears normal, but if the disease isn't treated, the child will suffer from developmental delays that are apparent by the time she's a year old. • A genetic disorder; if both parents carry the gene, there's a one in four chance a child will be born with it . • Fortunately, it is usually detected within a few days after birth and with a special diet, retardation can be prevented.

  17. Fragile X syndrome: • characterized by mental impairment, ranging from learning disabilities to mental retardation, autistic behaviors, and attentional problems and hyperactivity. • Physical characteristics: long face, large ears, flat feet, and extremely flexible joints, especially fingers. • Boys are affected more often than girls, and are more likely to have mental retardation rather than milder learning impairment but both are likely to have emotional and behavioral problems.

  18. A genetic disorder that's passed on by men who carry the abnormality to all of their daughters but none of their sons. Each child of a carrier woman has a 50% chance of inheriting the genetic abnormality. • This means that the Fragile X can be passed through generations in a family before a child is affected by the syndrome. There is no cure for Fragile X, although researchers are exploring ways to prevent it through gene therapy.

  19. Other diseases: • Muscular dystrophy: include 40 different types of muscle diseases, all of which involve progressive weakness and degeneration of the muscles that control movement. • Sickle cell anemia: a disorder of the red blood cells in which an abnormal shape of the cells results in chronic anemia (low blood count), periodic episodes of pain, and other health problems. • Tay-Sachs:affects the central nervous system, causing blindness, dementia, paralysis, seizures, and deafness; it's usually fatal within the first few years of life.

  20. OTHERS RELATED IMPACT • Psychological, medical, social and economic consequences of genetic disease. • The Child: • Psychological: lack of self confident. • Social: avoided by family and friends. • Medical: highly expose to other side diseases. • The Parents and Family: • Psychological:anger, shock, denial, grief, depression, confusion, and guilt. • Economic: Treatment and care can be expensive. • Social: avoided by other relatives and friends.

  21. GENETIC DEFECTS FROM ISLAMIC PERSPECTIVES

  22. God has created man in the best form and elevated him above all other creatures. (Al-Isra 17:70) “We have honored the sons of Adam; provided them with transport on land and sea; given them for sustenance things good and pure; and conferred on them special favors above a great part of Our Creation.”

  23. Islam is a religion of knowledge and science. (Al-Zumour 39:9) “ Is one who worships devoutly during the hours of the night prostrating himself or standing (in adoration) who takes heed of the Hereafter and who places his hope in the Mercy of his Lord (like one who does not)? Say: "Are those equal those who know and those who do not know? It is those who are endued with understanding that receive admonition."

  24. Islam recommends the safe-guarding of human health. (Al-Baqarah 2:195) “And spend of your substance in the cause of Allah and make not your own hands contribute to your destruction but do good; for Allah loveth those who do good.”

  25. Inter-marriage between close relatives - permissible in Islam but higher risk of physical defects.

  26. Every man, regardless of his genetic features, has the right to have his dignity and rights respected.

  27. The reading of the human gene is part of human’s endeavour to understand himself and appreciate God’s Powers of creation. (Al-Fussilat 41:53) “Soon will We show them Our Signs in the (furthest) regions (of the earth) and in their own souls until it becomes manifest to them that this is the Truth. Is it not enough that thy Lord doth witness all things?”

  28. PREVENTION

  29. Genetic Counselling • To provide knowledge and information available in medical and health institutions as well as through the mass media. • To provide public awareness

  30. Other Precautions • Eat well during pregnancy • Avoid all medicines during pregnancy unless asked by doctors • Consider not having more children after age 35 or 40, or if you have had one child with Down Syndromes

  31. Handling Genetic & Birth Defects • Acknowledge your emotions • Seek support • Celebrate your child • Seek information • Seek early intervention

  32. CONCLUSION • A study of genetic diseases is a large scientific discipline and it is hoped that number of genetic defects will decrease, mainly through preventive methods.

  33. What do you think? Choose between these 2 claims and give the reason: • Claim 1: Physiological and behavioral expressions are determined once the genes of the sperm and egg come together at the moment of conception. • Claim 2: Organism expression is dynamically and intertwined with environmental cues. Genes in the nucleus do indeed represent blueprints for proteins, the molecules responsible for physical traits and the mechanics underlying behavior.

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