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1. UNIT THREE DEVIATION FROM NORMAL GROWTH AND DEVELOPMENT BY MAKAWA JOY 4 TH YEAR STUDENT UNZA

2. INTRODUCTION Genetic inheritance occurs due to genetic material, in the form of DNA, being passed from parents to their offspring. When organisms reproduce, all the information for growth, survival, and reproduction for the next generation is found in the DNA passed down from the parent generation. In sexual reproduction, the genetic material of two parents is combined and passed on to one individual. Although the offspring receives a combination of genetic material from two parents, certain genes from each parent will dominate the expression of different traits.

3. INTRODUCTION Congenital Abnormalities can be detected prenatally. More often they are detected only after the infant is born. Urgency of diagnosis and treatment depends upon degree of risk associated with the abnormality. Congenital anomalies may be induced by genetic or environmental factors. Most common congenital anomalies, however, show the family patterns expected of multifactorial inheritance. Gregor Mendel was a monk and scientist and he is commonly referred to as the father of modern genetics.

4. GENERAL OBJECTIVES By the end of lesson student should be able to acquire knowledge and understanding on genetic inheritance SPECIFIC OBJECTIVES By the end of the lecture/ discussion student nurses should be able to; Definition of terms discuss the patterns of inheritance State how to identification disabilities and consequences of late identification

5. DEFINITION Patterns of inheritance : • Its the manner in which a particular genetic trait or disorder is passed from one generation to the next . Each person has two copies of almost every gene, one copy from mom and one copy from dad Mutation- refer to changes in chromosomes and genes, which typically manifest physically.

6. DEFINITION Congenital Abnormality A congenital abnormality is any defect in form, structure or function (Bennett and Brown, 1999). A congenital anomaly is a structural abnormality of any type that is present at birth.

7. DEFINITION OF TERMS Genetic counseling : Advice to be given to members of a family regarding the susceptibility of them developing the disease Locus : The position of a gene on a chromosome. Allele : One of several alternative form of a gene at a given gene locus . Genotype : the gene types a person inherit

8. DEFINITION OF TERMS Heterozygous : having two different alleles at a given gene locus. Homozygous : having identical alleles at a given Phenotype : the physical (& behavioral) characteristics an individual displays

9. PATTERNS OF GENETIC INHERITANCE TYPES Autosomal dominant, A utosomal recessive, X-linked dominant, X-linked recessive, M itochondrial inheritance

10. PATTERNS OF GENETIC INHERITANCE Autosomal dominant Each affected person usually has an affected parent, occurs in every generation Both male and female are affected Mutation in only one allele is enough to express the disease Vertical transmission The offspring have 50% chance to have the disease Achondroplasia is an autosomal dominant genetic disorder that is a common cause of dwarfism

11. PATTERNS CONT….. Examples of disease: Achondroplasia, neurofibromatosis , Huntington's disease Huntington disease Gene in chromosome 4p Adult onset of the disease Choreic movement disorder Mood disturbance Progressive loss of mental activity

12. PATTERNS CONT….. Achondroplasia- dwarfism

13. PATTERNS CONT….. Punnett`s square W -Dominant allele(abnormal) w-recessive allele(normal) FATHER MOTHER w w W W w W w w ww ww

14. PATTERNS CONT….. 2. Autosomal recessive Both parents of an affected person are carries the abnormal gene ( Heterozygous). The disease is observed in only a single generation Both male and female are affected Examples: Cystic fibrosis, Sickle C ell A nemia, Galactosemia

15. PATTERNS CONT….. FATHER MOTHER a A A Aa AA a aa Aa

16. PATTERNS CONT….. Cystic fibrosis (CF) Gene localized at chromosome 7q Affected children have chronic respiratory infection, and malabsorption

17. PATTERNS CONT….. Galactosemia An infant is unable to metabolize galactose Damage of the liver, central nervous system and various other body systems An infant may develop jaundice , vomiting, lethargy , irritability and convulsions

18. PATTERNS CONT….. 3. X-linked dominant Mutations only in X chromosome Both males and females are affected Affected males transmit the disease to their daughters (male to female only) Affected females transmit the disease to daughters and sons Examples include: hypophatemic rickets

19. PATTERNS CONT….. 4. X-linked recessive Only males are affected and Transmission through unaffected females to male No male to male transmission Examples include: heamophilia A, Duchenne muscular hypertrophy Mutations only in X chromosome

20. PATTERNS CONT….. 5. Mitochondrial inheritance Can affect both male and females but only passed on by females because all mitochondria of all children come from the mother; can appear in every generation Examples include: lebers heredity optic neuropathy, Kearns- sayre syndrome

21. PATTERNS CONT….. Dominant mutations are expressed when only one copy of that mutation is present. Therefore anyone who inherits one dominant disease mutation such as the mutation of Huntington's disease will have the disease. Dominantly inherited genetic disease tend to occur in every generation of a family and each affected person has only one affected parent.

22. PATTERNS CONT….. Recessive mutation require tow mutated copies for disease to develop. Recessive genetic disease are typically not seen in every generation of an affected family The parents of the affected are often carriers: unaffected people who have a copy of mutated gene

23. IDENTIFICATION DISABILITIES Disability is the experience of any condition that makes it more difficult for a person to do certain activities or have equitable access within a given society .. Disabilities may be cognitive, developmental, intellectual, mental, physical, sensory, or a combination of multiple factors.

24. IDENTIFICATION DISABILITIES To identify disabilities, consider the following: A physical or mental impairment or medical condition that substantially limits a major life activity. A history or record of such an impairment or medical condition. Impairment in a person’s body structure or function, or mental functioning, such as loss of a limb, loss of vision or memory loss. Activity limitation, such as difficulty seeing, hearing, walking, or problem solving.

25. Identification of disabilities Some health conditions associated with disability may be detected during pregnancy where there is access to prenatal screening, while other impairments may be identified during or after birth. Screening or surveillance of children’s development may take place during visits to general child health-care or ECD services; there may be targeted early identification procedures in place, such as screening for visual and hearing impairments in health-care or education settings; and public health activities, such as immunization campaigns , may also provide opportunities for early identification.

26. Identification of disabilities Some families may also become concerned about their child’s development if there are delays in the achievement of key developmental milestones such as sitting, walking or talking.

27. Identification of disabilities Identifying disabilities is crucial for ensuring that individuals receive the appropriate support and accommodations. Here are some key points related to disability identification : Basic Identification of Households: This involves identifying households where persons with disabilities are likely to reside. It’s a foundational step to understand the prevalence and distribution of disabilities within a community or population.

28. Identification of disabilities Assessment for Official Disability Status: To grant official disability status, a formal assessment process is necessary. This assessment evaluates the individual’s impairments, functional limitations, and participation restrictions. It helps determine whether someone qualifies as having a disability according to established criteria.

29. Identification of disabilities Eligibility Determination for Specific Benefits: Once disability status is established, further assessment determines eligibility for specific benefits or services. This could include access to social protection programs, financial assistance, or accommodations. Human Rights-Based Model: Countries are increasingly adopting a human rights-based model for disability assessment and determination. Instead of focusing solely on an individual’s incapacity to work, this model considers environmental barriers and lack of support that prevent full participation on an equal basis with others

30. Advantages of early interventions Improve children’s developmental, social and educational gains Reduce feelings of isolation, stress and frustration that families may experience Help alleviate and reduce behavioural issues by using positive behavior strategies and interventions Help children with disabilities grow up to become productive, independent individuals Reduce the future costs of special education, rehabilitation and healthcare needs

31. Advantages of early interventions Many children with a disability can benefit from some type of early intervention or therapy. For example: Occupational therapy can help with fine motor skills, play and self-help skills like dressing and toilet training Physiotherapy can help with motor skills like balance, sitting, crawling and walking Speech therapy can help with speech, language, eating and drinking skills

32. Consequences of late identification of disabilities Late identification of congenital abnormalities has a wide of consequences, Depending on the severity of the condition as outlined below; Medical consequences Disease progression Some abnormalities worsen overtime if untreated for example congenital heart defects leading to heart failure.

33. Consequences of late identification of disabilities Reduced treatment options Certain corrective surgeries or therapies are most effective early in life. Developmental consequences Growth delays Chronic illness or poor organ function may stunt growth   Cognitive and learning difficulties Untreated congenital hypothyroidism can cause intellectual disability .

34. Consequences of late identification of disabilities Delayed motor and speech milestones Some physical deformities or neurological defects hinder normal development. Psychosocial consequences Increased emotional stress for a child and family due to sudden discovery and adjustment to the condition .

35. Consequences of late identification of disabilities Social stigma If the abnormality is visible and unaddressed. Public health impact Higher health care costs for advanced disease management. Reduced quality of life and productivity in adulthood