Genetic disorders

THIS PPT INCLUDES THE GENETIC DISORDERS SUCH AS, DOWNS SYNDROME, KLINFELTER SYNDROME, TURNERS SYNDROME, ETC. I TRIED TO PUT ALL INFORMATION IN THIS SLIDES. IF ANY SUGGESTION TO IMPROVE THIS PLESE SUGGEST ME IN SUGGESTION BOX. GIVE YOUR LIKES AND COMMENT.

1. By :- Mr. Abhijit P. Bhoyar M. Sc. Nursing GENETIC PEDIATRIC DISORDER

2. GENERAL OBJECTIVES :- At the end of the class student acquire in depth knowledge regarding pediatric genetic disorder and develop positive attitude and apply the knowledge in the clinical area .

3. SPECIFIC OBJECTIVES At the end of class student will be able to- Define the genetic disorder Classify genetic disorder Discuss about the chromosomal abnormalities Describe the x- linked disorder Explain the autosomal Recessive disorder Describe the autosomal Dominant disorder Explain the multifactorial disorders congenital malformation Write the mitochondrial diseases Enlist role of nurse in genetic pediatric disorder Explain the role of the nurse in genetic counseling

4. INTRODUCTION:- Genetics is the study of heredity and its variation. Many disorders of childhood have a genetic cause. According to the centers for Disease Control and Prevention , birth defects and genetic disorders are a significant cause of morbidity and mortality in infancy and childhood.

5. TERMINOLOGY- Genetics : - The study of heredity and its variation Chromosomes :- The structure containing DNA that store genetic information . There are 22 pairs of autosomes & one pair of sex chromosome in every cell. Gene carry information for making all the protein required by all organism Genome – the genome is the entire DNA in an organism including its gene. The human genome has 3 billion pairs of bases DNA - The language of nature universal molecules. DNA is made up of four similar chemicals called bases that is A,T,C,G A=Adenine ,T=Thymine , C=Cytosine , G=Guanine

6. DEFINITION OF GENETIC DISORDER Variation within the DNA sequence of a particular gene affect its function & may cause or predispose an individual a particular disease.

7. CLASSIFICATION OF GENETICS DISORDERS

8. Down’s syndrome is the commonest chromosomal disorder and most identifiable cause of mental retardation . Down’s Syndrome (Mongolism) A congenital condition characterized by a distinctive pattern of physical characteristics including a flattened skull, pronounced folds of skin in the inner corners of the eyes, large tongue, and short stature, and by some degree of limitation of intellectual ability and social and practical skills. It usually arises from a defect involving chromosome 21, usually an extra copy (trisomy-21)

9. Types

10. Clinical Manifestation Fattened occiput Small head Flat facial profile Depressed nasal bridge and small nose Oblique palpebral fissure Brush field spots Low set ears Abnormally shaped ears Small mouth Protrusion of tongue, tongue is larged compaired to mouth size.

11. Contiii . Hands with broad , short fingers A single deep transverse crease on the palm of the hand Congenital heart defect Short neck, with excessive skin at the nape. Hyper flexibility and looseness of joints Dysplastic middle phalanx of fifth finger Epicanthal folds Excessive space between large and second toe. Hypotonia

12. SIGNS AND SYMPTOMS

13. Diagnosis test Amniocentesis Chorionic villus sampling( cvs ), Percutaneous umbilical cord blood sampling(pubs)

14. Management There is no specific management Early childhood intervention, Screening for common problems, Medical treatment where indicated, Training for self care speech therapy Vocational training Special Education . Plastic surgery has sometimes been advocated and performed on children with Down syndrome, based on the assumption that surgery can reduce the facial features associated with Down syndrome,

15. Nursing management - Prenatal counseling Teach the parent about routine care, long term care Prevention of accidental injury. Preventing infections by frequent hand washing, Maintaining general cleanliness giving eye care and mouth care. Providing adequate nutrition by offering small frequent feeing and placing child in semi sitting position with elevation of head during feeding. Promoting socialization, instructing the parent to allow the child to perform normal life as possible with some restricted activities.

16. KLINEFELTER’S SYNDROME It is a condition in which a human has an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome . Because of the extra chromosome , individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males".

17. Clinical Manifestation Weaker muscles and reduced strength Taller, have longer arms and legs Less muscle control and coordination Less muscular body During puberty, the physical traits of the syndrome become more evident Broader hips Larger breasts, Weaker bones A lower energy level than other boys. Sterile, Shy and quiet Higher incidence of speech delay and dyslexia Less facial and body hair

18. Diagnostic evaluation History and physical examonation The main tests used to diagnose Klinefelter syndrome are: Hormone testing.  Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Chromosome analysis.  Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of chromosomes.

19. Management Treatment for Klinefelter syndrome is based on signs and symptoms and may include: Testosterone replacement therapy.  Starting at the time of the usual onset of puberty, testosterone replacement therapy can be given to help stimulate changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and sexual desire (libido). Testosterone replacement therapy can also improve bone density and reduce the risk of fractures, and it may improve mood and behavior. It will not improve infertility. Breast tissue removal.  In males who develop enlarged breasts, excess breast tissue can be removed by a plastic surgeon, leaving a more typical-looking chest.

20. Speech and physical therapy.  These treatments can help boys with Klinefelter syndrome who have problems with speech, language and muscle weakness. Educational evaluation and support.  Some boys with Klinefelter syndrome have trouble learning and socializing and can benefit from extra assistance. Talk to your child's teacher, school counselor or school nurse about what kind of support might help.

21. Fertility treatment.  Most men with Klinefelter syndrome are typically unable to father children because few or no sperm are produced in the testicles. For some men with minimal sperm production, a procedure called intracytoplasmic sperm injection (ICSI) may help. During ICSI, sperm is removed from the testicle with a biopsy needle and injected directly into the egg. Psychological counseling.  Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A family therapist, counselor or psychologist can help work through the emotional issues.

22. Complication Klinefelter syndrome may increase the risk of: Anxiety and depression Social, emotional and behavioral problems, such as low self-esteem, emotional immaturity and impulsiveness Infertility and problems with sexual function Weak bones (osteoporosis) Heart and blood vessel disease

23. Conti. Breast cancer and certain other cancers Lung disease Metabolic syndrome, which includes type 2 diabetes, high blood pressure (hypertension), and high cholesterol and triglycerides ( hyperlipidemia ) Autoimmune disorders such as lupus and rheumatoid arthritis Tooth and oral problems that make dental cavities more likely Autism spectrum disorder

24. PATAU SYNDROME Patau Syndrome , also called D-Syndrome or trisomy-13. Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.

25. Manifestations and physical findings Nervous system Mental and motor challenged Microcephaly Holoprosencephaly (failure of the forebrain to divide properly). Structural eye defects, including microphthalmia , Peters anomaly (a type of eye abnormality), cataract , iris and/or funds ( coloboma ), retinal dysplasia or retinal detachment , sensory nystagmus , cortical visual loss , and optic nerve hypoplasia Meningomyelocele (a spinal defect)

26. Conti- Musculoskeletal and cutaneous Polydactyly (extra digits) Low-set ears Prominent heel Deformed feet known as rocker-bottom feet Omphalocele ( abdominal defect) Abnormal palm pattern Overlapping of fingers over thumb Cutis aplasia (missing portion of the skin/hair) Cleft palate Urogenital Abnormal genitalia Kidney defects

27. PATUu SYNDROME

28. Treatment Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical , occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.

29. Nursing management Preventive aspect is most important. Parental counseling Teach the parent long term care prevention of accidental injury. Preventing infections by frequent hand washing, Intensive care- children with Patau syndrome die within the first year of life

30. EDWARDS’S SYNDROME Edwards syndrome (also known as Trisomy 18 ( T18 ) or Trisomy E ) is a genetic disorder caused by the presence of all or part of an extra 18 chromosomes. It is named after John Edwards, who first described the syndrome in 1960. It is the second most common autosomal triosmy , after Down syndrome, that carries to term.

31. Signs and symptoms Small head ( microcephaly ), Prominent back portion of the head , Low-set malformed ears; Abnormally small jaw, Cleft lip cleft palate. Upturned nose; Narrow eyelid folds); Widely spaced eyes; Drooping of the upper eyelids ( ptosis ) A short breast bone; Clenched hands and overlapping fingers. Choroid plexus cysts; Underdeveloped thumbs or nails, Webbing of the second and third toes; Webbing

32. Conti. Club foot, Undescended testies kidney malformations-horse shoe kidney, Structural heart defects at birth Intestines protruding outside the body ( omphalocele ), Esophageal atresia , Mental retardation, Developmental delays, Feeding difficulties , Breathing difficulties Arthrogryposis (a muscle disorder that causes multiple joint contractures at birth). Symptoms include motor retardation, developmental disability and. Ninety percent of those affected die in infancy. Growth deficiency

33. EDWARDs SYNDROME

34. Turners Syndrome:- It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Normal females have two X chromosomes, but in turner syndrome, one of those sex chromosomes is missing or has other abnormalities.

35. TURNER SYNDROME- CLINICAL FEATURE

36. Treatment Growth hormone , either alone or with a low dose of androgen , will increase growth and probably final adult height. Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are crucial for maintaining good bone integrity and tissue health. Women with Turner Syndrome who do not have spontaneous puberty and who are not treated with estrogen are at high risk for osteoporosis .

37. CRI DU CHAT It is caused by the deletion of part of the short arm of chromosome 5. "Cri du chat" means "cry of the cat" in french ; the condition was so-named because affected babies make high-pitched cries that sound like those of a cat. Affected individuals have wide-set eyes, a small head and jaw, moderate to severe mental health issues, and are very short.

38. Fragile X Syndrome The Fragile X Syndrome is thought to be the most common inherited cause of MR after down syndrome. The syndrome is caused by an abnormal gene on the lower end of the long arm of the x chromosome. Chromosomal analysis demonstrates a fragile site in some cells of all affected males & in most carrier females.

39. HEMOPHILIA Hemophilia is inherited abnormality of blood coagulation characterized by a tendency of hemorrhage from a trauma. It is due to deficiency of plasma factor (anti hemophilic globulin)VIII, of Factor IX (Christmas disease) and of factor XI.

40. PSEUDO HYPOPARATHYROIDISM In pseudohypoparathyroidism , production of PTH(Para hormone) is increased . It may occur due to failure of end organ response in which hormones secretion is good but the patients are found mentally retarded with poor bony development & short fingers & toes.

41. PSEUDOHYPERTROPHIC MUSCULAR DYSTROPHY (Duchene & Becker Type)- It is most common type of muscular dystrophy in children. Commonly found in 3-5 years of age. It is genetic disorders with X- linked recessive inheritance & primarily affects the males. The pelvic girdle is affected first & gradually weakness spreads to shoulder girdle.

42. ALBINISSM Albinism is an inborn error of metabolism, characterized by poor or nil pigmentation of the skin & hair . In total albinism , iris is pink or bluish & pupils are red. Photophobia , nystagmus & refractive errors are common No specific treatment is available for this condition .  

43. CRETINISM (Congenital Hypothyroidism ) The most common type of hypothyroid state seen in pediatric practice throughout the world is due to absence of thyroid gland. A condition characterized by physical deformity and learning difficulties that is caused by congenital thyroid deficiency

44. CYSTIC FIBROSIS Cystic fibrosis is inherited as an autosomal recessive trait, the affected child inherits the defective gene from both parents. The mutated gene for CF is located on the long arm of chromosome 7.

45. GALACTOSEMIA Galactosemia is a rare autosomal –recessive disorders , It involves an inborn error of carbohydrate metabolism in which the hepatic enzyme galactose I-phosphate uridyltransferse is absent

46. CONGENITAL ADRENAL HPERPLASIA Congenital adrenal hyperplasia is a group of inherited disorders marked by congenital deficiency or absence of one or more enzymes essential for the production of adrenal cortical hormones. It is inherited as an autosomal recessive disorder.

47. OSTEOGENESIS IMPERFECTA (Fragilities’ osmium) :- It is a hereditary osteoporotic syndromes , characterized by multiple fractures due to osteoporosis & excessive bone fragility.   Feature :- Skeletal deformities Blue sclera Congenital deafness Lax ligaments

48. RETINOBLASTOMA Retinoblastoma is a malignant glioma of the retina. It may be unilateral (70%). About 90% cases are found in less than 5 years of age. It is rare tumor, though the commonest ocular neoplasm of childhood. It usually develops in the posterior portion of retina.

49. SICKLE CELL DISEASE Sickle cell disease is an autosomal recessive disorder in which an abnormal hemoglobin causes chronic hemolytic anemia , with a variety of severe clinical consequences.

50. Tay -Sachs disease Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy.

51. THALASSEMIA (COLLEY’S ANAEMIA) Thalassemia is chronic congenital hemolytic anemia in which red blood cells have abnormal hemoglobin .

52. Niemann –Pick disease This is another rare disease , a lipidosis inherited as an autosomal recessive character , in which an enzyme sphingomyelinase , is absent. This results in accumulation of sphingomyelin in various tissues & organs.

53. Achondroplasia (dwarfism Achondroplasia , an autosomal dominant disorder, is characterized by severe short stature ,short trunk & extremities with dominant shortening of the proximal segment .

54. Huntington’s Disease HD is passed from one generation to the next because of an alteration in one of the many genes each of us inherits from our parents. The gene that causes HD is called an autosomal dominant gene.

55. Marfan syndrome It is characterized by arachnodactyly ( abnormally long limbs , fingers , & toes) subluxation of the lens , hypotonia & hyperextensible patient to close his fist & try to enclose the thumb within it .

56. Neurofibromatosis Another autosomal dominant neurocutaneous disorder , is characterized by café-au- lait spots (irregular hyperpigmented areas more than 6 spots each measuring at least 1.5cm.) & speckled hyper pigmentation & later in childhood , neurofibromas involving skin, subcutaneous tissue , oral mucosa , musculoskeletal system ,GIT, eyes ,CNS leading to a variety of manifestation.

57. SPHEROCYTOSIS:- It is inherited chronic hemolytic disease with autosomal dominant inheritance . The basic defect is the deficiency of spectrin & ankyrin , red cell stromal proteins which maintain stability of the erythrocyte membrane shape.

58. Pituitary Diabetes Insipidus Diabetes Insipidus , is the disorders of the posterior pituitary gland due to a deficiency of antidiuretic hormone (ADH) . It is characterized by failure of the body to conserve water due to deficiency of ADH, decreased renal sensitivity to ADH or suppression of ADH secondary to excessive ingestion of fluid ,i.e. primary polydepsia.

59. CLEFT LIP & CLEFT PALATE Cleft Lip:- It results from failure of the maxillary process to fuse with the maxillary processes to fuse with the nasal elevations on the frontal prominence. This defect varies from a notch in the lip to complete separation of the lip may be unilateral or bilateral.

60. Cleft palate :- This results from failure of the fusion of secondary palate with each other & with primary palate. It can be unilateral or Bilateral. Cleft lip & cleft palate :- The condition results from a combined defect.

61. Causes :- Genetic or unfavorable maternal factors ( viral infection during 5 th to 12 th week of gestation) Ingestion of drugs Exposure to X-ray Anaemia Hypoprotenemia

62. Risk factors Several factors may increase the likelihood of a baby developing a cleft lip and cleft palate, including: Family history.  Parents with a family history of cleft lip or cleft palate face a higher risk of having a baby with a cleft. Exposure to certain substances during pregnancy.  Cleft lip and cleft palate may be more likely to occur in pregnant women who smoke cigarettes, drink alcohol or take certain medications .

63. Having diabetes.  There is some evidence that women diagnosed with diabetes before pregnancy may have an increased risk of having a baby with a cleft lip with or without a cleft palate. Being obese during pregnancy.  There is some evidence that babies born to obese women may have increased risk of cleft lip and palate. Males are more likely to have a cleft lip with or without cleft palate. Cleft palate without cleft lip is more common in females. 

64. Symptoms Usually, a split (cleft) in the lip or palate is immediately identifiable at birth. Cleft lip and cleft palate may appear as: A split in the lip and roof of the mouth (palate) that affects one or both sides of the face A split in the lip that appears as only a small notch in the lip or extends from the lip through the upper gum and palate into the bottom of the nose A split in the roof of the mouth that doesn't affect the appearance of the face

65. Signs and symptoms of submucous cleft palate may include: Difficulty with feedings Difficulty swallowing, with potential for liquids or foods to come out the nose Nasal speaking voice Chronic ear infections

66. Investigation History and physical examination USG- A prenatal ultrasound is a test that uses sound waves to create pictures of the developing fetus. When analyzing the pictures, a doctor may detect a difference in the facial structures.

67. Complication:- Immediate problem:- Feeding problem due to ineffective sucking resulting in under nutrition. Aspiration of feeds resulting respiratory function. Parental anxiety due to defective appearance of the infant.

68. Long term Problems Recurrent infections especially otitis media Disturbed parent-child relationship & maladjustment with nonacceptance to the infant. Impaired of speech Misplacement of teeth Hearing problem due to oral malformation especially in cleft palate Impaired body image due to altered shape of face & oral cavity

69. Surgical Management :- In cleft lip :- Surgical repair of the defect of the lip is done, preferably at 2to3 months of age, when the infant is having good health. The operation is termed of as cheiloplasty. In cleft palate :- Palotoplasty , the surgical reconstruction of the palate is done with repair of the cleft, at about age of 1to 2 years of age. It should be done before the child develops defective speech. Cleft lip repair — within the first 3 to 6 months of age Cleft palate repair — by the age of 12 months, or earlier if possible Follow-up surgeries — between age 2 and late teen years

70. Nursing Management:- At Birth:- Soon after birth, the baby may look unattractive but the nurse should be show her reactions. The disfiguring defect may cause negative reaction & shock in the parents . The nurse should explain the positive aspects about the correction of defects .

71. Feeding: - The main immediate nursing problem is feeding . This defect reduces the ability of the infant to suck. While feeding, the infant should be in upright position. A special ‘cleft palate nipple’ When the infant has problem to take feed with the nipple , syringe with rubber tube may be used.

72. Pre-Operative Care:- Explain about the proper breast milk feeding or preparation of formula to help in weight gain. Encourage the infant to lie on his back to practice for postoperative essential positioning especially with arm restraints. Provide love & affection Instruction to give last pre-operative feeding 6 hours before surgery.

73. Post operative care:- Check vital signs & provide general postoperative care. Position on back or side for repaired cleft lip. Prevention of infection to the suture line is done by cleaning the sutured area after feeding , gently with asepsis, & avoiding contamination. Prevention of injury should be done by preventing any object placing in the mouth.

74. Love, affection & security can be provided by holding & cradling the baby by the mother. Health teaching to the parents:- Explain general care of the baby. Demonstrate the technique of feeding Refer the genetic counseling if they need help. Explain about follow up.

75. DIABETES MELLITUS- Diabetes Mellitus is commonest endocrine metabolic disorder of childhood & adolescence with long term effects on child’s physical & psychological growth & development . Congenital heart defects- Congenital heart disease is the structural malformation of the heart or great vessels, present at birth. It is the most common congenital malformation.

76. NEURAL TUBE DEFECT (MYELODYSPLASIA , DYSRAPHISM) Neural tube defects are the congenital malformation of the CNS resulting from a defective closure of the neural tube during early embryogenesis between 3 rd &4 th week of intrauterine life. It involves the defects in the skull , vertebral column , the spinal cord & other portion of CNS.

77. Types Of Neural Tube Defect :- Spina bifida Meningomyelocele Anencephaly Meningocele Spina bifida occulta Encephalocele

78. 1. Spina Bifida Spina Bifida:- It is the congenital defect of the spinal column due to failure of the fusion of the vertebral arches with or without protrusion of the meninges & dysplasia of the spinal cord. It is the malformation of the spine in which the posterior portion of the lamina of the vertebra fails to close .

79. A. Spina Bifida Occulta Spina Bifida Occulta :- It is most frequent & most benign neural tube defect. There is defective closure of the posterior arch & laminae of the vertebrae , usually L5 &S1 . There is no protrusion of the meninges. But the dysplasia of the spinal cord is a prominent feature .

80. Clinical feature P resent after 6to8 years of age – (a) Progressive deformity of the foot (b) Phanges in micturation pattern (c) A lteration in the gait ( d) Trophic ulcers on the toes & feet. Surgical correction :- Laminectomy is done & the intraspinal lesion excised.

81. B.Meningocele :- Meningocele :- It is hernia protrusion of the meninges through a midline defect in the posterior vertebral arch. It forms a fluctuating cystic swelling filled with CSF and covered by a thin transparent membrane or with skin.

82. It transluminate easily . It is generally found in the lower back, i.e. lumbosacral region. It may also be found in the thoracic region and in the skull. The spinal cord and nerve roots are usually normal. Surgical closure of the sac should be done as early as possible to prevent infections .

83. 2.Meningomyelocele It is a midline cystic sac of meninges with spinal tissue & CSF, which herniates through a defect in the posterior vertebral arch. It is the one of the commonest lesion & can be present anywhere on the midline in the back ,but lumbosacral is the most commonest type.

84. Clinical Feature :- Spasticity & hyperactive reflexes may present in thoracic or cervical myelomeningocele . Flaccid paralysis , Absence of sensation , Postural abnormalities like club foot. Hydrocephalus In older children contracture of joints , Scoliosis & kyphosis may develop. Management :- Surgical correction of defect & supportive care.

85. 3.Anencephaly: - Anencephaly: - Anencephaly is a congenital absence of cranial vault with the cerebral hemisphere completely missing or reduced to small masses. Various congenital anomalies can be associated with this condition like congenital heart disease ,cleft palate etc. Death usually occurs with a week or two of birth.

86. 4.Encephalocele It is a sac like protrusion of meninges with brain substance herniating through a congenital bony defect in the skull. It is commonly found in the midline and in the occipital or parietal area. It may also found on frontal bone, in the orbital or in the nose.

87. The child may develop Hydrocephalus , Visual problem , Seizures , Microcephaly Mental retardation. Associated congenital anomalies present i.E. Cleft lip & palate , Abnormal genitalia , Congenital nephrosis etc. Management :- surgical correction Of defect & supportive care.

88. MENTAL RETARDATION Mental retardation refers to the most severe general lack of cognitive & problem solving skills. It is also known as cognitive developmental delay . Classification:- MR is classified depending upon IQ level . Mild MR- IQ level 51-70 Moderate MR-IQ level36-50 Severe MR- IQ level 21-35 Profound MR- IQ level below 20

89. Etiology :- Genetic Syndrome – eg . Down’s syndrome Congenital anomalies – eg . Hydrocephalus Intrauterine influences- eg . eclampsia Perinatal conditions- eg . Birth trauma Postnatal conditions – eg . CNS infection Environmental & sociocultural factors- eg . Broken family, child abuse etc .

90. Clinical Manifestation :- In Infancy - Poor feeding Weak sucking Poor weight gain Reduced spontaneous activity Delayed head & trunk control Hypotonia Poor mother child interaction   In Toddler- Delayed speech & language disabilities, Delayed motor milestones Failure to achieve independence (self feeding, dressing) Short attention span Hyperactivity Poor memory ,poor concentration Emotional instability , sleep problem

91. PREVENTIVE MANAGEMENT:- Genetic counseling Good obstetrical care Essential neonatal care Prevention of management of low birth weight, preterm delivery Neonatal assessment & screening of metabolic disorders or other congenital anomalies should be done in suspected cases .

92. NURSES ROLE & RESPONSIBILITIES OF GENETIC PEDIATRIC DISORDER:- 1)Pediatric nurses will encounter children with genetic disorders in every clinical specialty area. This includes clinics, hospitals, schools & community based centers. 2)Talking with families who have recently been diagnosed with a genetic disorder or who had a child born with congenital anomalies is very difficult. 3)Many times the nurse is the one who has first contact with these parents & will be the one to provide follow up care .

93. 4)Refer the parent & motivate the parent for genetic counseling. 5)Nurse plays an essential role in providing emotional support to the family throughout this challenging time. 6)Nurses should also refer the family to appropriate agencies , support groups & resources

94. ROLE OF THE NURSE IN GENETIC COUNSELLING :- Collection of details history ,especially history of prenatal , natal & postnatal period along with history of family illness. Preparation of pedigree chart by interview &home visit. Identification of present problems, its nature & severity , for necessary interventions. Participation in diagnostic investigation , treatment ,follow-up & research project. Provide necessary information to the parents & family members. Motivate the family members for genetic counseling & referring to the genetic clinic

95. Participating in genetic counseling process with special training , personal experience , knowledge & competency. Provide emotional support & answer questions asked by the counselee. Guide the family for rehabilitation of the child & for available social & economical support through social welfare agencies. Promote public awareness about the prevention of congenital anomalies by individual or group health education or by mass media information .

96. BIBLIOGRAPHY 1) Terri Kyle ,Essentials of pediatric nursing,1 ST edition, published by wolters kluwer pvt.ltd. new delhi , page no-1009-1044. 2) Assuma Beevi . T.M, Textbook of pediatric nursing,,1 ST edition, published by Elseiver pvt , ltd. Noida , 3) Parul dutta , pediatric nursing,3 RD edition, jaypee publication, page no. 4) Marlow R.D. “Textbook of pediatric Nursing” 6 TH edition ,W.B. Saunders company, 5) Wong L.D. Hockenberry J.M. “Nursing care of infants & children” 7 TH edition., Philadelphia, 6) www.com.goole 7) Manoj Yadav , A Textbook of child health nursing ,pee vee publication , 1 st edition . 8) Piyush Gupta, Essential Pediatric Nursing, 3 rd edition ,CBS publication

97. THANK YOU FOR MY CARE