1. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Unit III Genetic/Developmental, Childhood, and Mental Health Diseases and Disorders

2. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Chapter 19 Genetic and Developmental Diseases and Disorders

3. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Anatomy and Physiology Cell nucleus –46 chromosomes –23 pairs Most somatic cells have ability to reproduce through mitosis Chromosomes made of units of deoxyribonucleic acid (DNA)

4. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Anatomy and Physiology Approximately 2 percent of newborns born with congenital anomalies Causes: –20 percent genetic –10 percent chromosomal –10 percent environmental –60 percent unknown

5. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Diagnostic Tests Fetal ultrasound –Detects malformations Amniotic fluid –Reveals genetic and chromosomal disorders Maternal blood –Reveals abnormal fetal substances

6. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Musculoskeletal Muscular dystrophy (MD) –Genetic degeneration of muscles –Duchenne’s MD Most common type –Onset between two and five years of age

7. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Musculoskeletal MD –Treatment: Physical therapy Orthopedic devices Exercise –No cure

8. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Musculoskeletal Congenital hip dislocation (CHD) –Abnormal hip joint resulting in femoral head slipping out of normal position –Symptoms: Infant exhibits asymmetrical folds of affected thigh Difference in leg length Limited abduction

9. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Musculoskeletal CHD –Treatment: Closed reduction Maintenance of normal position by use of splint or cast for two to three months Surgery in older children

10. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Musculoskeletal Clubfoot –Also known as talipes equinovarus –Congenital abnormality of foot –Foot or feet turn inward with toes pointed downward and heel drawn upward –Treatment: Cast Splints

11. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Musculoskeletal Osteogenesis imperfecta –Inherited condition of abnormally brittle bones leading to fractures –No cure

12. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Neurologic Hydrocephalus –Abnormal accumulation of cerebrospinal fluid in brain due to obstruction –Symptoms: Enlargement of infant head and bulging eyes Tight scalp and prominent head veins Shrill, high-pitched cry

13. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Neurologic Hydrocephalus –Symptoms: Unable to lift head Mental retardation –Treatment: Surgery to place shunt from brain to peritoneal cavity –Drains excess fluid

14. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Neurologic Cerebral palsy –Congenital bilateral paralysis –Inadequate blood or oxygen supply to brain during fetal development –Symptoms: Hyperactive reflexes and muscle contraction Muscle weakness with scissors gait

15. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Neurologic Cerebral palsy –Treatment: Physical and speech therapy Orthopedic cast, braces, and surgery Anticonvulsants Muscle relaxants –No cure

16. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Neurologic Spina bifida –Congenital disorder Opening in spinal column –Forms of spina bifida Spina bifida occulta Meningocele Myelomeningocele

17. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Neurologic Autism –Developmental disorder characterized by preoccupation with inner thoughts, daydreams, fantasies, and delusions –Cause unknown –Treatment Behavioral therapy –Prognosis relatively poor

18. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Cardiovascular Congenital heart defect –Atrial septal defect Opening between right and left atria May be due to foramen ovale not closing at birth Causes increased workload on right heart

19. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Cardiovascular Congenital heart defect –Ventricular septal defect Most common heart defect Hole between right and left ventricle Blood shunted from left to right Causes increased workload on right heart

20. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Cardiovascular Congenital heart defect –Patent ductus arteriosus Connection between pulmonary artery and aorta that does not close off after birth Blood shunts from aorta to pulmonary artery Causes increased workload on heart and pulmonary system

21. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Cardiovascular Congenital heart defect –Coarctation of aorta Stricture or narrowing of aorta Causes increased blood pressure proximal to narrowing Causes increased workload on heart

22. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Cardiovascular Congenital heart defect –Tetralogy of fallot Pulmonary valve stenosis Right ventricle hypertrophy Ventricle septal defect Abnormal placement of aorta

23. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Blood Sickle cell anemia –Chronic hereditary form of anemia –Predominantly affects black population Hemophilia –X-linked hereditary disorder passed from mother to son

24. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Digestive Digestive malformations –Meckel’s diverticulum Outpouching of diverticulum of the ileum –Esophageal atresia Abnormal esophagus –Congenital diaphragmatic hernia –Imperforate anus

25. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Digestive Cleft lip –One or more splits in upper lip –Affects boys more frequently girls –Treatment: Surgical repair

26. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Digestive Cleft palate –More serious than cleft lip –Involves roof of mouth –Treatment: Surgical repair

27. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Cleft Lip and Palate Photo courtesy Dr. Joseph Konzelman, School of Dentistry, Medical College of Georgia

28. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Cleft Lip and Palate Photo courtesy Dr. Joseph Konzelman, School of Dentistry, Medical College of Georgia

29. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Digestive Pyloric stenosis –Narrowing of lower end of stomach –Common anomaly of digestive tract –Symptoms: Projectile vomiting –Treatment: Pylorotomy

30. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Pyloric Stenosis

31. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Digestive Hirschsprung’s disease –Absence of nerves in segment of colon Usually sigmoid colon –Symptoms: Chronic constipation Abdominal distention

32. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Digestive Hirschsprung’s disease –Treatment: Surgical removal of affected segment Temporary colostomy may be necessary to allow adequate healing of colon

33. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Digestive Phenylketonuria (PKU) –Genetic disorder involving faulty metabolism of protein phenylalanine –Diagnosis by blood test 72 hours after birth Mandatory in United States –Lack of treatment can result in mental retardation

34. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Urinary Hypospadias –Abnormal congenital opening of male urinary meatus on under surface of penis Chordee –Abnormal fibrous band of tissue

35. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Urinary Epispadias –Abnormal congenital opening of male urinary meatus on upper surface of penis

36. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Urinary Wilms’ tumor –Most common solid tumor affecting children and infants –Highly malignant –Usually replaces one whole kidney –Treatment: Chemotherapy Surgery

37. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Reproductive Turner’s syndrome –Chromosomal disorder Females have only one X chromosome –Rather than two XX chromosomes –Ovaries either abnormal or absent –Treatment: Reduce growth with hormones and estrogen therapy

38. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Reproductive Klinefelter’s syndrome –Chromosomal disorder Affected males have extra X chromosome –Symptoms: Not diagnosed until puberty due to abnormal male sexual development Small penis and testes

39. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Reproductive Klinefelter’s syndrome –Symptoms: Enlarged breasts Absent or scant body hair Impaired intelligence –Treatment: Testosterone therapy

40. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Other Disorders Stuttering –Also known as stammering –Developmental speech disorder Hesitancy of starting and finishing words Prolonged pauses between words –Treatment: Behavior modification Positive reinforcement

41. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Multisystem Diseases and Disorders Cystic fibrosis –Hereditary disorder –Affects exocrine glands leading to viscous secretions

42. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Multisystem Diseases and Disorders Cystic fibrosis –Treatment: Postural drainage Chest clapping Antibiotics Bronchodilators Expectorants Oxygen

43. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Multisystem Diseases and Disorders Down syndrome –Formerly called mongolism –Symptoms: Mild to severe mental retardation Flat nasal bridge Low-set ears Slanted eyes

44. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Multisystem Diseases and Disorders Down syndrome –Symptoms: Epicanthus Thick, protruding tongue Abnormal extremities Organ defects

45. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Trauma Failure to thrive –Lack of physical growth and development in infant or child –Symptoms: Weight loss or failure to gain weight Anorexia Irritability Vomiting Diarrhea

46. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Trauma Failure to thrive –Symptoms: Weak, rag-doll limpness Unresponsiveness to affection Wariness of parents or caregivers Avoidance of eye contact Stiffening when cuddled

47. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Trauma Failure to thrive –Treatment: Teaching of mothering and nurturing behaviors to mother/parents Promotion of self-esteem

48. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Trauma Fetal alcohol syndrome –Birth defects to child due to mother consuming alcohol during pregnancy –Symptoms: Varying degrees of mental retardation Decreased physical development

49. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Trauma Fetal alcohol syndrome –Symptoms: Irritability in infants Hyperactivity in older children Microcephaly Increased incidence of ventricular septal defects

50. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Trauma Congenital rubella syndrome –Transmission of rubella virus to unborn fetus –Can cause spontaneous abortion or major birth defects –Prevention: Immunization –No pregnancy for three months after immunization

51. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Rare Diseases Anencephaly –Absence of brain or cranial vault Achondroplasia –Decreased long bone growth leading to type of dwarfism

52. Copyright © 2010 Delmar, Cengage Learning. ALL RIGHTS RESERVED. Rare Diseases Tay-Sachs disease –Genetic error in lipid metabolism resulting in accumulation of toxins in brain