Taking Care of the School Aged Child with a Genetic Condition

1. Taking Care of the School Aged Child with a Genetic Condition Susan Fernbach, RN, BSN Director of Genetic Outreach Baylor College of Medicine Texas Children’s Hospital fernbach@bcm.edu

2. Objectives • Describe the most common genetic conditions impacting the school aged child • Discuss signs & symptoms of 2 common genetic conditions • Describe the role of the school nurse • Identify 3 national genetic resources

3. Introduction • Genetic disorders are individually rare but collectively very common and seen throughout the lifespan • Have a significant impact on total hospitalizations and health care needs • Early diagnosis important to improve long-term outcome

4. Common genetic conditions impacting the school aged child • Chromosome abnormalities • Down Syndrome 1:700 children • Sickle Cell Anemia: 1 in 625 • Cystic Fibrosis 1:3300 • Neurofibromatosis 1: 3500 • Duchenne Muscular Dystrophy 1:3500

5. Common genetic conditions impacting the school aged child • Marfan Syndrome affects 1-2:10,000 people • VeloCardioFacial Syndrome affects 1: 2000 to 1:4000 people

6. Gene Nucleus Cell Chromosomes Protein Introduction to Genetics: Chromosomes, DNA, and Genes

7. Chromosomes: normal female

8. Chromosomes: normal male

9. Down syndrome

10. Chromosome Microarray Analysis (CMA) • CMA is a new lab technology to analyze the chromosomes for a large number of genetic disorders. • CMA has greater sensitivity than older methods of chromosome analysis.

11. 20 21 22 X Loss Gain Trisomy 21 (Down syndrome) Karyotype

12. Marfan Syndrome • Inherited disorder of connective tissue: abnormal protein causes weaker connective tissue throughout body • Mutation or change in fibrillin gene on chromosome 15 • Affects males/females • Affects all ethnic groups • Described by Dr. Antoine Marfan in 1896 • Symptoms variable, range from mild to severe

13. Clinical Features • Skeletal abnormalities • Cardiac manifestations • Eye abnormalities

14. Skeletal abnormalities • Long narrow face with high arched palate. • Disproportionately long fingers and limbs • Chest abnormalities, pectus excavatum or pectus carinatum • Scoliosis- seen in about 50% • Joint hypermobility

15. Cardiac Features • Aortic dilation and aortic aneurysms • Predisposition for aortic tear and rupture • Mitral valve prolapse • Aortic regurgitation

16. Eye Findings • Dislocated Lens • Myopia • Detached Retina

17. Evaluation: complex • Physical exam • Family history • Echocardiogram • Ophthalmologic exam

18. Cause • Mutation or change in fibrillin gene on chromosome 15. • This gene tells the body how to make the fibrillin-1 protein needed by connective tissue • Affects eyes, heart, lungs, skin, skeletal system

19. Diagnosis • Diagnosis based on physical criteria, not genetic testing • Fibrillin gene on Chromosome 15 causes Marfan syndrome. Over 300 mutations in this gene have been found. • Testing currently expensive and may not detect a mutation.

20. Inheritance • Autosomal Dominant • 75% have an affected parent • 25% due to a new mutation or change

21. Genetic Counseling • If familial, siblings have a 50% risk • If new mutation, siblings have low risk • Any child of the affected person will have a 50% chance to be affected

22. Treatment may include: • Antihypertensives • Surgery • Anticoagulants • Headache and/or pain management • Antidepressants

23. Physical Activity Guidelines • Want non-contact, non-strenuous, non-competitive activities • Encourage brisk walking, slow jogging, cycling on level ground, shooting baskets, slow paced tennis. • Backpacks can be heavy, may want to have a 2nd set of text books at home.

24. Athletics • Avoid competitive sports, weight-lifting • Guide children away from sports at a young age • Encourage them to become active in other areas: computers, music, drama or team managing

25. Case history male female 12 mo. old

26. Role of the School Nurse • Screening: vision, posture, BMI, Pre-Sports physicals • Refer: convey need to parents, help with referral, follow-up • Manage medicines, psychosocial • Help student learn to communicate health concerns or needs • Educate teachers/parents • Support and follow-up

27. How to recognize emergencies • Aortic rupture or dissection: rare in school aged child. Usually painful, has been described as ‘tearing pain boring through’. May have syncope or shortness of breath. • Pneumothorax: shortness of breath, pain • Retinal detachment: flashing lights, spots in vision, sudden loss of vision

28. Have Emergency Plan -Physician and insurance information -List of all medications -Keep document on hand with current clinical status -Date of last ECHO and findings -List all surgeries to date -Hospital the child should be transported to in the event of an emergency.

29. Lifespan With early diagnosis and ongoing treatment, life expectancy close to normal.

30. Resources • National Marfan Foundation • Offer free DVD for school nurse • www.marfan.org • Current clinical research studies • www.clinicaltrials.gov

31. VeloCardioFacial Syndrome • VeloCardioFacial Syndrome (VCFS) is also called DiGeorge Syndrome or 22q11.2 deletion syndrome • Is a microdeletion syndrome • Even tiny losses of genetic material can be the cause of a genetic syndrome • Affects males/females • Affects all ethnic groups

32. A Short History • 1965 Dr. DiGeorge describes children with low calcium, seizures, infections & heart defects. • 1978 Dr. Shprintzen describes a condition running in families. Patients have cleft palate or velopharyngeal incompetence, heart defects, learning disabilities & characteristic facial appearance. He calls it velocardiofacial syndrome. • 1992 DGS & VCFS found to be due to deletion 22q11.2

33. Deletion 22q11.2 DiGeorge Syndrome Velocardiofacial Syndrome • Presenting in infancy • Severe heart defects • Often lethal • Severe infections • Immunodeficiency • Seizures • Low calcium levels • Childhood/adulthood • Heart defects • Usually mild • Weak palate; cleft palate • Nasal voice • Long face and fingers

34. Microdeletions 22q11.2 VCFS Characteristics • Over 180 physical & developmental characteristics reported: • Heart defects: (80%) (VSD, DORV, TOF) • Cleft palate (75%) • Prominent nose • Small and cupped ears • Renal abnormalities (>30%) • Learning disabilities, mild mental retardation: IQ ~ 80 • Psychiatric illnesses (>40 %): schizophrenia, bipolar disorder

35. Characteristics • No feature occurs in all children • No child has all of these features. • The medical, developmental & psychological features are very different from person to person. • Range from severe to mild.

36. Evaluation • Physical exam and presence of signs and symptoms of VCFS • Blood test: Chromosome microarray testing

37. VCFS is a microdeletion • Microdeletion • Too small to be seen with routine chromosome studies • 10-100 genes in a row deleted • Detected with new chromosome microarray test

38. Chromosome Microarray Analysis Abnormal signal from the microarray very tiny deletion of the genetic material 22q11 deletion syndrome

39. Inheritance • Autosomal Dominant • ~ 90% are new deletion in family • ~ 10% are inherited from a parent

40. Genetic Counseling • When a child is diagnosed with VCFS, testing the parents is also recommended. • If a parent is affected, each of their children has a 50% chance to be affected.

41. Treatment • Depends on symptoms: • Surgery to correct cleft palate and/or heart defect • Speech therapy • Psychological counseling, psychiatric care • Medication

42. VCFS Resources • International 22q Foundation: www.22q.org • VCFS Texas, Inc.: www.vcfstexas.com

43. Role of the School Nurse • Screening/ Identify • Refer • Management • Educate teachers/parents • Support and follow-up

44. Identify • Child with developmental disabilities, single gene disorder, heart defects • Multiple health problems • Tall or short stature or uneven body proportions • If a child has 3 or more minor anomalies, may have 1 or more major malformation Examples: • Facial features that are unusual or different from other family members • Ear abnormalities Unusually shaped eyes • Webbed fingers or toes Unusual birthmarks

45. Referral • Discuss with parents • Provide referral information • Texas Children’s Hospital Genetics Clinic 832.822.4293 • Children’s Memorial Hermann Genetics 832.325.6516 • Genetic providers in Texas: www.dshs.state.tx.us/genetics/provider.shtm

46. Clinical Benefits of Genetic Evaluation • Anticipatory monitoring – ex: obtaining a kidney ultrasound for children with VCFS • Early intervention – ex: speech therapy for children with VCFS • Clinical screening of parents & brothers/sisters with VCFS, Marfan • Discuss recurrence risk for parents

47. How to prepare families for a genetic evaluation? • The first appointment may last ~1 ½ to 2 hours for physical exam, family history, detailed medical history, review previous tests, DNA tests may be ordered (blood sample) • Test results available in 2-3 weeks • A second appointment scheduled to review results and plan of care

48. Support • Support family through grieving with the child’s diagnosis of a genetic condition • Besides the feelings of numbness, helplessness, anger, denial, sadness, shame, there can be a great deal of guilt • Help parent see their child’s strengths and get help for the areas of weakness • Assess their understanding of the diagnosis and refer back to genetics clinic if needed • Help families connect with other families or support groups • Offer access to local, state, national resources

49. Web Resources • Genetic Home Reference: http://ghr.nlm.nih.gov/ • Gene tests www.genetests.org • March of Dimes. Genetics and Your Practice: www.marchofdimes.com • National Organization for Rare Disorders: www.rarediseases.org • Texas Department of State Health Services: http://www.dshs.state.tx.us/genetics/pedi-genetics.shtm • Unique : www.rarechromo.org

50. Summary • Genetic disorders are individually rare but collectively very common and may be seen throughout the lifespan • School nurse is a key person in identifying and referring children for evaluation of genetic condition