1 / 51

Taking Care of the School Aged Child with a Genetic Condition

Learn about common genetic conditions impacting school-aged children, signs, symptoms, and the role of school nurses in managing such conditions. Discover resources and emergency recognition strategies for better care.

juned
Download Presentation

Taking Care of the School Aged Child with a Genetic Condition

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  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

More Related