Taking Care of the School Aged Child with

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

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 ¡

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

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

Common genetic conditions impacting the school aged child Marfan Syndrome affects 1 -2: 10, 000 people ¡ Velo. Cardio. Facial Syndrome affects 1: 2000 to 1: 4000 people ¡

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

Chromosomes: normal female

Chromosomes: normal male

Down syndrome

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.

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

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

Clinical Features ¡ Skeletal abnormalities ¡ Cardiac manifestations ¡ Eye abnormalities

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

Cardiac Features Aortic dilation and aortic aneurysms ¡ Predisposition for aortic tear and rupture ¡ Mitral valve prolapse ¡ Aortic regurgitation ¡

Eye Findings ¡ Dislocated Lens ¡ Myopia ¡ Detached Retina

Evaluation: complex ¡ Physical exam ¡ Family history ¡ Echocardiogram ¡ Ophthalmologic exam

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 ¡

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. ¡

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

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

Treatment may include: Antihypertensives ¡ Surgery ¡ Anticoagulants ¡ Headache and/or pain management ¡ Antidepressants ¡

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 2 nd set of text books at home. ¡

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 ¡

Case history male female 12 mo. old

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 ¡

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

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.

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

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

Velo. Cardio. Facial Syndrome ¡ ¡ ¡ Velo. Cardio. Facial Syndrome (VCFS) is also called Di. George Syndrome or 22 q 11. 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

A Short History ¡ 1965 Dr. Di. George 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 22 q 11. 2

Deletion 22 q 11. 2 ¡ Presenting in infancy Velocardiofacial Syndrome ¡ Childhood/adulthood ¡ Severe heart defects ¡ Di. George Syndrome l ¡ Often lethal Severe infections l Heart defects l ¡ Immunodeficiency Weak palate; cleft palate l ¡ Usually mild Nasal voice Seizures l Low calcium levels ¡ Long face and fingers

Microdeletions 22 q 11. 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

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.

Evaluation ¡ ¡ Physical exam and presence of signs and symptoms of VCFS Blood test: Chromosome microarray testing

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

Chromosome Microarray Analysis Abnormal signal from the microarray 22 q 11 deletion syndrome very tiny deletion of the genetic material

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

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. ¡

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

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

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

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

Referral ¡ Discuss with parents ¡ Provide referral information l l l 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

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

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

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 ¡

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/pedigenetics. shtm Unique : www. rarechromo. org

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

Know your own family health history! My Family Health Portrait: www. hhs. gov/familyhistory ¡ ¡ Helps you know your risk of heart disease, diabetes, cancer Take steps with your doctor to reduce your risk Your family history is a gift to you and your health If you are adopted, your health history will help your children and grandchildren