Taking Care of the School Aged Child with a Genetic Condition
Susan Fernbach, RN, BSN
Director of Genetic OutreachBaylor College of MedicineTexas Children’s Hospital
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 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
VeloCardioFacial Syndrome affects 1: 2000 to 1:4000 people
Introduction to Genetics: Chromosomes, DNA, and Genes
CellCellNucleusNucleus
ChromosomesChromosomes
Gene
ProteinProtein
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)
Karyotype
X
20
2221
GainLoss
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
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 2nd 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 Offer free DVD for school
nurse www.marfan.org
Current clinical research studies www.clinicaltrials.gov
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
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
Deletion 22q11.2
DiGeorge SyndromeVelocardiofacial
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
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
•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.
Characteristics
Evaluation
Physical exam and presence of signs and symptoms of VCFS
Blood test: Chromosome microarray testing
VCFS is a microdeletion
MicrodeletionToo 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
very tiny deletion of the genetic material
22q11 deletion syndrome
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: Surgery to correct cleft palate
and/or heart defectSpeech therapy Psychological counseling,
psychiatric care Medication
VCFS Resources
International 22q Foundation: www.22q.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 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 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/pedi-genetics.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