taking care of the school aged child with a genetic condition
DESCRIPTION
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 [email protected]. Objectives. Describe the most common genetic conditions impacting the school aged child - PowerPoint PPT PresentationTRANSCRIPT
![Page 1: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/1.jpg)
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
![Page 2: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/2.jpg)
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
![Page 3: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/3.jpg)
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
![Page 4: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/4.jpg)
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
![Page 5: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/5.jpg)
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
![Page 6: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/6.jpg)
Introduction to Genetics: Chromosomes, DNA, and Genes
CellCellNucleusNucleus
ChromosomesChromosomes
Gene
ProteinProtein
![Page 7: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/7.jpg)
Chromosomes: normal female
![Page 8: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/8.jpg)
Chromosomes: normal male
![Page 9: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/9.jpg)
Down syndrome
![Page 10: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/10.jpg)
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.
![Page 11: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/11.jpg)
Trisomy 21 (Down syndrome)
Karyotype
X
20
2221
GainLoss
![Page 12: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/12.jpg)
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
![Page 13: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/13.jpg)
Clinical Features
Skeletal abnormalities
Cardiac manifestations
Eye abnormalities
![Page 14: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/14.jpg)
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
![Page 15: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/15.jpg)
Cardiac Features
Aortic dilation and aortic aneurysms Predisposition for aortic tear and
rupture Mitral valve prolapse Aortic regurgitation
![Page 16: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/16.jpg)
Eye Findings
Dislocated Lens
Myopia
Detached Retina
![Page 17: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/17.jpg)
Evaluation: complex
Physical exam
Family history
Echocardiogram
Ophthalmologic exam
![Page 18: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/18.jpg)
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
![Page 19: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/19.jpg)
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.
![Page 20: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/20.jpg)
Inheritance
Autosomal Dominant
75% have an affected parent
25% due to a new mutation or change
![Page 21: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/21.jpg)
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
![Page 22: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/22.jpg)
Treatment may include:
Antihypertensives Surgery Anticoagulants Headache and/or pain management Antidepressants
![Page 23: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/23.jpg)
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.
![Page 24: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/24.jpg)
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
![Page 25: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/25.jpg)
Case history
male female
12 mo. old
![Page 26: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/26.jpg)
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
![Page 27: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/27.jpg)
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
![Page 28: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/28.jpg)
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.
![Page 29: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/29.jpg)
Lifespan
With early diagnosis and ongoing treatment, life expectancy close to normal.
![Page 30: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/30.jpg)
Resources
National Marfan Foundation Offer free DVD for school
nurse www.marfan.org
Current clinical research studies www.clinicaltrials.gov
![Page 31: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/31.jpg)
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
![Page 32: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/32.jpg)
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
![Page 33: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/33.jpg)
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
![Page 34: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/34.jpg)
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
![Page 35: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/35.jpg)
•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
![Page 36: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/36.jpg)
Evaluation
Physical exam and presence of signs and symptoms of VCFS
Blood test: Chromosome microarray testing
![Page 37: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/37.jpg)
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
![Page 38: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/38.jpg)
Chromosome Microarray Analysis
Abnormal signal from the microarray
very tiny deletion of the genetic material
22q11 deletion syndrome
![Page 39: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/39.jpg)
Inheritance
Autosomal Dominant
~ 90% are new deletion in family
~ 10% are inherited from a parent
![Page 40: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/40.jpg)
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.
![Page 41: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/41.jpg)
Treatment
Depends on symptoms: Surgery to correct cleft palate
and/or heart defectSpeech therapy Psychological counseling,
psychiatric care Medication
![Page 42: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/42.jpg)
VCFS Resources
International 22q Foundation: www.22q.org
VCFS Texas, Inc.: www.vcfstexas.com
![Page 43: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/43.jpg)
Role of the School Nurse
Screening/ Identify Refer Management Educate teachers/parents Support and follow-up
![Page 44: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/44.jpg)
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
![Page 45: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/45.jpg)
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
![Page 46: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/46.jpg)
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
![Page 47: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/47.jpg)
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
![Page 48: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/48.jpg)
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
![Page 49: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/49.jpg)
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
![Page 50: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/50.jpg)
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
![Page 51: Taking Care of the School Aged Child with a Genetic Condition](https://reader036.vdocuments.net/reader036/viewer/2022062722/56813a15550346895da1f1a3/html5/thumbnails/51.jpg)
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