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

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 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