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Course: Pediatric Nursing

Topic: Nursing Care of Child with

Genetic Disorder Part II

The Nurses International Community

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Module Goals

Learners will be able to:

Define neurofibromatosis and inborn error of metabolism
List signs and symptoms of these genetic disorders in children
Identify risk factors for these disorders in children
Describe related diagnostic procedures
Describe evidence-based management of these disorders in children
Discuss nursing management of a child with these disorders

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Neurofibromatosis (NF)

Genetic neurological disorder
Tumor development affects brain, spinal cord, and nerves
No known cure, palliative treatment
Neurofibromatosis type 1 (NF1)

Mutation of chromosome 17 gene (that regulates cell division in the nervous system)
More common than Neurofibromatosis type 2

Neurofibromatosis type 2 (NF2)

Mutation of chromosome 22 gene (that makes tumor-suppressor protein)

(National Institute of Neurological Disorders and Stroke, 2022

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NF1: Diagnostic Clinical Features

Diagnosed if some of the following clinical features are present:

Six or more flat, light brown spots on the skin (café-au-lait spots)

Measuring 5 millimeters in diameter in children, more than 15 millimeters in adolescents.

Two or more cutaneous neurofibroma or one larger plexiform neurofibroma.
Freckling in armpits or groin, usually appears between age 3 to 5.

National Institute of Neurological Disorders and Stroke, 2022

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NF1: Diagnostic Clinical Features (Continued)

Two or more growths on iris of the eye (known as Lisch nodules or iris hamartomas).
Optic pathway glioma, which usually appear by age 6.
Bone deformities.

Sphenoid wing dysplasia or a bowing of tibia bone in the leg or other long bones (pseudoarthrosis).

A parent, sibling, or child with NF1.

Supplementary diagnostic tests: MRI, Blood test, X-ray.

National Institute of Neurological Disorders and Stroke, 2022

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NF1: Management

Healthy children with NF1 examined at regular intervals:

Height, weight, head circumference, evidence of normal sexual development, signs of learning disability and/or behavioral issues.
Signs/symptoms of NF.

FDA approved selumetinib for children age 2 years or older

Help stops tumor cell growth

Surgery: Tumors or bone deformity
Medicine for secondary condition: headache, seizures, pain, etc.
Special education programs for ADHD, learning disabilities, etc.

National Institute of Neurological Disorders and Stroke, 2022

American Association of Neurological

Surgeons, n.d.; NHS, 2021a

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Case Study

A parents of a child is diagnosed with Neurofibromatosis type 1 (NF1).

The parents of the child are anxious, worried and ask how their child can be cured of this disease.

What would be the nurse’s response to the parents?

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NF2

Slow-growing tumors affecting cranial, spinal, peripheral nerves, and meninges:

Schwannomas

Often occur on the eighth cranial nerve
Vestibular schwannoma most recognized form in NF2

Meningioma
Ependymoma

Most common first symptoms are hearing loss or ringing in the ears.

National Institute of Neurological Disorders and Stroke, 2022

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NF2 (Continued)

Other sign/symptoms:

Disturbances in balance
Visual impairment
Focal weakness in an arm or legs
Seizures
Skin tumors

National Institute of Neurological Disorders and Stroke, 2022

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NF2: Diagnostic Clinical Features

To diagnose NF2, Specialist looks for the following:

Vestibular schwannomas
A parent, sibling, or child with NF2�plus a unilateral vestibular schwannoma (on one side of the body) before age 30; or

Any of the following:

Ependymoma
Meningioma
Schwannoma of non-vestibular nerves
Juvenile cataract or retinal abnormalities

Supplementary diagnostic tests: MRI, blood test.

National Institute of Neurological Disorders and Stroke, 2022

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NF2: Management

Annual follow-up and symptomatic treatment

Surgery:

Tumor removal

May cause complete deafness or facial weakness
Carefully consider risks and potential benefits

Surgical placement of a cochlear implant in those with intact auditory nerve
Correct cataracts and retinal abnormalities

Some benefit from hearing aid, lip-reading skills
Mobility issues may require assistive devices

National Institute of Neurological Disorders and Stroke, 2022

NHS, 2021b

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Nursing Considerations for Neurofibromatosis

Assess for sign/symptoms of neurofibromatosis
Refer suspected cases to specialist and genetic counselor
Ensure child/parent concerns are addressed appropriately
Pre and post operative care
Ensure child/parent receive education to care for affected child
Assist child/parent to access available resources:

Special education programs
Support groups
Hearing aids, wheelchair, other assistive devices

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Case Study

A 15 years old child complains that he recently is hearing less, feels like his ears are ringing, his right arm and legs are weak, his hand has no grip, and has difficulty balancing.

What does the nurse suspect that these symptoms suggest?

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Inborn Errors of Metabolism (IEM)

Heterogeneous group of disorders that involve failure of metabolic pathways.

Disrupts carbohydrate metabolism, protein metabolism, fatty acid oxidation, or glycogen storage.

Inherited or a result of spontaneous mutation.
May present at any age.
May cause developmental delays or other medical problems if not managed.
IEMs are named after malfunctioning enzyme.
The earlier the symptoms appear, the more severe the disease.

Jeanmonod, Asuka, & Jeanmond, 2021

National Human Genome Research Institute, 2013

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National Human Genome Research Institute, 2013

IEM	Examples
Urea cycle disorders	Ornithine transcarbamylase deficiency, citrullinemia,
Organic acidemias	Propionic acidemia, methylmalonic aciduria, isovaleric acidemia, glutaric acidemia
Fatty acid oxidation defects	Medium chain acyl-CoA dehydrogenase deficiency, carnitine palmitoyl transferase 1 deficiency
Amino acidopathies	Tyrosinemia, phenylketonuria, homocysteinuria
Carbohydrate disorders	Galactosemia, fructosemia
Mitochondrial disorders	MELAS, MERFF, pyruvate dehydrogenase deficiency

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IEM: Signs/Symptoms

Severity of symptoms generally based on:

Position of the defective enzyme within the metabolic pathway.
Whether or not there is any functional enzyme or cofactor being produced.

Common presentations:

Neurologic abnormalities:

Developmental delay, loss of milestones, poor tone, poor suck, seizure.

Gastrointestinal symptoms:

Vomiting, hepatomegaly, food intolerance, diarrhea, food aversion, exercise intolerance, dehydration.

Jeanmonod, Asuka, & Jeanmond, 2021

National Human Genome Research Institute, 2013

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IEM: Assessment and Diagnostics

Medical history
Possibility of IEM should be considered in cases of sepsis-like symptoms, metabolic acidosis, unexplained hypoglycemia, constitutional liver dysfunction, and encephalopathy.
Tests:

Complete blood count, ammonia, glucose, uric acid
Arterial blood gas, lactate
Liver function tests
Urine ketones, pH

Refer to metabolic specialist If any of the above test are abnormal, and no response to antibiotics.

Kruszka & Regier, 2019

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IEM: Assessment and Diagnostics (Continued)

Prenatal ultrasound can detect some IEM
Prenatal diagnosis:

Chorionic Villus Sampling
Amniocentesis

Diagnostic blood tests:

Enzymes levels specific to IEM
Analysis of changes in genes specific to IEM

Expanded Newborn Screening (NBS) can identify 34 IEM disorders

Jeanmonod, Asuka, & Jeanmond, 2021

Kruszka & Regier, 2019

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IEM: Management

Empirical treatment should be initiated as soon as diagnosis of IEM is suspected.
Goals of treatment:

Prevent further accumulation of toxic substance.
Correction of metabolic abnormalities.
Eliminate toxic metabolites that result from the block in metabolism.

Treatment of IEM is tailored to the specific disorder.
Close monitoring by metabolic disorder specialist.

Jeanmonod, Asuka, & Jeanmond, 2021

National Human Genome Research Institute, 2013

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IEM: Initial Management

May require aggressive resuscitation with advanced life support
Immediately put on ‘NPO’ i.e nothing given by mouth
Prevent catabolism by intravenous glucose
Insulin for hyperglycemia
For elevated ammonia:

Nitrogen scavengers such as sodium benzoate or sodium phenylacetate
Ammonia blood level >500 µmol/L requires dialysis

Intravenous medications to chelate or divert toxic metabolites, replenish deficient metabolites
Require monitoring in intensive care unit setting

Jeanmonod, Asuka, & Jeanmond, 2021

Kruszka & Regier, 2019

Raina et al., 2020

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IEM: Management (Continued)

Dietary modification
Enzyme replacement
Co-enzyme replacement
Medication

The Royal Children’s Hospital Melbourne, n.d.

National Human Genome Research Institute, 2013

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Nursing Considerations for Children with IEM

Assess and implement initial empirical management.
Ensure parents are informed of their child’s condition, their concerns are addressed, are able to make informed decisions.
Ensure child/parent receive counseling from metabolic specialist, geneticist, and dietician.
Anticipate/initiate grief work with parents and adjustment to prognosis.
Provide education about prescribed medication safety.
Assist child/parent gain access to available resources.

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Critical Thinking Question

A child is admitted to the unit for Inborn errors of metabolism (IEM).

What kind of emergency preparedness should the nurse plan for the child?

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Cultural Considerations

Religion, culture, beliefs, and ethnic customs can influence how families understand and use health concepts:

Health beliefs: In some cultures talking about a possible poor health outcome will cause that outcome to occur.
Health customs: In some cultures family members play a large role in health care decision-making.
Ethnic customs: Differing gender roles may determine who makes decisions about accepting & following treatment recommendations.

AHRQ, 2020

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Cultural Considerations (Continued):

Religion, culture, beliefs, and ethnic customs can influence how families understand and use health concepts:

Religious beliefs: Faith and spiritual beliefs may effect health seeking behavior and willingness to accept treatment.
Dietary customs: Dietary advice may be difficult to follow if it does not fit the foods or cooking methods of the family.
Interpersonal customs: Eye contact or physical touch may be ok in some cultures but inappropriate or offensive in others.

AHRQ, 2020

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Cultural Considerations: Examples

Identify cultural beliefs surrounding children who has malformations, development delays, or intellectual disabilities.

Consider how, if any, cultural beliefs surrounding signs/symptoms of genetic disorders may affect the child and the family.

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References:

American Association of Neurological Surgeons. (n.d.) Neurofibromatosis. https://www.aans.org/en/Patients/Neurosurgical-Conditions-and-Treatments/Neurofibromatosis#:~:text=There%20is%20no%20known%20treatment,or%20reduced%20with%20radiation%20therapy.

Jeanmonod, R., Asuka, E., & Jeanmonod, D. (2021, November 7). Inborn Errors Of Metabolism. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK459183/

Kruszka, P. , & Regier, D. (2019). Inborn Errors of Metabolism: From Preconception to Adulthood. American Family Physician, 99(1):25-32. https://www.aafp.org/pubs/afp/issues/2019/0101/p25.html

National Human Genome Research Institute. (2013, February 22). About Inborn Errors of Metabolism. https://www.genome.gov/Genetic-Disorders/Inborn-Errors-of-Metabolism

National Institute of Neurological Disorders and Stroke. (2022, April 25). Neurofibromatosis Fact Sheet. https://www.ninds.nih.gov/health-information/patient-caregiver-education/fact-sheets/neurofibromatosis-fact-sheet?search-term=Neurofibromatosis

Contact info: info@nursesinternational.org

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References:

NHS UK. (2021a, August 11). Overview: Neurofibromatosis type 1. https://www.nhs.uk/conditions/neurofibromatosis-type-1/

NHS UK. (2021b, April 27). Overview: Neurofibromatosis type 2. https://www.nhs.uk/conditions/neurofibromatosis-type-2/#:~:text=Neurofibromatosis%20type%202%20(NF2)%20is,much%20more%20common%20than%20NF2.

Raina, R., Bedoyan, J. K., Lichter-Konecki, U., Jouvet, P., Picca, S., Mew, N. A., Machado, M. C., Chakraborty, R., Vemuganti, M., Grewal, M. K., Bunchman, T., Sethi, S. K., Krishnappa, V., McCulloch, M., Alhasan, K., Bagga, A., Basu, R. K., Schaefer, F., Filler, G., & Warady, B. A. (2020). Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy. Nature reviews. Nephrology, 16(8), 471–482. https://doi.org/10.1038/s41581-020-0267-8

The Royal Children’s Hospital Melbourne. (n.d.). Metabolic disorders. https://www.rch.org.au/clinicalguide/guideline_index/Metabolic_disorders/

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