Chapter 51 Nursing Care of the Child With

  • Slides: 42
Download presentation
Chapter 51: Nursing Care of the Child With a Genetic Disorder

Chapter 51: Nursing Care of the Child With a Genetic Disorder

Inheritance • Genes are individual units of heredity of all traits and are organized

Inheritance • Genes are individual units of heredity of all traits and are organized into long segments of deoxyribonucleic acid (DNA) that occupy specific locations on chromosomes and determine particular characteristics in an organism • Genes determine the physical and mental characteristics of humans • A chromosome is a long, continuous strand of DNA that carries genetic information

Pedigree: a diagram showing links between family members and medical information

Pedigree: a diagram showing links between family members and medical information

Nurse’s Role and Responsibilities • Pediatric nurses will encounter children with genetic disorders in

Nurse’s Role and Responsibilities • Pediatric nurses will encounter children with genetic disorders in every clinical specialty area, including clinics, hospitals, schools, and community-based centers • Talking with families who have recently been diagnosed with a genetic disorder or who have had a child born with congenital anomalies is very difficult • Many times the nurse may be the one who has first contact with these parents and will be the one to provide follow-up care

Common Medical Treatments • A variety of medications as well as other medical treatments

Common Medical Treatments • A variety of medications as well as other medical treatments are used to treat the symptoms of genetic disorders in children • Genetic disorders do not have specific treatments and there is no cure • Treatment will focus on the specific symptoms of each disorder

Nursing Process Overview for the Child with a • Assessment Genetic Disorder – Health

Nursing Process Overview for the Child with a • Assessment Genetic Disorder – Health history – Physical examination • Inspection and observation • Auscultation • Palpation – Laboratory and diagnostic testing • Nursing diagnoses, goals, interventions, and evaluations

Common Chromosomal Abnormalities

Common Chromosomal Abnormalities

Down Syndrome • AKA trisomy 21: – Extra chromosome 21 in 92%-95% – Translocation

Down Syndrome • AKA trisomy 21: – Extra chromosome 21 in 92%-95% – Translocation of chromosome 21 in 3%6% – Mosaicism in 1%-3% • Syndrome: A recognized pattern of malformations with a single, specific anatomic, physiologic, or biochemical cause

Chromosome Mapping showing Trisomy 21

Chromosome Mapping showing Trisomy 21

Down Syndrome (cont’d) • Etiology unknown, likely multiple causes • Most common chromosomal abnormality:

Down Syndrome (cont’d) • Etiology unknown, likely multiple causes • Most common chromosomal abnormality: – 1 in 800 -1000 live births • Maternal age: – Age 30: incidence ~1 in 950 – Age 40: incidence ~1 in 110 – In about 5% of cases extra chromosome is from father – 80% of Down syndrome infants have mothers <35 years old • Most common genetic cause of intellectual disability

Manifestations of Down Syndrome • Head, face, eyes – Rounded and small skull –

Manifestations of Down Syndrome • Head, face, eyes – Rounded and small skull – Inner epicanthal folds, speckling on Iris (Brushfield spots) – Small nose, depressed nasal bridge – Small ears, short pinna, conductive hearing loss – Protruding tongue, delayed teeth eruption (small and mal-aligned, prone to dental caries) • Chest, neck, – Short, broad neck with excess skin – Shortened rib cage, 12 th rib anomalies – Congenital heart defect

Manifestations of Down Syndrome(cont. ) • Abdomen, Genitalia, skin – Protruding, lax, flabby abdomen

Manifestations of Down Syndrome(cont. ) • Abdomen, Genitalia, skin – Protruding, lax, flabby abdomen – Prone to umbilical hernias – Males: small penis, cryptorchidism undescended testicle(s) – Females: bulbous vulva • Hands, feet – Broad, short hands and stubby fingers – Incurved little finger and transverse palmar crease – Broad, short feet and stubby toes, wide space between big and 2 nd toes – Plantar crease

Child with Down Syndrome FIG. 19 -6  Down syndrome in an infant. Note small, square

Child with Down Syndrome FIG. 19 -6  Down syndrome in an infant. Note small, square head with upward slant to eyes, flat nasal bridge, protruding tongue, mottled skin, and hypotonia.

Down Syndrome Congenital Anomalies • 40%-45% heart defects • Renal: hypoplasia, glomerular malformation, simple

Down Syndrome Congenital Anomalies • 40%-45% heart defects • Renal: hypoplasia, glomerular malformation, simple cysts, obstructive uropathy • Hirschsprung: Hirschsprung's disease is a condition that affects the large intestine (colon) and causes problems with passing stool. • Tracheoesophageal fistula • Altered immune function: early senescence (aging) • Skeletal defects: – Atlantoaxial instability: instability of first and second cervical vertebrae; concern with sports activities; stress on head and neck from spinal cord compression

Diagrams of Congenital Defects • Tracheoesophageal fistula • Septal defects: atrial and ventricular

Diagrams of Congenital Defects • Tracheoesophageal fistula • Septal defects: atrial and ventricular

Meet Lilya

Meet Lilya

Other Complications of Down Syndrome • • • Leukemia. Young children with Down syndrome

Other Complications of Down Syndrome • • • Leukemia. Young children with Down syndrome are more likely to develop leukemia than are other children. Infectious diseases. Because of abnormalities in their immune systems, those with Down syndrome are much more susceptible to infectious diseases, such as pneumonia. Dementia. Later in life, people with Down syndrome have a greatly increased risk of dementia. Signs and symptoms of dementia often appear before age 40 in people with Down syndrome. Sleep apnea. Because of soft tissue and skeletal alterations that lead to the obstruction of their airways, children with Down syndrome are at greater risk of obstructive sleep apnea. Obesity. People with Down syndrome have a greater tendency to be obese than does the general population. Other problems. Down syndrome may also be associated with other health conditions, including gastrointestinal blockage, thyroid problems, hearing loss, skeletal problems and poor vision.

Life expectancy • Life spans have increased dramatically for people with Down syndrome. –

Life expectancy • Life spans have increased dramatically for people with Down syndrome. – In 1929, a baby born with Down syndrome often didn't live to age 10. – Today, someone with Down syndrome can expect to live to 50 and beyond, depending on the severity of his or health problems. Life span continues to increase because of early interventions and better care. • http: //www. mayoclinic. com/health/downsyndrome/DS 00182/DSECTION=complications

Common Chromosomal Abnormalities Trisomy 18 (Edwards syndrome) – 3 number 18 chromosomes – Occurs

Common Chromosomal Abnormalities Trisomy 18 (Edwards syndrome) – 3 number 18 chromosomes – Occurs 1: 6, 000 births Trisomy 13 – 3 number 13 chromosomes – Occurs 1: 10, 000 births • • • Both produce several anomolies and mental retardation Prognosis is poor; usually don’t survive past 1 year No cure May be diagnoses during prenatal period or shortly after birth Nursing Management: – Supportive to family – Keep child comfortable – Provide resources • SOFT a support organization for families with children who have chromosomal abnormalities – http: //www. trisomy. org/

 • Trisomy 18 • Trisomy 13

• Trisomy 18 • Trisomy 13

Turner’s syndrome • Abnormality of the sex chromosome, have only one X chromosome or

Turner’s syndrome • Abnormality of the sex chromosome, have only one X chromosome or abnormality of one sex chromosomes (XO) • Occurs 1: 4, 000 live female births • A sporadic event so doesn’t affect future pregnancies • Abnormality is not inherited from an affected parent (not passed down from parent to child) because women with Turner syndrome are usually sterile and cannot have children. • No cure • Therapeutic management focuses on health issues with syndrome

What are the symptoms of Turner syndrome? • • • Turner syndrome affects growth

What are the symptoms of Turner syndrome? • • • Turner syndrome affects growth and sexual development. – Girls with this disorder are shorter than normal, and may fail to start puberty when they should. This is because the ovaries (which produce eggs, as well as the sex hormones estrogen and progesterone) fail to develop properly. Women with Turner syndrome appear to have – a stocky appearance, – arms that turn out slightly at the elbow, – a receding lower jaw, – a short webbed neck, – and low hairline at the back of the neck. Other medical symptoms include: – lymphedema (swelling of hands and feet), – heart and/or kidney defects, – high blood pressure, and – infertility (inability to have children).

Characteristics of Turner Syndrome • Webbed neck • Low posterior hairline, • Wide-spaced nipples,

Characteristics of Turner Syndrome • Webbed neck • Low posterior hairline, • Wide-spaced nipples, • Edema of hands and feet, • Amenorrhea • No secondary sex characteristics • Sterility • Perceptual and social skill difficulties

How do doctors diagnose Turner syndrome? • • • About half of the cases

How do doctors diagnose Turner syndrome? • • • About half of the cases are diagnosed within the first few months of a girl's life by the characteristic physical symptoms (swelling of the hands and feet, or a heart defect). Other patients are diagnosed in adolescence because they fail to grow normally or go through puberty. When the doctor suspects Turner syndrome, a blood sample can be used to make a karyotype (a chromosome analysis) and the diagnosis can be confirmed. Turner syndrome may be diagnosed during pregnancy with a chorionic villus sampling (CVS) or amniocentesis. Alternatively, an ultrasound (a machine that uses sound waves to look inside a mother's uterus) can identify the disorder by its physical symptoms before the baby is born.

How is Turner syndrome treated? • Hormone replacement therapy is the best way to

How is Turner syndrome treated? • Hormone replacement therapy is the best way to treat this disorder. • Teenagers are treated with growth hormone to help them reach a normal height. • They may also be given low doses of androgens (male hormones which females also produce in small quantities) to increase height and encourage normal hair and muscle growth. • Some patients may take the female hormone estrogen to promote normal sexual development.

Common Chromosomal Abnormalities Klinefelter’s syndrome (XXY) • • Most common sex chromosome abnormality Phenotype

Common Chromosomal Abnormalities Klinefelter’s syndrome (XXY) • • Most common sex chromosome abnormality Phenotype male but one or more X chromosomes are present Incidence 1: 1, 000 males Nursing assessment – Males have some female-like features due to testosterone deficiency • Nursing management – Supportive, provide education, resources and support – Counseling about infertility, marriage and relationships – Ideally, XXY males should begin testosterone treatment as they enter puberty. XXY males diagnosed in adulthood are also likely to benefit from the hormone. A regular schedule of testosterone injections will increase strength and muscle size, and promote the growth of facial and body hair.

Characteristics of Klinefelter syndrome

Characteristics of Klinefelter syndrome

Fragile X Syndrome: X-linked Dominance with Reduced Penetrance • Second most common genetic cause

Fragile X Syndrome: X-linked Dominance with Reduced Penetrance • Second most common genetic cause of cognitive impairment after Down syndrome • Differs from X-linked recessive pattern • Abnormal gene on the lower end of the long arm of the X chromosome • More common in males; appears sometimes in females

Classic Physical Appearance of Fragile X Syndrome • Large head circumference, long face, prognathism

Classic Physical Appearance of Fragile X Syndrome • Large head circumference, long face, prognathism (promanent jaw), large ears, strabismus • Mitral valve prolapse • Hypotonia • Macroorchidism (large testes)

Classic Physical Appearance of Fragile X Syndrome (cont’d) • Palate—high arched • Hyperextensible finger

Classic Physical Appearance of Fragile X Syndrome (cont’d) • Palate—high arched • Hyperextensible finger joints, palmar crease • Flat feet

Classic Behavioral Features of Fragile X Syndrome • May have normal IQ with learning

Classic Behavioral Features of Fragile X Syndrome • May have normal IQ with learning difficulties or Mild to severe cognitive impairment • Delayed speech and language • Hyperactivity • Hypersensitivity • Autistic-like behaviors • Intolerance to change in routine

Therapeutic Management of Fragile X Syndrome • Serotonin agents—behavioral control • Stimulants for hyperactivity

Therapeutic Management of Fragile X Syndrome • Serotonin agents—behavioral control • Stimulants for hyperactivity (similar to ADHD management) • Protein replacement and gene therapy options being investigated • Referral to early intervention program • Prognosis: expected to live normal life span

Nursing Management of Child with Impaired Cognitive Function • Nursing Diagnoses: – Delayed Growth

Nursing Management of Child with Impaired Cognitive Function • Nursing Diagnoses: – Delayed Growth and Development r/t impaired cognitive functioning – Interrupted Family processes r/t having a child with cognitive impairment • Outcomes: – Child will achieve optimum: • Growth and development potential • Socialization – Family will: • Receive adequate information and support • Be prepared for long-term care of the child

Nursing Interventions • Perform a physical and developmental assessment • Assist with and explain

Nursing Interventions • Perform a physical and developmental assessment • Assist with and explain diagnostic tests • Educate child and family – – Managing stimulation Providing simple, one-step instructions Motivation and positive reinforcement Early intervention programs available in area

Nursing Interventions (cont. ) • • • Teach child self-care skills Promote child’s optimal

Nursing Interventions (cont. ) • • • Teach child self-care skills Promote child’s optimal development Encourage play and exercise Provide means of communication Establish discipline Encourage socialization – Inclusion – Camps – Special Olympics

Nursing Interventions (cont. ) • Provide information on Sexuality • Help family adjust to

Nursing Interventions (cont. ) • Provide information on Sexuality • Help family adjust to future care needs – At home – Day care – Long-term care • Teach Prevention to families/parents – Reduce risk factors: smoking, drugs, alcohol – Prenatal care – Early screening

Care During Hospitalization • Mutual participation model: working WITH parents to share child’s care

Care During Hospitalization • Mutual participation model: working WITH parents to share child’s care • Obtain a thorough assessment – Self-care abilities – Special devises needed: braces, equipment, etc. – Routines, unusual behaviors – Nutrition and eating, elimination – Play, special toys and activities

Care During Hospitalization • Explain procedures and treatments at child’s cognitive level • Work

Care During Hospitalization • Explain procedures and treatments at child’s cognitive level • Work in partnership with parents • Opportunity to learn and grow in areas of self-care and socialization

Other Genetic Disorders • Many genetic disorders occur in children and have lifelong effects

Other Genetic Disorders • Many genetic disorders occur in children and have lifelong effects • Thousands of genetic disorders are currently known and new ones are being discovered • The majority of these disorders are quite rare • Newborn screenings helps to identify these problems early so treatment may begin immediately

End of Presentation

End of Presentation