2. Abstract:
P.P. is a 7 y/o Hispanic female with parents whom are blood relatives. P.P. was
born at 41 weeks of gestation through an uncomplicated vaginal delivery. She
was born with Hypotonia, had some feeding difficulties and was diagnosed
early with failure to thrive in San Diego, California where she was born. Due to
marked developmental delays her pediatrician sent her for genetic counseling
and was misdiagnosed with Prader-Willi syndrome on 07/29/2009. Prader-Willi
is a genetic anomaly where the 15th paternal chromosome is missing/inactive or
there are two maternal 15th chromosomal alleles and no contribution from the
father. She was sent for treatment to St. Mary’s, where through extensive
therapy she was able to walk. However when she seized at 3 years of age
they hospitalized her to run a CT scans to evaluate the extent of the damage
and was sent for further DNA analysis since epilepsy is not part of Prader-Willi
syndrome, they diagnosed her with Angelman syndrome. She has an array of
illnesses, some part of and others are in addition to her syndrome. She has
congenital hypothyroidism, club foot, asthma, allergic rhinitis with asthma
(without status asthmaticus), spina bifida occulta diagnosed 07/16/2010,
Hypotonia, developmental delays and is considered obese with weight of 63
pounds and a height of 42 inches in length which is a BMI of 25.1. She was
hospitalized due to an uncontrolled seizure disorder. She was under-
medicated by her mother due to a language barrier.
3. Psychosocial Developmental Stage
Erikson: Industry Vs. inferiority
Positive outcome: Industry
The child achieves a sense of accomplishment by learning to
use his/her energies to create, develop and manipulate. (3)
Negative outcome: Inferiority
Disappointment in own abilities, loss of hope and a sense of
inadequacy. (3)
4. Angelman Syndrome: Etiology and Characteristics
It is a genetic anomaly that is caused by the absence of the maternal
allele of chromosome 15th discovered by British pediatrician Harry
Angelman (1915-1996).(6) Classic features for this syndrome include:
Developmental delay
Mental retardation
Severe speech and language impairment
Problems with movement, coordination and balance
Happy, laughing demeanor
Hand-flapping behaviors
Hyperactivity with short attention span
Short sleep cycles
Epilepsy
Scoliosis is common (Behrman et al., 2007) (5)
6. Growth and Development: Physical Characteristics
Expected Manifested Variance from norm
Ability to perform ADLs Unable to care for self Severe delay, usually attained by age 4.
Bowel/bladder continent with ability
to cleanse self appropriately.
Wears diapers and
unable to wipe self.
Severe delay, usually achieved by age
3.
Able to walk, run, jump, play
organized sports.
Unable to walk without
gait belt.
Severe delay, usually walking by 18
months, jumping by age 3 and
organized sports around age 6.
Ability to coordinate movement and
balance.
Very slow, highly un-
coordinated movements.
Unable to maintain
balance without aide.
Severe delay, usually done by age 3.
Abnormality usually is first noticed by
the 6th month well-baby check-up since
by then baby was unable to hold head
up for long periods of time much less
sit-up with support.
Isotonic musculature. Hypotonic musculature. Abnormal since birth for this child since
it is part of the clinical manifestation of
this syndrome.
7. Growth and Development: Ascribed Vs Achieved
At 6 – 12 years old this child should be mastering concrete operations.
She would learn that she is not always right (no longer egocentric). She
should have greater ability to concentrate and participate in self-initiating
quiet activities that challenge cognitive skills such as: reading, playing
computer games and board games. Her vocabulary should be > 3000
words. She should have the ability to handle complex sentences. She
should want to do things; constant activity. Competition would be
important. Should have play groups, as team sports are important. Safety
would be reinforced. She would fear body mutilation and may have
recurrent nightmares and fear of death. (3)
This child was still in the oral stage according to Sigmund Fraud’s
psychosexual development. Her fine motor skills were underdeveloped.
She was able to drink from a cup, but not by herself. She does not speak
more than 10 words. She has stranger anxiety, temper tantrums and uses
a pacifier to self-soothe. Her developmental delay is profound.
8. Medical Diagnosis: Angelman Syndrome
Clinical manifestations in this child:
Hypotonic since birth.
Developmental delay noted at first well-baby check-up.
Mental retardation observed within the first year of life.
Severe speech and language impairment observed as early as 18
months.
Problems with movement, coordination and balance evident by 6
months of age.
Happy, laughing demeanor since birth.
Hyperactivity with short attention span was evident early, but was
observed until the age of 4 years old because they hoped she would
grow out of it.
Epilepsy: first seizure by the age of 3 years old and was
hospitalized and subsequently diagnosed with Angelman syndrome.
9. Medical Diagnosis: Angelman Syndrome
Diagnostic testing:
Parental DNA testing (methylation test)
Missing chromosome (Fluorescence in situ hybridization FISH or Comparative
Genomic Hybridization CGH test)
Genome sequencing (UBE3A gene sequencing) (4)
Care Team:
Pediatrician
Geneticist
Neurologist
Visiting Nurse
PT/OT
Respite support for family
11. Nursing Diagnoses:
The nursing diagnoses that I chose for this patient are:
Primary:
Impaired physical mobility related to alteration in cognitive function, developmental
delay and decrease in: muscle control, muscle mass, and muscle strength as
evidenced by alteration in gait, decreased gross/fine motor skills, postural instability,
slowed, spastic and uncoordinated movements. (2)
Others:
Ineffective health maintenance relate to ineffective communication skills as evidenced by
mother’s language barrier (Spanish speaking only) causing under medication of patient. (2)
Bowel incontinence related to generalized decrease in muscle tone as evidenced by patient’s
decrease in muscle control. (2)
At risk for ineffective cerebral tissue perfusion related to neurological condition (seizure
disorder). (2)
At risk for injury related to alteration in cognitive functioning and tissue hypoxia. (2)
12. Expected Outcomes
Patient’s mother will ask for assistance anytime she time she needs to
position, transfer, toilet or provide care to the patient to ensure patient/family
safety.
Gait belt will be used to transfer patient in and out of bed.
Patient will maintain fluid and electrolyte balance through adequate
intravenous fluid perfusion until she is able to resume PO intake.
Patient will be on seizure precautions to avoid injury throughout hospital stay.
Patient will remain NPO until Valporic acid levels reach therapeutic range.
Patient will remain without injury during hospitalization.
Hypotonia will be improved by constant PT/OT in order to provide patient
with the highest level of physical mobility that can be acquired with her
condition.
13. Implementations
Interventions:
Monitor vital signs and capillary refill as per hospital policy.
Rationale: we monitor vital signs to ascertain the patient’s status
and level of cardiovascular perfusion. All vital signs should be
compared to the patient’s baseline to evaluate changes in patient’s
condition.
Monitor intake and output.
Rationale: patient is not receiving anything by mouth except
medications and a sip of water to swallow the medication. IVF are
being administered. In order to see if there is adequate renal
function and to prevent over/under-hydration one must evaluate how
much she is receiving and how much she is voiding.
14. Implementations
Interventions:
Monitor labs for Valporic acid therapeutic levels.
Rationale: the levels of Valporic acid need to be maintained in
therapeutic range in order for the patient to have adequate
treatment of epilepsy. If levels are low patient may still experience
break through seizure activity; however, if levels are too high toxicity
may occur.
Evaluate patient for side affects/adverse reactions to
medications.
Rationale: although patient has been receiving Valporic acid for 4
years, that does not mean that she may not experience
hypersensitivity to the medication or other side effects/adverse
reactions. In addition, careful monitoring is also recommended
since she may receive new medications during her hospital stay that
may interfere with the absorption, metabolism or excretion of
Valporic acid which can be hazardous to the patient’s health.
15. Implementations
Interventions:
Encourage the patient and her family to verbalize their
feelings.
Rationale: Although the patient has profound developmental delays
and mental retardation, she is still the patient. People with
disabilities need to feel empowered by their care team. Talking with
the patient and allowing ample time for her to answer increases her
self-esteem, vocabulary as well as shows her respect as an
individual. Allowing her family to have a safe place to express their
feelings of loss and frustration with the child’s illness is a proactive
way to prevent child abuse or neglect.
16. Reference
Bing.comhttp://www.bing.com/images/search?q=angelman+syndrome+chromosome+15+
picture&id=61C398C0B7DBDE06CAD4290BAF5D80585AAD2ABA&FORM=IQFRBA
Herdman, T. H., and Kamitsuru, S. (Eds.). NANDA International, Inc. Nursing Diagnoses:
Definitions & Classification 2015 - 2017. (10th Ed.). 2014. Oxford: Wiley Blackwell.
Hidle, U., and Dillon, P. Growth and Development: Infant, Toddler Through School Age.
2013. New York: LaGuardia Community College.
Mayo Clinic website. December 5, 2014. http://www.mayoclinic.org/diseasesconditions/
Angelman-syndrome/basics/tests-diagnosis/con-20033404.
Rudd, K., and Kocisko, D. Pediatric Nursing: The Critical Components of Nursing Care.
(1st Ed.). 2014. Philadelphia: F.A. Davis.
Venes, D. Taber’s Cyclopedic Medical Dictionary. (22nd Ed.). 2009. Philadelphia: F. A. Davis.
