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ANGELMAN SYNDROME

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ANGELMAN SYNDROME

  1. 1. Angelman Syndrome Pediatric Case Study By Ximena R. Rice
  2. 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. 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. 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)
  5. 5. Genetic Mechanisms (1)
  6. 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. 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. 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. 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
  10. 10. Angelman Genetic Make-up (1)
  11. 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. 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. 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. 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. 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. 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.

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