This case study describes a 7-year-old Hispanic female diagnosed with Angelman Syndrome. She was born with hypotonia and developmental delays. She was initially misdiagnosed with Prader-Willi Syndrome but was later correctly diagnosed with Angelman Syndrome after experiencing seizures at age 3. Angelman Syndrome is a genetic disorder caused by a deletion or mutation on chromosome 15. She exhibits many characteristics of the syndrome including severe intellectual and developmental disabilities, lack of speech, balance and coordination issues, and hyperactivity.
This presentation covers topics such as history, prevalence, genetics, diagnosis and treatment for Angelman Syndrome (AS). With more emphasis on the genetics, this presentation will explain how maternal 15q deletion and/or paternal disomy leads to the "puppet-like" features which are exclusive for AS. Hope you will get enough information from the slides about AS. (This is a presentation that was done with the help of my classmate Sindhu J. R., initially for her class presentation.)
This presentation covers topics such as history, prevalence, genetics, diagnosis and treatment for Angelman Syndrome (AS). With more emphasis on the genetics, this presentation will explain how maternal 15q deletion and/or paternal disomy leads to the "puppet-like" features which are exclusive for AS. Hope you will get enough information from the slides about AS. (This is a presentation that was done with the help of my classmate Sindhu J. R., initially for her class presentation.)
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.shhhoaib
-FXS is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of mental retardation.
- It is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome.
- Resulting in a failure to express the fragile X mental retardation protein (FMRP).
-FMRP is required for normal neural development.
-Absence of FMRP leads to abnormalities in brain development and function.
Common genetic disorders are very common and medical professionals should understand in brief about significant disorders.
which may enable them to achieve a better role in genetic counselling.
Mitochondrial disease includes a group of neuromuscular diseases caused by damage to intracellular structures that produce energy, the mitochondria; disease symptoms usually involve muscle contractions that are weak or spontaneous.
Leber's hereditary optic neuropathy (LHON)
Leigh syndrome,
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
KSS – (Kearns-Sayre Syndrome)
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.shhhoaib
-FXS is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of mental retardation.
- It is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome.
- Resulting in a failure to express the fragile X mental retardation protein (FMRP).
-FMRP is required for normal neural development.
-Absence of FMRP leads to abnormalities in brain development and function.
Common genetic disorders are very common and medical professionals should understand in brief about significant disorders.
which may enable them to achieve a better role in genetic counselling.
Mitochondrial disease includes a group of neuromuscular diseases caused by damage to intracellular structures that produce energy, the mitochondria; disease symptoms usually involve muscle contractions that are weak or spontaneous.
Leber's hereditary optic neuropathy (LHON)
Leigh syndrome,
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
KSS – (Kearns-Sayre Syndrome)
Speech Therapy Considerations with Angelman SyndromeRita Molino
Presentation to SLP Grad students and University of Buffalo. The two foundational beliefs: ALWAYS PRESUME COMPETENCE AND INTELLIGENCE IS NOT ONE DIMENSIONAL
Case#1A 24-year-old male graduate student without prior medical .docxtroutmanboris
Case#1
A 24-year-old male graduate student without prior medical or psychiatric history is reported by his mother to have been very anxious over the past 6 months, with increasing concern that people are watching him. He now claims to “hearing voices,” telling him what must be done to “ fix the country.” Important workup ? thyroid-stimulating hormone TSH, rapid plasma reagain (RPR), and brain imaging.
Questions:
1. What is the diagnosis of this patient?
2. What is the age onset of this disorder?
3. What socioeconomic group suffers from this disorder?
4. What is the subtype of this disorder in this patient ?
5. List five positive and negative symptoms that we can find in schizophrenia disorder>
6. What is the treatment?
7. What are five characteristics associated with better prognosis?
Case#2
Ms. Torrez is a 17-year-old Caucasian woman without prior psychiatric history who is brought to the Emergency room by ambulance after her parents called 911 when they found her having a seizure in their living room. She was admitted to the medical intensive care units in status epilepticus and was quickly stabilized with intramuscular lorazepam and fosphenytoin loading. Her heigh is 5 feet 6 inches, she is of medium build, and her weight is 101 lbs. (BMI16.3kg/m2). She does not suffer any medical conditions, and this is her first seizure. Laboratory workup shows an electrolyte imbalance as the most likely cause of the seizures. Although initially reluctant, she admits to purging with the use of ipecac several times this week. She reports that although she normally restricts her daily caloric intake to 500 calories, she regularly induces vomiting if her weight is above 100 lbs. Her last menstrual cycle was 1 year ago. Psychiatric consultation is requested in order to confirm the diagnosis
The on-call psychiatry notes in Terry’s chart
Patient appears underweight and younger than her stated age. She is mild distress, has a nasogastric tube in place, and exhibits poor eye contact. She reports feeling “sad” and admitted to experiencing constant preoccupation about her physical appearance and says, “I am fat; I hate my body.” She also reports insomnia, low energy levels, and history of self-harm behavior by cutting her forearms. She reports that she is careful hiding her symptoms from her parents, whom she describes as strict disciplinarians. She also expresses concerns that she will disappoint them.
Ms. Torrez’ parents describe her as a perfectionist. They say that she is involve in multiple school activities, takes advanced placement classes, and has been recently concerned about being accepted at her college of choice. They report that she maintains a 4.0 grade point average in high school, and they are expecting her to become a lawyer. Her parents have noticed that she is underweight and rarely see her eat but attributed this to stress from her many academic pursuits. Ms. Torrez’ mom was diagnosed with obsessive-compulsive disorder.
Qu.
Chapter 44 The child with a neuromuscular disorderCase 1 Pamel.docxrobertad6
Chapter 44: The child with a neuromuscular disorder
Case 1: Pamela Souza, 6 years old, was born with cerebral palsy. Pamela suffers from general spasticity, mental impairment, impaired vision and hearing, and hydrocephalus. She has been admitted to the pediatric unit for evaluation of intrathecal spasticity control.
A. Identify medications that might be used to help control Pamela’s spasticity?
Medications that can be used to control Pamela’s spasticity include; Baclofen, Tizanidine, Dantrolene sodium, Diazepam, Clonazepam, and Gabapentin.
B. What information would the nurse include in the health history?
C. Gestational and perinatal events
D. History of head trauma
E. Feeding and weight loss
F. Seizure activity
G. Respiratory status: Has a cough, sputum production, or increased work of breathing developed?
H. Motor function: Has there been a change in muscle tone or increase in spasticity?
I. Presence of fever
J. Any other changes in physical state or medication regimen
K.
The following is the information that the nurse is expected to include in the health history regarding Pamela; history of head trauma, gestational and perinatal events, find out if the baby is She is 6yo..not a baby
feeding well and also identify any weight loss, seizure activity, indicate the respiratory status of the child including any coughs, sputum production, or increased work of breathing development, presence of fever, any changes in physical state or medication regimen, and motor functions of the baby(Perry et al., 2017).
L. What nursing interventions would be important in Pamela’s care?
The best nursing interventions that best suit Pamela’s case include;
· Assisting with the administration of baclofen
· Assessment of spasticity before and after administration of medication
· Preoperative care and teaching
· Postoperative care and teaching
· Emotional support for Pamela and her family
· The nurse should teach the parents about the programmable delivery system, frequent checks and how to adjust dose and programming.
· If the patient is eligible for baclofen, the nurse should give it with caution to prevent hallucinations, possible psychosis, or any other serious effects and also bare in mind that abrupt discontinuation may lead to other serious reactions.
· Strengthen family support – teach the patient’s family on how to treat and interact with her at home so that she feels supported.
· The nurse should also prevent deformity, encourage mobility, increase oral intake of fluids, manage rest and sleep periods, enhance self care, and facilitate communication.
M. What information would be important to include in a teaching plan for Pamela and her family?
N. Information about the type of pump being inserted and how it works
O. Information and expectations about intrathecal baclofen treatment
P. Daily care of the surgical incisions
Q. Notify the physician or nurse practitioner if the child has a temperature greater than 101.5ºF, or if the child has persisten.
Chief compliant(CC) Joshuas hyperactive and attentional difficultJinElias52
Chief compliant(CC) Joshua's hyperactive and attentional difficulties have been exhibited both at school and at home.
HISTORY: Joshua is a Hispanic or Latino 10-year-old boy. This evaluation was requested because
mother is worried about patient's aggressive behavior toward his younger brother and ADHD
symptoms. Mother report that patient was diagnosed at age 6 by pediatrician with ADHD,
medication was started at that time (mother unable to remember name) until age 9. Mother stopped
administering medication because it caused decrease appetite, insomnia and weight loss. Patient
is not currently taking any medication at this time.
Behavior Described In:
Symptoms/ behavior Joshua exhibits symptoms of inattention. He reports difficulty sustaining attention. His mind
wanders or he forgets. He does not seem to listen when spoken to directly. He often needs
directions repeated. Joshua is easily distracted by noises. by the radio. by other people. Joshua
needs supervision or frequent redirection. He has a short attention span.
Joshua exhibits signs of hyperactivity. He exhibits restlessness or fidgety behavior. This
behavior is evident during school hours. He tends to frequently leave his seat. He is
easily bored and changes activities frequently. Joshua 's excessive movement has been noted. He
is fidgety or squirms when required to sit still for a period of time. He frequently jumps or climbs.
Joshua exhibits signs of impulsive behavior. He frequently interrupts others. He often acts
in a reckless manner. He has difficulty accepting limits.
Joshua has other exhibited symptoms.
He exhibits stubborn or willful behavior.
EXAM: Joshua appears flat, inattentive, distracted, normal weight, He exhibits speech that is
normal in rate, volume, and articulation and is coherent and spontaneous. Language skills are
intact. Affect is appropriate, full range, and congruent with mood. Associations are intact and
logical. There are no apparent signs of hallucinations, delusions, bizarre behaviors, or other
indicators of psychotic process. Associations are intact, thinking is logical, and thought content
appears appropriate. Suicidal ideas or intentions are denied. Homicidal ideas or intentions are
denied. There are signs of anxiety. A short attention span is evident. Judgment appears to be
poor. Insight into problems appears to be poor. He is easily distracted. Joshua is restless. Joshua is
fidgety. There is physical hyperactivity. Joshua displayed defiant behavior during the examination.
Joshua made poor eye contact during the examination. Vocabulary and fund of knowledge indicate
cognitive functioning in the normal range. Cognitive functioning and fund of knowledge are intact
and age appropriate. Short- and long-term memory are intact, as is ability to abstract and do
Assignment 2: Comprehensive Psychiatric Evaluation and Patient Case Presentation
Comprehensive psychiatric evaluations are a way to reflect on your practicum experiences and connect the experiences ...
Week 5 Focused SOAP Note and Patient Case Presentation Cosamirapdcosden
Week 5: Focused SOAP Note and Patient Case Presentation
College of Nursing-PMHNP, Walden University
NRNP 6675: PMHNP Care Across the Lifespan 2 Practicum
Introduction
Psychosis is a mental condition in which a person's ideas and perceptions are disrupted,
and the individual may have difficulty distinguishing between what is real and what is not.
A health condition, medications, or drug usage can all contribute to psychosis. Delusions,
hallucinations, incomprehensible speech, and agitation are all possible signs; the patient has
incorrect beliefs and sees or hears things that others do not see or hear. The person suffering from
the disease is usually unaware of his or her actions. Medication, psychotherapy, peer support,
family support and education, and talk therapy are all options for treatment. More or less every
mental intervention is backed by evidence accumulated during the patient's initial interview; each
patient's therapy begins with a thorough medical and mental health evaluation, the incorporation
of trust, and a discussion of past mental health history, substance misuse history, family mental
health history, and so on. In this example, the patient's evaluation was documented, and a
diagnosis was made based on the information collected from the patient during the evaluation.
When the case was being developed, a therapeutic approach was designed. The patient is a 53-
year-old Caucasian male who was scheduled for an initial screening for a psychotic disorder after
his sister recommended a visit to the psychiatrist because patient's behavior changed since the
mother passed away.
Patient Initial: S.T Age: 53 Gender: Male
Subjective Data:
CC: "I was brought here by my sister because since my mother passed away, I was living on my
own and not bothering anyone. Those people outside my window they are after me. They just
want me dead".
HPI: When patient was asked " what people?". Patient said " the government sent them to get
me because my taxes are high". Suddenly patient asked the provider if she can see the birds or
hear any loud noise. The provider responded by redirecting the patient that she does not hear any
voice or see anything. When the provider how long he is been hearing the voices or seeing
things, patient said " for weeks, weeks and weeks". Patient also said the sister tapped her phone
with the government. When asked about sleep, patient said " I have not slept well because the
voices keep me up for days. I try to watch the TV, they poison my food on TV, I locked
everything down in the fridge". Suddenly patient asked " Can I smoke?". Provider said "no you
can't smoke here". Patient admit that he smokes all day about 3 packs a day. Drinks alcohol
which his sister purchased for him to last him for weeks. Patient denies use of drugs. Admit to
history of marijuana use 3 years ago before the m ...
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.