Case Study Seven: Escobar Syndrome
This case presents the care I provided for a 17 year old male who presented to a pediatric office with depression. The patient has a Health Maintenance Organization (HMO) insurance plan. The case addresses the following doctoral competency objectives:
Objective 1: Identification of a potential genetic risk or diagnosis of a genetic condition, an intervention for risk reduction for the individual and implications for the family.
Objective 8: Referral decisions, collaborative networking while maintaining primary responsibility for care, decision-making utilizing recommendations, patient follow-up and outcomes, including one consultation follow up.
Objective 12: Assessment and intervention for chronic pain or palliative care.
Objective 14: Assessment and intervention that incorporated cultural competent care and outcomes of that approach.
Patient Name: C.G.
Date of Birth: 5/2001
Date of Visit: 2/2018
DNP role: I am a family nurse practitioner and DNP resident seeing this patient for a scheduled sick visit in a pediatric office setting. The patient is greeted by the Medical Assistant who brings the patient and parent to a room, documents allergies and medication, and obtains a set of vital signs.
Site and setting: Pediatric office.
Reason for encounter: Scheduled sick visit, accompanied by his mother.
Informant: The history if provided by the patient and mother. Both appear to be reliable historians.
Reason for Visit/Chief Complaint: C.G. reports, “feeling sad and depressed.”
Allergies: No known drug or food allergies.
Flovent HFA 110 mcg/inhalation 2 puffs po bid
Albuterol MDI 90 mg/inhalation 2 puffs po bid every 4-6 hours prn
Ibuprofen suspension 100mg/5ml 15 ml po every 6-8 hours prn
Surgical History and Hospitalizations:
Diaphragmatic eventration repair 5/2001.
Respiratory distress with mechanical ventilation 5/2001.
Vertical talus repair of right foot /2001.
Left knee repair 7/2002.
Right knee repair 7/2003.
Fixator to right leg, left thumb joint repair, release of tendons in left hand 3/2009.
Bilateral external fixation of legs/ vertical expandable prosthetic titanium rib (VEPTR) rods to spine 7/2010.
Back surgery lengthening rods on spine 1/2012.
Back surgery lengthening rods on spine 10/2012.
Back surgery lengthening rods on spine 3/2013.
Asthma exacerbation with intubation 4/2014.
Respiratory distress 5/2015.
History of Present History:
C.G. has been feeling “sad and depressed” for the past five months. C.G. reports classmates are starting to date and he is “stuck in a wheelchair.” There are times in the morning when he does not want to get out of bed because he is sad. C.G. wants to be “a normal teen.” C.G. likes girls but “knows they would never go out with me”. Furthermore, his classmates are starting to look at colleges and drive cars and C.G. feels he “will never be able to do any of those things.”
The mother is worried about C.G. and does not know what to do. The mother reports C.G. has been through so much in his life and wants him to be happy but does not want him to have “expectations that he cannot meet.”
Medical History and Immunizations:
The mother reports that she had an uneventful pregnancy. She reports ultrasound at 20 weeks normal and “felt great during my pregnancy.” C.G. was induced at 42 weeks. Delivery was vertex with an episiotomy without forceps. Apgar of 2 at one minute, 6 at 5 minutes, 9 at ten minutes. C.G. had multiple congenital fractures involving the fingers, elbows, hips, knees, ankles, and positional foot abnormalities. There was a neuro cranial deformity and molding of the frontal bones under the parietal bones. Mother reports C.G. spent 23 days in Long Island Jewish Hospital where multiple consultations and studies were done and the diagnosis of Escobar syndrome was concluded. Parents were referred for genetic testing and C.G. was then transferred to Shriner’s Hospital in Philadelphia where he began early intervention which included extensive physical therapy. C.G. spent the first three years of his life in and out of Shriner’s Hospital where they specialized in Escobar syndrome. Mother continues to bring C.G. there for orthopedic follow up visits. C.G. is also followed by a Pulmonologist at Shriner’s Hospital and has remained stable on Flovent MDI and Albuterol inhalers for asthma. C.G. did have respiratory distress during the first six months of life and was on a respirator. He was weaned off and has done well per mother.
Immunizations are up to date (see table 1).
C.G. lives at home with his parents and 2 siblings. Parents are from Ireland and their children were born in America. No history of smoking in the household. No exposure to second hand smoke. C.G. is a senior in High School and has an overall B average. C.G. participates in math club and yearbook club after school and this year began acting in high school musicals.
For many years, C.G. missed a lot of school due to his multiple surgeries. He was tutored at home and received physical therapy and occupational therapy. As he became more independent and able to use a wheelchair, C.G. was mainstreamed into the school C.G. has many friends when he is at school but admits he has “no friends that want to hang out with him outside of school.”
Review of Systems:
General: No acute distress. Appears alert and orientated to time and place.
HEENT: Denies headache. Denies eye pain or eye discharge. Denies nasal congestion. Denies sinus pain. Denies sore throat. Denies ear pain. Denies seasonal allergies.
Neck: Denies lumps, goiter or neck pain. Denies neck stiffness.
Skin: Denies rashes or itching.
Cardiac: Denies chest pain. Denies palpitations.
Pulmonary: Admits to wheeze and cough controlled with use of inhalers.
Endocrine: Denies weight loss or weight gain.
Gastrointestinal: Denies abdominal pain. Denies vomiting. Denies diarrhea. Denies nausea.
Genitourinary: Denies painful urination or frequency. Denies decrease urinary output or hematuria.
Musculoskeletal: Admits to joint pain in all extremities. Denies joint swelling, discoloration or injury.
Neurology: Denies seizure activity.
Psychology: Admits to being sad and depressed.
Temp: 36.9 (98.4F)
Pulse: 94 bpm
Resp: 16 bpm
Weight: 77 lbs. (weight percentile 1.27%).
Height: 54.25 inches (height percentile 1.01%).
BMI: 16.98 (BMI percentile 1.56%).
General: C.G. appears well-groomed, neatly dressed, pleasant. In wheelchair.
HEENT: Flat head with prominence of the left occipital parietal area. Pupils equal, round, and reactive to light. Down-sloping palpebral fissures with vertical epicanthic folds. Extraocular movements intact, without redness or drainage. Left and right tympanic membranes pearly grey, with good light reflex, bilaterally. No nasal discharge. Pharynx clear.
Neck: Short webbed neck. Restricted neck flexion.
Cardiovascular: Normal sinus rhythm. S1, S2 intact. No murmurs, rubs, clicks, or gallops.
Lungs: Clear to auscultation. No rales, no rhonchi, no expiratory wheeze.
Abdomen: No hepatomegaly. Abdomen soft, non-tender, and non-distended. Bowel sounds heard in all four quadrants.
Extremities: Contractures of all extremities with limited ROM. Severe scoliosis. Able to stand from wheelchair and take 4 steps without assistance.
Skin: 2 cm scar on left hand. 3 cm scar on right hand. 3 cm scar on left index finger. 3 cm scar on right index finger. 4 cm scar on left elbow. 4 cm scar on right elbow. 7 cm scar medial aspect of right knee. 7 cm scar medial aspect of left knee. 12 cm scar cervical area on spine. 12 cm scar x 2 on lumbar area of spine.
Neurology: Cranial nerves II-VII intact with no focal deficits.
Psychology: Appears unhappy and sad.
Assessment with ICD-10 codes:
Screening Tool for Depression in office C.G. was given in office to complete:
Has there been a time in the past month when you had serious thoughts about ending your life? NO
Have you ever in your whole life, tried to kill yourself or made a suicide attempt? NO
Total Score: 17
Table Results: Depression Severity
0-4 No or minimal depression
5-9 Mild depression
10-14 Moderate depression
15-19 Moderately severe depression
20-27 Severe depression
The American Academy of Pediatrics (AAP) has developed a screening tool that primary care providers can use to assess a patient age 12 to 21 years for depression. This depression screen is recommended yearly to teenagers in this age group (AAP, 2018).
CEBM, Level 5.
This is a 17 year old with the diagnosis of Escobar syndrome with depression and chronic pain (Objective 1 and Objective 7).
Escobar syndrome is a rare genetic disorder that is characterized by mutations in the cholinergic receptor nicotinic gamma subunit (CHRNG) gene. The CHRNG gene provides instructions for making the gamma protein component of the acetylcholine receptor protein. This protein is found in the membrane of skeletal muscle cells and is critical for signaling between nerve and muscle cells (Morgan, 2006).
CEBM, Level 1b.
Advances in research and the delivery of health care have reduced mortality from disease and extended life expectancy. Those who would have died from their condition may now survive but there is the emotional cost of long term treatment and medical surveillance to consider. Such patients must cope with a chronic condition and yet the emotional dimensions can be overlooked when medical care is considered. It can be difficult to diagnose depression in the medically compromised patient but diagnosis and treatment is essential (Turner & Kelly, 2000).
CEBM, Level 2a.
Children may experience physical and psychological sequelae and their families may experience emotional and social consequences as a results of pain and associated disability. Longitudinal studies provide evidence that childhood chronic pain predisposes both for continuation of chronic pain and the development of new forms of chronic pain in adulthood (Woolf, 2011).
CEBM, Level 2b.
My plan for C.G. is to be happy and to live a life without pain. The plan will be to refer C.G. to a therapist and a psychiatrist for depression and to refer C.G. for pain management and palliative care (Objective 8).
Current estimates suggest that up to one in four children will have an episode of chronic pain lasting three months or longer. This type of persistent pain is linked to significant physical, psychosocial, and psychological burdens for children and families (King et al., 2011).
CEBM, level 1b.
The treatment of chronic pain is not a one-size fits all solution and it is unlikely that a single intervention strategy will systematically work for all children with pain. The goal with intervention strategies is to understand how we can maximally apply skills and strategies to cope with pain and reduce the stress and psychosocial burden for children and parents (King et al., 2011).
CEBM, level 2c.
After discussing my evaluation and treatment plan to C.G. and his mother, the mother reports she had no idea C.G. was feeling this way. C.G.’s mother assumed physical and occupational therapy C.G. is receiving is enough for his pain. She reports that C.G. never complained to her about feeling sad or being in constant pain. The mother reports her daily prayer for C.G. would heal him. In her Catholic faith and Irish culture mom explained to me, “prayer will heal all.” Over the past two years C.G. was sent by his mother to a Shrine in France to receive prayer and healing. The mother reports the Shrine of Our Lady of Lourdes in southern France is a popular pilgrimage destination for individuals with special devotions to Mary and for those seeking miraculous healings. C.G.’s mother is hoping he will be cured and will walk again. The mother reports she will continue to pray for C.G. given her strong cultural background of prayer and devotion to God (Objective 14).
Prayer is an activity relate to spirituality and religion in many cultures. Positive outcomes have been identified regarding spirituality in health. Studies investigating the effects on patients’ health with the use of prayer was researched. A systematic literature review found prayer to be considered a positive factor in seven studies, and several positive effects of prayer on health were identified: reducing anxiety of mothers of children with disabilities, reducing a level of concern of the participants who believe in a solution to their problem, and providing for the improved physical functioning of patients who believe in prayer (Simao, Caldeia, & Campos, 2016).
CEBM, Level 1b.
C.G. and the mother agreed to a treatment plan that would help C.G. with his sadness and chronic pain. I did explain to mom I respect her cultural beliefs and I would respect her wishes. However, C.G. is my patient and I would like to continue prayer and incorporate other treatment options for C.G. including behavioral therapy and palliative care. C.G. was pleased and expressed his happiness to me and his mother for the help he was going to receive. C.G. reports having a special relationship with God and I would want that to continue.
With permission form C.G.’s mother I contacted Shriner’s Hospital in Philadelphia. I spoke with a social worker who was familiar with C.G. and his family. The social worker was pleased that he was doing so well. However, surprised that C.G.’s mother had not brought C.G. to a psychiatrist. The social worker reports the mother refused behavioral intervention at Shriner’s Hospital for C.G. The social worker recommended a support group and a psychiatrist at New York Presbyterian Hospital who specializes in Escobar Syndrome. I contacted the physician at New York Hospital and made appointment for C.G. Mom agreed to bring C.G to the appointment. After the initial visit with the psychiatrist, group therapy and family therapy can be implemented into the treatment plan (Objective 10).
It is essential to diagnose and treat depression in patients with chronic conditions. Even mild depression may reduce a person’s motivation to gain access to medical care and to follow treatment plans. Depression and hopelessness also undermine the patient’s ability to cope with pain and may exert a destructive effect on family relationship. Depression in patients with a medical illness has been linked to adverse physical outcomes and increases in disability (Turner & Kelly, 2000).
CEBM. Level 1b.
I contacted United Hospice of Rockland regarding palliative care services for C.G. to focus on providing relief from pain in order to improve his quality of life and to provide support to compliment his care. A nurse who specializes in medical rehabilitative care has agreed to assess C.G. and his family for services (Objective 12).
Palliative care is aimed at improving the quality of life for patients and their families who are confronted with illness or disability by providing support and care for pain, physical symptoms, psychological and social stress, and spirituality. Pediatric palliative care encompasses the same goals as adult palliative care, but focuses specifically on serving the unique needs of the child and family (Wiener, McConnell, & Latella, 2013).
CEBM, Level 1b.
Telephone encounter follow up (8 weeks later):
I received a consultation follow up call from Dr. Rapaport from New York Presbyterian Hospital regarding C.G. Dr. Rapaport is a psychiatrist who is treating .G. depression and prescribed Prozac 20 mg po once a day. He reported to me C.G. and his parents had a therapy session together and he is hopeful that the family will learn how to best meet the needs of C.G. Dr. Rapaport reported to me C.G. is the oldest patient he has treated with Escobar syndrome. He was impressed with how C.G. is managing his disability and wanting to go off to college, learn to drive, and become more social. Dr. Rapaport will continue to provide care for C.G. and his family (Objective 8).
Families have a significant influence on a child’s mental health. Family therapy is a treatment modality that can be used alone or in combination with other treatments. Family therapy focuses on the relational and communication process of families in order to work through clinical problems, even though the patient may be the only family member with the psychiatric diagnosis (Broderick & Weston, 2009).
CEBM, Level 2c.
|Drug: Albuterol (Proventil HFA)
Dose Range: MDI: 90 mcg per actuation
Method of administration: Inhalation
Mechanism of Action: Selectively stimulates beta-2 adrenergic receptors, relaxing airway smooth muscle.
Clinical uses: To prevent and treat wheezing and shortness of breath caused by breathing problems (asthma and chronic obstructive pulmonary disease).
Common: throat irritation, cough, tremor, dizziness, nervousness, headache, palpitations, tachycardia.
Serious: Bronchospasm, anaphylaxis, hypersensitivity, hypotension, angina, cardiac arrest, arrhythmia, hyperglycemia.
Drug: Flovent HFA
Dose Range: MDI: 44 mcg per actuation, 110 mcg per actuation, 220 mcg per actuation.
Method of administration: Inhalation
Mechanism of Action: Exact mechanism of anti-inflammatory action unknown; inhibits multiple inflammatory cytokines, produces multiple glucocorticoid and mineralocorticoid effects.
Clinical uses: To control and prevent symptoms (such as wheezing and shortness of breath) caused by asthma.
Common: headache, throat irritation, candidiasis (oral), cough, hoarseness, nausea, arthralgia, rash, pruritus.
Serious: Anaphylaxis, bronchospasm, adrenal suppression, growth suppression, hyperglycemia, cataracts, osteoporosis.
Drug: Motrin (Ibuprofen)
Dose Range: Dose based on weight. 10mg per kg of body weight every 6-8 hours as needed up to 40 mcg per kg per day.
Method of Administration: Oral
Mechanism of Action: Exact mechanism of action unknown; inhibits cyclooxygenase, reducing prostaglandin and thromboxane synthesis.
Clinical uses: To reduce fever and treat pain or inflammation.
Common: Dyspepsia, nausea, abdominal pain constipation, headache, dizziness, rash, fluid retention, rash.
Serious: GI bleeding, stroke, ulcer, hypertension, myocardial infarction, congestive heart failure, thromboembolism, Stevens-Johnson syndrome.
Drug: Prozac (Fluoxetine)
Dose Range: 20mg to 80 mg per day
Method of Administration: Oral
Mechanism of Action: Selectively inhibits serotonin uptake.
Clinical uses: Depression, anxiety, obsessive compulsive disorder.
Common: Insomnia, nausea, headache, diarrhea nervousness, dizziness, constipation, rash.
Serious: Suicidality, depression exacerbation, QT prolongation, glaucoma, seizures.
American Academy of Pediatrics. (2018). American Academy of Pediatrics Publishes Teen Depression Guidelines that Eqip Physicians to Tackle Mental Health Issues. Retrieved from https://www.aap/org/en-us/about-the-app/aap-press-room/AAP-Publishes-Teen-Depression-Guidelines.aspx
Broderick, P., & Weston, C. (2009). Family therapy with a depressed adolescent. Psychiatry, 6(1), 1-10. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2710446/
Epocrates. (2013). Epocrates Essentials for Apple iOS (version 5.1). Retrieved from https://www.epocrates.com/mobile/iphone/essentials
King, S., Chambers, C., Huguent, A., MacNevin, R., McGrath, P., Parker, L., & McDonald, A. (2011). The epidemiology of chronic pain in children and adolescents: A systematic review. Pain, 152, 2729-2738. http://dx.doi.org/10.3390
Morgan, N. (2006). Mutations in the embryonal subunit of the CHRNG cause lethal and Escobar variants of multiple pterygium syndrome. American Journal of Human Genetics, 79, 390-395. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559492/
Simao, T., Caldeia, S., & Campos, E. (2016). The effect of prayer on patients’ health: Systematic literature review. Religions. http://dx.doi.org/10.3390/rel7010011
Turner, J., & Kelly, B. (2000). Emotional dimensions of chronic disease. Western Journal of Medicine, 172. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1070773
Wiener, L., McConnell, D., & Latella, L. (2013). Cultural and religious considerations in pediatric palliative care. Palliative Support Care, 11. http://dx.doi.org/10.1017/S14789511001027
Woolf, C. J. (2011). Central sensitization: Implications for the diagnosis and treatment of pain. Pain, 152. http://dx.doi.org/10.1016/j.pain.2010.09.030
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