Kabuki Syndrome: A Challenge for the Primary Care Provider

1. Kabuki Syndrome:A Challenge for the Primary Care Provider Bonnie Crane, RN, BSN University of Nevada, Las Vegas

2. Presentation Objectives • Define Kabuki Syndrome (KS) • Examine the patient’s pathophysiology • Review a mid-range nursing theory used as a foundation in care • List the different roles of the APN • Discuss interventions and health promotion • Identify ethical, social, and financial issues

3. What is Kabuki Syndrome (KS)? • First described in 1981 by Dr Niikawa and Dr Kuroki • Facial resemblance to actors in Japanese Kabuki theatre (Niikawa & Kuroki, 1981)

4. What is Kabuki Syndrome (KS)?Cont. • Multiple congenital anomaly mental retardation syndrome • Characterized by distinguishing facial features (Schmiedge, 2009)

5. Facts About KS • 350 known cases worldwide • 1 out of 32,000 births • Male to female ratio 1:1 • New mutation with each patient • No prenatal screening or genetic test (Morris, 2007)

6. KS Confirmed with Facial Features • Long palpebral fissures • Lower palpebral eversion • Long eyelashes • Blue sclerae • Ptosis • Cleft lip/palate or arched palate • Dysmorphic ears • Preauricular pits Photos courtesy of Kabuki Syndrome Network, (Schmiedge, 2009)

7. Musculoskeletal Features • Post natal growth deficiency • Cranial abnormalities • Syndactyly • Prominent fingertip pads • Low posterior hair line • Vertebral abnormalities (Morris, 2007)

8. Intellectual and Behavioral • Delay in speech • Mild to moderate intellectual disability • Sensory issues • Anxiety, obsessive-compulsive traits • Autistic-type behaviors (Schmiedge, 2009)

9. CardiacDefects • Ventricular septal defect (VSD) • Atrial septal defect (ASD) • Coarctation of the aorta (Upton, et al. 2003)

10. Hearing Loss • Chronic otitis media • Related to cleft palate • Abnormal development of the Eustachian tube (Schmiedge, 2009)

11. Neurological Disorders Seizures Hypotonia (Schmiedge, 2009)

12. Immunity and Blood disorders • More susceptible to respiratory and/or ear infections in early childhood years • Idiopathic thrombocytopenic purpura (ITP) • Autoimmune hemolytic anemia • Polycythemia • Hypogammaglobulinemia (Morris, 2007)

13. Patient’s Family History

14. Family Risk Factors • Mother- Gravida 4 Para 3 • History of previous miscarriage • Limited prenatal care, fever, vaginal bleeding • AFP revealed elevated risk for Down’s • Older sibling is epileptic • Mother has history of asthma • Father lives and works in Calif.

15. Patient History • 2.5 year old Hispanic male came to the clinic in March, 2009 with chief complaints of fever and cough for one week. He was diagnosed with pneumonia in the emergency room five days prior to this appointment and received a dose of IV antibiotics and placed on oral medication.

16. Patient History Cont. • Patient delivered at 37 weeks by repeat cesarean section. He had a history of both febrile seizures and complex partial epilepsy. He was diagnosed with GERD as an infant and as a toddler, had an EGD revealing eosinophilic esophagitis.

17. Patient History Cont. • He has had several ear infections and has a hearing loss in his right ear. E.R. has also been hospitalized for several respiratory infections including RSV. He has some developmental delay which include his verbal ability. He has no known cardiac problem.

18. Respiratory Infections Bronchiolitis-RSV • Acute viral infection of the lower respiratory tract • Has had several reoccurrences this year • Possible immunodeficiency Pneumonia • Inflammation of the lower respiratory tract • Involves alveoli and terminal airspaces • Several hospitalizations and ER visits

19. Seizures Febrile Seizures • Occurs when child contracts an illness accompanied by fever • Incidence more prevalent of siblings with history • Developmental delay a factor Complex Partial Seizures • Impaired consciousness • Often begin with motionless stare • Brief in length

20. Gastroesophageal Reflux (GERD) vs. Eosinophilic Esophagitis GERD • Dysphagia • Vomiting • Chronic respiratory infections Eosinophilic esophagitis • Symptoms similar to GERD • Severe squamous epithelial hyperplasia • Food allergies? • Based on endoscopy findings

21. Hearing Loss Chronic Otitis Media • Abnormal anatomy of ear structure • Infections • Food and airborne allergies • Blocked Eustachian tube • Craniofacial anomalies

22. Developmental Delay • Mild to moderate intellectual disability • Expressive language difficulty • Visual-spatial abilities impaired • Autistic-type behaviors (Morris, 2007)

23. Advanced Pharmacology • Budesonide (Pulmicort) • Albuterol • Levetiracetam (Keppra) • Ranitidine (Zantac) • Antipyrine/Benzocaine (Auralgan) • Antipyretics

24. Theoretical Foundation of Nursing Practice

25. Merle Mishel-Uncertainty In Illness Theory • Middle range theory • Developed from research with hospitalized patients • Explains stresses associated with diagnosis and treatment of illness • Support individuals to understand and manage uncertainty (Tomey & Alligood, 2002)

26. Mishel’s Framework • Rare genetic disorder • Limited resources • Small population • Unknown life expectancy Uncertainty???

27. Role of the APN • Expert Clinician • Discover information about genetic disorder • Manage chronic infection and inflammation • Evaluate pharmacological treatments • Review the need for long-term care

28. Role of APN • Educator • Introduce family to Kabuki Syndrome Network • Emphasize basic hygiene and other preventive measures • What are triggers for reactive airway • Nutritional guidance • Cause of insomnia • Dental hygiene/follow-up

29. Role of the APN • Collaborator/Consultant-with patient and other health care professionals • Pulmonologist • Neurologist • Gastroenterologist • ENT • Hematologist • Geneticist • OT/PT • Social Services

30. Role of the APN • Researcher • Acquire knowledge about the Human Genome Project and role in genetics • Explore the Kabuki Syndrome Network • Identify research questions regarding Kabuki syndrome

31. APN Primary Care Provider • Assessment of problems and obstacles • Follow-up with appropriate resources • Maintain communication and support • Emphasis on family-centered care

32. Human Diversity -Involves being culturally competent and remaining sensitive to the racial, ethnic, cultural and socioeconomic differences of families and their effects on the family’s experience and perception of care. Narayan, 2003

33. Ethical and Social Issues • Genetic data • One geneticist in local vicinity • Out of state referrals • Insurance won’t always pay • Many healthcare providers unfamiliar with KS • No prenatal care

34. Ethical and Social Issues • Struggle to juggle daily care • Who will care for these patients • Patient’s own autonomy • Beneficence • Nonmaleficence • Respect for others • Justice

35. Financial Impact • Medicaid reform • Long term impact • Psychological costs • Emotional costs

36. Conclusion • KS is a recently recognized syndrome whereas the mode of inheritance and etiology is unknown. This disorder tends to be under-diagnosed. • Children with chronic conditions are entitled to all of the preventive health needs as those of other children.

37. Conclusion • Care of these patients requires commitment by the APN to gain further knowledge of the genetic condition and its disabilities in order to better serve them.

38. Baby Pictures

39. Update E.R. just celebrated his 3rd birthday!