Metabolics/Genetics Rotation

Introduction

Neurologic signs and symptoms are the primary manifestation of numerous genetic diagnoses and many inborn errors of metabolism.  Therefore, recognition of these disorders and introductory knowledge of their treatment is necessary for practicing child neurologists.  This 4 week rotation includes mostly outpatient clinic experience in the general genetics and metabolic clinics as well as their subspecialty clinics.  Some inpatient consultative exposure also occurs during the rotation.

Medical Knowledge

Understand the scope of established and evolving biomedical, clinical, epidemiological, and social-behavioral knowledge needed by a child neurologist; demonstrate the ability to acquire, critically interpret and apply this knowledge in patient care.

1. Congenital Anomalies
   1. Describe common malformations found in the newborn
2. Common Syndromes
   1. Explain the important health implications and anticipatory guidance recommendations for children with Beckwith-Wiedeman Syndrome (GeneReviews)
   2. Delineate the diagnostic criteria for Fetal Alcohol Syndrome (A Practical Clinical Approach to the Diagnosis of Fetal Alcohol Spectrum disorders)
3. Biochemical Disorders (See Metabolism readings)
   1. Identify the basic presentations of inborn errors of metabolism in a sick newborn
   2. Describe hyperammonemia as a medical emergency and understand the treatment options.
   3. Identify the benefits and limitations of newborn screening for inborn errors of metabolism
   4. Describe the basic tests available in working up metabolic disorders (plasma amino acids, acylcarnitines, urine organic acid, ammonia, carnitine, lactate)
   5. Describe the dysmorphic features associated with lysosomal storage disorders (Hurler Syndrome)
   6. Explain the basic clinical features of mitochondrial Distinguish mitochondrial respiratory chain disorders from those caused by alterations in the mitochondrial genome (MELAS, MERRF, CPEO)
4. Common Syndromes: Recognize these common syndromes (AAP Guidelines for several syndromes/GeneReviews/ Down Syndrome – Management of Genetic syndromes – Cassidy):

• • Achondroplasia
  • Down Syndrome
  • Marfan Syndrome
  • Turner Syndrome
  • Williams Syndrome
  • Neurofibromatosis Type 1
  • 22q Deletion Syndrome
  •  Prader-Willi Syndrome
  • Angelman Syndrome
  • Fragile X Syndrome
  • Noonan Syndrome

Patient Care

Provide family-centered patient care that is development- and age-appropriate, compassionate, and effective for the treatment of health problems and the promotion of health.

1. Congenital Anomalies
   1. Perform a physical examination focusing on dysmorphic features (Dysmorphology Terminology – intro, hand and feet, ear, head and face, lips/mouth, nose/philitrum/periorbital)
   2. Order standard genetic tests (chromosomes, microarray CGH and molecular testing) in children with multiple congenital anomalies or unexplained intellectual disability
2. Common Syndromes
   1. Diagnose the common syndromes listed above

Interpersonal and Communication Skills

Demonstrate interpersonal and communication skills that result in information exchange and partnering with patients, their families, and professional associates.

1. Provide effective patient education, including reassurance, for a condition(s) common to genetics.
2. Communicate effectively with primary care and other physicians, other health professionals, and health-related agencies to create and sustain information exchange and teamwork for patient
3. Maintain accurate, timely, and legally appropriate medical records, including referral forms and letters, for patients in the outpatient and inpatient
4. Demonstrate competence in interacting with children in a manner that is appropriate for their age and promotes comfort and understandi
5. Demonstrate cultural competence by showing respect for patients and families beliefs, religion, ethnicity, and culture.

Professionalism

Demonstrate a commitment to carrying out professional responsibilities, adherence to ethical principles, and sensitivity to diversity.

1. Demonstrate reliability, responsibility, and respect for patients and families, including appropriate verbal and nonverbal communication
2. Work collaboratively and cooperatively as a member of a health care team, demonstrating a commitment to professional behavior in interactions with staff and professional colleagues.
3. Arrive on time for scheduled activities and appointments.
4. Demonstrate a commitment to professional responsibilities, even during periods of stress, by making a personal commitment to a respectful workplace, working collaboratively with other members of the health care team, engaging in self-assessment, and accepting external scrutiny to maintain professional standards.
5. Adhere to ethical and legal principles.

Practice-Based Learning and Improvement

Demonstrate knowledge, skills and attitudes needed for continuous self-assessment, using scientific methods and evidence to investigate, evaluate, and improve one’s patient care practice.

1. Critically review relevant genetics literature and web-based
2. Evaluate your performance, identify gaps in your knowledge base, and target self- directed learning to enhance performance and fill knowledge
3. Make evidence-based decisions in patient care by formulating pertinent clinical questions, retrieving and critically appraising relevant up-to-date information, and applying that information to inform clinical
4. Identify standardized guidelines for diagnosis and treatment of conditions common to genetics and adapt them to the individual needs of specific
5. Learn from
6. Provide, request, accept, and incorporate
7. Systematically organize relevant information resources for future reference, and plan for continuing acquisition of knowledge and

Systems-Based Practice

Understand how to practice high-quality health care and advocate for patients within the context of the health care system.

1. Identify key aspects of health care systems as they apply to genetics, including the referral
2. Take steps to avoid medical errors by recognizing the limits of one’s knowledge and expertise; work with the health care team to recognize and address systems errors.
3. Demonstrate sensitivity to the costs of clinical care in genetics, and take steps to minimize costs without compromising
4. Understand the value of appropriate use of laboratory and radiographic testing, as well as their

Recognize and advocate for families who need assistance to deal with systems complexities, such as the referral process, lack of insurance, multiple medication refills, multiple appointments with long transport times, or inconvenient hours of service.