Pediatrics and Research BOARD REVIEW

1. Pediatrics and Research BOARD REVIEW

2. Question • On examination, a 3-month-old girl still has a Moro reflex, asymmetric tonic neck reflex, and plantar grasp reflex. She does not have any protective extension. You advise her parents that • (a) further diagnostic evaluation is indicated. • (b) she requires a physical therapy evaluation. • (c) she needs a neurology evaluation. • (d) these reflexes are normal reflexes.

3. Answer • (d) These are normal reflexes in a 3-month-old child. The Moro and asymmetric tonic neck reflexes (ATNR) usually are integrated by approximately 6 months. The plantar grasp reflex is integrated by 12 to 14 months after walking has begun. Protective extension in sitting is seen anteriorly at 5 to 7 months, lateral at 6 to 8 months, and posterior at 7 to 8 months.

4. Question • A 2-month-old infant presents to you for evaluation of delayed development. He was the product of a normal term pregnancy, labor, and delivery. Birth weight was 3500 grams. He has had difficulty feeding since birth. Family history is negative for developmental problems. On physical examination, he is awake, but not alert. Weight is 3600 grams. Respiration is unlabored. He has poor head control and decreased tone throughout. Deep tendon reflexes are absent. What is the most likely diagnosis? • (a) KugelbergWelander syndrome • (b) Duchenne muscular dystrophy • (c) Infantile botulism • (d) Tetraplegic cerebral palsy

5. Answer • (d) This patient illustrates the diagnostic dilemma of the floppy infant. Causes of this problem include central nervous system lesions (both brain and spinal cord), myopathies, neuropathies, and neuromuscular junction problems. This infant has had abnormalities since birth, which argues against infantile botulism. KugelbergWelander syndrome (also known as spinal muscular atrophy type 3) has onset during childhood, as does Duchenne muscular dystrophy. Tetraplegic cerebral palsy often presents in infancy with floppiness and hyporeflexia, which later change to spasticity and hyperreflexia.

6. Question • Professionalism is the basis of medicine’s contract with society. Which item is a fundamental principle of medical professionalism? • (a) Social justice • (b) Physician paternalism • (c) Patient disclosure • (d) Free enterprise

7. Answer • (a) According to the Charter on Medical Professionalism, there are 3 fundamental principles of medical professionalism. They are (1) the primacy of patient welfare, (2) patient autonomy, and (3) social justice.

8. Question • Your co-resident presents an article in journal club on a new medication and its impact on outcomes following traumatic brain injury. On which point would you NOT need assurance before you decide to use this medication in your clinical practice? • (a) That the research study results are clinically significant • (b) That bias was eliminated from the study • (c) That the research study results are statistically significant • (d) That research investigators used valid outcome measures

9. Answer • (b) When critically evaluating the medical literature, it is important to consider if the results of the study are both clinically and statistically significant. It is also important to consider whether the outcome assessment tools have been validated for both accuracy and reliability. While biases that may impact the outcome of the study also must be considered, it is often impossible to completely eliminate bias from the study.

10. Question • Which statement accurately characterizes a meta-analysis? • (a) It summarizes the results of randomized controlled trials. • (b) It summarizes the findings of an expert panel. • (c) It groups research on a particular topic area into 3 tiers. • (d) It summarizes findings of a single research protocol that is carried out a multiple centers.

11. Answer • (a) A meta-analysis summarizes the results of randomized controlled trials on a particular topic or research question. A consensus statement summarizes the findings of an expert panel. In developing a consensus statement and reviewing the literature, research studies are typically divided into 3 tiers based on the type of research performed. A multi-center study implements a particular research protocol at multiple centers at different institutions.

12. Question • Investigators must address ethical considerations when designing and implementing research studies. One such consideration requires investigators to design protocols that will provide generalizable knowledge and ensure that the benefits of the research are proportionate to the risks assumed by the subjects. This ethical consideration is referred to as • (a) respect. • (b) beneficence. • (c) justice. • (d) autonomy.

13. Answer • (b) Beneficence requires investigators to design protocols that will provide generalizable knowledge and ensure that the benefits of the research are proportionate to the risks assumed by the subjects.

14. Question • In instances where a researcher has financial investments in a company and is researching the effectiveness of one of the company’s products, the researcher is obligated to • (a) terminate the investigation if the investigational agent is found to be not effective. • (b) disclose this involvement in writing to subjects that are being enrolled in the study. • (c) end financial involvement in the company before the results of the research are revealed to the public. • (d) disclose this involvement to the investigator's medical center, to funding organizations, and to journals publishing the results.

15. Answer • (d) Conflicts of interest in biomedical research are becoming more apparent as private companies increasingly develop relationships with academic research scientists. Avoidance of real or perceived conflicts of interest in clinical research is necessary if the medical community is to ensure objectivity and maintain individual and institutional integrity. Financial investments should only transpire outside of the time that the investigator is involved in any research activity and the results of the research are known to the public. If conflicts of interest exist, the investigator is obligated to disclose this involvement in writing to the investigator's medical center, organizations funding the research, and anytime that the research is presented or published.

16. Question • 149. A 6-month-old infant presents to you with hypotonia. You perform an electrodiagnostic study which shows normal motor conduction velocity, normal sensory conduction velocity and amplitude, normal motor units, and occasional fibrillations and positive waves. The most likely cause of these findings is • (a) congenital myotonic dystrophy. • (b) spinal muscular atrophy. • (c) metachromaticleukodystrophy. • (d) infantile botulism.

17. Answer • 149. (a) Hypotonia in infants can be caused by many abnormalities, including cerebral lesions, spinal cord pathology, polyneuropathies, and myopathies. These electrodiagnostic findings are most consistent with congenital myotonic dystrophy.

18. Question • In children with spastic cerebral palsy, which intervention strengthens weak muscles? • (a) Ankle-foot orthotics • (b) Tendon transfer surgery • (c) Intrathecal baclofen • (d) Functional training program

19. Answer (d) Children with cerebral palsy often have weakness as part of their disorder. Treatments such as bracing, tendon lengthening or transfers, and medications such as botulinum toxin or intrathecal baclofen add to this weakness. Strengthening programs or functional training programs can help to strengthen weak muscles.

20. Question • One of your 4-year-old patients exhibits the following characteristics: distress over minor changes in environment, echolalia, lack of awareness of the existence of feelings in others, nonparticipation in simple games. The most likely diagnosis is • (a) autism. • (b) cerebral palsy. • (c) hearing impairment. • (d) mental retardation.

21. Answer • (a) Autism is characterized by echolalia, inability to play reciprocally, and abnormal relationships with people. While children with mental retardation, cerebral palsy, and hearing impairment may have some of these features, they do not have all of them in the absence of autism.

22. Question • A 17-year-old boy from India presents with a longstanding history of areflexia and asymmetric muscular atrophy after a febrile illness as a child. The likeliest site of neurologic pathology is • (a) myelin sheath of peripheral nerves. • (b) axons of peripheral nerves. • (c) anterior horn cells. • (d) muscle membrane.

23. Answer • (c) Poliomyelitis involves the anterior horn cells. During an acute infection, the virus is transported to the anterior horn cells followed by inflammation and loss of spinal and bulbar motor neurons.

24. Question • Which finding is normal in newborn infants? • (a) Extensor tone predominates • (b) Hands are kept fisted • (c) Spine is straight when held in sitting position • (d) Unable to turn head to side in prone position

25. Answer • (b) In normal newborn infants flexor tone predominates and hands are kept fisted. In prone position a normal newborn is able to turn the head to either side. The newborn has a rounded spine when placed in supported sitting.

26. Question • A 10-year-old child with L4-5 myelodysplasia and shunted hydrocephalus develops spasticity in her legs. The most likely cause of this spasticity is • (a) shunt malfunction. • (b) symptomatic Chiari malformation. • (c) growth. • (d) tethered cord.

27. Answer • (d) Tethered cord is the most common cause of new onset spasticity in patients with myelodysplasia. Linear growth does not cause new spasticity. Symptoms of Chiari malformation include cranial nerve disorders and respiratory problems. Shunt malfunction may be associated with headaches, vomiting, eye muscle abnormalities, and sometimes abdominal symptoms.

28. Question • Which positive effect of ankle-foot orthotics has been proven beneficial in the treatment of children with cerebral palsy? • (a) Improved gait efficiency as measured by gait analysis • (b) Prevention of contractures • (c) Improved knee extensor strength • (d) Decreased plantar flexor posture

29. Answer • (a) There are no large, randomized, controlled studies that show the long-term effects of any type of Ankle-Foot Orthosis (AFO) on function or contracture formation. Small studies have shown that both rigid and hinged AFOs improve gait efficiency by preventing plantar flexion.

30. Question • A 5-year-old boy is brought to your office with pain in his left groin for the last 2 months. He has an antalgic gait and favors his left leg. He has been unable to play with his siblings because of pain and reports increased severity of the pain at night. There is no history of trauma. Passive range of motion of the left hip is extremely painful. Which of the following is most likely? • (a) The child is not telling the truth about the trauma for fear of being punished by his parents. • (b) A simple radiograph will demonstrate this problem to be a benign syndrome that only requires • monitoring. • (c) This child is at risk for permanent disability and treatment requires the use of an abduction • brace. • (d) You are very concerned about physical abuse by the parents, since the child is very quiet when the parents are in the examination room.

31. Answer • (c) This child has Legg-Calvé-Perthes disease. This is avascular necrosis of the femoral head (also known as idiopathic osteonecrosis of the femoral head) and typically affects children between the ages of 4 and 8 years. Boys are affected 4 times more than girls are, and it is unilateral in 90% of children. It is uncommon in African American children. The bone dies and loses its structural integrity, leading to collapse of the femoral head with deformity and arthritis.

32. Question • What condition casues the typical “myopathic gait” seen in a young boy with Duchenne muscular dystrophy with accentuated lumbar lordosis and toe walking? • (a) Hip and knee extensor weakness • (b) Hip flexion and ankle plantar flexion contractures • (c) Hip extensor weakness and plantar flexion contracture • (d) Hip flexion contracture and knee extensor weakness

33. Answer • (a) The typical “myopathic gait” seen in early Duchenne muscular dystrophy is caused by weakness of the gluteus maximus and quadriceps muscles. In order to maintain upright posture the child assumes the hyperlordotic stance. Contractures of the gastrocsoleus and iliopsoas muscles occur later in the disorder.

35. Question The most useful clinical criterion to distinguish Becker muscular dystrophy from Duchenne muscular dystrophy is ? • (a) creatinekinase values at the time of diagnosis. • (b) walking ability during the teen-age years. • (c) Gowers’ sign and calf enlargement. • (d) age at onset of diagnosis.

36. Answer • (b) The most useful clinical criterion to distinguish Becker muscular dystrophy (BMD) from Duchenne muscular dystrophy (DMD) is the continued ability of the patient to walk into late teen-age years. Persons with BMD will typically remain ambulatory beyond 16 years. Outlier DMD cases generally stop ambulating between 13 and 16 years of age. Creatinekinase values cannot be used to differentiate DMD from BMD. Calf enlargement and the presence of Gowers’ sign are a nonspecific findings. Studies have shown significant overlap in the observed age at onset between DMD and BMD.

37. Question The leading cause of childhood disability is • (a) traumatic brain injury. • (b) spinal muscular atrophy. • (c) spina bifida. • (d) cerebral palsy.

38. Answer • (d) Cerebral palsy is the leading cause of childhood disability. The reported incidence is approximately 2-3 per 1,000 live births. The incidence of spina bifida is .5 per 1,000, of spinal muscular atrophy 1 in 25,000. The annual incidence for traumatic brain injury in children is 1-2 per 1,000. However, the great majority of cases are minor and result in no long-term disability. Approximately 15% of brain-injured children have moderate and severe injuries resulting in permanent impairment.

39. Question • The earliest weakness seen in skeletal muscle in Duchenne muscular dystrophy is located in • (a) knee extensors. • (b) hip flexors. • (c) neck flexors. • (d) ankle plantar flexors.

40. Answer • c. neck flexors

41. Question The most common complication after amputation in the immature child is • (a) phantom limb pain. • (b) diffuse edema. • (c) terminal overgrowth. • (d) painful neuroma.

42. Answer • (c) Terminal overgrowth at the transected end of a long bone is the most common complication after amputation in the skeletally immature child. It occurs most frequently in the humerus, fibula, tibia, and femur, in that order. The oppositional growth may be so vigorous that the bone pierces the skin. The treatment of choice is surgical revision.

43. Question • The earliest marker of abnormal central nervous system maturation is ? • (a) diffuse fasciculations. • (b) gross motor delay. • (c) delay of postural responses. • (d) persistence of primitive reflexes.

44. Answer • (d) In neonates and young infants, motor behavior is influenced by primitive reflexes because of the immature central nervous system. These reflexes gradually become suppressed. Concurrently, more sophisticated postural responses emerge. Obligatory persistent primitive reflexes are the earliest markers of abnormal neurologic maturation.

45. Question A parent of an 18-month-old child reports that the child babbled as an infant but became much quieter after about 8 months of age. She has no true words, though she will wave bye-bye. She follows no verbal commands but will follow occasional pantomime commands. Her gross and fine motor skills have been normal. The most likely diagnosis is ? • (a) autism. • (b) mental retardation. • (c) hearing impairment. • (d) oral motor apraxia.

46. Answer • (c) A history of delay in communication development raises several diagnostic possibilities, including true language dysfunction or a motor dysfunction or significant hearing loss. Infants with hearing loss start to fall behind after 6-8 months of age, when learning of auditory-dependent vocalization begins. Oral motor dysfunction is often associated with cerebral palsy, most often spastic quadriparesis. Difficulty with drinking from a cup and difficulty with the introduction of solid food are early symptoms of oral motor dysfunction. Autism is a spectrum disorder with qualitative abnormalities in communication and in social and behavioral realms.

47. Question The most severe form of mental retardation in cerebral palsy occurs in association with • (a) spastic diplegia. • (b) ataxia. • (c) spastic quadriplegia. • (d) athetosis.

48. Answer • (c) Mental retardation is the most common serious associated disability in cerebral palsy. The overall incidence of mental retardation is approximately 30%-50%. Severe mental retardation is present in about one-half of the retarded group. Approximately one-third of cases have mild cognitive deficits. The greatest retardation is seen in rigid, atonic, and severe spastic quadriplegic cerebral palsy.

49. Question A 7-year-old boy is referred for evaluation and management of gradually progressive pain located in the right medial thigh and knee, a limp, and limited painful hip motion. There was a similar episode 3 months before which resolved spontaneously. Of the following conditions, the most likely diagnosis is • (a) congenital hip dysplasia. • (b) slipped capital femoral epiphysis. • (c) Legg-Calvé-Perthes disease. • (d) epiphyseal fracture.

50. Answer • (c) Legg-Calvé-Perthes disease, avascular necrosis of the femoral head, occurs most commonly in boys between the ages of 4 and 8 years. It is characterized by medial thigh, groin, and knee pain, is associated with a limp, and is often preceded by a transient episode of hip synovitis. Congenital hip displasia is usually apparent much earlier; slipped capital femoral epiphysis occurs during periods of rapid growth, typically in adolescent boys, and may be preceded by trauma.