1. Early Identification of Motor Delay and Weakness [Add presenter information]

2. Introduction and Disclaimer [Presenter, insert text]

3. The National Task Force for Early Identification of Childhood Neuromuscular Disorders Goal: Facilitate early identification of muscle weakness in children ages of 6 months to 5 years Tools: – Motor Surveillance Aid – Motor Delay Algorithm (screening and referral) – Video Library showing manifestations of weakness – Supporting materials available on www.childmuscleweakness.org www.childmuscleweakness.org

4. Neuromuscular Task Force Process Process: – Consensus guidance by multidisciplinary expert advisory committee – Expert review of all materials – Evaluation and piloting by primary care providers, integrating recommendations into practice

5. Composition of Neuromuscular Task Force Representatives from: American Academy of Pediatrics American Academy of Neurology Association of Academic Physiatrists Childhood Neurology Society American Academy of Physician Assistants National Association of Pediatric Nurse Practitioners National Association of Community Health Centers American Physical Therapy Association American Academy of Physical Medicine and Rehabilitation American Occupational Therapy Association American Speech Language Hearing Association National Society of Genetic Counselors National Coalition for Health Professional Education in Genetics CDC HRSA Parent Project Muscular Dystrophy Muscular Dystrophy Association Cure CMD SMA Foundation Families of SMA

6. [Presenter: Consider adding a case study from your own experience or from http://www.childmuscleweakness.org/index.p hp/case-studies-for-countinuing-education]

7. Steps to Early Diagnosis 1.Listen to parents’ concerns. 2.Evaluate developmental history (including social and language development). 3.Perform motor surveillance/physical exam. 4.Do appropriate screening and referral.

8. Neuromuscular Task Force Clinical Pearls Early diagnosis of neuromuscular disorders is important – Target interventions to improve outcomes – Reduces family distress related to the diagnostic process – Provides the opportunity for accurate genetic counseling – May allow participation in clinical trials Listen to parents. 80% of parent concerns are correct and accurate.* *Source: National Center for Medical Home Implementation, AAP

9. HOW PARENTS REPORT DESCRIBING FIRST MOTOR CONCERNS TO PROVIDERS Based on Task Force survey responses of 1087 parents of children with DMD, BMD, CMD, and SMA diagnosed between 6m and 9 years

10. Parents’ First Concerns Coordination – “She falls down a lot even when there is nothing to trip over” – “She seems uncoordinated” Head control – “She struggles to lift her head” – “He hates tummy time” Hypotonia – “He’s floppy” – “Feels like a rag doll” *Source: survey of responses from 1087 parents of children with DMD, BMD, CMD, and SMA diagnosed between 6m and 9 years

11. Parents’ First Concerns Inability to jump Rise from floor – “He’s climbing up his body” – “He rises from the floor using a specific pattern” Stairs – “She has a hard time going up stairs” – “He’s slow up the stairs” – “He cannot alternate feet” *Source: survey of responses from 1087 parents of children with DMD, BMD, CMD, and SMA diagnosed between 6m and 9 years

12. Parents’ First Concerns Standing – “She won’t bear weight on her legs” – “Her legs give out” Walking – “She’s not walking yet at all” – “awkward” or “funny” walk – “He always walks on his toes” Weakness – “His legs are weak” – “She can’t reach out with her arms” – “She’s weak all over” *Source: survey of responses from 1087 parents of children with DMD, BMD, CMD, and SMA diagnosed between 6m and 9 years

13. Parents’ First Concerns Lack of progression in motor skills – “She’s not where she should be” Comparison to sibs/peers – “He does not keep up with other kids his age” Intuition – “Something just isn’t quite right” Note: Parent statements may be vague; ask follow-up questions. * Source: survey of responses from 1087 parents of children with DMD, BMD, CMD, and SMA diagnosed between 6m and 9 years

14. MOTOR SURVEILLANCE RECOMMENDATIONS Neuromuscular Task Force

15. Builds On Bright Futures As recommended by Bright Futures (AAP’s Guidelines for Health Supervision of Infants, Children, and Adolescents): perform surveillance of motor development at each well-child visit Use screening tools to inform evaluation http://brightfutures.aap.org/

16. Neuromuscular Task Force Clinical Pearls Recognize signs of weakness. Developmental progress does not exclude an underlying neuromuscular condition. Neuromuscular diseases can involve the brain and cognition.

17. Motor Surveillance Recommendations Evaluate for motor weakness over time. If a child does not achieve a motor milestone at the expected time, follow up until the milestone is achieved, or until there is sufficient concern for referral. Evaluate function in context of environmental factors and developmental history.

18. Surveillance Aid: Infant + Pull to sit Evaluate pull to sit with attention to head lag, until achieved If a child has head lag at 4 months: – Evaluate other motor milestones (e.g., is baby rolling?) – Refer to early intervention – Re-evaluate with motor screening in one month. If child is not age-appropriate: CK and referral

19. Video clip: Pull to sit 19 [Presenter, go to http://www.childmuscleweakness.org/index.p hp/videos to choose a video clip.] http://www.childmuscleweakness.org/index.p hp/videos

20. Surveillance Aid 6 & 9 Months: Achieve & Maintain Sit Evaluate sitting without support at 6 m. and getting into sitting position at 9 m., or until achieved If a child is not sitting independently by 7 m. or getting into a sitting position at 9 m.: CK and referral

21. Surveillance Aid 12 Months +: Gait Watch walk after parents report independent walking Watch or ask about ability to run at 18 month and 24 month visits or until achieved Ask about any concerns with walking, running, or frequent falls at subsequent visits

22. Surveillance Aid 12 Months +: Gait Walk: Not walking at 15 months: consider early intervention and physical therapy, taking into account overall motor development; re- evaluate within 2-3 months Not walking well at 18 months, or shows regression: CK and referral

23. Video clip: Gait 23 [Presenter, go to http://www.childmuscleweakness.org/index.p hp/videos to choose a video clip.] http://www.childmuscleweakness.org/index.p hp/videos

24. Surveillance Aid 12 Months +: Gait Run: Not running at 20 months: consider early intervention and physical therapy, taking into account overall motor development; re- evaluate within 2-3 months Note quality of running Not running at 24 months, or shows regression: CK and referral

25. Surveillance 12 m +: Independent Rise to Stand from Floor Watch rise from supine, after child walks well – Gowers maneuver (full or modified, by putting hands even briefly on knees or thighs) – Inability to rise without pulling up – Repeat any time concerns are raised about walking or other motor function Child who cannot rise from floor to stand without support by 18 months, or who shows regression: CK and referral

26. Video clip: rise from floor 26 [Presenter, go to http://www.childmuscleweakness.org/index.p hp/videos to choose a video clip.] http://www.childmuscleweakness.org/index.p hp/videos

27. MOTOR DELAY ALGORITHM: WHEN TO USE CK TESTING AND INITIATE DIAGNOSTIC EVALUATION If child does not meet age-appropriate motor milestones…

29. Step 1: Is there reason for urgent referral? 29

30. Red Flags for Immediate Referral to Neurology Tongue fasciculation Loss of motor milestones CK>3x/nl Communicating one or more red flags to the neurologist will often expedite the referral.

31. Step 2: Is the cause central or peripheral? 31

32. muscle neuromuscular junction peripheral nerve spinal cord brain cerebellum Neuromuscular System motor neuron (anterior horn cell) Neuromuscular diseases

33. Central or Peripheral? In the context of child’s history – Prenatal, birth and developmental – Family history A negative family history does not rule out a genetic neuromuscular disorder. – Other medical problems (e.g., congenital heart disease, prior meningitis)

34. Central vs. Peripheral SignPeripheral CauseCentral Cause Chest size May be small with bell shape Usually normal Facial movement Often weak “myopathic” with high arched palate Usually normal Tongue fasciculation May be present, particularly in SMA Absent ToneReduced tone Reduced tone or increased tone with scissoring Deep Tendon ReflexesDecreased or absent Increased, may have clonus GaitToe walking Waddling Hyperlordotic Toe walking Hemiparetic Spastic

35. Signs of Muscle Weakness that Suggest Peripheral Cause Tongue fasciculation Abdominal breathing or accessory muscle use Head lag when pulled to sit “Slipping through the hands” when held suspended Difficulty rising from floor

36. Step 3: Measure CK If you evaluate a child with developmental delay that includes motor weakness, do a CK. 36

37. Rational for CK Testing Starting point in evaluation of motor delay, even if cognitive delay is more of a concern Helps focus further testing and referrals Quick and inexpensive Results help differentiate between disorders that cause weakness – Central (normal CK) – Peripheral (CK may be elevated) Elevated in D/BMD, some CMDs, some LGMDs Mildly elevated or normal in SMA, neuropathies, congenital myopathies

38. Other Uses of CK Testing If transaminases (AST and ALT) are elevated, check CK. – AST/ALT come from muscle or liver – CK comes only from muscle – CK test helps localize the problem and prevent unnecessary liver tests Many neuromuscular conditions increase risk of malignant hyperthermia with anesthesia use. Anticipated surgery should increase the urgency of a CK testing and diagnostic evaluation.

39. Follow Up of CK Testing Elevated CK warrants prompt referral to neurology. In many specialty clinics, an elevated CK level reduces wait time for consultation. (A personal phone call may also be helpful.) Normal CK does not rule out neuromuscular disease. Referrals to specialists, physical therapy, and early intervention are warranted for a child with motor delay, even with normal CK levels. A mildly elevated CK (1-2x normal) should be followed up. Repeat the test after several weeks, and if you have concerns, consult with a neurologist.

40. Step 4: Clinical Judgment 40

41. Step 5: If Diagnostic Referral is Not Urgent: Early Intervention and Re-Evaluate 41

42. COMMUNICATING WITH FAMILIES ABOUT MOTOR CONCERNS Neuromuscular Task Force Recommendations

43. Communicating with Families about Motor Concerns Take time to understand parents’ concerns. Most parents are accurate at identifying delays. Ask questions, especially if parents present vague concerns. – Ask about performance of gross motor activities outside the clinic setting (sustained running, climbing, bike riding, stair climbing, etc). Encourage parents to come to appointments with a list of questions and concerns.

44. Communicating with Families about Motor Concerns Explain your own concerns (or why you are not concerned) in plain language. As relevant, emphasize variation in child development. Talk honestly and sensitively about whether you suspect a minor delay that is amenable to quick catch-up, or a more serious delay. When reasonable, reassure parents that the child is unlikely to suddenly and dramatically get worse (a common concern once delays have been noted).

45. Communicating with Families about Motor Concerns Outline the plan for further assessment. – Clearly describe what will happen next and which professionals will be involved. Ask if parents have questions. – Feeling overwhelmed or concerned may limit parents’ ability to absorb information – Offer opportunities to ask questions by phone and at future visits

46. Communicating with Families about Motor Concerns Ask the parents how they feel. – Parents may have conflicting feelings, e.g., relief at being heard, worry because you share their concerns, and anger at you for bringing unwelcome news. Respond to their feelings; even a simple reflection of their feelings goes a long way. Reassure parents that you will revisit concerns about motor development until delays are resolved and/or until the cause of the delay is known.

47. NEUROMUSCULAR TASK FORCE TOOLS AND RESOURCES www.ChildMuscleWeakness.org

49. Support The Neuromuscular Task Force and the ChildMuscleWeakness.org website were supported by the Centers for Disease Control and Prevention (CDC). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the CDC.