early identification of motor delay and weakness [add presenter information]

Early Identification of Motor Delay and Weakness

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Introduction and Disclaimer• [Presenter, insert text]

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

http://www.childmuscleweakness.org/

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

Composition of Neuromuscular Task Force

Representatives from:American Academy of PediatricsAmerican Academy of NeurologyAssociation of Academic PhysiatristsChildhood Neurology SocietyAmerican Academy of Physician

AssistantsNational Association of Pediatric Nurse

PractitionersNational Association of Community

Health CentersAmerican Physical Therapy AssociationAmerican Academy of Physical Medicine

and RehabilitationAmerican Occupational Therapy

Association

American Speech Language Hearing Association

National Society of Genetic CounselorsNational Coalition for Health Professional

Education in GeneticsCDCHRSAParent Project Muscular DystrophyMuscular Dystrophy AssociationCure CMDSMA FoundationFamilies of SMA

[Presenter: Consider adding a case study from your own experience or from

http://www.childmuscleweakness.org/index.php/case-studies-for-countinuing-education]

Steps to Early Diagnosis1. 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.

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

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

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

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”


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”


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.


MOTOR SURVEILLANCE RECOMMENDATIONS

Neuromuscular Task Force

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/

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.

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.

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

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Video clip: Pull to sit• [Presenter, go to

http://www.childmuscleweakness.org/index.php/videos to choose a video clip.]

http://www.childmuscleweakness.org/index.php/videos


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

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


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

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Video clip: Gait• [Presenter, go to





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

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

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Video clip: rise from floor• [Presenter, go to




MOTOR DELAY ALGORITHM: WHEN TO USE CK TESTING AND INITIATE DIAGNOSTIC EVALUATION

If child does not meet age-appropriate motor milestones…

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Step 1: Is there reason for urgent referral?

Red Flags for Immediate Referral to Neurology

• Tongue fasciculation• Loss of motor milestones• CK>3x/nlCommunicating one or more red flags to the

neurologist will often expedite the referral.

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Step 2: Is the cause central or peripheral?

muscle

neuromuscular junction

peripheral nerve

spinal cord

brain

cerebellum

Neuromuscular System

motor neuron(anterior horn cell)

Neuromuscular diseases

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)

Central vs. PeripheralSign Peripheral Cause Central 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

Tone Reduced tone Reduced tone or increased tone with

scissoringDeep Tendon Reflexes Decreased or absent Increased, may have

clonusGait Toe walking

Waddling Hyperlordotic

Toe walkingHemiparetic

Spastic

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

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Step 3: Measure CKIf you evaluate a child with developmental delay that includes

motor weakness, do a CK.

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

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.

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.

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Step 4: Clinical Judgment

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

COMMUNICATING WITH FAMILIES ABOUT MOTOR CONCERNS

Neuromuscular Task Force Recommendations

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.

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).

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

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.

NEUROMUSCULAR TASK FORCE TOOLS AND RESOURCES

www.ChildMuscleWeakness.org

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.

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