Care Pathway Update: Diagnosis Garey Noritz, MD - - PowerPoint PPT Presentation

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Hypotonia Care Pathway Update: Diagnosis Garey Noritz, MD

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Disclosure Information- AACPDM 72nd Annual Meeting | October 9-13, 2018

Speaker Name: Garey Noritz, MD Disclosure of Relevant Financial Relationships I have no financial relationships to disclose. Disclosure of Off-Label and/or investigative uses: I will not discuss off label use and/or investigational use in my presentation

………………..…………………………………………………………………………………………………………………………………….. Apkon S, Noritz G. Developmental Medicine & Child Neurology. 2018;60(9):851

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Mean Age First Signs or Symptoms Noted 2.5 years First reported to PCP 3.6 years First Creatine Kinase Sent 4.7 years Definitive Diagnosis of Duchenne 4.9 years 156 156 boys without a family history of Duchenne (2009)

Ciafaloni E, et al. The Journal of Pediatrics. 2009;155(3):380-5.

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Why is early diagnosis important?

• Early identification of CP can improve outcomes by intervening

during the early period of neuroplasticity

• Even incurable disorders, including many neuromuscular disorders,

are treatable.

• A delay in diagnosis delays access to information about care options,

relevant clinical trials, and support networks for a specific disorder.

• Not having an accurate diagnosis may result in a child missing

appropriate therapies or receiving therapies not recommended for a disorder.

• Delays in diagnosis often impede access to services, including Early

Intervention and other health care services.

• Early diagnosis facilitates access to genetic counseling to learn

about family planning options.

• There can be significant family stress with the delay of an accurate
• diagnosis. Families often see several clinicians before receiving a

referral to a specialist familiar with neuromuscular disorders and may experience unnecessary testing.

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Key Components of the Neurological Exam

• History, Developmental Milestones
• Weight, Height, Head Circumference on Appropriate Growth

Charts

• Dysmorphic Features
• Signs of Respiratory Distress
• Organomegaly
• Strength Testing by Functional Observation
• Fasciculations, Primitive, and Deep Tendon Reflexes
• Muscle Bulk and Tone

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Testing for Tone

IMPLICATIONS SCARF SIGN POPLITEAL ANGLE Suspect normal tone. The elbow position is between the bilateral midclavicular lines. 5° age 1-3 years 15-25° age 4 years 25° > 5 years Suspect low tone. The elbow crosses the midline to the contralateral midlclavicular line <5° > 1 year of age Suspect high tone. The elbow does not cross the ipsilateral midclavicular line. >25° > 1 year of age

Scarf Sign Popliteal Angle

Localize the Problem

Sign Upper Motor Neuron Lower Motor Neuron Muscle Atrophy None Severe None Fasciculations None Common None Tone Spastic Decreased Normal or Decreased DTRs Hyper Hypo Normal or Hypoactive Babinski Up Down Down Test MRI SMN Testing CK

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Testing for a child with Low (or Normal) Tone

• Creatine Kinase (CK):
• The CK is significantly elevated in Duchenne Muscular

Dystrophy, at least 3x normal. Often elevated in other muscle diseases

• Ohio Medicaid Max Payment (2018): $6.70
• Thyroid Stimulating Hormone (TSH):
• Thyroid myopathy may present with either

hypothyroidism or hyperthyroidism, or without classical signs of thyroid disease (admittedly uncommon)

• Ohio Medicaid Max Payment (2018): $17.29
• Microarray: around $2200 (2014)

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Pediatric Neurology. 2002;26(5):383-6.

• 1. Early Hypotonia, usually since birth
• 2. Active movements of the limbs and normal tendon reflexes
• 3. Normal or mild motor delay that improves later on
• 4. Normal muscle enzymes
• 5. Normal Electromyogram and Nerve Conduction Velocities
• 6. Normal Muscle Biopsy

I would add:

• 1. Absence of encephalopathy
• 2. Absence of other congenital anomalies

* *Previously: Benign congenital hypotonia, etc.

………………..…………………………………………………………………………………………………………………………………….. Developmental Medicine & Child Neurology. 2011;53(7):586-99.

Hypotonia has been described as a feature of more than 500 genetic disorders… and counting.

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What about Hypotonic Cerebral Palsy?

Developmental Medicine & Child Neurology. 2014;56(4):323-8.

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What about Hypotonic Cerebral Palsy?

Dev Med Child Neurol Suppl. 2007;109:8-14.

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What about Hypotonic Cerebral Palsy?

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Regardless of Suspected Diagnosis…

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References

• Apkon S, Noritz G. The primary care pediatrician: key to improving neuromotor outcomes.

Developmental Medicine & Child Neurology. 2018;60(9):851.

• Carboni P, Pisani F, Crescenzi A, Villani C. Congenital hypotonia with favorable outcome.

Pediatric Neurology. 2002;26(5):383-6.

• Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, et al. Delayed Diagnosis

in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). The Journal of Pediatrics. 2009;155(3):380-5.

• Lisi EC, Cohn RD. Genetic evaluation of the pediatric patient with hypotonia: perspective from a

hypotonia specialty clinic and review of the literature. Developmental Medicine & Child Neurology. 2011;53(7):586-99.

• Noritz GH, Murphy NA. Motor delays: early identification and evaluation. Pediatrics.

2013;131(6):e2016-27.

• Rosenbaum P, Paneth N, Leviton A, Goldstein M, Bax M, Damiano D, et al. A report: the definition

and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl. 2007;109:8-14.

• Smithers-Sheedy H, Badawi N, Blair E, Cans C, Himmelmann K, Krägeloh-Mann I, et al. What

constitutes cerebral palsy in the twenty-first century? Developmental Medicine & Child Neurology. 2014;56(4):323-8.

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THANK YOU!

Our work was supported by PEHDIC: Program to Enhance the Health and Development of Infants and Children, a cooperative agreement between the American Academy of Pediatrics and the Centers for Disease Control and Prevention's National Center on Birth Defects and Developmental Disabilities

Garey.Noritz@NationwideChildrens.org