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Diagnostic Tools - Muscular Dystrophy Disease

Diagnostic Tools

New Recommendations to Screen Babies and Young Children for Motor Delay

Pediatricians need to regularly screen, identify and evaluate babies and young children for delays in motor development, according to recommendations in a new clinical report funded by the Centers for Disease Control and Prevention (CDC). Motor development is how a child’s brain and muscles become able to move parts of the body like arms, fingers, legs, and head, and to work together so the child can get around (such as in walking, running, and climbing). 

Published by the American Academy of Pediatrics (AAP) in June of 2013, the clinical report “Motor Delays: Early Identification and Evaluation” encourages early screening and identification by pediatricians. Recent AAP guidelines have focused on language and social development. This report recognizes the importance of motor development.

Delays in motor development can include:

Early Identification - What You Can Do

CDC supports early identification and evaluation of motor delays. Early screening and identification can reduce the “diagnostic odyssey” that families of children with motor delays may face as they spend years visiting different doctors and undergoing many tests to reach a correct diagnosis. Early screening can identify children more likely to have motor delays, and enable a quicker referral to a specialist for diagnosis.

Early identification can lead to faster access to beneficial early intervention programs or special education resources. Early intervention services are designed for children under three years old and include services like therapy to help the child talk, walk, and interact with others. Special education instruction can help children with a disability that are more than three years old with a range of educational and developmental needs. These might include learning to read, write, or remember new information, or therapy for trouble with behavior or emotions.  

The AAP clinical report emphasizes the importance of “pursuing diagnostic tests while concurrently referring patients to early intervention programs.” A diagnostic test determines whether a person has or does not have a specific disease. The clinical report includes an algorithm, or step-by-step solution, for screening and then testing children with high or low muscle tone (stiff muscles or muscles that are weak). The algorithm also lists “red flags” for prompt referral to a specialist. Muscular dystrophy and cerebral palsy are two motor-related disorders that may be identified using these new guidelines. 

Developmental Screenings

The report recommends developmental screenings take place at well-child visits at 9, 18, 30, and 48 months of age. A developmental screening is a short test to tell if a child is learning basic skills, or if there are delays. Developmental screenings can also be done by other professionals in health care, community, or school settings.

In addition to the screening, the pediatrician usually watches a child move and play. These observations are especially important for children with possible motor delays. The pediatrician will also ask parents or other family members about their observations of the child. A delay or concern in any of these areas could be a sign of a problem.

CDC has funded a website, that features a library of video clips showing children with specific motor delays compared to children without motor delays. The core content on this website complements the clinical report and it has been endorsed by the AAP.

Web-based Tool for Early Diagnosis

CDC research has indicated that individuals affected by the most severe form of muscular dystrophy—Duchenne muscular dystrophy—experience a significant delay in receiving an accurate diagnosis. Most of them are not diagnosed until 5 years of age. Despite improvements in diagnostic testing, this figure has not changed in 20 years. Delays in diagnosis may mean a delay in accessing care, and may have practical implications for the family.

CDC has funded development of the only early diagnosis tool designed specifically for identifying muscle weakness among children. The agency’s muscular dystrophy program collaborates with partners to create tools to help to improve the lives of people with muscular dystrophy. To this end, CDC has funded Parent Project Muscular Dystrophy to establish the National Task Force for the Early Identification of Neuromuscular Disorders. The result of the task force’s work is, a Web-based tool to help primary care clinicians, therapists, and other specialists in the early diagnosis of child muscle weakness. This tool is designed to decrease the time between initial signs and first diagnosis, and improve early intervention and access to care.

The core content of this Web tool has been endorsed by the American Academy of Pediatrics. The site features a video library of clips showing specific neuromuscular features. The site also includes a video library of clips showing specific neuromuscular features and resources for testing and referral.

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