Motor Delays: Early Identification and Evaluation

The American Academy of Pediatrics (AAP) recommends developmental surveillance at all preventive care visits and standardized developmental screening of all children at ages 9, 18, and 30 months.¹ Recently, developmental screening instruments and their clinical interpretations have emphasized the early detection of delays in language and social development, responsive to rising prevalence rates of autism spectrum disorders in US children.² The most commonly used developmental screening instruments have not been validated on children with motor delays.^3,4 Recognizing the equal importance of surveillance and screening for motor development in the medical home, this clinical report reviews the motor evaluation of children and offers guidelines to the pediatrician regarding an approach to children who demonstrate motor delays and variations in muscle tone. (This report is aimed at all pediatric primary care providers, including pediatricians, family physicians, nurse practitioners, and physician assistants. Generic terms, such as clinician and provider, are intended to encompass all pediatric primary care providers.)

Gross motor development follows a predictable sequence, reflecting the functional head-to-toe maturation of the central nervous system. Although parents are reliable in reporting their child’s gross motor development,^5,6 it is up to the clinician to use the parent’s report and his or her own observations to detect a possible motor delay.⁷ 

Gross motor delays are common and vary in severity and outcome. Some children with gross motor delays attain typical milestones at a later age. Other children have a permanent motor disability, such as cerebral palsy, which has a prevalence of 3.3 per 1000.⁸ Other children have developmental coordination disorder (DCD), which affects up to 6% of the population and generally becomes more evident when children enter kindergarten.⁹ When motor delays are pronounced and/or progressive, a specific neuromuscular disorder is more likely to be diagnosed. Motor delays may be the first or most obvious sign of a global developmental disorder. For infants, motor activities are manifestations of early development. It is often the case that children whose developmental trajectories are at risk may experience challenges in meeting early motor milestones. Establishing a specific diagnosis can inform prognostication, service planning, and monitoring for associated developmental and medical disorders. When the underlying etiology of motor delays is genetic, early recognition may assist parents with family planning. A timely diagnosis may reduce family stress related to diagnostic and prognostic uncertainties.⁵ For children with the few neuromuscular diseases for which treatments are available, outcomes may be improved when therapy is implemented early.¹⁰ 

Focus groups were conducted with 49 pediatricians at the AAP National Conference and Exhibition in 2010, and members of the AAP Quality Improvement Innovation Network were surveyed to ascertain current provider practices and needs regarding neuromotor screening.¹¹ Pediatricians described widely varying approaches to motor examinations and identification of delays and expressed uncertainty regarding their ability to detect, diagnose, and manage motor delays in children. Participants requested more education, training, and standardization of the evaluation process, including an algorithm to guide clinical care (Fig 1).

Each child’s motor development should be addressed with other developmental and health topics at every pediatric preventive care visit.

All children should receive periodic developmental screening by using a standardized test, as recommended in the 2006 AAP policy statement “Identifying Infants and Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening.”¹ Most children will demonstrate typical development without identifiable risks for potential delays. In the absence of established risk factors or parent or provider concerns, completion of a general developmental screening test is recommended at the 9-, 18-, and 30-month visits. These ages were selected, in part, on the basis of critical observations of motor skills development.

At the recommended screening visits, the following motor skills should be observed in the young child. These skills are typically acquired at earlier ages, and their absence at these ages signifies delay:

• 9-month visit: The infant should roll to both sides, sit well without support, and demonstrate motor symmetry without established handedness. He or she should be grasping and transferring objects hand to hand.

• 18-month visit: The toddler should sit, stand, and walk independently. He or she should grasp and manipulate small objects. Mild motor delays undetected at the 9-month screening visit may be apparent at 18 months.

• 30-month visit: Most motor delays will have already been identified during previous visits. However, more subtle gross motor, fine motor, speech, and oral motor impairments may emerge at this visit. Progressive neuromuscular disorders may begin to emerge at this time and manifest as a loss of previously attained gross or fine motor skills.

An additional general screening test is recommended at the 48-month visit to identify problems in coordination, fine motor, and graphomotor skills before a child enters kindergarten.

• 48-month visit: The preschool-aged child should have early elementary school skills, with emerging fine motor, handwriting, gross motor, communication, and feeding abilities that promote participation with peers in group activities. Preschool or child care staff concerns about motor development should be addressed. Loss of skills should alert the examiner to the possibility of a progressive disorder.

Continuous developmental surveillance should also occur throughout childhood, with additional screenings performed whenever concerns are raised by parents, child health professionals, or others involved in the care of the child.

A summary of screening and surveillance for motor development based on the AAP “Recommendations for Preventive Pediatric Health Care” (also known as the periodicity schedule) is described in Table 1.¹² Listed are the mean ages at which typically developing children will achieve motor milestones. Marked delay beyond these ages warrants attention but does not necessarily signify a neuromotor disease.

As the 2006 policy states, “Developmental surveillance is a flexible, longitudinal, continuous and cumulative process whereby knowledgeable health care professionals identify children who may have developmental problems. Surveillance can be useful for determining appropriate referrals, providing patient education and family-centered care in support of healthy development, and monitoring the effects of developmental health promotion through early intervention and therapy.” The 5 components of developmental surveillance are as follows: eliciting and attending to the parents’ concerns about their child’s development, documenting and maintaining a developmental history, making accurate observations of the child, identifying risk and protective factors, and maintaining an accurate record of documenting the process and findings.

A great breadth and depth of information is considered in comprehensive developmental surveillance. Much of this information, including prenatal, perinatal, and interval history will accumulate in the child’s health record and should be reviewed at each screening visit.

Developmental screening involves the administration of a brief standardized tool that aids in the identification of children at risk for a developmental disorder. Many screening tools can be completed by parents and scored by nonphysician personnel; pediatric providers interpret the screening results. The aforementioned 2006 policy statement on developmental surveillance and screening provides a list of developmental screening tools and a discussion of how to choose an appropriate screening tool.

The concerns of both parents and child health professionals should be included in determining whether surveillance suggests that the child may be at risk for developmental problems. If parents or health care providers express concern about the child’s development, administration of a developmental screening tool to address the concern may be added.

Pediatricians can elicit key clinical information about a child’s motor development from the child, parents, and family. Key elements are listed in Table 2. It is essential to ask parents broad, open-ended questions and listen carefully for any concerns. Some concerns will be stated explicitly; others may be suggested through statements of perceived differences between a child’s abilities and those of their age-matched peers. To broaden historical perspectives, clinicians can ask if extended family members, educators, or others who know the child well express any concerns about motor development. In instances of birth at earlier than 36 weeks’ gestation, most experts recommend correcting for prematurity for at least the first 24 months of life.¹³ Last, while taking the history, clinicians should carefully watch the child’s posture, play, and spontaneous motor function without the stressful demands of performance under deliberate observation. When children are tired or stressed, direct observation of motor skills may not be possible, and full reliance on historical information is needed.

Children with increased tone may attain motor milestones early, asymmetrically, or “out of order.” These aberrant milestones may include rolling supine to prone before prone to supine, asymmetric propping with sitting, asymmetric grasp, development of handedness before 18 months,¹⁴ and standing before sitting.¹⁵ 

The examination maneuvers described here are focused on medical home visits of children in the ambulatory setting. A discussion of newborn examination within the nursery setting is beyond the scope of this report; however, Guidelines for Perinatal Care, developed by the AAP Committee on Fetus and Newborn and American College of Obstetrics and Gynecology Committee on Obstetric Practice, provides further information.¹⁶ 

When there are concerns regarding the quality or progression of a child’s motor development, evaluation begins with a complete physical examination, with special attention to the neurologic examination and evaluation of vision and hearing. Children with motor delays related to systemic illness often show alterations in their level of interaction with their environment and general arousal. Careful assessments of head circumference, weight, and length/height with interpretation of percentiles according to Centers for Disease Control and Prevention or World Health Organization growth curves are essential and may facilitate early identification of children with microcephaly, macrocephaly, and growth impairments. Often, poor cooperation by the child may interfere with proper measurements, so any unexpected change in growth pattern should be rechecked by the clinician. Drooling or poor weight gain may suggest facial and oral motor weaknesses, and ptosis should prompt clinicians to consider congenital myopathies or lower motor neuron disorders. Respiratory problems, such as tachypnea, retractions, and ineffective airway clearance, can accompany many neuromotor conditions. Careful palpation of the abdomen may reveal organomegaly suggesting glycogen storage diseases, sphingolipidoses, or mucopolysaccharidoses. The astute clinician can use findings from the general pediatric examination to individualize a diagnostic approach for a child with motor delays.

Ideally, children should be well rested and comfortable for neuromotor examinations. However, when toddlers and preschoolers are uncooperative, clinicians can still gain important diagnostic information by observing the quality and quantity of movement.

The cranial nerve examination includes eye movements, response to visual confrontation, and pupillary reactivity. Although fundoscopic examination may be difficult, red reflexes should be detectable and symmetric. The quality of eye opening and closure and facial expression, including smile and cry, should be observed. Oromotor movement can be observed and, in the older child formally tested, by observing palate and tongue movement and, if possible, by drinking through a straw or blowing kisses. Observation for tongue fasciculations and quality of shoulder shrug should be assessed.

Strength is most easily assessed by functional observation. Attention to the quality and quantity of body posture and movement includes antigravity movement in the infant and the sequential transition from tripod sitting with symmetrical posture to walking and then running, climbing, hopping, and skipping in the older child. Clinicians should note any use of a Gower maneuver, characterized by an ambulatory child’s inability to rise from the floor without pulling or pushing up with his arms. Muscle bulk and texture, joint flexibility, and presence or absence of atrophy should be observed. Quality and intensity of grasp is most easily assessed by observation during play.

For the infant, postural tone is assessed by ventral suspension in the younger infant and truncal positioning when sitting and standing in the older infant.¹⁷ Extremity tone can be monitored during maturation by documenting the scarf sign in infants^18,19 and popliteal angles after the first year (see Fig 2).²⁰ Persistence of primitive reflexes and asymmetry or absence of protective reflexes suggest neuromotor dysfunction. Unsteady gait or tremor can be a sign of muscle weakness. Diminution or absence of deep tendon reflexes can occur with lower motor neuron disorders, whereas increased reflexes and an abnormal plantar reflex can be signs of upper motor neuron dysfunction. Neuromotor dysfunction can be accompanied by sensory deficits and should be assessed by testing touch and pain sensation.

In older children, difficulties with sequential motor planning, or praxis, should be differentiated from strength and extrapyramidal problems. Dyspraxia refers to the inability to formulate, plan, and execute complex movements. Assessment includes the presence and quality of age-appropriate gross motor skills (stair climb, 1-foot stand, hop, run, skip, and throw) and fine motor skills (button, zip, snap, tie, cut, use objects, and draw). Many of these children also have hypotonia.²¹ 

After identifying concerns of motor development, primary care clinicians can perform key diagnostic tests. All testing should be performed in the context of the child’s past medical history, including prenatal complications and exposures, perinatal problems, feeding, and growth. Family history is also important to identify any other relatives with developmental or motor issues, recurrent pregnancy loss, stillbirth, or infant death, which may lead to identification of an underlying genetic etiology. Findings on physical examination, such as unusual facial features or other known visceral anomalies, may suggest a specific genetic condition. The state-mandated newborn screening laboratory results should be reviewed, because normal results exclude many disorders and avoid unnecessary testing. Although newborn screening is comprehensive, it does not test for all inborn biochemical disorders.

The algorithm (Fig 1) can be used to help guide appropriate initial testing. Table 3 lists “red flags” that should prompt the primary care pediatrician to expedite referral to diagnostic resources.

Increased tone in a child with neuromotor delay suggests an upper motor neuron problem, such as cerebral palsy. The American Academy of Neurology recommends imaging of the brain, preferably by MRI, for patients suspected of having cerebral palsy.²² This test can be ordered within the medical home at the same time the patient is referred for specialist consultation for diagnosis.

When low to normal tone is identified, especially with concomitant weakness, investigations should target diseases of the lower motor neurons or muscles. Among the most common is Duchenne muscular dystrophy (DMD), characterized by weakness, calf hypertrophy, and sometimes cognitive or social delays. DMD usually presents at 2 to 4 years of age, but signs of weakness may be evident earlier. Becker muscular dystrophy is allelic to DMD but typically presents in older children and with a milder phenotype. Initial testing for all children with motor delay and low tone can be performed within the medical home by measuring the serum creatine phosphokinase (CK) concentration. The CK concentration is significantly elevated in DMD, usually >1000 U/L. As an X-linked disorder, there may be a family history of other affected male family members on the maternal side. However, DMD often presents in the absence of a family history for this disorder, with approximately one-third of cases being new mutations.²³ If the CK concentration is elevated, the diagnosis of DMD can usually be confirmed with molecular sequencing of the DMD gene. Other neuromuscular disorders include diseases of the peripheral motor nerves or muscles, such as myotonic dystrophy, spinal muscular atrophy, mitochondrial disorders, and congenital myasthenia gravis. Testing for these diseases should be performed by subspecialists, because these patients often require electrodiagnostic or specific genetic testing.

Although congenital hypothyroidism will be identified by newborn screening, acquired hypothyroidism and hyperthyroidism can present in later infancy or childhood with motor delay and low to normal tone. It is reasonable to perform thyroid function studies (thyroxine [T4] and thyroid-stimulating hormone) as part of the general laboratory evaluation for children with low tone or neuromuscular weakness, even without classic signs of thyroid disease.

Cerebral palsy classically presents with spasticity, dystonia, or athetosis, but may also result in hypotonia. Children with cerebral palsy may have a history of perinatal insult with concomitant abnormalities on brain imaging. Other causes of hypotonia should be considered before the diagnosis of hypotonic cerebral palsy is given to a child with an uneventful perinatal history and normal brain imaging.

DCD may be present when a child’s motor coordination performance is significantly below norms for age and intellect, unrelated to a definable medical condition that affects neuromotor function (such as cerebral palsy, ataxia, or myopathy). It can affect gait, handwriting, sports and academic participation, and self-help skills. More than half of individuals with DCD remain symptomatic through adolescence and young adulthood. Intervention, especially task-oriented approaches, can improve motor ability.⁸ 

Children with neuromotor abnormalities, who also have failure to thrive, growth abnormalities, dysmorphic facial features, or other visceral anomalies, may have a chromosome abnormality, either common or rare. The American College of Medical Genetics and Genomics recommends microarray testing as the first-line chromosome study.²⁴ Because of the difficulty often encountered in interpretation of results, this test is typically ordered by a subspecialist familiar with this testing. Routine chromosome testing may be appropriate for children with weakness suspected as having recognizable disorders, such as Down syndrome (including mosaic Down syndrome), Turner syndrome, and Klinefelter syndrome. Fragile X syndrome is the most common inherited cause of cognitive impairment, and children with fragile X syndrome may have some element of motor delay. Genetic testing for fragile X syndrome should be considered in both boys and girls, whether they have dysmorphic facial features or a family history.

Common genetic conditions may present with early motor delays (Table 4). The 22q11.2 deletion syndrome (velocardiofacial syndrome) may present with hypotonia and feeding disorder in infancy and delayed motor milestones.²⁵ Noonan syndrome is also a common disorder, and although it is classically associated with short stature, webbed neck, ptosis, and pulmonary stenosis, the phenotype is highly variable, and developmental delays, especially motor delays, are common. Noonan syndrome is genetically heterogeneous and may be caused by mutations in genes in the ras pathway.²⁶ Neurofibromatosis type 1, associated with mutations in the NF1 gene, can lead to developmental delays and hypotonia in infancy and early childhood. This condition should be suspected in children with hypotonia and multiple (greater than 6) café au lait spots.²⁷ Children with known or suspected genetic disorders may benefit from genetic consultation and genetic counseling for the family.

Mild abnormalities that are not accompanied by “red flag” findings (red flag conditions necessitate prompt referral) may be closely followed through “observation,” but a plan for new or worsening symptoms as well as a time-definite follow-up plan must be developed. Families should understand that clinical changes should prompt urgent reevaluation. This includes regression of motor skills, loss of strength, or any concerns with respiration or swallowing. This ensures that the progressive disorders are brought to medical attention immediately.

Depending on the nature of the suspected condition and the age of the child, it may be appropriate to have the child return to his or her medical home for a follow-up visit before the next Bright Futures health supervision visit. This will afford the opportunity for an interval review of noted symptoms, new concerns, and changes in physical examination or other developmental findings.

Education with the family should not be overlooked or delayed, as a suspected condition can cause significant anxiety.²⁸ Although the discussion may not be as in-depth as a situation in which diagnostic studies or referral is involved, families deserve a cogent and appropriate discussion of the findings that are being evaluated and what developmental trajectory is expected. This may help assuage fears and increase compliance with follow-up plans.

All children with suspected neuromotor delay should be referred to early intervention or special education resources. Additionally, concurrent referrals should be made to physical and/or occupational therapists while diagnostic investigations are proceeding.²⁹ Even when a specific neuromotor diagnosis has not been identified, children with motor delays benefit from educationally and medically based therapies.

Each medical home must develop its own local resources and network of subspecialists for assistance with the diagnosis and management of young children with suspected motor delay. Depending on the setting, such subspecialists may include neurologists, developmental pediatricians, geneticists, physiatrists, or orthopedists. In some areas, availability of these resources may be limited, and waiting times may be long.³⁰ Direct physician-to-physician communication is recommended when red flags are identified (Table 3). Sharing digital photographs via a secure Internet connection may further expedite evaluations. However, the absence of red flags does not rule out the presence of significant neuromotor disease, and all children with motor delays should be thoroughly and serially evaluated.

If a developmental disorder is identified, the child should be identified as a child with special health care needs, and chronic-condition management should be initiated (see Step 12b).

If a developmental disorder is not identified through medical and developmental evaluation, the child should be scheduled for an early return visit for further surveillance, as mentioned previously. More frequent visits, with particular attention paid to areas of concern, will facilitate prompt referrals for further evaluation when indicated.

When a child has delays of motor development, that child is identified as a child with special health care needs even if that child does not have a specific disease etiology. Children with special health care needs are defined by the Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Bureau as “...those who have or are at increased risk for a chronic physical, developmental, behavioral, or emotional condition and who also require health and related services of a type or amount beyond that required by children generally.”³¹ 

Children with special health care needs benefit from chronic-condition management, coordination of care, and regular monitoring in the context of their medical homes. Primary care practices are encouraged to create and maintain a registry for the children in the practice who have special health care needs. The medical home provides a triad of key primary care services, including preventive care, acute illness management, and chronic-condition management. A program of chronic-condition management provides proactive care for children and youth with special health care needs, including condition-related office visits, written care plans, explicit comanagement with specialists, appropriate patient education, and effective information systems for monitoring and tracking. Management plans should be based on a comprehensive needs assessment conducted with the family. Management plans should include relevant, measurable, and valid outcomes. These plans should be reviewed and updated regularly. The clinician should actively participate in all care-coordination activities for children with identified motor disorders. Evidence-based decisions regarding appropriate therapies and their scope and intensity should be determined in consultation with the child’s family, therapists, pediatric medical subspecialists, and educators (including early intervention or school-based programs).

Children with established motor disorders often benefit from referral to community-based family-support services, such as respite care, parent-to-parent programs, and advocacy organizations. Some children may qualify for additional benefits, such as supplemental security income, public insurance, waiver programs, and state programs for children and youth with special health care needs (Title V). Parent organizations, such as Family Voices, and condition-specific associations can provide parents with information and support and can also provide an opportunity for advocacy.

Internet resources are available (www.childmuscleweakness.org) for clinicians to view both typical and atypical motor findings. The identification of motor delays (or any chronic condition) in a child can trigger significant psychosocial stress for families.³² The effects of repeated medical visits, testing, and modifications to home and school environments can place a significant burden on even well-functioning families.³³ Appropriate psychological support should be implemented early. A consumer health librarian or medical librarian can be used by families to provide specific resources tailored to individual needs (http://www.nlm.nih.gov/medlineplus/libraries.html).

For conditions with genetic basis or implications for family planning, medical genetics consultation and genetic counseling should be recommended. An international directory of genetics and prenatal diagnosis clinics can be found at http://www.ncbi.nlm.nih.gov/sites/GeneTests/. Additional Web sites, such as www.rarediseases.org, offer information for both physicians and families.

Information on financial assistance programs should also be provided to families of children with established developmental disorders. They may qualify for benefits, such as supplemental security income (http://www.ssa.gov/pgm/ssi.htm), public insurance (http://www.medicaid.gov), and Title V programs for children and youth with special health care needs (http://internet.dscc.uic.edu/dsccroot/titlev.asp). There also may be local community programs that can provide transportation and other assistance.

Separate Current Procedural Terminology (CPT) codes exist for developmental screening (96110: developmental screening) and testing (96111: developmental testing) when completing neuromotor screening and assessment. The relative values for these codes are published in the Medicare Resource-Based Relative Value Scale and reflect physician work, practice expenses, and professional liability expenses. Table 5 outlines the appropriate codes to use when billing for the processes described in the algorithm. Billing processes related to developmental screening and surveillance should be carefully reviewed to ensure that appropriate CPT codes are used to document screening procedures and ensure proper payment. CPT code 96110 does not include any payment for medical provider services. The expectation is that a nonphysician will administer the screening tool(s) to the parent and score the responses. The physician reviews and interprets the screening results; the physician’s work is included in the evaluation and management code used for the child’s visit. The preventive care (or new, consultative, or return visit) code is used with the modifier 25 appended and 96110 listed for each screening tool administered. The CPT code 96111 includes medical provider work. This code would more appropriately be used when the medical provider observes the child performing a neuromotor task and demonstrating a specific developmental skill, using a standardized developmental tool.

The initial responsibility for identifying a child with motor delay rests with the medical home. By using the algorithm presented here, the medical home provider can begin the diagnostic process and make referrals as appropriate. Both during and after diagnosis, communication between the medical home and subspecialists is important,³⁴ and the medical home should remain fully engaged with the child’s care as an integral part of chronic-condition management.

The development of this clinical report was funded by the American Academy of Pediatrics through the Public Health Program to Enhance the Health and Development of Infants and Children through a cooperative agreement (5U58DD000587) with the Centers for Disease Control and Prevention’s National Center on Birth Defects and Developmental Disabilities.

Nancy A. Murphy, MD, Chairperson – Council on Children With Disabilities

Joseph F. Hagan, Jr, MD – Bright Futures Initiatives

Paul H. Lipkin, MD – Council on Children With Disabilities

Michelle M. Macias, MD – Section on Developmental and Behavioral Pediatrics

Dipesh Navsaria, MD, MPH, MSLIS

Garey H. Noritz, MD – Council on Children With Disabilities

Georgina Peacock, MD, MPH – Centers for Disease Control and Prevention/National Center on Birth Defects

Peter L. Rosenbaum, MD

Howard M. Saal, MD – Committee on Genetics

John F. Sarwark, MD – Section on Orthopedics

Mark E. Swanson, MD, MPH – Centers for Disease Control and Prevention/National Center on Birth Defects

Max Wiznitzer, MD – Section on Neurology

Marshalyn Yeargin-Allsopp, MD – Centers for Disease Control and Prevention/National Center on Birth Defects

Rachel Daskalov, MHA

Michelle Zajac Esquivel, MPH

Holly Noteboom Griffin

Stephanie Mucha, MPH

Jane Bernzweig, PhD

AAP

American Academy of Pediatrics

CK

creatine phosphokinase

CPT

Current Procedural Terminology

DCD

developmental coordination disorder

DMD

Duchenne muscular dystrophy