CLINICAL REPORT Motor Delays: Early Identiﬁcation and … · identiﬁcation of delays and expressed uncertainty regarding their ability to detect, diagnose, and manage motor delays

CLINICAL REPORT

Motor Delays: Early Identification and Evaluation

abstractPediatricians often encounter children with delays of motor developmentin their clinical practices. Earlier identification of motor delays allows fortimely referral for developmental interventions as well as diagnosticevaluations and treatment planning. A multidisciplinary expert panel de-veloped an algorithm for the surveillance and screening of children formotor delays within the medical home, offering guidance for the initialworkup and referral of the child with possible delays in motor develop-ment. Highlights of this clinical report include suggestions for formaldevelopmental screening at the 9-, 18-, 30-, and 48-month well-child visits;approaches to the neurologic examination, with emphasis on the assess-ment of muscle tone; and initial diagnostic approaches for medical homeproviders. Use of diagnostic tests to evaluate children with motor delaysare described, including brain MRI for children with high muscle tone,and measuring serum creatine kinase concentration of those with de-creased muscle tone. The importance of pursuing diagnostic tests whileconcurrently referring patients to early intervention programs is empha-sized. Pediatrics 2013;131:e2016–e2027

INTRODUCTION

The American Academy of Pediatrics (AAP) recommends developmentalsurveillance at all preventive care visits and standardized developmentalscreening of all children at ages 9, 18, and 30 months.1 Recently, de-velopmental screening instruments and their clinical interpretationshave emphasized the early detection of delays in language and socialdevelopment, responsive to rising prevalence rates of autism spectrumdisorders in US children.2 The most commonly used developmentalscreening instruments have not been validated on children with motordelays.3,4 Recognizing the equal importance of surveillance and screeningfor motor development in the medical home, this clinical report reviewsthe motor evaluation of children and offers guidelines to the pediatricianregarding an approach to children who demonstrate motor delays andvariations in muscle tone. (This report is aimed at all pediatric pri-mary care providers, including pediatricians, family physicians, nursepractitioners, and physician assistants. Generic terms, such as clinicianand provider, are intended to encompass all pediatric primary careproviders.)

RATIONALE

Gross motor development follows a predictable sequence, reflectingthe functional head-to-toe maturation of the central nervous system.

Garey H. Noritz, MD, Nancy A. Murphy, MD, andNEUROMOTOR SCREENING EXPERT PANEL

KEY WORDSmotor delays, development, screening, neurologic examination,early intervention

ABBREVIATIONSAAP—American Academy of PediatricsCK—creatine phosphokinaseCPT—Current Procedural TerminologyDCD—developmental coordination disorderDMD—Duchenne muscular dystrophy

This document is copyrighted and is property of the AmericanAcademy of Pediatrics and its Board of Directors. All authorshave filed conflict of interest statements with the AmericanAcademy of Pediatrics. Any conflicts have been resolved througha process approved by the Board of Directors. The AmericanAcademy of Pediatrics has neither solicited nor accepted anycommercial involvement in the development of the content ofthis publication.

The guidance in this report does not indicate an exclusivecourse of treatment or serve as a standard of medical care.Variations, taking into account individual circumstances, may beappropriate.

www.pediatrics.org/cgi/doi/10.1542/peds.2013-1056

doi:10.1542/peds.2013-1056

All clinical reports from the American Academy of Pediatricsautomatically expire 5 years after publication unless reaffirmed,revised, or retired at or before that time.

PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275).

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Guidance for the Clinician inRendering Pediatric Care

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Although parents are reliable in reportingtheir child’s gross motor development,5,6

it is up to the clinician to use the parent’sreport and his or her own observationsto detect a possible motor delay.7

Gross motor delays are common andvary in severity and outcome. Somechildren with gross motor delays attaintypical milestones at a later age. Otherchildren have a permanent motor dis-ability, such as cerebral palsy, whichhas a prevalence of 3.3 per 1000.8 Otherchildren have developmental coordi-nation disorder (DCD), which affects upto 6% of the population and generallybecomes more evident when childrenenter kindergarten.9 When motor de-lays are pronounced and/or progres-sive, a specific neuromuscular disorderis more likely to be diagnosed. Motordelays may be the first or most obvioussign of a global developmental dis-order. For infants, motor activities aremanifestations of early development. Itis often the case that children whosedevelopmental trajectories are at riskmay experience challenges in meetingearly motor milestones. Establishinga specific diagnosis can inform prog-nostication, service planning, and mon-itoring for associated developmentaland medical disorders. When the un-derlying etiology of motor delays is ge-netic, early recognition may assistparents with family planning. A timelydiagnosis may reduce family stressrelated to diagnostic and prognosticuncertainties.5 For children with thefew neuromuscular diseases for whichtreatments are available, outcomes maybe improved when therapy is imple-mented early.10

Focus groups were conducted with49 pediatricians at the AAP NationalConference and Exhibition in 2010, andmembers of the AAP Quality ImprovementInnovation Network were surveyed toascertain current provider practices andneeds regarding neuromotor screening.11

Pediatricians described widely varying

approaches to motor examinations andidentification of delays and expresseduncertainty regarding their ability todetect, diagnose, and manage motordelays in children. Participants requestedmore education, training, and stan-dardization of the evaluation process,including an algorithm to guide clinicalcare (Fig 1).

THE ALGORITHM: IDENTIFYINGCHILDREN WITH MOTOR DELAYS:AN ALGORITHM FORSURVEILLANCE AND SCREENING

Step 1. Pediatric Patient atPreventive Care Visit

Each child’s motor development shouldbe addressed with other developmentaland health topics at every pediatricpreventive care visit.

Step 2. Is This a 9-, 18-, 30-, or 48-Month Visit?

All children should receive periodicdevelopmental screening by using astandardized test, as recommended inthe 2006 AAP policy statement “Iden-tifying Infants and Children With De-velopmental Disorders in the MedicalHome: An Algorithm for DevelopmentalSurveillance and Screening.”1 Mostchildren will demonstrate typical de-velopment without identifiable risksfor potential delays. In the absence ofestablished risk factors or parent orprovider concerns, completion of ageneral developmental screening testis recommended at the 9-, 18-, and 30-month visits. These ages were selected,in part, on the basis of critical obser-vations of motor skills development.

At the recommended screening visits,the following motor skills should beobserved in the young child. Theseskills are typically acquired at earlierages, and their absence at these agessignifies delay:

� 9-month visit: The infant should roll toboth sides, sit well without support,

and demonstrate motor symmetrywithout established handedness. Heor she should be grasping and trans-ferring objects hand to hand.

� 18-month visit: The toddler shouldsit, stand, and walk independently.He or she should grasp and manip-ulate small objects. Mild motordelays undetected at the 9-monthscreening visit may be apparent at18 months.

� 30-month visit: Most motor delays willhave already been identified duringprevious visits. However, more subtlegross motor, fine motor, speech, andoral motor impairments may emergeat this visit. Progressive neuromus-cular disorders may begin to emergeat this time and manifest as a loss ofpreviously attained gross or fine mo-tor skills.

An additional general screening test isrecommended at the 48-month visit toidentify problems in coordination, finemotor, and graphomotor skills beforea child enters kindergarten.

� 48-month visit: The preschool-agedchild should have early elementaryschool skills, with emerging finemotor, handwriting, gross motor,communication, and feeding abili-ties that promote participationwith peers in group activities. Pre-school or child care staff concernsabout motor development shouldbe addressed. Loss of skills shouldalert the examiner to the possibil-ity of a progressive disorder.

Continuous developmental surveil-lance should also occur throughoutchildhood, with additional screeningsperformed whenever concerns areraised by parents, child health pro-fessionals, or others involved in thecare of the child.

A summary of screening and surveil-lance for motor development based onthe AAP “Recommendations for Pre-ventive Pediatric Health Care” (also

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known as the periodicity schedule) isdescribed in Table 1.12 Listed are themean ages at which typically de-veloping children will achieve motormilestones. Marked delay beyondthese ages warrants attention butdoes not necessarily signify a neu-romotor disease.

Step 3a. Perform DevelopmentalSurveillance

As the 2006 policy states, “Developmentalsurveillance is a flexible, longitudinal,continuous and cumulative processwhereby knowledgeable health careprofessionals identify children whomay have developmental problems.

Surveillance can be useful fordetermining appropriate referrals,providing patient education and family-centered care in support of healthydevelopment, and monitoring theeffects of developmental health pro-motion through early interventionand therapy.” The 5 components of

FIGURE 1Identifying children with motor delays: an algorithm for surveillance and screening.

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developmental surveillance are asfollows: eliciting and attending to theparents’ concerns about their child’sdevelopment, documenting and main-taining a developmental history, mak-ing accurate observations of the child,identifying risk and protective factors,and maintaining an accurate record ofdocumenting the process and findings.

A great breadth and depth of infor-mation is considered in comprehen-sive developmental surveillance. Muchof this information, including prenatal,perinatal, and interval history willaccumulate in the child’s health recordand should be reviewed at eachscreening visit.

Step 3b. Administer Screening Tool

Developmental screening involves theadministration of a brief standardizedtool that aids in the identification ofchildren at risk for a developmentaldisorder. Many screening tools can becompleted by parents and scored bynonphysician personnel; pediatric pro-viders interpret the screening results.The aforementioned 2006 policy state-ment on developmental surveillance andscreening provides a list of develop-mental screening tools and a discus-sion of how to choose an appropriatescreening tool.

Step 4. Do Surveillance and/orScreening DemonstrateNeuromotor Concern?

Step 5a. Perform Remainder ofBright Futures Health SupervisionExamination

Step 5b. Consider AdministeringScreening Tool if Not Already Done

The concerns of both parents and childhealth professionals should be in-cluded in determining whether sur-veillance suggests that the child maybe at risk for developmental problems.If parents or health care providersexpress concern about the child’sdevelopment, administration of a de-velopmental screening tool to ad-dress the concern may be added.

Step 6. Obtain/Review ExpandedHistory and Perform NeurologicExamination

Pediatricians can elicit key clinical in-formation about a child’s motor de-velopment from the child, parents, andfamily. Key elements are listed inTable 2. It is essential to ask parentsbroad, open-ended questions and lis-ten carefully for any concerns. Some

concerns will be stated explicitly; othersmay be suggested through statementsof perceived differences between achild’s abilities and those of their age-matched peers. To broaden historicalperspectives, clinicians can ask if ex-tended family members, educators, orothers who know the child well ex-press any concerns about motor de-velopment. In instances of birth atearlier than 36 weeks’ gestation, mostexperts recommend correcting forprematurity for at least the first 24months of life.13 Last, while taking thehistory, clinicians should carefullywatch the child’s posture, play, andspontaneous motor function withoutthe stressful demands of performanceunder deliberate observation. Whenchildren are tired or stressed, directobservation of motor skills may not bepossible, and full reliance on historicalinformation is needed.

Children with increased tone may attainmotor milestones early, asymmetrically,or “out of order.” These aberrant mile-stones may include rolling supine toprone before prone to supine, asym-metric propping with sitting, asymmet-ric grasp, development of handednessbefore 18 months,14 and standing be-fore sitting.15

TABLE 1 Motor Milestones for Developmental Surveillance at Preventive Care Visitsa

Age Gross Motor Milestones Fine Motor Milestones

2 mo Lifts head and chest in prone4 mo Rolls over prone to supine; supports on elbows

and wrists in proneHands unfisted; plays with fingers in midline; grasps object

6 mo Rolls over supine to prone; sits without support Reaches for cubes and transfers; rakes small object with 4 fingers9 mob Pulls to stand; comes to sit from lying; crawls Picks up small object with 3 fingers1 y Walks independently; stands Puts 1 block in a cup; bangs 2 objects together; picks up small object with 2-finger pincer grasp15 mo Walks backward; runs Scribbles in imitation; dumps small object from bottle, with demonstration18 mob Walks up steps with hand held Dumps small object from bottle spontaneously; tower of 2 cubes; scribbles spontaneously; puts

10 blocks in a cup2 y Rides on toy without pedals; jumps up Builds tower and horizontal train with 3 blocks2.5 yb Begins to walk up steps alternating feet Imitates horizontal and vertical lines; builds a train with a chimney with 4 blocks3 y Pedals; climbs on and off furniture Copies a circle drawing; draws a person with head and one other body part; builds a bridge

with 3 blocks4 y Climbs stairs without support; skips on 1 foot Draw a person with 6 parts, simple cross; buttons medium-sized buttons

Adapted from Capute AJ, Shapiro BK, Palmer FB, Ross A, Wachtel RC. Normal gross motor development: the influences of race, sex and socioeconomic status. Dev Med Child Neurol. 1985;27(5):635–643; Accardo PJ, Capute AJ. The Capute Scales: Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS). Baltimore, MD: Paul H. Brooks; 2005; and Beery KE,Beery NA. The Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) Administration, Scoring and Teaching Manual. Minneapolis, MN: NCS Pearson Inc; 2004.a These milestones generally represent mean age of performance of these skills.b It is recommended that a standardized developmental test be performed at these visits.




Physical Examination

The examination maneuvers describedhere are focused on medical home visitsof children in the ambulatory setting.A discussion of newborn examinationwithin the nursery setting is beyond thescope of this report; however, Guide-lines for Perinatal Care, developed bythe AAP Committee on Fetus and New-born and American College of Obstetricsand Gynecology Committee on ObstetricPractice, provides further information.16

General Examination

When there are concerns regardingthe quality or progression of a child’smotor development, evaluation beginswith a complete physical examination,with special attention to the neuro-logic examination and evaluation ofvision and hearing. Children withmotor delays related to systemic ill-ness often show alterations in theirlevel of interaction with their envi-ronment and general arousal. Carefulassessments of head circumference,weight, and length/height with inter-pretation of percentiles according toCenters for Disease Control and Pre-vention or World Health Organizationgrowth curves are essential and mayfacilitate early identification of childrenwith microcephaly, macrocephaly, andgrowth impairments. Often, poor co-operation by the child may interferewith proper measurements, so anyunexpected change in growth patternshould be rechecked by the clinician.Drooling or poor weight gain may sug-gest facial and oral motor weaknesses,and ptosis should prompt clinicians

to consider congenital myopathies orlower motor neuron disorders. Re-spiratory problems, such as tachypnea,retractions, and ineffective airwayclearance, can accompany many neu-romotor conditions. Careful palpation ofthe abdomen may reveal organomegalysuggesting glycogen storage diseases,sphingolipidoses, or mucopolysacchar-idoses. The astute clinician can usefindings from the general pediatric ex-amination to individualize a diagnosticapproach for a child with motor delays.

Neuromotor Examination

Ideally, children should be well restedand comfortable for neuromotor ex-aminations. However, when toddlersand preschoolers are uncooperative,clinicians can still gain important di-agnostic information by observing thequality and quantity of movement.

The cranial nerve examination includeseye movements, response to visualconfrontation, and pupillary reactivity.Although fundoscopic examination maybe difficult, red reflexes should be de-tectable and symmetric. The quality ofeye opening and closure and facialexpression, including smile and cry,should be observed. Oromotor move-ment can be observed and, in the olderchild formally tested, by observingpalate and tongue movement and, ifpossible, by drinking through a strawor blowing kisses. Observation fortongue fasciculations and quality ofshoulder shrug should be assessed.

Strength is most easily assessed byfunctional observation. Attention to thequality and quantity of body posture and

movement includes antigravity move-ment in the infant and the sequentialtransition from tripod sitting withsymmetrical posture to walking andthen running, climbing, hopping, andskipping in the older child. Cliniciansshould note any use of a Gower ma-neuver, characterized by an ambulatorychild’s inability to rise from the floorwithout pulling or pushing up with hisarms. Muscle bulk and texture, jointflexibility, and presence or absence ofatrophy should be observed. Qualityand intensity of grasp is most easilyassessed by observation during play.

For the infant, postural tone is assessedby ventral suspension in the youngerinfant and truncal positioning whensitting and standing in the older in-fant.17 Extremity tone can be monitoredduring maturation by documenting thescarf sign in infants18,19 and poplitealangles after the first year (see Fig 2).20

Persistence of primitive reflexes andasymmetry or absence of protectivereflexes suggest neuromotor dysfunc-tion. Unsteady gait or tremor can bea sign of muscle weakness. Diminutionor absence of deep tendon reflexes canoccur with lower motor neuron dis-orders, whereas increased reflexesand an abnormal plantar reflex can besigns of upper motor neuron dysfunc-tion. Neuromotor dysfunction can beaccompanied by sensory deficits andshould be assessed by testing touchand pain sensation.

In older children, difficulties with se-quential motor planning, or praxis,should be differentiated from strengthand extrapyramidal problems. Dyspraxiarefers to the inability to formulate, plan,and execute complex movements. As-sessment includes the presence andquality of age-appropriate gross motorskills (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 alsohave hypotonia.21

TABLE 2 Key Elements of the Motor History

Key Elements of Motor History Example

Delayed acquisition of skill Is there anything your child is not doing that you think heor she should be able to do?

Involuntary movements or coordinationimpairments

Is there anything your child is doing that youare concerned about?

Regression of skill Is there anything your child used to be able to do thathe or she can no longer do?

Strength, coordination, and enduranceissues

Is there anything other children your child’s age cando that are difficult for your child?


Step 7. Are the History orExamination Results Concerning?

After identifying concerns of motordevelopment, primary care clinicianscan perform key diagnostic tests. Alltesting should be performed in thecontext of the child’s past medical his-tory, including prenatal complicationsand exposures, perinatal problems,feeding, and growth. Family history isalso important to identify any otherrelatives with developmental or motorissues, recurrent pregnancy loss, still-birth, or infant death, which may lead toidentification of an underlying geneticetiology. Findings on physical examina-tion, such as unusual facial features orother known visceral anomalies, maysuggest a specific genetic condition.The state-mandated newborn screeninglaboratory results should be reviewed,because normal results exclude manydisorders and avoid unnecessary test-ing. Although newborn screening is

comprehensive, it does not test for allinborn biochemical disorders.

The algorithm (Fig 1) can be used tohelp guide appropriate initial testing.Table 3 lists “red flags” that shouldprompt the primary care pediatricianto expedite referral to diagnosticresources.

Step 8. High, Normal, or Low Tone?

Step 9a. Consider Neuroimaging

Increased tone in a child with neuro-motor delay suggests an upper motorneuron problem, such as cerebralpalsy. The American Academy of Neu-rology recommends imaging of thebrain, preferably by MRI, for patientssuspected of having cerebral palsy.22

This test can be ordered within themedical home at the same time thepatient is referred for specialist con-sultation for diagnosis.

Step 9b. Measure CreatinePhosphokinase andThyroid-Stimulating HormoneConcentrations

When low to normal tone is identified,especially with concomitant weakness,investigations should target diseasesof the lower motor neurons or mus-cles. Among the most common is Du-chenne muscular dystrophy (DMD),characterized by weakness, calf hy-pertrophy, and sometimes cognitive orsocial delays. DMD usually presents at2 to 4 years of age, but signs ofweakness may be evident earlier.Becker muscular dystrophy is allelic toDMD but typically presents in olderchildren and with a milder phenotype.Initial testing for all children withmotor delay and low tone can beperformed within the medical home bymeasuring the serum creatine phos-phokinase (CK) concentration. The CKconcentration is significantly elevatedin DMD, usually >1000 U/L. As anX-linked disorder, there may bea family history of other affected malefamily members on the maternal side.However, DMD often presents in theabsence of a family history for thisdisorder, with approximately one-thirdof cases being new mutations.23 If theCK concentration is elevated, the di-agnosis of DMD can usually be con-firmed with molecular sequencing ofthe DMD gene. Other neuromusculardisorders include diseases of the pe-ripheral motor nerves or muscles, suchas myotonic dystrophy, spinal muscularatrophy, mitochondrial disorders, andcongenital myasthenia gravis. Testingfor these diseases should be per-formed by subspecialists, becausethese patients often require electro-diagnostic or specific genetic testing.

Although congenital hypothyroidismwill be identified by newborn screen-ing, acquired hypothyroidism and hy-perthyroidism can present in laterinfancy or childhood with motor delay

FIGURE 2Examples of physical examination maneuvers. Adapted from Nercuri E, Haataja L, Dubowitz L.Neurological assessment in normal young infants. In: Cioni C, Mercuri E, eds. Neurological Assessmentin the First Two Years of Life. London, UK: Mac Keith Press; 2007:30–31. a In term infants, thesefindings do not change significantly after 3 months of age.




and low to normal tone. It is reason-able to perform thyroid functionstudies (thyroxine [T4] and thyroid-stimulating hormone) as part of thegeneral laboratory evaluation forchildren with low tone or neuromus-cular weakness, even without classicsigns of thyroid disease.

Cerebral palsy classically presentswith spasticity, dystonia, or athetosis,but may also result in hypotonia.Children with cerebral palsy may havea history of perinatal insult with con-comitant abnormalities on brain im-aging. Other causes of hypotonia shouldbe considered before the diagnosis ofhypotonic cerebral palsy is given toa child with an uneventful perinatalhistory and normal brain imaging.

DCD may be present when a child’smotor coordination performance issignificantly below norms for age andintellect, unrelated to a definable med-ical condition that affects neuromotorfunction (such as cerebral palsy, ataxia,or myopathy). It can affect gait, hand-writing, sports and academic partici-pation, and self-help skills. More thanhalf of individuals with DCD remainsymptomatic through adolescence andyoung adulthood. Intervention, espe-cially task-oriented approaches, canimprove motor ability.8

Children with neuromotor abnormali-ties, who also have failure to thrive,growth abnormalities, dysmorphicfacial features, or other visceralanomalies, may have a chromosome

abnormality, either common or rare.The American College of Medical Ge-netics and Genomics recommendsmicroarray testing as the first-linechromosome study.24 Because of thedifficulty often encountered in in-terpretation of results, this test istypically ordered by a subspecialistfamiliar with this testing. Routinechromosome testing may be appro-priate for children with weaknesssuspected as having recognizable dis-orders, such as Down syndrome (in-cluding mosaic Down syndrome),Turner syndrome, and Klinefelter syn-drome. Fragile X syndrome is the mostcommon inherited cause of cognitiveimpairment, and children with fragile Xsyndrome may have some element ofmotor delay. Genetic testing for fragileX syndrome should be considered inboth boys and girls, whether they havedysmorphic facial features or a familyhistory.

Common genetic conditions maypresent with early motor delays(Table 4). The 22q11.2 deletion syn-drome (velocardiofacial syndrome)may present with hypotonia andfeeding disorder in infancy anddelayed motor milestones.25 Noonansyndrome is also a common disorder,and although it is classically associ-ated with short stature, webbedneck, ptosis, and pulmonary stenosis,the phenotype is highly variable,and developmental delays, especiallymotor delays, are common. Noonan

syndrome is genetically heteroge-neous and may be caused by muta-tions in genes in the ras pathway.26

Neurofibromatosis type 1, associatedwith mutations in the NF1 gene, canlead to developmental delays and hy-potonia in infancy and early child-hood. This condition should besuspected in children with hypotoniaand multiple (greater than 6) café aulait spots.27 Children with known orsuspected genetic disorders maybenefit from genetic consultation andgenetic counseling for the family.

Step 10. Refer to EarlyIntervention/Child Find, andConsult/Refer to AppropriatePediatric Subspecialists, andPerform Remainder of BrightFutures Health SupervisionExamination

Observation

Mild abnormalities that are not ac-companied by “red flag” findings (redflag conditions necessitate prompt re-ferral) may be closely followed through“observation,” but a plan for new orworsening symptoms as well asa time-definite follow-up plan must bedeveloped. Families should understandthat clinical changes should prompturgent reevaluation. This includes re-gression of motor skills, loss ofstrength, or any concerns with respi-ration or swallowing. This ensures thatthe progressive disorders are broughtto medical attention immediately.

TABLE 3 “Red Flags” in the Evaluation of a Child With Neuromotor Delay

Red Flags: Indications for Prompt Referral Implications

Elevated CK to greater than 3× normal values (boys and girls) Muscle destruction, such as in DMD, Becker muscular dystrophy,other disorders of muscles

Fasciculations (most often but not exclusively seen in the tongue) Lower motor neuron disorders (spinal muscular atrophy; risk of rapid deteriorationin acute illness)

Facial dysmorphism, organomegaly, signs of heart failure,and early joint contractures

Glycogen storage diseases (mucopolysaccharidosis, Pompe disease may improvewith early enzyme therapy)

Abnormalities on brain MRI Neurosurgical consultation if hydrocephalus or another surgical condition is suspectedRespiratory insufficiency with generalized weakness Neuromuscular disorders with high risk of respiratory failure during acute illness

(consider inpatient evaluation)Loss of motor milestones Suggestive of neurodegenerative processMotor delays present during minor acute illness Mitochondrial myopathies often present during metabolic stress


Depending on the nature of the sus-pected condition and the age of thechild, it may be appropriate to have thechild return to his or her medicalhome for a follow-up visit before thenext Bright Futures health supervisionvisit. This will afford the opportunity

for an interval review of noted symp-toms, new concerns, and changes inphysical examination or other de-velopmental findings.

Education with the family should notbe overlooked or delayed, as a sus-pected condition can cause significant

anxiety.28 Although the discussion maynot be as in-depth as a situation inwhich diagnostic studies or referral isinvolved, families deserve a cogentand appropriate discussion of the find-ings that are being evaluated and whatdevelopmental trajectory is expected.

TABLE 4 Common Genetic Disorders for Which Neuromotor Delays May Be a Presenting Feature

Condition Inheritance Clinical Testing Clinical Caveats

Angelman syndrome Sporadic Methylation testing forPrader-Willi/Angelman syndromecritical region, gene sequencingof UBE3A gene

Infantile hypotonia and delayed motormilestones, usually present withglobal delays; dysmorphic featuresare subtle in infancy.

Chromosome disorders Many sporadic; high recurrence riskfor unbalanced translocationsif 1 parent has a balancedtranslocation

Chromosome analysis,single nucleotidepolymorphism microarray

Some patients will have multipleanomalies and will have globaldevelopmental delays. Some maypresent in infancy or early childhoodwith delayed motor and/orspeech milestones.

Down syndrome Chromosome mosaicism also seen.Klinefelter syndromeRare deletions and duplicationsDeletion 22q11 syndrome

(velocardiofacial syndrome)Autosomal dominant(most cases new mutations)

Fluorescence in situ hybridization(FISH) for deletion 22q11.2

90% of cases new mutations. Feeding andspeech disorders and cognitiveimpairment also seen. >50% will havea congenital heart defect.

DMD X-linked recessive CK, sequencing of dystrophin gene Becker and Duchenne musculardystrophies are caused by mutations indifferent regions of the dystrophingene. Becker muscular dystrophy hasa later onset of symptoms with a lesssevere course; 67% of cases areinherited, 33% are new mutations.

Becker muscular dystrophy

Fragile X syndrome X-linked Gene sequencing and methylationanalysis of FMR1 gene

Usually have global delays and cognitiveimpairment but may present in infancyor early childhood with predominantlymotor delays. Males affected primarily,but females with FMR1 expansions mayalso be affected.

Mitochondrial myopathies Autosomal recessive; Constitutional and mitochondrialgenetic testing, lactate/pyruvatelevels and ratio, serumamino acids

Genetic heterogeneity. May not present ininfancy. Also at risk for cardiomyopathy,vision loss, hearing loss, cognitivedisabilities.

X-linked recessivemitochondrial inheritance

Myotonic muscular dystrophy Autosomal dominant Gene sequencing for DMPK gene May see anticipation with progressionof phenotype in subsequent generations.

Neurofibromatosis type 1 (NF1) Autosomal dominant Usually a clinical diagnosis, genesequencing NF1 gene

50% new mutations. Hypotonia mostevident in infancy and earlychildhood. Suspect NF1 if hypotoniaseen with multiple café au lait spots.

Noonan syndrome Autosomal dominant Gene sequencing for PTPN11 gene,genetically heterogeneous andmultiple gene sequencing panelsare available

Genetic heterogeneity. Commonly associatedwith short stature, ptosis, learning anddevelopmental delays, hypotonia,pulmonary stenosis, cryptorchidism,cardiomyopathy.

Prader-Willi syndrome Sporadic DNA methylation testing forPrader-Willi/Angelman syndromecritical region

Hypogonadism, especially in boys. Hypotoniamost evident in infancy and may beprofound.

Spinal muscular atrophy, includingcongenital axonal neuropathy,Werdnig-Hoffmann disease,Kugelberg-Welander disease

Autosomal recessive Gene deletion or truncation studiesfor SMN1 gene (95% to98% of cases)

Usually presents in early infancy with severehypotonia. Milder forms identifiedat later ages.




This may help assuage fears and in-crease compliance with follow-up plans.

Resources

All children with suspected neuromotordelay should be referred to early in-tervention or special education resour-ces. Additionally, concurrent referralsshould be made to physical and/or oc-cupational therapists while diagnosticinvestigations are proceeding.29 Evenwhen a specific neuromotor diagnosishas not been identified, children withmotor delays benefit from educationallyand medically based therapies.

Each medical home must develop itsown local resources and network ofsubspecialists for assistance with thediagnosis and management of youngchildren with suspected motor delay.Depending on the setting, such sub-specialists may include neurologists,developmental pediatricians, geneti-cists, physiatrists, or orthopedists. Insome areas, availability of theseresources may be limited, and waitingtimes may be long.30 Direct physician-to-physician communication is recom-mended when red flags are identified(Table 3). Sharing digital photographsvia a secure Internet connection mayfurther expedite evaluations. However,the absence of red flags does not ruleout the presence of significant neuro-motor disease, and all children withmotor delays should be thoroughly andserially evaluated.

Step 11. Is a DevelopmentalDisorder Identified?

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

Step 12a. Ongoing DevelopmentalMonitoring

If a developmental disorder is not iden-tified through medical and develop-mental evaluation, the child should be

scheduled for an early return visit forfurther surveillance, as mentionedpreviously. More frequent visits, withparticular attention paid to areas ofconcern, will facilitate prompt referralsfor further evaluation when indicated.

Step 12b. Identify as a Child WithSpecial Health Care Needs andInitiate Chronic ConditionManagement

When a child has delays of motordevelopment, that child is identified asa child with special health care needseven if that child does not havea specific disease etiology. Childrenwith special health care needs aredefined by the Department of Healthand Human Services, Health Resourcesand Services Administration, Maternaland Child Health Bureau as “...thosewho have or are at increased risk fora chronic physical, developmental,behavioral, or emotional conditionand who also require health and re-lated services of a type or amountbeyond that required by childrengenerally.”31

Children with special health care needsbenefit from chronic-condition manage-ment, coordination of care, and regularmonitoring in the context of their med-ical homes. Primary care practices areencouraged to create and maintaina registry for the children in the practicewho have special health care needs. Themedical home provides a triad of keyprimary care services, including pre-ventive care, acute illness management,and chronic-condition management.A program of chronic-condition man-agement provides proactive care forchildren and youth with special healthcare needs, including condition-relatedoffice visits, written care plans, ex-plicit comanagement with specialists,appropriate patient education, and ef-fective information systems for mon-itoring and tracking. Management plansshould be based on a comprehensive

needs assessment conducted with thefamily. Management plans should in-clude relevant, measurable, and validoutcomes. These plans should bereviewed and updated regularly. Theclinician should actively participate inall care-coordination activities forchildren with identified motor dis-orders. Evidence-based decisions re-garding appropriate therapies andtheir scope and intensity should bedetermined in consultation with thechild’s family, therapists, pediatricmedical subspecialists, and educators(including early intervention or school-based programs).

Children with established motor dis-orders often benefit from referralto community-based family-supportservices, such as respite care, parent-to-parent programs, and advocacyorganizations. Some children mayqualify for additional benefits, such assupplemental security income, publicinsurance, waiver programs, and stateprograms for children and youth withspecial health care needs (Title V).Parent organizations, such as FamilyVoices, and condition-specific associ-ations can provide parents with in-formation and support and can alsoprovide an opportunity for advocacy.

RESOURCES

Internet resources are available (www.childmuscleweakness.org) for clini-cians to view both typical and atypicalmotor findings. The identification ofmotor delays (or any chronic condi-tion) in a child can trigger significantpsychosocial stress for families.32 Theeffects of repeated medical visits,testing, and modifications to home andschool environments can place a sig-nificant burden on even well-functioningfamilies.33 Appropriate psychologicalsupport should be implemented early. Aconsumer health librarian or medicallibrarian can be used by families toprovide specific resources tailored to


www.childmuscleweakness.org

www.childmuscleweakness.org

individual needs (http://www.nlm.nih.gov/medlineplus/libraries.html).

For conditions with genetic basis orimplications for family planning, med-ical genetics consultation and geneticcounseling should be recommended. Aninternational directory of genetics andprenatal diagnosis clinics can befound at http://www.ncbi.nlm.nih.gov/sites/

GeneTests/. Additional Web sites, suchas www.rarediseases.org, offer in-formation for both physicians andfamilies.

Information on financial assistanceprograms should also be provided tofamilies of children with establisheddevelopmental disorders. They mayqualify for benefits, such as supplemental

security income (http://www.ssa.gov/pgm/ssi.htm), public insurance (http://www.medicaid.gov), and Title V pro-grams for children and youth withspecial health care needs (http://in-ternet.dscc.uic.edu/dsccroot/titlev.asp).There also may be local communityprograms that can provide trans-portation and other assistance.

TABLE 5 CPT Codes for Developmental Screening

Services/Step in Algorithm Notes CPT Code Comments

Pediatric preventive care visit All preventive care visits should includedevelopmental surveillance; screeningis performed as needed or at periodicintervals

99381–99394 (EPSDT)

Developmental/medical evaluation:Office or Other Outpatient ServicesCodes; New Patient

If performed by the physician as a new patientoutpatient office visit

99201-99205 99204 is used for evaluations performedby the physician that are detailed andmoderately complex or take at least45 min (with more than half spentcounseling); 99205 is used forevaluations that are comprehensiveand highly complex or take 60 min(with more than half spent counseling)

Developmental/medical evaluation:Office or Other Outpatient ServicesCodes; Established Patient

If performed by the physician as an outpatientoffice visit

99210–99215 99214 is used for evaluations performedby the physician that are detailed andmoderately complex or take at least25 min (with more than half spentcounseling); 99215 is used forevaluations that are comprehensive andhighly complex or take 40 min (withmore than half spent counseling)

Developmental/medicalevaluation/Office or OtherOutpatient Consultations Codes

If performed by the physician as an outpatientoffice visit

99241–99245 99244 is used for “moderate activities”of up to 60 min (with more than halfspent counseling); 99245 is used for“high” activity of up to 80 min (withmore than half spent counseling)

Developmental screening Does not require any physician work; rather,clinical staff can score results and provide tophysician for interpretation as part of E/M

96110 Reported in addition to E/M servicesprovided on the same date

Developmental testing Used for extended developmental testing typicallyprovided by the medical provider (oftenup to 1 h), including the evaluationinterpretation and report

96111 Reported in addition to E/M servicesprovided on the same date

Identify as a child with special healthcare needs, and initiate chroniccondition management

Children with special health care needs are likelyto require expanded time and a higher level ofmedical decision-making found in these“higher-level” outpatient codes; these codes areappropriate for services in the office and foroutpatient facility services for establishedpatients; these codes may be reported usingtime alone as the factor if more than halfof the reported time is spent in counseling

99211–99215 As above

Prolonged services At any point during the algorithm when outpatientoffice or consultation codes are used, prolongedphysician service codes may be reported inaddition when visits require considerably moretime than typical for the base code alone; bothface-to-face and non–face-to-face codesare available in CPT

99354 99354 for first 30–74 min of outpatientface-to-face prolonged services

99355 99355 for each additional 30 min99358 99358 for first 30–74 min of

non–face-to-face prolonged services99359 99359 for each additional 30 min

E/M, evaluation and management; EPSDT, Early and Periodic Screening, Diagnostic and Treatment program.




http://www.nlm.nih.gov/medlineplus/libraries.html

http://www.nlm.nih.gov/medlineplus/libraries.html

http://www.ncbi.nlm.nih.gov/sites/GeneTests/

http://www.ncbi.nlm.nih.gov/sites/GeneTests/

www.rarediseases.org

http://www.ssa.gov/pgm/ssi.htm

http://www.ssa.gov/pgm/ssi.htm

http://www.medicaid.gov

http://www.medicaid.gov

http://internet.dscc.uic.edu/dsccroot/titlev.asp

http://internet.dscc.uic.edu/dsccroot/titlev.asp

DEVELOPMENTAL SCREENINGBILLING AND CODING

Separate Current Procedural Ter-minology (CPT) codes exist for de-velopmental screening (96110:developmental screening) and testing(96111: developmental testing) whencompleting neuromotor screening andassessment. The relative values forthese codes are published in the Medi-care Resource-Based Relative ValueScale and reflect physician work, prac-tice expenses, and professional liabilityexpenses. Table 5 outlines the appro-priate codes to use when billing for theprocesses described in the algorithm.Billing processes related to devel-opmental screening and surveillanceshould be carefully reviewed to ensurethat appropriate CPT codes are used todocument screening procedures andensure proper payment. CPT code96110 does not include any paymentfor medical provider services. The ex-pectation is that a nonphysician willadminister the screening tool(s) tothe parent and score the responses. Thephysician reviews and interprets thescreening results; the physician’s workis included in the evaluation and man-agement code used for the child’s visit.The preventive care (or new, consulta-tive, or return visit) code is used with

the modifier 25 appended and 96110listed for each screening tool adminis-tered. The CPT code 96111 includesmedical provider work. This code wouldmore appropriately be used when themedical provider observes the childperforming a neuromotor task anddemonstrating a specific developmentalskill, using a standardized devel-opmental tool.

CONCLUSIONS

The initial responsibility for identifyinga child with motor delay rests with themedical home. By using the algorithmpresented here, the medical homeprovider can begin the diagnosticprocess and make referrals as ap-propriate. Both during and after di-agnosis, communication between themedical home and subspecialists isimportant,34 and the medical homeshould remain fully engaged with thechild’s care as an integral part ofchronic-condition management.

ACKNOWLEDGMENTThe development of this clinical reportwas funded by the American Academyof Pediatrics through the Public HealthProgram to Enhance the Health andDevelopment of Infants and Childrenthrough a cooperative agreement

(5U58DD000587) with the Centers forDisease Control and Prevention’s Na-tional Center on Birth Defects and De-velopmental Disabilities.

NEUROMOTOR SCREENING EXPERTPANELNancy A. Murphy, MD, Chairperson – Council onChildren With DisabilitiesJoseph F. Hagan, Jr, MD – Bright Futures Ini-tiativesPaul H. Lipkin, MD – Council on Children WithDisabilitiesMichelle M. Macias, MD – Section on De-velopmental and Behavioral PediatricsDipesh Navsaria, MD, MPH, MSLISGarey H. Noritz, MD – Council on Children WithDisabilitiesGeorgina Peacock, MD, MPH – Centers forDisease Control and Prevention/National Cen-ter on Birth DefectsPeter L. Rosenbaum, MDHoward M. Saal, MD – Committee on GeneticsJohn F. Sarwark, MD – Section on OrthopedicsMark E. Swanson, MD, MPH – Centers for Dis-ease Control and Prevention/National Centeron Birth DefectsMax Wiznitzer, MD – Section on NeurologyMarshalyn Yeargin-Allsopp, MD – Centers forDisease Control and Prevention/National Cen-ter on Birth Defects

STAFFRachel Daskalov, MHAMichelle Zajac Esquivel, MPHHolly Noteboom GriffinStephanie Mucha, MPH

PROJECT CONSULTANTJane Bernzweig, PhD

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