Dr Valerie OrrConsultant in Paediatric Neurodisability

RHSC, Yorkhill

Objectives

To be able to identify abnormal motor development

To develop understanding of common motor disorders

Does early detection matter?Parents value early diagnosisImproved outcomeImproved quality of life for child and familyAccess to educational and social services

‘Early detection is of little value unless parents subsequently experience a well-organised service with a clear referral pathway to definitive diagnosis and management’

Ref: Health for all Children 4th Edition (Hall 4)

How do we identify children with abnormal development?

Follow-up of ‘high risk’ infants

ScreeningListening to parentsOpportunistic

recognition

Ref. Hall 4

Gross motor milestones – when to refer

Head control 4 monthsSits unsupported 9 monthsStands independently 12 monthsWalks independently 18 months

*Remember to adjust for prematurity until 2yrs

Features that may suggest underlying motor disorder

Delayed motor milestonesAsymmetrical movement patternsAbnormalities of muscle tonePersisting primitive reflexesOther difficulties

e.g. feeding difficulties

unexplained irritabilityrespiratory problems

Worrying signs / Red flags

Not reaching & grasping objects by 6 months

Hand preference before 1 year Hypertonicity

e.g. closed hand posture, extensor posturing, scissoring

HypotoniaLoss of previously acquired motor skills at

any age

Floppy infant – assessment

HistoryPregnancy and birthFeedingDevelopment

ExaminationWeight & OFC ?thrivingFacial features ?

dysmorphismMovement ?antigravity

mvts

Floppy infant - causes

Prematurity, illness & drugs - transient hypotonia‘Benign congenital hypotonia’Global developmental delayEvolving cerebral palsyGenetic syndromes

e.g. Downs, Prader-Willi syndrome

Neuromuscular problems (rare!)e.g. congenital myotonic dystrophy,

spinal muscular atrophy

Clinical scenario

A mother brings her 18mth old son to thesurgery with a minor illness. She mentions

thatshe is concerned that he is not yet walking.

What particular points would you look for in the history and examination?

What action might you take?

Delayed walking (>18mths)

Normal variantsAssociated with bottom shufflingCerebral palsy or minor neurological

problems <10%Consider CK in boys

Toe walking

CausesIdiopathic toe walkingMuscle spasticity

e.g. cerebral palsy, spinal cord lesion

Muscle disease e.g. Duchenne muscular dystrophy, Charcot Marie Tooth

Treatments depend on causee.g. physiotherapy, casting, orthotics, surgery

Cerebral Palsy: a multi-system disorderDescription not diagnosis!

Primarily a motor disorder

Other impairments often associatedVision CognitionHearing FeedingManual dexterity SeizuresSpeech & language Behaviour problems

Aetiology of cerebral palsy

Incidence ~2 per 1000 live birthsAntenatal ~70%

e.g. prematurity, fetal & neonatal stroke, brain malformations, maternal infection

Perinatal 10-15%e.g. neonatal encephalopathy

Postneonatal events ~15%e.g. trauma, meningoencephalitis, stroke

Cerebral Palsy: InterventionsAimsMaximise potentialPrevention of secondary

dysfunctionPromotion of improved function

and participation in society

Examples of tone managementOrthoticsBotulinum toxinOral medications e.g. Baclofen Intrathecal baclofenOrthopaedic surgery

Duchenne Muscular DystrophyX-linked disorderHigh rate of new mutationsIncidence 1 in 3500 male live birthsMutation of dystrophin gene Xp218-10% of female carriers have some

manifestations of diseaseLoss of ambulation at mean age of 9yrsAverage life expectancy now mid-20s

Duchenne muscular dystrophy: Diagnosis

Check CK in boys:not walking by 18 months4-6 months behind in general

development at 2 yearsawkward or clumsy gait under 4 yearsunable to run or jump by 4 yearspainful hips or legs under 4 years

Ref. Mohamed K et al. Delayed diagnosis of Duchenne muscular dystrophy.

Eur J Pediatr Neurol 2000

Duchenne muscular dystrophy: ManagementMultidisciplinary team approachUse of steroids

Prolongation of ambulationReduction in complications e.g. scoliosisImprovement in respiratory function

Increased use of non-invasive ventilationCardiac surveillance every 2yrsSpinal surgery

Developmental Coordination DisorderMale : Female 3 : 1

Impaired motor control & planningdifficulties with dressing and toiletingmessy feedingpoor handwriting and drawing skillspoor ball skills

Can become socially isolated

Poor self esteem and schooling difficulties

Developmental Coordination Disorder:DSM-IV diagnostic criteriaMarked impairment of the development of motor

co-ordination

Impairment significantly interferes with academic achievement and activities of daily living

Problem not due to a recognised medical condition

Not a pervasive developmental delay

NHS QIS publication: ‘I still can’t tie my shoelaces...’Quick Reference Guide to Identification and Diagnosis of DCD

Developmental Coordination Disorder: Management

Reassure the child that there is no medical disease process or refer to Paediatrician for assessment

Referral to Occupational Therapist

Classroom support

Group interventions to promote motor skills and self-esteem e.g. Rainbow Gym

Summary‘Limit ages’ can guide need for referral

Neurological examination should identify worrying signs

Be alert to motor disorders that might present later in childhood

Listen and respond to parents concerns!

Useful sources of information

From Birth to Five Years. Mary Sheridan.Health for All Children 4th Edition. Hall D. Developmental delay: Identification and

management. Aust Fam Phys 2005, Vol 34; 9:739-742

Voluntary organisations e.g. Hemihelp, SCOPE, Contact a Family

Developmental Coordination Disorder: useful references

‘I still can’t tie my shoelaces...’Quick Reference Guide to Identification and Diagnosis of DCDwww.healthcareimprovementscotland.org/our_work/reproductive,_maternal__child/programme_resources/dcd_review_response.aspx

Why every office needs a tennis ball: a new approach to assessing the clumsy child Cheryl Missiuna et al. CMAJ August 29, 2006; 175 (5)

www.cmaj.ca/content/175/5/471.full