Dr Valerie Orr

Consultant 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 diagnosis
 Improved outcome
 Improved quality of life for child and family
 Access 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
 Screening
 Listening to parents
 Opportunistic
recognition

Ref. Hall 4
Gross motor milestones – when to refer

 Head control 4 months

 Sits unsupported 9 months
 Stands independently 12 months
 Walks independently 18 months

*Remember to adjust for prematurity until 2yrs

Features that may suggest underlying motor
disorder
 Delayed motor milestones
 Asymmetrical movement patterns
 Abnormalities of muscle tone
 Persisting primitive reflexes
 Other difficulties
e.g. feeding difficulties
unexplained irritability
respiratory 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
 Hypotonia
 Loss of previously acquired motor skills at any age
Floppy infant – assessment

History
 Pregnancy and birth
 Feeding
 Development

Examination
 Weight & OFC ?thriving
 Facial features ?dysmorphism
 Movement ?antigravity mvts
 Floppy infant - causes

 Prematurity, illness & drugs - transient hypotonia

 ‘Benign congenital hypotonia’
 Global developmental delay
 Evolving cerebral palsy
 Genetic 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 the

surgery with a minor illness. She mentions that
she 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 variants
 Associated with bottom shuffling
 Cerebral palsy or minor neurological problems <10%
 Consider CK in boys
Toe walking
Causes
 Idiopathic toe walking
 Muscle spasticity
e.g. cerebral palsy, spinal cord lesion
 Muscle disease
e.g. Duchenne muscular dystrophy, Charcot Marie Tooth

Treatments depend on cause

e.g. physiotherapy, casting, orthotics, surgery
Cerebral Palsy: a multi-system disorder
 Description not diagnosis!

 Primarily a motor disorder

 Other impairments often associated

Vision Cognition
Hearing Feeding
Manual dexterity Seizures
Speech & language Behaviour problems
Aetiology of cerebral palsy
Incidence ~2 per 1000 live births
 Antenatal ~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: Interventions
Aims
 Maximise potential
 Prevention of secondary
dysfunction
 Promotion of improved function
and participation in society

Examples of tone management

 Orthotics
 Botulinum toxin
 Oral medications e.g. Baclofen
 Intrathecal baclofen
 Orthopaedic surgery
Duchenne Muscular Dystrophy
 X-linked disorder
 High rate of new mutations
 Incidence 1 in 3500 male live births
 Mutation of dystrophin gene Xp21
 8-10% of female carriers have some manifestations of
disease
 Loss of ambulation at mean age of 9yrs
 Average life expectancy now mid-20s
Duchenne muscular dystrophy: Diagnosis
Check CK in boys:
 not walking by 18 months
 4-6 months behind in general development at 2
years
 awkward or clumsy gait under 4 years
 unable to run or jump by 4 years
 painful 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: Management
 Multidisciplinary team approach
 Use of steroids
 Prolongation of ambulation
 Reduction in complications e.g. scoliosis
 Improvement in respiratory function

 Increased use of non-invasive ventilation

 Cardiac surveillance every 2yrs
 Spinal surgery
Developmental Coordination Disorder
 Male : Female 3:1
 Impaired motor control & planning
 difficulties with dressing and toileting
 messy feeding
 poor handwriting and drawing skills
 poor ball skills

 Can become socially isolated

 Poor self esteem and schooling difficulties
Developmental Coordination Disorder:
DSM-IV diagnostic criteria
 Marked 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 DCD
www.healthcareimprovementscotland.org/our_work/reproductive,_maternal__child/pro
gramme_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