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 4 th 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 control4 months Sits unsupported 9 months Stands independently12 months Walks independently18 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 VisionCognition HearingFeeding Manual dexteritySeizures Speech & languageBehaviour 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 Xp % 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: 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 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)