1. A Child with Delayed Walking
Dr. Khalid Ibrahim
Senior Consultant and Chief of Pediatric Neurology Division

2. Objectives Introduction and Definitions.
Approach to a child with delayed walking.
Review of common causes.
Special groups.

3. Introduction and Definitions
Developmental milestones: “Set of skills/age specific tasks” that the child will/can achieve at certain times through his/her development.

4. Introduction and Definitions
Milestones concerned include:
Gross Motor Skills.
Fine Motor and visual Skills.
Speech and language Skills.
Social Skills.

5. Introduction and Definitions
Delayed Milestone: Outside the range acceptable. Two standard deviations below the mean for chronological age.
Global Developmental Delay: Two or more skills are involved.
Isolated Developmental Skill Delay: One skill is affected

6. Introduction and Definitions
Delayed Walking: A child not achieving independent walking by 18 months.

7. Delayed Walking
A delay in one area of development can affect other area(s) as well.
A child who is delayed but making progress.
A child who is delayed and is making little or no progress.
A child who is losing skill(s), regressing.

8. Approach to a child with Delayed Walking 1
Correct calculation of post gestational age (Allow for prematurity).
Recognize major gross motor developmental stops:
Head control: 3-4 months.
Sitting unsupported: 5-8 months.
Crawling: 8-10 months.
Cruising: months.
Pulls to standing: months.
Walking alone: 15 months.
Runs: 18 months.

9. Approach to a child with Delayed Walking 2
Look at the pace of development (Trajectory)
Prognosis for Gross Motor Function in Cerebral Palsy: Creation of Motor Development Curves
Peter L. Rosenbaum; Stephen D. Walter; Steven E. Hanna; et al. JAMA. 2002;288(11):

10. Approach to a child with Delayed Walking 3
History:
Pregnancy and perinatal.
Screen all the milestones.
Spot other difficulties: Seizure; other system(s) involvement.
Family history: Delayed walkers; muscle diseases …
Social history: House structure, space …

11. Approach to a child with Delayed Walking 4
Examination:
Growth parameters.
Dysmorphic features.
Myopathic facies.
Eye: Ptosis; Strabismus; EOM…
Tongue: Size; Video
Bulbar function.
Head lag.

12. Approach to a child with Delayed Walking 5
Examination Cont. :
Trunk: Tone; Skeletal deformities..
Limbs: Length; Tone; Power; Reflexes, extrapyramidal.
Posture and Gait.
Other systems ….
Video 1
Video 2

13. Etiologies Cerebral Palsy.
Neuromuscular Disorders: Central; Anterior Horn Cells; Neuropathies; NMJ; Myopathies; Dystrophies.
Chromosomal/syndromic: Prader Willi; Down’s …
Nutritional.
Familial Delayed Walking??
Others….

14. Workup Blood: CK. DNA: SMN gene; others… TFT; LFT; RFT; Lactate.
Chromosome Karyotyping and Microarray.

15. Workup Imaging; Ultrasound. MR: MRI/MRS Brain; Muscles; Spine. Others:
Nerve Conduction and EMG.
Biopsies…

16. Clinical Hints Lack of prompting may delay walking.
Visual impairment/blindness may delay walking.
Children with Duchenne MD walks after 18 months.
Proximal muscle weakness occurs in myopathies and distal muscles weakness in the neuropathies.

17. Clinical Hints
Normal examination and lack of involvement of other developmental domains, possibly exclude underlying disorder (Developmental lag).
Reflexes: Absent or depressed in myopathies; neuropathies; dystrophies and preserved or even increased in NMJ related disorders.
Chaplais JD, Macfarlane JA. A review of 404 “late walkers.” Arch Dis Child. 1984;59:512–516.

18. Clinical Hints Screen boys who are not walking by 18 months using CK.
Children with learning difficulties and no motor deficits (Spasticity), will ultimately manage to walk.
Gardner-Medwin D, Bundey S, Green S. Early diagnosis of Duchenne muscular dystrophy. Lancet. 1978;ii:1102.

19. Be Wary Of..
A child with spasticity and tonic posturing may appear to attempt rolling over at early age (around 3 months).
Scissoring at or before 4 months.
Persistence of primitive reflexes beyond 6 months.

20. Be Wary Of..
W Sitting: In children with joints hypermobility. May stretch joints and weaken muscles.

21. Be Wary Of..
Bottom Shuffling.
Video

22. Multidisciplinary General Pediatrician. Developmental Pediatrician.
Child Neurologist.
Orthopedic Surgeon.
Geneticist.
Therapists.
Social worker.

23. Updates and Progress 1
Multicenters/Multinationals Open-Label Study to Assess the Efficacy, Safety, Tolerability and Pharmacokinetics of Multiple Doses of ISIS Delivered Intrathecally to Subjects With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy.

24. Updates and Progress 2
In December 2016, the FDA approved nusinersen (Spinraza), the first drug approved to treat children (including newborns) and adults with SMA. Nusinersen is an antisense oligonucleotide (ASO) designed to treat SMA caused by mutations in chromosome 5q that lead to SMN protein deficiency.
(ENDEAR Trial)

25. Updates and Progress 3
Food and Drug Administration's decision to grant accelerated approval for eteplirsen, the first disease-modifying drug to treat the most common childhood form of muscular dystrophy. (2016)

26. Gene skipping approach: Skipping exon 51 of the DMD gene using Eteplersin, a morpholino-based oligonucleotide. Increase ambulation and reduce decline.
Upregulation of utrophin, using (SMT C1100), in pre-clinical trial, has shown promising results and good tolerance of the medication.
Gene replacement has its limitation as the DMD gene is a large gene.
Genome editing. CRISPR/Cas9 targeting mutation in exon 23. Promising results from animal studies.

27. Take Home Advice
Consider referring a child with “an isolated delay in walking to” Developmental Pediatric/Neurology.
Refer a child with delay in more than one area to Neurology/Developmental Pediatrics.
Urgent referral of a child who is “regressing”.
If in doubt, bring the child for another assessment in a month.

28. Take Home Advice
Advice parents not ot compare their child to other children.

29. Injuries Associated With Infant Walkers Committee on Injury and Poison Prevention Pediatrics 2001;108;790 DOI: /peds

30. THANK YOU