developmental milestones and approach to developmental delay

1. Development
in children
Presented by:
Dr. Monther Alshahrani
Saudi Board in Pediatric Medicine

2. Objectives
 Definition
 Fields of development
 Pattern for acquisition of skills
 Developmental milestone per age
 Assessment of development:
 Monitoring normal development
 Why to assess the child development
 Things to consider while assessing development
 Developmental delay
 Causes
 Evaluation (Hx and Px)
 Workup

3. Definition

4. Definition
 It is the capacity and skill of a person to adapt
to the environment.
 Functional and physiological maturation.
 Maturation of nervous system (brain cortex,
myelination) and musculoskeletal system.

5. Fields of
development

6. Fields of development

7. Pattern for
acquisition of
skills

8. Pattern for acquisition of skills
 Sequentially constant.
 Varies in rate between children.
 Deficiency in any one skill area can have an
impact on other areas.

9. Patterns
 Motor development generally follows a
cephalocaudal pattern (head to toe) in relation
to maturation of the central nervous system
and myelination.
 Cephalocaudal direction
 Proximodistal direction
 General to specific

11. Developmental
milestone per
age

12. When considering developmental
milestones:
 Median age
 Limit age
 Adjusting for prematurity

13. Median age
 Median age is the age when half of a
standard population of children achieve that
level
 It serves as a guide to when stages of
development are likely to be reached but does
not tell us if the child's skills are outside the
normal range

14. Limit age
 Limit ages are the age by which the developmental
milestones should have been achieved.
 Limit ages are usually two standard deviations (SDs)
from the mean.
 They are more useful as a guide to whether a child's
development is normal than the median ages.
 Failure to meet limit ages gives guidance for action
regarding more detailed assessment, investigation or
intervention.

15. Example
 The percentage of children who take their first steps
unsupported is:
• 25% by 11 months
• 50% by 12 months Median age
• 75% by 13 months
• 90% by 15 months
• 97.5% by 18 months. Limit ages
 Child who is not walking by 18 months of age should
be assessed and examined

16. NORMAL VARIATION

17. Adjusting for prematurity
 The anticipated developmental skills of a 9-month-
old baby (chronological age) born 3 months early
at 28 weeks' gestation are more like those of a 6-
month-old baby (corrected age).
 Correction is not required after about 2 years of
age when the number of weeks early the child
was born no longer represents a significant
proportion of the child's life.

26. Assessment of
development

27. Assessment of development
 Monitoring normal development
 Why to assess the child development
 Things to consider while assessing
development

28. Monitoring normal development
Normal development in the first few years of life
is monitored by:
 Parents
 Regular child health checks
 Healthcare professional.

29. During school age evidence of developmental
progression is predominantly through:
 Cognitive development.
 Abstract thinking.
 Further maturation of early developmental skills.

30. Why to assess the child
development
 Confirm normality of progress.
 Early detection of disordered development.
 Help children achieve their maximum potential.
 Provide treatment or therapy promptly (particularly
important for impairment of hearing and vision).
 Act as an entry point for the investigation, care and
management of the child with special needs.

31. Things to consider while
assessing development
 Concentrate on each field of development (gross motor; vision
and fine motor; hearing, speech and language; social, emotional
and behavioral) separately.
 Ask about the sequence of skills achieved as well as those skills
likely to develop in the near future.
 Determine the level the child has reached for each skill field.
 Relate the progress of each developmental field to the others.
 Relate the child's developmental achievements to age
(chronological or corrected).

33. Screening tests
 Denver developmental screening test For developmental delay
till preschool age.
 Bayley Infant Neurodevelopmental Screener (BINS) 3-24 months
 Checklist for Autism in Toddlers(CHAT) 18-36 months
 Baroda screening test mainly for psychological aspects 0-30
months
 Cognitive function (higher mental function) can be assessed
objectively with formal intelligence quotient (IQ) tests.

34. Developmental
delay

35. Developmental delay
 Developmental delay refers to a significant lag
in one or more areas of development.
 Global vs specific developmental delay.

36. Causes
Prenatal
CAUSES
Genetic Chromosome/DNA disorders, e.g. Down syndrome,
fragile X syndrome, chromosome microdeletions or
duplications
Cerebral dysgenesis, e.g. microcephaly, absent corpus
callosum, hydrocephalus, neuronal migration disorder
Cerebrovascular Stroke – haemorrhagic or ischaemic
Metabolic Hypothyroidism, phenylketonuria
Teratogenic Alcohol and drug abuse
Congenital
infection
Rubella, cytomegalovirus, toxoplasmosis, HIV
Neurocutaneous Tuberous sclerosis, neurofibromatosis, Sturge–Weber,

37. Perinatal CAUSES
Extreme prematurity Intraventricular
haemorrhage/periventricular
leucomalacia
Birth asphyxia Hypoxic-ischaemic encephalopathy
Metabolic Symptomatic hypoglycaemia,
hyperbilirubinemia

38. Postnatal CAUSES
Infection Meningitis, encephalitis
Anoxia Suffocation, near drowning, seizures
Trauma Head injury – accidental or non-
accidental
Metabolic Hypoglycaemia, inborn errors of
metabolism.
Cerebrovascular
Nutritional deficiency
Stroke
Maternal deficiency (breast fed), food
intolerances, restrictions
Other
Unknown (about 25%): chronic
illness, physical abuse, emotional
neglect

39. Evaluation
 Full history
 Proper physical examination
 Workup

40. Evaluation
 Ask the parent what the child's abilities are.
 Start at a level below what a child of that age is likely to
be able to do to retain confidence of the parent and
child.
 Observe the child from the first moment seen.
 Make it fun, The assessment should be perceived as a
game by the child.
 Toys to use are cubes, a ball, car, doll, pencil, paper,
pegboard, miniature toys, picture book.

42. History
Prenatal Positive family history, e.g. affected siblings or family members;
ethnicity
Antenatal screening tests, e.g. ultrasound including nuchal
thickness, triple blood test or non-invasive prenatal testing (NIPT,
cell-free DNA testing of fetal cells from maternal blood) for
conditions such as Down syndrome; neural tube defects, e.g.
spina bifida and hydrocephalus. Amniocentesis for suspected
genetic disorders
Perinatal Following birth asphyxia/neonatal encephalopathy
Preterm infants with intraventricular haemorrhage/periventricular
leucomalacia, post-haemorrhagic hydrocephalus
Dysmorphic and neurocutaneous features
Abnormal neurological behavior – tone, feeding, movement,
seizures, visual inattention

43. Infancy Global developmental delay
Delayed or asymmetric motor development
Neurocutaneous and dysmorphic features (cataracts)
Vision or hearing concerns by parents or after screening
Preschool Speech and language delay
Abnormal gait, clumsy motor skills
Poor social communication skills
Behaviour – stereotypical, overactivity, inattention
School age Problems with balance and coordination
Learning difficulties
Attention control
Hyperactivity
Specific learning difficulties, e.g. dyslexia, dyspraxia
Social communication difficulties
Any age Acquired brain injury, e.g. after meningitis, head injury
Loss of skills

44. Examination
 Growth parameters: height, weight, head
circumference with centile plotting.
 Dysmorphic features: face, limbs, body proportions,
cardiac, genitalia.
 Skin: neurocutaneous stigmata, injuries.
 Central nervous system examination: abnormal
posture/symmetry, wasting, tone and power, deep
tendon reflexes, clonus, plantar responses, cranial
nerves.

45.  Cardiovascular examination: abnormalities are
associated with many dysmorphic syndromes.
 Visual function and ocular abnormalities.
 Hearing: by questioning parents about hearing
and language development and checking if
neonatal hearing screening was done.

46. Workup
 Cytogenetic
 Chromosome karyotype, Fragile X analysis
 DNA FISH analysis, e.g. for chromosome 7, 15, 22 deletions
 Metabolic
 Thyroid function tests, liver function tests, bone chemistry, urea and
electrolytes, plasma amino acids
 Creatine kinase, blood lactate, VLCFA (very long chain fatty acids),
ammonia, blood gases, white cell (lysosomal) enzymes, urine amino
and organic acids, urine mucopolysaccharides (GAG) and
oligosaccharide screen, urine reducing substances
 Maternal amino acids for raised phenylalanine
 Infection
 Congenital infection screen

47.  Imaging
 Cranial ultrasound in newborn
 CT and MRI brain scans
 Skeletal survey
 Neurophysiology
 EEG (may be specific for seizures, some
progressive neurological disorders)
 Nerve conduction studies, EMG
 Histopathology/histochemistry
 Nerve and muscle biopsy

48.  Other assessments:
 Primitive reflexes
 IQ Test, Cognitive assessment
 Hearing
 Vision
 Child psychiatry
 Nursery/school reports

49. If persist? Brain injury

50. IQ Test: to assess mental retardation

51. Hearing
 Early detection and treatment of hearing
impairment improves the outcome of speech and
language and behavior.
 Newborn hearing screening is performed for the
early identification of hearing impairment.
 If there is parental concern about hearing, further
assessment is warranted.

52. Vision
 Visual acuity is low at birth but gradually
increases to normal adult levels by about 5
years of age.
 Vision screening is performed at school entry
or in preschool children.

53. Developmental
milestones

58. References
Nelson textbook
illustrated pediatric

59. Thank you