Development and developmental problems in children
PAEDIATRICS
Developmental milestones
Chromosal abnormalities
NORMAL CHILD DEVELOPMENTAL MILESTONES
DEVELOPMENTAL PROBLEMS IN CHILDREN
ABNORMAL MOTOR DEVELOPMENT IN CHILDERN
LEARNING HEARING & VISUAL IMPAIRMENT
BEHAVIOURAL DISORDERS
2. CONTENTS
NORMAL CHILD DEVELOPMENTAL MILESTONES
DEVELOPMENTAL PROBLEMS IN CHILDREN
ABNORMAL MOTOR DEVELOPMENT IN CHILDERN
LEARNING HEARING & VISUAL IMPAIRMENT
BEHAVIOURAL DISORDERS
4. Contents
• 1. Introduction
2. Rules of development
3. Developmental assessment of a preterm baby
4. Factors affecting development
5. Domains of development -
(a) Gross motor development
(b) Fine motor development
(c) Social milestone
(d) Language milestone
(e) vision
(f) Hearing
Presentation title 4
5. Introduction
• Development means attainment of maturity of functions.
• The term child development is used to describe the skills
acquired by children between birth and about 5 years of age,
during which there are rapid gains in mobility, speech and
language, communication and independence.
• The maturation and myelination of the nervous system is
reflected in the sequential attainment of developmental
milestones.
6. Rules of development
• Development is a continuous process, starting in utero and progressing in
an orderly manner until maturity.
• Development depends on the functional maturation of the nervous system.
• The sequence of attainment of milestone is same in all children.
• The process of development progresses in a cephalo-caudal direction.
Head control precedes trunk control which precedes ability to use lower
limbs.
• Certain primitive reflexes have to be lost before relevant milestones are
attained. Palmer grasp is lost before voluntary grasp is attained.
7. Developmental assessment of a
preterm baby
Developmental assessment of a preterm baby is done using ‘corrected’
or ‘adjusted’ age till 2 year age
Corrected age= (Gestational age + Chronological age) - 40 weeks
For example- if gestational age of a baby is 30 weeks and chronological
age is 12 weeks
Then the corrected age= (30+12)-40 =2 weeks
Therefore, the developmental milestone of 12 week old baby is considered
as 2 weeks old
8. Factors affecting development
Development depends on a variety of mutually interactive factors such as hereditary potential,
biological integrity physical and psychological environment and emotional stimulation.
The factors that influence child development are-
• Prenatal factors (genetic factors and maternal factors)
• Neonatal risk factors ( Intrauterine growth restriction prematurity, perinatal asphyxia)
• Postneonatal factors ( infant and child nutrition, iron deficiency, iodine deficiency, infectious
disease, environmental toxins, acquired insults to the brain)
• Psychosocial factors ( parenting, poverty,lack of stimulation, violence and abuse, maternal
depression)
• Protective factors ( breast feeding, maternal education)
9. Domains of development
• Gross motor development
• Fine motor skill development
• Personal and social development and general understanding
• Language
• Vision and hearing
10. Gross Motor devlopment
Major motor activities
Rule: development in a child always proceeds in
cephalocaudal direction i.e. from head to foot.
Age Gross motor milestone
Newbron Limb flexed, Symmetrical posture,
head lag
In ventral suspension-
1 month Head below the plane of the rest of
the body i.e. no neck control
11. Age Gross motor
milestone
• 2 months - Head in the plane of rest of the body, neck control begins to develope
• 3 months - Head above the plane of rest of the body, neck control developes
In prone position
• 2 weeks - Baby lies on bed with high pelvis and knees drawn under the abdomen
• 4 weeks - lifts the chin up momentarily
• 6 weeks - lies on bed with flat pelvis and extended hips
• 8 weeks - lifts face up at 45 degrees
• 12 weeks - can bear weight on forearms with chin and shoulder lifted off the
couch
• 6 months - can support his weight on hands on extended arm
12. Key gross motor milestones:
• 3 months - neck holding
• 5 months - rolls over
• 6 months - sits in tripod fashion ( sitting with support )
• 8 months - sitting without support and crawling
• 9 months - stands holding on ( with support)
• 10 months - creeping, pivoting, walk around the furniture slowly
holding on it
• 12 months - stand without support, walks with support
• 13 months - walks without support
• 15 months - creeps upstairs
• 18 months - goes upstairs and downstairs holding the side railing,
runs, explores drawers
13. • 2 years - child goes upstairs and downstairs ( 2 feet / step), jumps
• 3 years - Rides tricycle, child goes upstairs with alternating feet but
downstairs with 2 feet per step
• 4 years - hops on one foot, alternate feet going downstairs
• 5 years - skipping, can stand on one leg > 10 seconds
15. Fine motor development :
The development of fine manipulation skills and coordination with age
Age. Fine motor milestone
1 month - Hands kept closed
2 months - Hands open intermittently
3 months - Hands kept open, holds an object when placed in hand, hand
regard appears
4 months - bidextrous reach (reaching out for objects with both the hands)
5months - bidextrous grasp
6 months - unidextrous or palmer grasp, tried to feed, can take a biscuit to his
mouth
16. 7 months - Transfers objecrs from one hand to another
9 months - immature pincer grasp
12 months - piner grasp mature, pulls off caps or socks
15 months- imitates scribbling, tower of 2 blocks
18 months - scribbles, tower of 3 blocks
2 years - tower of 6 blocks, vertical and circular stroke
3 years - tower of 9 blocks, copies a circle
4 years - copies cross, bridge with blocks
5 years - copies triangle, gate with blocks
18. Social milestone:
• 1 month - looks at mother intently when talked to
• 2 months - social smile
• 3 months - recognizes mother, anticipates feeds
• 6 months - recognizes strangers, stranger anxiety
• 9 months - waves bye bye
• 10 months - plays peek a boo
• 12 months - comes when called, plays simple ball game, kisses on request
• 15 months - points to objects, indicates wet pants
• 18 months - Domestic mimicry (copies parents in task)
19. • 2 years - Asks for food, drink, toilet, pulls people to show toys
• 3 years - shares toys, knows full name and gender
• 4 years - plays cooperatively in a group, goes to toilet alone
• 5 years - helps in household task, dresses and undresses
21. Language milestones
• 1 month - Quietens when a bell is rung
• 2 months - vocalizes
• 3 months - cooing (musical sounds)
• 4 months - laughs aloud
• 6 months - monosyllables ( ma, ba, da)
• 9 months - bisyllables ( mama, baba, dada)
• 12months - one or two words with meaning
• 18 months - vocabulary of 8-10 words
• 2 years - speaks 2 word sentences, uses pronouns “l”, “me”, “you”
• 3 years - asks questions, knows full name and gender
• 4 years - sings song or poem, tells a story
• 5 years - Asks meaning of words, can name four colours
22. Vision
• Newborn - can fixate on a red dangling ring and follow it to 45 degrees
• 4 weeks - follow ring or object to 90 degree
• 12 weeks - can follow upto 180 degree
• 3 months - fixates instantaneously on an object shown to him
• 4 months - binocular vision begins to develope
• 1 year - follows rapidly moving objects
24. Hearing
• Newborn - respond to sound by blinking, startled or crying
• 3-4 months - turns head towards source of sound
• 5-6 months - turns head towards source and then downwards
• 7-8 months - localizes sound produced above the level of ears
• 10 months - child looks directly towards the source of sound
diagonally.
Presentation title 24
28. Developmental Delay
Global developmental delay usually presents in the first 2 years of life.
Developmental Delay is when a child does not reach their
developmental milestone at the expected times.
Global developmental delay (also called early developmental
impairment) implies delay in acquisition of all skill fields (gross motor,
vision and fine motor, hearing and speech, language and cognition,
social/emotional and behaviour).
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29. Abnormal development
key terms & definations
Delay – implies slow acquisition of all skills or of one particular field or area of skill
(specific delay), particularly in relation to developmental problems in the 0–5-year
age group.
Learning difficulty – used in relation to children of school age and may be
cognitive, physical, both, or relate to specific functional skills.
Disorder – maldevelopment of a skill.
Impairment – loss or abnormality of physiological function or anatomical structure.
Disability – any restriction or lack of ability due to the impairment.
Disadvantage – this results from the disability, and limits or prevents fulfilment of a
normal role.
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30. Fig1.Patterns of abnormal development. These may be slow but steady, plateau, regression. They may
follow an acute injury.
Fig2.For children with abnormal development, the gap between their abilities and what is
normal widens with age.
Presentation title 30
31. Causes of Abnormal Development
Prenatal:
• 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 syndromes- Tuberous sclerosis, neurofibromatosis, Sturge–Weber,
Ito syndrome
Presentation title 31
32. Perinatal:
• Extreme prematurity- Intraventricular haemorrhage/periventricular
leucomalacia
• Birth asphyxia- Hypoxic-ischaemic encephalopathy HIE
• Metabolic- Symptomatic hypoglycaemia, hyperbilirubinemia
Postnatal:
• Infection- Meningitis, encephalitis
• Anoxia- Suffocation, near drowning, seizures
• Trauma Head injury – accidental or non-accidental
• Metabolic- Hypoglycaemia, inborn errors of metabolism.
• Cerebrovascular- Stroke
• Nutritional deficiency-Maternal deficiency (breast fed), food intolerances,
restrictions
Presentation title 32
34. Investigations or assessment to consider for
developmental delay
Cytogenetic:
• Chromosome karyotype Fragile X analysis DNA FISH analysis, e.g. for chromosome
7, 15, 22 deletions, CGH microarray (comparative genomic hybridisation),
telomere screen.
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, lead levels, urate, ferritin, biotinidase
Maternal amino acids for raised phenylalanine.
Infection : Congenital infection screen.
Presentation title 34
35. Imaging:
• Cranial ultrasound in newborn
• CT and MRI brain scans
• Skeletal survey, bone age
Neurophysiology:
• EEG (for seizures and can be specific for some progressive neurological disorders and
syndromes) Nerve conduction studies, EMG, VEP (visual evoked potentials), ERG
(electroretinogram)
Histopathology/ histochemistry: Nerve and muscle biopsy
Other
• Hearing Vision Clinical genetics Cognitive assessment
• Therapy assessment – physiotherapy, occupational therapy and speech and language therapy
• Child psychiatry
• Dietician
• Nursery/school reports
Presentation title 35
36. The Approach of children with developmental
problems.
Presentation title 36
37. Important genetical causes of Developmental
Delay
1.Disorder of Chromosome Number:
Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13), Turner syndrome (45, X), Klinefelter syndrome (47,
XXY)
2. Developmental brain abnormalities ( Lissencephaly )
3. Genetic syndrome ( Fragile X syndrome )
4.Perinatal Factor( Asphyxia , HIE – Hypoxic Ischemic Encephalopathy)
5. Post natal factors & Acquired (CNS Trauma, Infections, hypothyroidism & Malnutrition).
6. Inborn error of metabolism ( Syrup Urine Disease, GM Gangliosidosis , Organic Acidemia.
7.Congenital Infections (TORCH – Toxoplasmosis , group Other agents , Rubella, CMV, Herps )
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38. Chromosomal disorders in children
Down syndrome (trisomy 21):
• This is the most common autosomal trisomy and the most
common genetic cause of severe learning difficulties. The
incidence in live-born infants is about 1 in 650, and increases
with maternal age.
1.Characteristic facies seen in Down syndrome
2. Single palmar crease.
3. Pronounced ‘sandal’ gap with wide space and often a deep fissure between the big toe and second toe.
Presentation title 38
39. Later medical problems:
• delayed motor milestones
• learning difficulties – severity is variable, usually
mild to moderate but may be severe
• short stature
• increased susceptibility to infections
• hearing impairment from secretory otitis media
(75%)
• visual impairment from cataracts (15%), squints,
myopia (50%)
• increased risk of leukaemia and solid tumours.
Cytogenetics:
• Meiotic non-disjunction (94%)
• Translocation (5%)
• Mosaicism (1%)
Presentation title 39
40. Fragile X Syndrome :
Fragile X syndrome is the commonest familial form of learning difficulties
and the second most common genetic cause of severe learning difficulties
after Down syndrome.
Clinical findings in males in fragile X syndrome:
• Moderate–severe learning difficulty (IQ 20–80, mean 50)
• Macrocephaly
• Macro- orchidism – post pubertal
• Characteristic facies – long face, large everted ears, prominent mandible
and broad forehead, most evident in affected adults
Other features – mitral valve prolapse, joint laxity, scoliosis, autism,
hyperactivity.
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41. Edward Syndrome
Clinical features of Edwards syndrome (trisomy 18):
• Low birthweight
• Prominent occiput
• Small mouth and chin
• Short sternum
• Flexed, overlapping fingers
• ‘Rocker-bottom’ feet
• Cardiac and renal malformations
Presentation title 41
42. Patau Syndrome
Clinical features of Patau syndrome (trisomy 13):
• Structural defect of brain
• Scalp defects
• Small eyes (microphthalmia) and other eye defects
• Cleft lip and palate
• Polydactyly
• Cardiac and renal malformations.
Presentation title 42
43. Turner syndrome (45, X)
Clinical featuresof Turner syndrome:
• Lymphoedema of hands and feet in neonate, which may persist
• Spoon-shaped nails
• Short stature – a cardinal feature
• Neck webbing or thick neck
• Wide carrying angle (cubitus valgus)
• Widely spaced nipples
• Congenital heart defects (particularly coarctation of the aorta)
• Delayed puberty
• Ovarian dysgenesis resulting in infertility, although pregnancy may be possible with in vitro fertilization using donated ova
• Hypothyroidism
• Renal anomalies
• Pigmented moles
• Recurrent otitis media
• Normal intellectual function in most cases
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44. Noonan syndrome
Clinical features:
• Characteristic facies
• Occasional mild learning difficulties
• Short webbed neck with trident hair line
• Pectus excavatum
• Short stature
• Congenital heart disease (especially pulmonary stenosis, atrial septal
defect)
Presentation title 44
45. Williams syndrome
Clinical features of Williams syndrome:
• Short stature
• Characteristic facies
• Transient neonatal hypercalcaemia (occasionally)
• Congenital heart disease (supravalvular aortic
stenosis)
• Mild-to-moderate learning difficulties
Presentation title 45
46. Prader–Willi syndrome
Clinical features of Prader–Willi syndrome:
• Characteristic facies
• Hypotonia
• Neonatal feeding difficulties
• Faltering growth in infancy
• Obesity in later childhood
• Hypogonadism
• Developmental delay
• Learning difficulties
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49. Introduction
• Abnormal motor developmental is a delay in acquisition of motor skills,
e.g. head control, rolling, sitting, standing, walking or as problems with
balance, an abnormal gait, asymmetry of hand use, involuntary
movements or rarely loss of motor skills.
• Neurodevelopmental delay present at all ages in childhood. Many are
motor problem identified in the neonatal period because of abnormal
neurology or dysmorphic features.
• First 18th month –prone to motor problem.
• Between 18th months to 3 years- speech & language problem.
• 2 to 4 yrs- social & communication disorders
Presentation title 49
52. TYPES OF NEUROLOGICAL
DEVELOPMENTAL DISORDER
1.Motor movement disorder-
fine and gross
2.Developmental coordination
disorder- speech & language
disorder, learning disorder ,
hearing & vision.
3. Stereo typic movement
disorder repetative apparently
purposeless motor behaviour
Presentation title 52
53. CEREBRAL PALSY
• DEFINATION: Cerebral palsy defined as an abnormalities of movement
and posture
• The motor disorders of CP are often accompanied by disturbances of
cognition, communication, vision, perception, sensation, behaviour,
seizure disorder and secondary musculoskeletal problems.
• CAUSES:
Presentation title 53
Cerebral
palsy
Antenatal
(80%)
Postnatal
(10%)
Intranatal
(10%)
54. CAUSES
• Antenatal cause - Antenatal in origin due to-
1. vascular occlusion
2. Cortical migration disorder on structural maldevelopment of the brain during gestation.
3. Genatic syndrome and congenital infection.
• Intranatal cause –
1. Hypoxic ischemic injury during delivery
2. Preterm infants are specially vulnerable to brain damage from periventricular
leukomalacia.(PVL)
3. secondary, to ischemia and severe haemorrhage
• Post natal cause-
1. Meningitis / encephalitis/ encephalopathy
2. Head trauma from accidental or non accidental injury.
3. Symptomatic Hypoglycemia , Hydrocephalus and hyper bilirubinemia
Presentation title 54
55. Clinical presentation of cerebral palsy:-
• Parsistance of primitive reflex beyond six months of age .ex - palmar
grasp reflex , moro reflex , and asymmetric tonic neck reflex.
• Abnormal limb or trunk postures and tone in infancy with delayed
milestone.
• Feeding difficulties with oromotor in coordination, gagging and vomiting.
• Abnormal gait , Asymmetric Head function (before 12 months).
Gross motor function classification system (GMFCS) :
• Level I- Walks without limitations
• Level II- Walks with limitations
• Level III- Walks using a handheld mobility device
• Level IV- Self-mobility with limitations; may use powered mobility
• Level V- Transported in a manual wheelchair
Presentation title 55
56. TYPES OF CEREBRAL PALSY:-
• Spastic (90%)- it’s mainly affect MOTOR CORTX of
brain.
• Dyskinetic (6%)- it’s mainly affect BASAL GANGLIA of
brain
• Ataxic – It’s mainly affect CEREBELLUM
• Some time mixed pattern.
Presentation title 56
57. SPASTIC CEREBRAL PALSY :-
• This is mainly upper motor neurone type of lession(pyramidal or
cortico spinal track)
• Limb tone persistantly increased (spasticity), planter reflex
extention, associated brisk tendon reflex (clasp like rigidity).
• ACCORDING TO INVOLVEMENT OF EXTREMITIES, SPASTIC PALSY
MAY BE CLASSIFIED.....
HEMIPLEGIA: Unilateral involvement of the arm & leg (spastic &
dystonic)
Aetiology- Often due to perinatal middle cerebral artery infarct.
Clinical features- Spastic or dystonic tone, one side of body affected
(opposite to the side of the brain lesion)
• Arm often more affected than leg May have visual field defect on side
of hemiplegia
• Risk of learning difficulties and seizures Often GMFCS level 1 and 2
Presentation title 57
58. Presentation title 58
DIPLEGIA: two lower limb are more affected than upper
limb
Aetiology-
• Damage to the periventricular areas of developing brain
often associated with prematurity.
• Leg motor fibres from the homunculus are closest to the
ventricles, so legs more affected than arms.
Clinical features-
• Young child – pattern with walking on their toes with
scissoring of the legs.
• Older child – crouch gait pattern is typical when the child
gets heavier and can’t remain on their toes.
• Often associated with squints. Frequently GMFCS level 1–
3
59. Presentation title 59
QUADRIPLEGIA : All 4 limb limbs are affected
Aetiology-
• Extensive damage to the periventricular areas of the
developing brain, including cortex.
Clinical features-
• This is severe cerebral palsy associated seizures,
microcephaly,and moderate or severe intellectual
impairment may history of hypoxic ischemic
encephalopathy.
• Often GMFCS levels 4 and 5
60. DYSKINETIC : Its refer to movement which are involuntary
uncontrolled may be stereo type.
Aetiology-
• Perinatal asphyxia – particularly affecting the basal ganglia.
Also kernicterus, but this is now rare.
Clinical features-
• Chorea – irregular, sudden and brief non-repetitive
movements
• Athetosis – slow writhing movements occurring more distally
such as fanning of the fingers
• Dystonia – simultaneous contraction of agonist and antagonist
muscles of the trunk and proximal muscles often giving a
twisting appearance.
• Usually GMFCS level 4–5
Presentation title 60
61. ATAXIC(hypotonic):
• due to acquired brain injury (cerebellum or its connections)
• There is early trunk and limb hypotonia, poor balance and delayed motor
development. Incoordinate movements, intention tremor and an ataxic
gait may be evident later.
• MANAGEMENT:
• There is no cureative treatment
• Physical therapy:- Can help increased the muscle strength, flexibility &
balance.
• Speech & language therapy.
• If, seizure present treated by anticonvulsant drug.
Presentation title 61
62. Abnormal development of
social/communication skills
(autistic spectrum disorders)
• Presents at 2–4 years with impaired social interaction,
speech and language disorder and imposition of
routines with ritualistic and repetitive behaviour
• Usually managed by behaviour modification such as
applied behavioural analysis (ABA).
• The prevalence is 3–6/1000 live births.
• It is more common in boys.
Presentation title 62
63. Features of autistic spectrum disorders
• Impaired social interaction:-
• does not seek comfort, share pleasure, form close friendships
• prefers own company, no interest or ability in interacting with peers (play
or emotions)
• gaze avoidance
• lack of joint attention
• socially and emotionally inappropriate behaviour
• does not appreciate that others have thoughts and feelings
• lack of appreciation of social cues
Presentation title 63
64. • Speech and language disorder:-
• delayed development, may be severe.
• limited use of gestures and facial expression.
• formal pedantic language, monotonous voice.
• impaired comprehension with over-literal interpretation of speech.
• Imposition of routines with ritualistic and repetitive behaviour:-
• on self and others, with violent temper tantrums if disrupted.
• unusual stereotypical movements such as hand flapping and tiptoe gait
• concrete play.
• poverty of imagination in play and general activities.
• peculiar interests and repetitive adherence.
• restriction in behaviour repertoire.
• Co-morbidities:
• general learning and attention difficulties (about two-thirds)
• seizures
Presentation title 64
65. TREATMENT
Presentation title 65
1.Behavioral training and management:
• Sensory Integration
• Applied Behavior analysis (ABA)
• Education of Autis and Related Communication Handicapped Children (TEACCH)
2. Specialized therapies:
• Speech therapy,
• Occupational therapy
• Physical therapy
3. Community support and parent training:
4. Medicines:
anxiety, hyperactive, depression and obssesive
• compulsive behavior
73. Intelligence Quotient (IQ)
William Stern, a German psychologist, devised the
concept of Intelligence Quotient (IQ). IQ refers to mental
age divided by chronological age and multiplied by 100.