APPROACH TO
DEVELOPMENTAL DELAY
PROF RASHMI KUMAR
DEPARTMENT OF PEDIATRICS
KGMU
Normal Development
Developmental Testing
Screening
Formal Testing
Differential Diagnosis of delay
Mental Retardation
• Prevalence
• Classification
• Etiology
• Evaluation
-Confirm diagnosis
-Cause
-Associated problems
-Investigation
-Management
Special types
• What is development?
Maturation of function, acquisition of skills
– Cephalocaudal
– Mass responses  specific
– Predictable sequence, stepwise
• Achievement of different functions  Milestones
• Tested in 4 areas :
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Gross motor
Fine motor
Language
Social
DDX of Delay:
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Late starter (outlier)
MR - global delay
Deprivation - social/emotional
Motor defects - muscular / Cerebral palsy
Hearing & vision defects
Speech & language disorders
Autism
Specific learning disorders
Attention deficit hyperactivity disorder
Evaluation:
• Detailed history of events at birth, past
illnesses
• Pattern of delay
• H/o Onset/regression
• Examine for motor problems
• Screening
• Formal developmental
/ IQ assessment
3 step process
• Clinical evaluation
• Screening
• Formal assessment
Developmental Screening Tools
• Provider
– Denver
– CAT/CLAMS (Clinical Adaptive Test/ Clinical Linguistic and
Auditory Milestone Scale )
– Bayley Screener
– Brigance
– DIAL-R (Developmental Indicators for Assessment of Learning)
• Parent
– Ages and Stages Questionnaire (ASQ)
– Parent’s Evaluations of Developmental Status (PEDS)
Developmental Screening Tools:
India
• Baroda Development Screening Test
• Trivandrum Development Screening Test
• Lucknow Development Screen
• Indian norms used
Lucknow Development Screen
6months - 2years Developmental Screening Graph
Walks up & downstairs with help
Speaks sentences of 2 words
Gestures for wants
Walks alone
Stands up
Speaks 2 words with meaning
Stands alone
Walks with help
Inhibits on command
Stands by furniture
Fine prehension
Waving ta-ta
Says da-da ma-ma
Playful response to mirror
Raises self to sitting
Retains 2 things in 2 hands
Sits alone steadily
Turns supine to prone
Turns head to sound
Reaches for dangling ring
Laughs aloud
Recognizes mother
Holds head steady
Social smile
Follows moving person
Lateral head movement
Arms & legs thrust in play
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5
10
15
Right hand mark-97% screen
Left hand mark-50% screen
Midpoint-75% screen
20
25
30
Developmental Scales/IQ tests
• Bayley Scales of Infant Development (BSID):
Baroda norms (DASII): 0-42 m
• Stanford Binet (Binet Kamat) 3-15 y
• Weschler’s Preschool
• Weschler’s Intelligence scales (WISC) Malin’s
adaptation:
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Draw a man
Form Boards
Coloured progressive matrices
Raven’s Matrices
Non verbal
• VSMS/ VABS (Malin’s Adaptation) : Give Social
Quotient
MENTAL RETARDATION:
Since 2002, replaced by the term Intellectual Disability
Most common cause of delayed development
• Global impairment of milestones & cognitive function
• Symptom of many disorders
• Known & unknown etiology
• Poses mainly an educational, sometimes social and rarely a medical problem
• Diagnosis should be conveyed with caution (stigma, trauma)
Definition:
• Subaverage intellectual functioning (IQ <=70)
• Concurrent deficits in adaptive function
• Onset < 18 years
Classification:
• Borderline
• Mild
• Moderate
• Severe
• Profound
IQ 70-90
51-70
36-50
20-35
<20
Prevalence: 2-3% children have IQ <70
• Only 0.4% have profound MR
<5 yrs, IQ not possible
 90% Educable
Trainable
 5% Custodial
DQ used  GDD
MR – ETIOLOGY:
Subcultural MR
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Larger group
Borderline/ mild MR
Lower end of SE spectrum
No organic defect
? polygenic inheritance +/- adverse sociocultural
influences eg: maternal smoking, undernutrition,
prematurity/SFD, poor antenatal care
Organic MR - No social class preference
Organic MR: Etiology
• Prenatal:
– Inherited metabolic defects eg: Aminoacidurias, CHO
disorders, lipidoses, MPS, leukodystrophies, inherited
degenerative disorders, hormonal (cretinism,
hypoparathyroid)
– Nonbiochemical genetic defects eg. Hydrocephalus, Soto’s,
Lissencephaly, Pradervilli, Laurence Moon Beidl,
Cockayne’s etc.
– Neurodermatoses – Tuberous sclerosis, Sturge Weber etc,
neurofibromatosis.
– Chromosomal – Down’s, Fragile X, subtelomeric defects
– Maternal – TORCH infections, placental dysfunction,
radiation, alcohol, teratogens, Iodine
Organic MR: Etiology
• Perinatal
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Prematurity
SFD
Asphyxia, trauma, infection
Bilirubin toxicity
• Postnatal
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CNS infections
Trauma
Anoxia
Metabolic – hypoglycemia, hyponatremia etc
• Etiology: Diagnosis of etiology often
not possible
• Important questions:
– ? organic
– ? progressive
– ? treatable
MR – Treatable causes
• Cretinism
• Some inborn errors: Galactosemia, PKU
etc
• Toxoplasma/syphilis: if detected early
• Hydrocephalus
MR – Evaluation
• Suspect if delayed milestones in all 4
areas
• ‘too good’, ‘sleeps a lot’, feeding
difficulties, delayed language, school
failures, delinquency
• Screening Tests
• Confirm diagnosis: by IQ/DQ & SQ
• Etiology
• Associated problems
DQ = developmental age/chronological age X
100
• Larger motor component
• Preschool, toddlers & infants
IQ = mental age/chronological age X 100
• Measures memory, visuospatial function, etc,
takes average
• School children
If IQ/DQ is > 2 SD below mean on standard
psychometric scale (~ 70)MR
MR Evaluation:History
• h/o high risk events eg toxemia, placenta previa,
abruptio, fetal Xray, TORCH infection, teratogen,
consanguinity, multiple pregnancy
• FH/o MR
• Maternal age <16 or > 40
• Maternal undernutrition
• Birth asphyxia, LBW, birth trauma, apgar, neonatal
convulsions/hypoglycemia/severe jaundice
• Postnatally, intracranial infections, trauma, CVA,
anoxia
• H/o early milestones
• H/o regression of milestones  degenerative brain
disorder
MR Evaluation: Examination
• Look for stigmata or dysmorphisms –
seen in small % of normal, clue to organicity/
chromosomal/teratogen
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Development
Neurological examn
Hearing/vision/speech
Genitalia
Organomegaly
MR: Evaluation of associated problems
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CP – motor deficit
Visual/hearing defect
Convulsions
Strabismus
Hyperactivity
Feeding difficulties
Clumsiness
Disturbed sleep pattern
Emotional instability
Low frustration tolerance
problems
• Poor self esteem
• Obesity/ PEM
behavioral
MR: Investigations
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Karyotype, FISH for subtelomeric region,
MLPA, CGH
CT scan head – 72% normal, 20% atrophy,
8% specific abnormality in severe MR
T3, T4, TSH
TORCH antibodies
Xray skull
CSF
For biochemical defects (IEM): TMS/ GCMS
MR - Management:
• Discuss with both parents after full work up
• Compassion, sympathy, truth
• Assist family to adapt, remove guilt, build
self esteem
• Emphasize abilities, not just disability
• Same basic care – tender, loving
• High appreciation
• Short term goals & objectives
• No harsh criticism
MR: Management Contd
• Infant stimulation programs – aim at
optimum potential
• Structured learning
• Special classes
• Sheltered workshops
• Institutionalisation
• Management of associated problems –
– Physiotherapy
– Anticonvulsants
– Treat hyperactivity
MR - Prevention:
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Genetic counseling
Rubella vaccine
Folic acid
Good antenatal & perinatal care. High risk
approach
• Early recognition & management of
infections, metabolic derangements,
hyperbilirubinemia
• Metabolic screening for PKU, cretin
• Prenatal diagnosis of Down’s
Down’s syndrome
• Most common chromosomal disorder 1:800 1:1000 newborns
• Trisomy 21
• Extra chromosome may be maternal or paternal
• Advanced maternal age
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15-29 yrs 1:1550
30-34 yrs 1:800
35-39 yrs 1:270
40-45 yrs 1:100
>45 yrs 1:50
• Regular trisomy in 94%; 5% translocations; 1% mosaic
Downs: Clinical features
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Mental & physical retardation
Hypotonia
Happy disposition
Music lovers
Facies:
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flat occiput
oblique palpebral fissures
Epicanthal folds
Small nose with flat nasal bridge
Small, furrowed, protruding tongue
Ears small, dysplastic
Downs: Clinical features
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Short, broad hands
Clinodactyly
Simian crease
Wide gap between 1st and 2nd toes
Brushfield spots in iris - in light skinned
people
• Typical dermatoglyphics: distal triradius,
ulnar loops
Downs: Other problems
• Congenital heart disease: endocardial
cushion defect, VSD, PDA
• Hypothyroidism in 13-54% of older
patients
• Higher risk of chronic myeloid leukemia,
anorectal malformations, duodenal atresia
• Frequent lower respiratory infection,
chronic rhinitis
Down’s: Risk of recurrence
• Risk is 1% with normal parents and one affected
child
• 10% risk if mother is a translocation carrier
• 5% if father is translocation carrier
Antenatal Dx:
– Chorionic villus sampling at 10-12 wks or amniocentesis at 16
wks offered to pregnancies > 35 yrs/ one affected child
– In others with less risk, Triple test - maternal sAFP, HCG and
estriol levels : sens 70%, spec 95%
– Quadruple test: Add inhibin A – sens  to 81%
– USG : nuchal thickness, length of femur & humerus
THANK YOU
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APPROACH TO DEVELOPMENTAL DELAY