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 :
– Gross motor
– Fine motor
– Language
– Social

DDX of Delay:
• 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
0 5 10 15 20 25 30
Arms & legs thrust in play
Lateral head movement
Follows moving person
Social smile
Holds head steady
Recognizes mother
Laughs aloud
Reaches for dangling ring
Turns head to sound
Turns supine to prone
Sits alone steadily
Retains 2 things in 2 hands
Raises self to sitting
Playful response to mirror
Says da-da ma-ma
Waving ta-ta
Fine prehension
Stands by furniture
Inhibits on command
Walks with help
Stands alone
Speaks 2 words with meaning
Stands up
Walks alone
Gestures for wants
Speaks sentences of 2 words
Walks up & downstairs with help
Right hand mark-97% screen
Left hand mark-50% screen
Midpoint-75% screen

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:
• Draw a man
• Form Boards
• Coloured progressive matrices
• Raven’s Matrices
• VSMS/ VABS (Malin’s Adaptation) : Give Social
Quotient
Non verbal

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 IQ 70-90  90% Educable
• Mild 51-70
• Moderate 36-50 Trainable
• Severe 20-35  5% Custodial
• Profound <20
Prevalence: 2-3% children have IQ <70
• Only 0.4% have profound MR
<5 yrs, IQ not possible
DQ used  GDD

MR – ETIOLOGY:
Subcultural MR
• 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
– Prematurity
– SFD
– Asphyxia, trauma, infection
– Bilirubin toxicity
• Postnatal
– 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
• Development
• Neurological examn
• Hearing/vision/speech
• Genitalia
• Organomegaly

MR: Evaluation of associated problems
• CP – motor deficit
• Visual/hearing defect
• Convulsions
• Strabismus
• Hyperactivity
• Feeding difficulties
• Clumsiness
• Disturbed sleep pattern
• Emotional instability
• Low frustration tolerance behavioral
problems
• Poor self esteem
• Obesity/ PEM

MR: Investigations
• 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:
• 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
– 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
• Mental & physical retardation
• Hypotonia
• Happy disposition
• Music lovers
• Facies:
– flat occiput
– oblique palpebral fissures
– Epicanthal folds
– Small nose with flat nasal bridge
– Small, furrowed, protruding tongue
– Ears small, dysplastic

Downs: Clinical features
• 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