APPROACH TO DEVELOPMENTAL DELAY PROF RASHMI KUMAR DEPARTMENT OF PEDIATRICS KGMU.

APPROACH TO DEVELOPMENTAL DELAY

PROF RASHMI KUMAR

DEPARTMENT OF PEDIATRICS

KGMU

Normal DevelopmentDevelopmental TestingScreeningFormal TestingDifferential Diagnosis of delayMental 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 Screen6months - 2years Developmental Screening Graph

0 5 10 15 20 25 30

Arms & legs thrust in playLateral head movementFollows moving person

Social smile Holds head steady

Recognizes motherLaughs aloud

Reaches for dangling ringTurns head to sound

Turns supine to prone Sits alone steadily

Retains 2 things in 2 handsRaises self to sitting

Playful response to mirrorSays da-da ma-ma

Waving ta-taFine prehension

Stands by furnitureInhibits on command

Walks with helpStands alone

Speaks 2 words with meaningStands up

Walks aloneGestures for wants

Speaks sentences of 2 wordsWalks 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 & infantsIQ = mental age/chronological age X 100• Measures memory, visuospatial function, etc,

takes average• School childrenIf 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 carrierAntenatal 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