APPROACH TO DEVELOPMENTAL DELAY PROF RASHMI KUMAR DEPARTMENT

APPROACH TO DEVELOPMENTAL DELAY PROF RASHMI KUMAR DEPARTMENT OF PEDIATRICS KGMU

Normal 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

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 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 • • • 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 problems • Poor self esteem • Obesity/ PEM behavioral

MR: Investigations • • Karyotype, FISH for subtelomeric region, MLPA, CGH CT scan head – 72% normal, 20% atrophy, 8% specific abnormality in severe MR T 3, T 4, 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 1 st and 2 nd 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 s. AFP, HCG and estriol levels : sens 70%, spec 95% – Quadruple test: Add inhibin A – sens to 81% – USG : nuchal thickness, length of femur & humerus

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