IS DEVELOPMENTAL DELAY PREVENTABLE?
Dr. J.P.N. Barnwal*, Dr. Raja Ram Pd. Singh**, Dr. Gopal Saran***
Associate Professor, PMCH, Patna *, Associate Professor, PMCH, Patna **, Assistant Professor, Pediatrics, PMCH, Patna ***
Yes, to a large extent. Let us first know what DD is..

Development Delay (DD): Development Quotient < 65-75% at risk of DD. When a child can't perform an item (gross motor, co-ordination and fine motor, personal social and language), which 90% of children of children of his age can perform, he is suffering from DD.

Mental Retardation (MR): A generic name for intellectual disorders of variable causes, criteria being:
  • Low intelligence (IQ < 70) clinically judged in case of infants
  • Impaired adaptive and social functioning
  • Onset before maturity i.e. < 18 years

Cerebral Palsy (CP): A disorder of mainly of movement and posture due to non-progressive injury to developing brain up to the age of 5 years.

A child with MR and CP has developmental delay.

Prevalence: 3% in the general population (2.5% in USA), 1% in school children.

Sex: Common in boys than in girls - 2:1 (mild DD), 1.5:1 (severe DD), may be due to X linked disorders like Fragile X syndrome.

Classification of MR: IQ (MA/Ca x 100) based on intelligence tests in auditory memory, visual-spatial capability and receptive and expressive language.

Normal: IQ 90-110, Borderline: IQ 70-90, low achiever, independent life, psychosocial.

Criteria Mild Moderate Severe Profound
IQ 51-70 26-50 21-35 < 20
Prevalence 85% 5-10% 5 10
Major  grading Educable Trainable Unable to manage self Unable to guard
Social  Functions Well adjusted repetitive work independent Well adjusted Special training Semi Dependent Simple conversation Minimal self care Minimal language very min. self care Total supervision


International classification of DD:Based on etiology:
  • SDD (Severe type): DQ<50, 0.3-0.2% of population. Mainly biological causes affecting embryogenesis or severe early brain insult like.
  • Genetic: Down syndrome, inborn errors of metabolism-phenylketonuria, galactosemia
  • Prematurity: <1500 gm (5-10%), <1000 gm (20%).
  • Birth asphyxia, Prenatal/neonatal infections, Cretinism
  • CNS malformations: Schizencephaly, Migration defects
  • Severe and profound DD may have blindness, deafness, seizure, motor disabilities
  • MDD (mild type): DQ 50-70, 85%, difficult to diagnose than SDD

Diagnosis:
  • History:
    Gestational history, timing and mode of delivery, first cry, birth weight, birth asphyxia, birth trauma, pathological jaundice, After birth stay in hospital.
    Age at detection, co-existing medical problems like seizure disorders, sleep and behavioral problems, previous rehabilitation services, investigations and laboratory tests, school performance, family history, consanguinity, h/o substance use etc. in mother, father.
  • Physical examination:
    Dysmorphism, head circumference shape of head, fontanels and sutures, spine abnormalities, Face, Eyes, Ears, Cutaneous markers, Other anomalies, Cranial nerves, tone (hypo/hyper), Strength (paucity of movements), Deep tendon reflexes (exaggerated), Cerebellar signs, Abnormal or persistent neonatal reflexes Moro, ATNR (atypical tonic neck reflex), Postural responses (neck tightening).


Parameters Dd, if not achieved Normal Range
Response to voice    4th mo   1-3 mo
Smiles at others  (social)    6th mo   2 mo (1-4 mo)
Holds head steady    6th mo    4 mo (2-6 mo)
Sits alone steady 12th mo    8 mo (5-10 mo)
Stands alone steady    18th mo   1 year (9-14 mo)
Walks well    20th mo    10-20 mo
   Talk in 2-3 words   3rd yr   10-30 mo
   Talk in 2-3 words   3rd yea   10-30 mo
Tells name / eats, drink self    4th year    2-3 yrs
Toilet control    4th year   3-4 years


Common Presentations:
First few mo: dysmorphism, poor suckling, feeding difficulties, extremely irritable or lethargic, floppy or spastic, asymmetry of movements, lack of visual or auditory response, no social smile, poor head control.

Infancy: Persistent fisting beyond 3mo, no sitting, standing, hand preference before 12 mo Toddlers (2-3 years): delayed speech, Preschool: language problem, delay in fine motor skills like cutting, coloring, drawing, behavior problems, School going (> 5 years): poor learning, behavior problems like in attention, anxiety, mood changes.
Commonly used Tests:
Developmental tests:

  • DDST: Assessment of 4 areas of development up to 6 years in 10-25 m.
  • Gessel development schedule: Dx and evaluation rather than milestones up to 5 years.
  • BSID (BaYley scale for infant development): 1 month to 3½ years to assess language, visual problem-solving skills, behavior, fine and gross motor skills.
  • Baroda development screening test: BSD based standardized on Indian children.
  • Trivandrum development screening chart: based on 17 selected items of BISD Baroda norms up to 24 mo in 5-7 m.
  • Development screening test: up to 15 years, standardized on Indian children. These development tests do not predict future IQ and have limitations.

Intelligence tests in children:
  • WPPSI-R (Wechsler Preschool and Primary scale of intelligence-revised): for 3-7 years.
  • WISC-III (Wechsler intelligence screening chart): mental age> 6 years.

Tests for adapting functions:
  • VABS (Vineland adaptive behavior scale)
  • ABS: Stability of adaptive skills through adulthood in Prader-Willi syndrome, increasing adaptive defects in Fragile X-syndrome

Investigations:
  • Urine Metabolic Screening
  • Urinary amino acids
  • Blood: VMA, ammonia, lactate, lead, copper, uric acid, ca, phosphate, very long chain fatty acids, alkaline phosphatase, CPK, serum T3 T4 & TSH.
  • Serology: TORCH, AIDS, Chicken pox, Syphilis.
  • Radio imaging: Bone age, x-ray skull: craniosynostosis, calcifications. CT, MRI: gross malformation of brain, infarct/hemorrhage, PVL, porencephaly, mass, tumors, nodule, hydrocephalus
  • Neuro electro physiological tests: EEG, EMG, NCV visual and auditory EP.
  • ENZYMEASSAYS
  • T/t ANDEM MASS SPECTROMETRY (TMS) on blood filter paper spots.
  • Cytogenetic studies: Chromosomal analysis-Karyotyping if abnormal genitals. History of exposure to teratogens, Down syndrome, Fragile X syndrome.
  • Specific mitochondrial tests in selected cases.

Prevention: Although DD can't be treated but it can be prevented to a large extent.

Primary Prevention: Measures before, during and after delivery, and infancy and childhood that can stop the occurrence of DD.
  • Early prenatal care and use of folic acid to prevent neural tube defects.
  • Prenatal diagnosis of chromosomal and genetic diseases, biochemical diseases and given advice-choice of reproduction left to the family.
  • Immunization program: MMR to all children at 15-18 mo, Rubella vaccine to all girls and especially before marriage and at least 3 mo before conception, varicella, JB, Meningococcal and Hib vaccines.
  • Avoid consanguineous marriage to prevent AR metabolic disorders.
  • No marriage of adolescent girls <18 years and family education to adolescents to prevent adolescent pregnancy and transmission of STDs and HIV.
  • No pregnancy > 35 years to prevent Down syndrome.
  • No use of alcohol, smoking, drugs or substance especially during pregnancy.
  • Better antenatal and obstetric care:At least 3 antenatal checkups, Nutritional support, Avoidance of teratogenic drugs, hormones, iodides, anti-thyroid drugs, irradiation and contact with viral infections during pregnancy.
  • Safe delivery and neonatal care: Prevention and management of birth injuries, asphyxia, hypoglycemia, hypothermia, hyperbilirubinemia and sepsis.
  • Accident prevention: (a) Railing and guards on roofs to prevent falls and other accidents in the home, (b) Appropriate seat restraints during driving and helmets during biking and skate boarding.
  • Improving psycho social and cultural factors: Marriage age, stability of marriage, limiting the number of children, compulsory education especially to ten girls, improving poverty, public awareness, community progress etc.

Secondary Prevention:
  • Pre-symptomatic detection: (a) Newborn screening for inborn errors of metabolism, hypothyroidism, (b) Newborn hearing screening, (c) Pre-school lead poisoning prevention
  • Early diagnosis and prompt treatment of CNS infection, cretinism, neonatal hyperbilirubinemia, galactosemia, PKU, Homocystinuria to prevent brain damage

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Barnwal J D, Singh P R R D, Saran G D.. Available From : http://www.pediatriconcall.com/fordoctor/ Conference_abstracts/report.aspx?reportid=462
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