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IS DEVELOPMENTAL DELAY PREVENTABLE ?
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BIHAR PEDICON 2006
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Dr. J.P.N. Barnwal ,
Associate Professor, PMCH, Patna
Dr. Raja Ram Pd. Singh, Associate Professor, PMCH, Patna
Dr. Gopal Saran,Assistant Professor, Pediatrics, PMCH, Patna
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Yes, to a large extent. Let us first know what DD is?
DD:DQ <65-75% at risk of DD. When a child can't perform an item (gross motor, coordination and fine motor, personal social and language), which 90% of children of children of his age can perform, he is suffering from DD.
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.
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: Commoner 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/Cax100) 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.
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Genetic: Down syndrome, inborn errors of metabolism-phenylketonuria, galactosemia
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Prematurity: <1500 gm (5-10%), <1000 gm (20%).
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Birth asphyxia, Prenatal/neonatal infections, Cretinism.
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CNS malformations : Schizencephaly, Migration defects.
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Severe and profound DD may have blindness, deafness, seizure, motor disabilities.
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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 |
4 th mo |
1-3 mo |
| Smiles at others (social) |
6 th mo |
2 mo (1-4 mo) |
| Holds head steady |
6 th mo |
4 mo (2-6 mo) |
| Sits alone steady |
12 th mo |
8 mo (5-10 mo) |
| Stands alone steady |
18 th mo |
1 year (9-14 mo) |
| Walks well |
20 th mo |
10-20 mo |
| Talk in 2-3 words |
3 rd yea |
10-30 mo |
| Talk in 2-3 words |
3 rd yea |
10-30 mo |
| Tells name / eats, drink self |
4 th year |
2-3 years |
| Toilet control |
4 th 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:
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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 (Baley 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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Last Updated on 15-09-2006
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Bihar Pedicon 2006 - Conference Abstracts.Pediatric Oncall [serial online] 2006 [cited 15 September 2006(Supplement 9)];3. Available from:
http://www.pediatriconcall.com/fordoctor/Conference_abstracts/ BIHAR_PEDICON/developmental_delay.asp
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