GV Basavaraja

National President 2024

An Algorithm
Yogesh Parikh
Secretary 2024–25 Approach
to Pediatric
Atanu Bhadra
Treasurer 2024–25

National Scientific Convenor

Sumitha Nayak
Advisor
Diagnosis
Gnanamurthy Narasimha

Core Team Members

B Rajsekhar
Janani Shankar
Kripasindhu Chatterjee
Nehal Patel
Rupesh Masand

Section Editor
Sumitha Nayak
Section Co-Editor
Priya Shivalli
 Developmental Delay 8
Chitra Sankar

Introduction

Developmental delay refers to a failure to achieve the expected milestones in one or more domains within
the expected age range or time frame. There is a normal age range for every milestone in the developmental
domains—gross motor, fine motor, communication, cognition, and personal–social domains. Delay may
be specific to one or more domains of development. If present in two or more domains, it is called global
developmental delay.

Etiology

The etiology of developmental delay is given in Table 1.

TABLE 1: Genetic and nongenetic etiology of developmental delay.
Genetic Nongenetic
Chromosomal abnormalities (e.g., trisomy 21 and Klinefelter Prenatal infections (TORCH, Zika, chickenpox), brain
syndrome) malformations, and congenital hypothyroidism
Single-gene disorders [e.g., fragile X syndrome, Rett syndrome, Perinatal factors (severe birth asphyxia, infections,
tuberous sclerosis, PKU, and inborn errors of metabolism (small prematurity, PVL, LBW, IUGR, hypoglycemia, and
molecule and lysosomal storage disorders)] bilirubin encephalopathy)
Defects of genomic imprinting (Prader–Willi syndrome and Environmental factors (traumatic brain injury,
Angelman syndrome) abuse, neglect, poverty, malnutrition, micronutrient
deficiency—iron, folate, vitamin D, and calcium)
Mutations (Duchenne muscular dystrophy and spinal Sequalae of childhood illnesses (meningitis,
muscular atrophy) encephalitis, and seizure disorders)
Deletion syndromes (Williams syndrome and DiGeorge Teratogens/toxins (smoking, fetal alcohol
syndrome) syndrome, lead, other toxins, maternal antiseizure
medications, and cytotoxic drugs)
Undetermined (familial) Undetermined (nonfamilial)
[PKU: phenylketonuria; PVL: periventricular leukomalacia; LBW: low birth weight; IUGR: intrauterine growth restriction;
TORCH: toxoplasmosis, others (syphilis, hepatitis B), rubella, cytomegalovirus, herpes simplex]
 Developmental Delay

Absolute Indications for

Further Workup

 No social smile, poor visual behavior, and response to sounds by 2 months

 No head control by 5–6 months and no bilateral transfer by 8 months
 No independent sitting by 9 months and no pincer grasp by 12 months
 No independent walking by 16 months and no running by 24 months
 No babbling, index-finger pointing, and gestures by 12 months
 No single words by 16 months, nonecholalic two-word sentences by 24 months, and three-word
sentences by 3 years
 Regression or loss of skills at any age

Red Flag Signs

 Dysmorphic features
 Clenched hands/dystonic posture/hand preference before 1 year of age
 Microcephaly or macrocephaly
 Tone abnormalities—hypertonia and hypotonia
 Muscle weakness
 Tongue fasciculations
 Hepatosplenomegaly
 Poor eye contact and strabismus
 Hyperactivity

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 Developmental Delay

Relevant Investigations
and Referrals

A comprehensive history, physical and neurological examination, and use of developmental screening
tools are essential for further evaluations.
Early intervention services including physical, occupational, and speech therapy are required for further
management.
Do not refer directly for therapy without an appropriate workup.
Do not take a “wait and watch” approach without screening and basic investigations.
Basic screening and investigations include:
 Hearing and vision check. In preterm, retinopathy of prematurity (ROP) screening is compulsory.
 Complete blood count, serum calcium, phosphorus, alkaline phosphatase, vitamin D, liver function
tests, and glucose
 Developmental delay with dysmorphic features: Karyotyping, chromosomal microarray
 Motor delay with high tone: Neuroimaging, preferably magnetic resonance imaging (MRI) of the brain
 Motor delay with normal/low tone: Check thyroid functions and creatine phosphokinase (CPK).
 Developmental delay with microcephaly: Neuroimaging—MRI brain, TORCH [toxoplasmosis, others
(syphilis, hepatitis B), rubella, cytomegalovirus, herpes simplex] screening, and retinal examination
 Developmental delay with the following signs suggestive of neurometabolic conditions: Unexplained delay
in development with or without family history and worsening with illness/high-protein diet/fasting
ƒ Hypoglycemia
ƒ Hepatosplenomegaly
ƒ Coarse facial features
ƒ Neurological regression
ƒ Seizures
ƒ Dysmorphism
ƒ Unexplained ataxia/spasticity
ƒ Abnormal urinary or body odors, hair abnormalities, ocular abnormalities like cataracts, and increased/
decreased pigmentation
 Isolated speech delay: Check hearing status, screen with MCHAT (modified checklist for autism in
toddlers).
 Global developmental delay: Investigate as above and refer for further management.
 Screening tools: Trivandrum Developmental Screening Tool (TDSC) or Denver Developmental Screening
Tool (DDST) is to be used.

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 Developmental Delay

Approach

(CPK: creatine phosphokinase; ENT: ear, nose, and throat; MCHAT: modified checklist for autism in toddlers;
MRI: magnetic resonance imaging; TFT: thyroid function tests)

Suggested Reading

 AlMutiri R, Malta M, Shevell MI, Srour M. Evaluation of individuals with non-syndromic global developmental
delay and intellectual disability. Children (Basel). 2023;10(3):414.
 Cleary MA, Green A. Developmental delay: When to suspect and how to investigate for an inborn error of
metabolism. Arch Dis Child. 2005;90:1128-32.
 Jullien S. Screening for language and speech delay in children under five years. BMC Pediatr. 2021;21(Suppl 1):362.
 Juneja M, Gupta A, Sairam S, Jain R, Sharma M, Thadani A, et al. Diagnosis and management of global development
delay: Consensus guidelines of growth, development and behavioral pediatrics chapter, neurology chapter and
neurodevelopment pediatrics chapter of the Indian Academy of Pediatrics. Indian Pediatr. 2022;59(5):401-15.
 Khan I, Leventhal BL. Developmental Delay. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing;
2023. [online] Available from https://www.ncbi.nlm.nih.gov/books/NBK562231/ [Last accessed January, 2024].
 Sharma AR, Siddiqui MS, Magar S, Kale A, Nelanuthala M, Singh SP. The etiological profile of global developmental
delay at a tertiary care hospital in India: An observational study. Cureus. 2023;15(6):e41066. 5