Developmental Delay: Long Case Proforma

NTRUHS Pediatrics Final Year Part 2 Practical Examination

Possible chief complaints

1. Delayed motor milestones
   • “Child is not holding neck at ___ months.”
   • “Not sitting without support at ___ months.”
   • “Not standing/walking at ___ years.”
   • “Child walks on toes / has frequent falls.”
2. Speech and language delay
   • “Child has not started speaking at ___ years.”
   • “Child speaks only single words.”
   • “Child does not understand commands.”
   • “Loss of previously acquired speech.”
3. Global delay
   • “Child is delayed in all milestones since infancy.”
   • “Child is not doing activities appropriate for age.”
   • “Child is unable to feed/dress/toilet independently compared with peers.”
4. Poor social interaction or suspected autism
   • “Does not respond when called by name.”
   • “Does not make eye contact.”
   • “Does not play with other children.”
   • “Has repetitive movements / hand flapping / unusual play.”
   • “Does not point to indicate needs.”
5. Poor academic performance / learning difficulty
   • “Poor school performance for ___ years.”
   • “Unable to read/write or keep up with classmates.”
   • “Hyperactivity, inattention, or behavioural problems.”
6. Developmental regression
   • “Child had attained milestones but lost them since ___.”
   • “Previously walked/spoke but has stopped.”
   • “Loss of hand skills, social smile, bowel or bladder control.”
7. Associated neurological symptoms
   • Seizures or abnormal movements
   • Abnormal gait, stiffness, weakness, involuntary movements
   • Persistent vomiting, headache, visual or hearing concern
   • Feeding difficulty, drooling, choking

Example of writing chief complaints

Delayed walking since 18 months of age, delayed speech since 2 years of age, and poor social interaction since infancy.

Long Case History Proforma

1. Identification data

• Name:
• Age:
• Sex:
• Address:
• Informant and reliability:
• Date of admission/examination:
• Religion:
• Socioeconomic status:
• Birth order:
• Consanguinity:
• Schooling status:
  • Not attending school / regular school / special school
  • Class appropriate for age or not

2. Chief complaints

3. History of present illness

A. Onset and course

• When was the delay first noticed?
• Who noticed it first?
• Was development delayed from birth, or was it initially normal?
• Is the delay static, improving, or progressive?
• Is there regression, that is, loss of any acquired skill?
• Was there a precipitating event, such as fever, seizures, head injury, CNS infection, hypoxic event, or psychosocial stressor?

B. Establish the pattern of delay

• Global developmental delay (GDD): significant delay in two or more developmental domains in a child younger than 5 years.
• Isolated developmental delay: delay predominantly in one domain, for example isolated speech delay or gross motor delay.
• Developmental regression: loss of previously acquired milestones. This is a red flag and requires urgent etiological evaluation.

1. Gross motor
2. Fine motor and vision
3. Language: receptive and expressive
4. Personal-social development
5. Adaptive and cognitive skills

4. Detailed developmental history

A. Gross motor milestones

• Persistent fisting
• Scissoring of lower limbs
• Toe walking
• Frequent falls
• Asymmetry of hand use before 18 months
• Hand preference before 18 months, which may suggest hemiplegic cerebral palsy
• Difficulty rising from floor, waddling gait, or Gowers sign, suggesting neuromuscular disease

B. Fine motor and visual milestones

• Does the child use both hands equally?
• Does the child recognize familiar people and objects?
• Is there squint, poor visual fixation, nystagmus, or apparent visual impairment?
• Does the child have hand stereotypies, hand wringing, or mouthing of hands?

C. Language development

• Does the child hear well?
• Does the child turn toward sound?
• Does the child understand simple and complex commands?
• How many meaningful words can the child speak?
• Does the child communicate by pointing, gesture, or leading the caregiver?
• Any echolalia, jargon, pronoun reversal, abnormal intonation, or loss of words?

D. Personal-social development

• Eye contact
• Response to name
• Joint attention
• Pointing to share interest
• Showing objects to parents
• Imitation
• Pretend play
• Peer interaction
• Restricted interests
• Repetitive play
• Hand flapping, rocking, spinning
• Insistence on sameness
• Sensory hypersensitivity or unusual sensory seeking

E. Adaptive and cognitive development

• Recognition of parents and familiar people
• Object permanence
• Ability to find hidden objects
• Matching shapes/colors
• Identifying body parts
• Counting, colours, alphabet, reading and writing as age appropriate
• Self-feeding
• Drinking from cup
• Toilet training
• Brushing teeth
• Dressing and undressing
• Awareness of danger
• Ability to follow routines

5. Developmental quotient

6. Antenatal history

• Maternal age at conception
• Gravida, parity, abortions, stillbirths
• Antenatal registration and regular checkups
• Fever with rash, TORCH-like illness
• Hypertension, diabetes, thyroid disease, anemia
• Seizures or drug intake during pregnancy
• Alcohol, smoking, tobacco, substance exposure
• Radiation exposure
• Trauma
• Reduced fetal movements
• Polyhydramnios or oligohydramnios
• Maternal infections, especially rubella, CMV, toxoplasmosis, syphilis, HIV
• Assisted reproductive conception
• Fetal growth restriction or abnormal antenatal scans
• Medication history, including antiepileptic drugs and teratogenic drugs

7. Natal history

• Place of delivery: home/institution
• Conducted by:
• Mode of delivery: vaginal, instrumental, LSCS
• Gestational age: term/preterm/post-term
• Presentation and complications
• Birth weight
• Delayed cry at birth
• Need for resuscitation, oxygen, ventilation, NICU admission
• APGAR score if known
• Meconium-stained liquor
• Birth trauma
• Multiple pregnancy

• Severe birth asphyxia
• Delayed cry
• Prolonged NICU stay
• Neonatal seizures
• Need for ventilation

8. Postnatal history

• Neonatal seizures
• Jaundice, especially severe jaundice requiring phototherapy/exchange transfusion
• Hypoglycemia
• Sepsis/meningitis/encephalitis
• Intracranial bleed
• Prolonged ventilation
• Feeding difficulties or recurrent aspiration
• Failure to thrive
• Recurrent vomiting
• Head injury
• CNS infection
• Seizures: onset, type, frequency, duration, fever association, medication, control
• Hearing impairment
• Visual impairment
• Recurrent respiratory infections
• Chronic diarrhea, malabsorption, nutritional deficiency
• Pica
• Lead exposure or other toxin exposure

9. Past history

• Previous hospital admissions
• Meningitis, encephalitis, tuberculosis, cerebral malaria
• Head injury
• Seizure disorder
• Hypothyroidism
• Chronic liver, renal, cardiac, or respiratory disease
• Previous developmental assessment
• Hearing and ophthalmology assessment
• Neuroimaging, EEG, metabolic/genetic test results
• Physiotherapy, occupational therapy, speech therapy, special education
• Current medications, especially antiepileptics

10. Nutritional history

• Breastfeeding initiation and duration
• Complementary feeding started at what age?
• Adequacy and diversity of diet
• Feeding difficulty, choking, prolonged feeds, food refusal
• Current 24-hour dietary recall
• Appetite
• Pica
• Micronutrient supplementation
• Growth pattern and weight gain

11. Immunization history

• Immunization status according to National Immunization Schedule
• Any adverse event after immunization
• Vitamin A supplementation
• Deworming history where relevant

12. Family history

• Similar illness in siblings or relatives
• Developmental delay, intellectual disability, autism, epilepsy, cerebral palsy
• Unexplained infant/child deaths
• Recurrent abortions or stillbirths
• Psychiatric illness
• Metabolic disease
• Consanguinity: degree of relation
• Pedigree chart for at least three generations, if relevant

13. Personal, social and environmental history

• Type of family: nuclear/joint
• Primary caregiver and quality of stimulation
• Parental education and occupation
• Socioeconomic status
• School attendance and special education
• Screen exposure: television/mobile phone duration
• Interaction with peers
• Neglect, abuse, deprivation, institutionalization
• Family stress, domestic violence, parental substance abuse
• Housing, sanitation, lead exposure, access to therapy and rehabilitation services

Examination Proforma

1. General observation

• Alertness and interaction with parent/examiner
• Eye contact
• Response to name and sounds
• Spontaneous speech, gestures, play
• Stereotypies
• Hyperactivity/inattention
• Gait and posture
• Use of both hands
• Drooling, feeding ability
• Behaviour, irritability, self-injury
• Presence of regression or loss of interest in surroundings

2. General physical examination

• Weight, length/height, BMI
• Head circumference and plotting on chart
• Mid-parental height where appropriate
• Nutritional status
• Pallor, icterus, cyanosis, clubbing, edema, lymphadenopathy
• Dysmorphic features:
  • Facial asymmetry
  • Low-set ears
  • Epicanthal folds
  • Hypertelorism
  • Depressed nasal bridge
  • Micrognathia
  • Macroglossia
  • Coarse facies
• Neurocutaneous markers:
  • Café-au-lait spots
  • Ash-leaf macules
  • Shagreen patch
  • Facial angiofibromas
  • Port-wine stain
  • Hypopigmented lesions
• Skin/hair abnormalities
• Organomegaly
• Skeletal abnormalities:
  • Clinodactyly
  • Syndactyly/polydactyly
  • Single palmar crease
  • Chest deformity
  • Spinal deformity
• External genitalia where indicated

• Microcephaly: may indicate prenatal insult, genetic disorder, congenital infection, or neurodegenerative disorder.
• Macrocephaly: may be seen in hydrocephalus, storage disorders, neurocutaneous syndromes, or some children with autism.

3. Developmental assessment at bedside

• Rattle, bell, toy, ball
• Cubes
• Picture book
• Crayon and paper
• Spoon/cup
• Simple commands
• Ask caregiver about activities that cannot be elicited in hospital

• Developmental age in each domain
• Developmental quotient
• Whether delay is global or isolated
• Any loss of attained milestones

4. Central nervous system examination

Higher mental functions, appropriate to age

• Attention
• Eye contact
• Response to name
• Comprehension
• Speech
• Memory where assessable
• Play and social interaction

Cranial nerves

• Vision and visual fixation
• Fundus examination if possible
• Pupillary reactions
• Squint/nystagmus
• Hearing response
• Facial symmetry
• Palatal movement
• Swallowing, drooling, tongue movements

Motor system

• Bulk
• Tone: hypotonia, spasticity, rigidity, dystonia
• Power, as possible
• Deep tendon reflexes
• Plantar response
• Involuntary movements
• Contractures
• Gait: spastic, ataxic, waddling, toe-walking
• Cerebellar signs where feasible

Sensory system

• Gross assessment for response to touch/pain
• Look for sensory deficits in children with cerebral palsy or peripheral neuropathy

Signs of raised intracranial pressure

• Increasing head size
• Persistent vomiting
• Headache
• Papilledema
• Sunset sign

5. Other systemic examination

• Congenital heart disease in Down syndrome or congenital rubella
• Hepatosplenomegaly in storage disorders/metabolic disease
• Skeletal dysplasia
• Signs of rickets
• Muscle hypertrophy or wasting in neuromuscular disease

Case Summary Format

___ year old ___ sex child, born of ___ order consanguineous/non-consanguineous marriage, with significant antenatal/natal/postnatal history of ___, presented with delayed ___ milestones since ___ and/or regression since ___. Developmental assessment shows delay in ___ domains, with estimated developmental age of ___ and DQ of ___. The child has associated ___ such as seizures, abnormal tone, visual/hearing deficit, behavioural abnormalities, dysmorphism, or neurocutaneous markers. Examination reveals ___. Hence, this is a case of global developmental delay/isolated developmental delay with probable ___ etiology.

Provisional Diagnosis Examples

1. Global developmental delay with spastic quadriplegic cerebral palsy, likely secondary to perinatal asphyxia.
2. Global developmental delay with developmental regression and epilepsy, requiring evaluation for a neurodegenerative/metabolic disorder.
3. Global developmental delay with dysmorphism and hypotonia, probable genetic/chromosomal syndrome.
4. Isolated expressive language delay, with hearing impairment to be excluded.
5. Social communication delay with restricted repetitive behavior, suggestive of autism spectrum disorder.
6. Gross motor delay with proximal muscle weakness, evaluate for neuromuscular disorder such as muscular dystrophy.

Important Differentials to Mention in Viva

Points Examiners Commonly Expect

• Clearly distinguish delay from regression.
• Assess all five developmental domains, not only motor and speech.
• Ask for hearing and vision in every child with developmental delay.
• Elicit antenatal, perinatal, postnatal, family, and psychosocial causes.
• Examine for dysmorphism, neurocutaneous markers, microcephaly/macrocephaly, tone, reflexes, and gait.
• Mention early intervention: physiotherapy, occupational therapy, speech therapy, special education, parental counselling, and treatment of the underlying cause.
• Do not label a young child as having intellectual disability only on clinical impression. Formal age-appropriate developmental or cognitive testing is needed.