Child with Global developmental delay - History taking and Examination

Table of contents

  • Introduction
  • Chief complaints, HOPI and OPD structure
  • Other histories
  • Signposting
  • Examination - General, Neurological and other systems
  • Diagnosis & Differential
  • Approaching a child with GDD

Often a case with Global developmental delay is kept in the exam for history taking and physical examination. Taking a full history and finishing the examination is a relatively time taking exercise in CNS cases. Therefore remembering a structured format is very important. The post focuses on this.

Following is the history taking and examination scenario for a child with Global developmental delay.

Before moving on to the case presentation, let us be clear on when to call it a Global developmental delay in a child.

Developmental delay vs global developmental delay - To be called it a global developmental delay, the child must have a functional delay in two or more domains of development.

Intellectual disability vs global developmental delay - For children less than 5 years of age the term global developmental delay is used, If the child is more than 5 years, it's called an Intellectual disability.

So, this time our dummy patient is Laila, she is 4 yr old little girl currently undergoing therapy for walking and speech.

Introduction

Laila, 4 yr old girl, 1 st born out to consanguineous parents, Muslim by religion, resident of Park circus, Kolkata came to OPD with her mother for her scheduled therapy today. Informant being the mother who seems to be very reliable. ( AVOID USING THE TERM ‘PATIENT PARTY’. CALL CAREGIVERS/RELATIVES )

Chief complaints:

1. Inability to walk
2. Inability to speak words


Avoid using words like - Not attaining age-appropriate milestones, rather use specific issues in each domain.

History of present Illness

There are two ways to describe HOPI in this case.

  1. Start from birth history if it is significant, say, for example, neonatal asphyxia or bilirubin induced neural damage.
  2. Start from the point where the caregiver first doubted the delay and then go back in the past.

The history of present illness should be like a story, a story which links step by step rather than an unorganized one.

ODP is a good structure format to organize HOPI, it's a sequence of Onset, Duration followed by progression.

O: Onset

Laila was first suspected to have a delay in development by her grandma when she was not able to hold her neck even at the age of 6 months, also she was quieter than other babies, not making much sound.

D: Duration- continued

Define the timeline of various symptoms and problems observed by parents or carer and how long they continued, whether some problems resolved over a period of time or they continued.

P: Progression

This will elaborate how the symptomatology, severity progressed,

Let us try to present Laila's symptom progression. 

Laila was taken to doctors at the age of 6 months of age and she underwent some tests along with a scan of the brain. But all of those came out to be normal.

Her mother noticed that she was slipping from her lap sometimes and felt very loose. She was able to hold her neck for a few seconds by 1 year of age. 

Laila was not gaining enough weight also. By her 2 nd birthday, they went to another doctor and found she has a problem with hearing and was given a hearing aid in both ears.

Eventually, she could sit with support, can transfer objects from one hand to the other, and produce some cooing sound, She also started playing with some bright colored toys. With ongoing physiotherapy, the limpness started getting better.

Now she can stand on her own and walk a few steps with support, can utter few monosyllables, can eat a biscuit by herself, and is afraid of strangers as a social behavior.

She takes feed well but prefers semisolid food. She sleeps well and does not have any history suggestive of sleep-disordered breathing.

There is no functional problem with the bladder, bowel habits although She can only sometimes tell that she has to pee. 

History on leading questions

There is no h/o seizure, drooling of saliva, frequent cough during feeding.
There is no h/o birth trauma, delayed cry, NICU stay, no postnatal complication other than difficulty in breastfeeding (To rule out HIE, kernicterus, infection)

No h/o constipation (not hypothyroidism)
No h/o loss of attained milestones (not degenerative)
No h/o similar problem in the family (It does not completely rule out genetic disease)
Functional disability and the impact of the disease on the family must be mentioned.

H/o past illness: Like frequent respiratory infections,  Mention if relevant.

Pre-natal, intra-natal, post-natal history

This is very very important in this case, Teke detail the history of

  1. Age of parents at conception
  2. Any previous abortion or stillbirth
  3. Periconceptional folic acid
  4. Diagnosis of pregnancy when?
  5. All trimester any complication fever, bleeding?
  6. Routine blood test, USG, medication if any?
  7. The anomaly scan is done or not?
  8. Quickening felt at what time?
  9. Adequate fetal movements felt?
  10. Mode of delivery? Any instrumentation?
  11. Any Fever around delivery at all?
  12. First feeding when? Any prelacteal feed? Any dysmorphic look? Edema?
  13. What feeding difficulty? Coordination problem of suckling swallowing.
  14. Movement of all 4 limbs after birth
  15. NICU stay?
  16. Neonatal vistits, vaccines

Nutritional history

Leila was not gaining weight, Nutritional history is significant and should be taken in detail in this particular case so as to know what impacted her weight gain.

Full 24-hour recall with calorie and protein deficit should be calculated. Remember a child with a genetic disease can have very little weight even with adequate nutritional intake due to other issues like malabsorption

Developmental history:

Discuss all 4 domain one by one in order, Tell what is are the current milestone child has achieved and what she should have achieved normally. This leaves no further questions in the examiner's mind.

DQ can be calculated from history ( mention the DQ is based on history) but better to comment after a physical examination. Sometimes parents do not exactly remember the milestones and this might give a wrong developmental quotient.

Immunization history: 

Mention vaccines and the time is given, or if anything is missed. If missed why?

Family history:

Since this is a CNS case, better to draw, 3 generation pedigree. Consanguinity needs to be proved.
Mention if anyone has a similar illness in the family tree, or any congenital disease.

Socio-economic history:

Socioeconomic status of the father,/mother/carer., Monthly expenses for the child are going to be more than usual, mention that. The attitude of the caregiver toward the child need to be mentioned. Any safeguarding issues at home.

Treatment/Drug history:

Mention types of physiotherapy is being given, What other treatment like speech therapy the child is receiving at present. How frequently the sessions are planned. Etc.

Signposting/Summarizing after history

Laila, a 4yr old girl born out of 3rd consanguineous marriage, with global developmental delay without any significant birth or family history seems to have dysmorphic features probably pointing towards a genetic syndrome that cannot be named based on history.

Examination:

Start with the opening remark, the first impression or thing you felt of the child, like dysmorphic, hypotonic, what was the posture when you were interacting etc.

A. General examination:

Anthropometry:

Mention Height, weight, head circumference of a child in the usual manner. Mention the previous record and classify the growth status.

Vitals

use PICCLE to remember, the sequence for mentioning vitals. 

Head to toe examination

Mention the dysmorphic feature from head to toe and see if it fits under specific syndrome-like DOWNs, Hypothyroidism etc. If you cannot determine, mention your inability. Even the finest neurologist will take some time and details to diagnose a syndromic child, Do not worry.

Development Quotient

Examine all domains and confirm with history, mention it like 50% in Gross motor, 40% in language, cover all the domains. (Its good to mention DQ before neurological examination coz a child with DQ of 50% is not expected to cooperate examination)

B. Neurological examination:

There will be the case with a lot of neurological signs and there will be some, where most of the things are just based on observations.

Higher function

Alert, active, oriented to self, whether taking interest in the surrounding.

Cranial nerve

No apparent cranial nerve palsy

Motor system:

image

Sensory system:

Response to touch and pain. In most of these cases, detailed examination findings could not be obtained as mostly the kids are under 5 and they cannot give answers to question. Mostly state your observation and mention the incapabilities.

CEREBELLAR SIGNS

Could not be tested for Laila.

Cranium n spine

Mention shape, size, and visible abnormalities. Microcephaly, macrocephaly, sutures, scoliosis, kyphosis.

C. Other Systemic Examination

Respiratory:

Mention finding of recurrent respiratory infection etc, There was none in case of laila.

Cardiovascular:

These kids might have congenital heart disease as well, so look carefully for murmurs.

Abdomen:

Look for organomegaly, (here is the history taking for hepatosplenomegaly) it goes in favor of storage disorder associated with developmental delay. Here is the list of a genetic syndrome in children

Summarise your findings.

Diagnosis and differntials

Diagnosis in the case of Laila can be put this way

A case of global development delay born out of consanguineous marriage with dysmorphic facies, hypotonia, feeding difficulty with grade 1 malnutrition with a functional disability of …(degree) without apparent skeletal abnormality or other major system involvement, most probably a case of inherited genetic disease/ syndrome.

E. Approach to the child with global developmental delay

approach to child with global developmental delay
Fig.1 - Approaching to a child with Global developmental delay.

auhtor

About Author

Mandira Roy | DNB(Pediatrics), fellowship in Devlopemental Pediatrics

Mandira has completed her pediatric residency at the Institute of Child health Kolkata and currently working as a Pediatrician with special focus on developmental medicine.