GLOBAL DEVELOPMENTAL DELAY: CASE PRESENTATION

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CASE  PRESENTATION ON GLOBAL DEVELOPMENTAL DELAY
Many a times patients with global developmental delay are kept in examination and taking a history and completing full examination can be quite tough(like all other neuro cases). A proper format is needed to be fast and also not missing any point.
The basic concept is, Term to be used
When the child < 5 yrs = Global developmental delay
                5 yr – 18 yr = 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
(Its better not to write not attaining age appropriate milestones if mother does not say so)

HOPI:

2 ways to describe hopi in this case
1. Start from birth history if its significant
2. Start from the point where caregiver first doubted delay


Now for HOPI, it has to be like a story
ODP
O: Onset

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

D: Duration- continued

P: Progression

So, laila was taken to doctors at 6 months of age and she undergone some tests along with a scan of brain. But all of those came out to be normal. Her mother noticed that she was slipping from lap sometimes and feels very loose. Finally she was able to hold her neck for few seconds by 1 year of age. She was taken to another doctor this time and was reassured. By this time caregivers also noticed some facial problem as she did not resemble any of her parent.

She was not gaining weight also. By her 2 nd birthday they went to a doctor and fund she has problem in hearing and was given a hearing aid in both year. By then she can sit with support, can transfer object from one hand to other and produce some cooing sound and play with some bright toys. She undergone some physiotherapy and the limpness decreased over time.

Now she can stand on her own and walk few steps with support, can utter few monosyllables, can eat a biscuit, afraid of strangers. She takes feed well but prefers semisolid food, sleeps well. No problem with bladder, bowel. She can sometimes signs about micturition. Her mother takes good care of her.

No h/o seizure, drooling of saliva, frequent cough during feeding (so, its not CP)
No h/o birth trauma, delayed cry, NICU stay, no postnatal complication other than difficulty in breast feeding (not HIE, kernicterus, infection)
No h/o constipation(not hypothyroidism)
No h/o loss of attained milestones(not degenerative)
No h/o similar problem in family(does not rule out genetic disease)
Functional disability and impact of the disease on family is a MUST MENTION

H/O PAST ILLNESS: Mention if relevant

PRENATAL, INTRANATAL, POSTNATAL HISTORY is very very important in this case

TAKE DETAILED HISTORY

· Age of parents at conception
· Any previous abortion or stillbirth
· Peri conceptional folic acid
· Diagnosis of pregnancy when?
· All trimester any complication fever, bleeding?
· Routine blood test, USG, medication if any?
· Anomaly scan done or not?
· Quickening felt at what time?
· Adequate fetal movements felt?
· Mode of delivery? Any instrumentation?
· Fever around delivery?
· First feeding when? Any prelacteal feed? Any dysmorphic look? Oedema?
· What feeding difficulty? Coordination problem of suckling swallowing.
· Movement of all 4 limbs after birth
· NICU stay?
· Neonatal vistits, vaccines

NUTRITIONAL:

Baby was not gaining weight. Full 24 hour recall with calorie and protein deficit to be calculated. Remember a child with genetic disease can have very less weight even with adequate nutritional intake.

DEVELOPMENTAL HISTORY:

Already discussed. DQ can be calculated from history but better to comment after examining. Coz many times parents are in neglect and they give exaggerated history of developmental achievements.

IMMUNIZATION HISTORY:

FAMILY HISTORY:

3 generation pedigree. Consanguinity to be proved.
H/O similar problem in family, any congenital disease

SOCIO ECONOMIC HISTORY:

socio economic status of father, Monthly expenses for the child, attitude of caregiver

TREATMENT HISTORY:

Mention types of physiotherapy is being given, speech therapy.

SUMMARIZING FROM 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 may be a case of congenital disease or syndrome.

EXAMINATION:

OPENING REMARK:
First impression of the child if looks dysmorphic, hypotonic, posture

GENERAL EXAMINATION:

ANTHROPOMETRY:

Ht, Wt, HC with charts (enquire if any previous record), MUAC

VITALS:
PICCLE

HEAD TO TOE: Mention all the congenital anomalies if any like Down’s Syndrome, hypothyroidism or other

DQ:
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)

NEUROLOGICAL EXAMINATION:
Mostly observation in this case

HIGHER FUNCTION: Alert, active, oriented to self, whether taking interest in surrounding.

CRANIAL NERVE: no apparent cranial nerve palsy

MOTOR SYSTEM: 

image

SENSORY SYSTEM: Response to touch and pain. Detailed examination could not be done.

CEREBELLAR SIGN: could not be tested

CRANIUM n SPINE: Microcephaly, macrocephaly, sutures, scoliosis, kyphosis

OTHER SYSTEM:
RS:  N
CVS:  N, NO murmur
ABDOMEN:  Organomegaly goes in favor of some storage disorder

SUMMARY: Prepare own way to summarize a case

FINAL DIAGNOSIS: 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 functional disability of …(degree) without apparent skeletal abnormality or other major system involvement, most probably a case of inherited genetic disease/ syndromic.


Mandira's Previous post here

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