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Ahmad, aged 5 years, commenced school 6 months ago. His mother, Sarah, brings him today  because he has been having problems at school. She tells you that his teacher has noticed he is inattentive in the classroom and appears to be unable to sit still. He is easily distracted and on occasions, the teacher said, appears to be daydreaming.

What other information would you like to know in this case?

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Farhana, good! I hope i can get the whole info by tonight!
Lim,
You have cover quite a number of diff dx: Autism n learning disabilities. Perhaps there are some other diagnoses that you want to include.

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Diff dx
1) adhd
2) autism
3) learning disabilities - possible sec to hearing problem or visual problem or no early exposure to proper learning
4) sequels/ complication of previous medical problem/ premature baby/ infection/ congenital disease - from mother medical problem
5) physical disability -acquired or congenital or trauma during any part of the life
6) IEM

Further hx that i would like to ask:
1) HOPI
- how is the child behaviour at home, does it tally with hx given by the teacher? If its the same, since when does the mother notice it?
- how is the child interaction with the parents - eye contact when in conversation, obeying instructions, doing chores or assign activities at home,
- can he engage in one activities when playing or studying? Does he get easily bored?
- since he is 5 years old, can he do his own basic chores - for exa:  wear and take off clothes by himself, take bath and using toilet, eating and cleaning his own dishes etc.
- does the Child has any peculiar behavior before this such as repetitive movement - clapping hand without any reason, like to line up toys in one straight line etc ?
- how is the interaction of the child with other kids/ siblings ( if have any ) at school/ home/ neighbours /relative?
- can the child play with other children / siblings? Can he share his toys/ things with others
- does d child attend any kindergarten before and how he was at that previous place?
- does the child been aggressive to other children or to the parents?
- does the child always throwing tantrums not in a usual way? How long does it takes?
- how are the other siblings ( if have any )? Do they have d same problem?
- any trauma or fall previously?
- any evidence of unexplained bruises or injury - tro abuse

passmedical or surgical hx
- any previous prolonged hospitalization, intubation or ICU admission -- severity of illness at that time
( probable complication of the illness at that time )
- immunization hx - can relate to above hospitalization any complication of disease

birth hx
Antenatally mother - any acquired infection
( rubella, measles, cmv, toxo, syphilis etc ), hypothyroidism
complication during delivery - trauma or hypoxia --> HIE
Whether child born premature or term - any complication during neonatal period if premature - complication such as ROP, hearing disability, developmental delay detected durinh follow up peads

family history
Any other family members with same problem or delay development
Any hereditary or genetic disease - muscular dystrophy, down syndrome etc
Other genetic dis - william's, noonan, turner etc

Developmental hx
- when does d mother notice the delay developemnt or before this patient's developemnt was normal
- its an isolated component of delay dev or combination of two
- further need to test during developmental assessment of the child
Mother can fill the M chart to help with the diagnosis

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Regarding the chief complaint, I would like to know further detail to confirm whether the child has learning disabilities or other organic causes.
- use M- chat to screen for any possibility of autism, if yes, further confirm with DSM-IV form for confirm the diagnosis of autism

- is the child has any abusive behaviour in school?
- how long can the child sit still or focus on teaching?
- can the child obey command at school?
- how is the child behave as home? Same as school?
- any parental teaching at home? If yes, can the child learn from the parents, what he can read, write, draw, count, sing

I would like to get further history associated with learning disabilities, which include:
1. Antenatal history: history of prematurity; antenatal illness or infection including rubella, CMV, toxoplasmosis, herpes simplex, and syphilis; (underlying infection can cause congenital microcephaly)
2. Post partum / intrapartum history:
- birth injury such as hypoxic ischaemic encephalopathy,
- requirement of NICU admission, ventilation, prolonged oxygen therapy (hearing impairment can lead to learning difficulties; retinopathy of prematurity can cause vision problem then further lead to learning difficulties)

3. Developmental milestones:
- does the mother notice any developmental delay before: when it start? Which component involved? Is it generalised delay on development or certain component such as social or speech component
--> the age of the start of developmental delay can give clues of what of the causes
--> it is important to know the components of development affected because it lead to the cause and the further management
--> hearing impairment is common cause of learning disabilities
--> global developmental delay may be due to mental retardation, inborn error of metabolism, or syndromic child or genetic causes

4. Any past medical history after birth?
- suspicious of genetic disease or Down's syndrome
- congenital hypothyroidism
(Any history of maternal thyroid disease?)
5. Any history of brain trauma/ fall?
6. Any family history of developmental delay or learning disabilities such as autism, dyslexia, ADHD or mental retardation
7. Social history
- who is the care taker?
- diet history which can suggest of nutritional deficiencies
- rule out any child abuse

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differential diagnosis:
1. Autism spectrum disorder
2. ADHD
3. Dyslexia
4. Hearing impairment, vision impairment
5. Mental retardation
5. Syndromic child including Down's syndrome, William syndrome, fragile X syndrome, etc.
6. Neurological disease such traumatic brain injury, central nervous system infection, vascular injury
7. Inborn error of metabolism
8. Psychiatric problem including child abuse, depression, low self esteem, poor self image
9. Congenital hypothyroidism
10. Inadequate of early exposure of learning, inadequate instruction pretending and reading skills
11. Toxin such as fetal alcohol exposure, lead poisoning

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Great guys!! You all have list out almost all the differential diagnosis. Your history taking is also almost complete!!

Basically you can divide the problem into 4 broad categories:

1. Physical health

- visual or hearing impairment

- delayed motor or oromotor skill

- genetic disorders

- chronic illness e.g. asthma, cardiac, renal or neurological disorder

- disturbed sleep

2. Social & emotional development (delayed & disturbed)

- separation anxiety

- disruptive behaviour

3. Language problem - speech & listening/literacy skill

4. Cognition - developmental delay/intellectual disability

So, your history taking should cover all this diagnoses

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How would you assess Ahmad?

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I would like to know Ahmad's height and weight - need to plot on the growth chart, need information about the previous ht and wt during follow up

General inspection
Any dysmorphism, abnormality of the upper limb or lower limb, abnormal posture, any repetitive movement, interaction between the mother and the child, the child behaviour in the room, Any bruises or scars noted over the child.
I would think of the genetic disorder, features of down's, features of autism or adhd, evidence of abuse or trauma.

From general inspection, we can also do  the developmental assessment to see how is other major component of the development
Can patient follow instruction by mother or doctor, does he has a good eye contact, does he listen and turn  to his mother when talking ? Can he sit still playing with toys? Can he interact with other people
How does he play with the toys given? Is there any specific pattern that he shows - for exa lining up toys?,observe how long can he engaged in playing or learning ?
The way he hold a pencils, or toys then obs the way he write..
there is a proper assessment in learning disability - contain spelling, writing alphabet, copying objects, match picture, describe picture, memorization, copy dots picture, counting

Examination of the peripheries
Whether pt is pink or pale, presence of jaundice,
Central cyanosis, any muscle wasting or deformity of the upper limb or lower limb.
Cardiovascular exam: hyperactive precordium, Cardiomegaly,  murmur presence - can be a complication of down's, no sternostomy scar noted
Resp examination: any sign of chronic lung disease, harrison sulcus, coarse crepitation, wheezing.
Abdomen: hepatosplenomegaly or hepatomegaly only
Neurological exam: any neurological deficit - power, reflexes, gait, cranial nerves.

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Excellent guys!
Don't forget to measure the head circumference as well
Assess the hearing and vision are also important
And please observe the patient's mood

Both of you did mention dysmorphic features; what type of dysmorphic features would alert you to a possible genetic problems?

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Specific dysmorphic features:

1. Down syndrome
- upslanting eyes
- depressed nasal bridge
- low set ears
- protruding tongue
- short webbed neck
- incurved little finger
- simian plamar crease
- sandal gap

2. Fragile X syndrome
- long face
- large ears
- prominent jaw
- macroorchism

3. Prader Willi syndrome
- obesity
- small hands and feet

- full cheeck
- strabismus

4. Angelman syndrome
- depressed occiput
- excessive laughter
- protruding tongue
- hypotonia

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Down syndrome features

Decreased or poor muscle tone

Short neck, with excess skin at the back of the neck

Flattened facial profile and nose

Small head, ears, and mouth

Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye

White spots on the colored part of the eye (called Brushfield spots)

Wide, short hands with short fingers

A single, deep, crease across the palm of the hand

A deep groove between the first and second toes

Prader willis

Obese but smaller than other similar child of the same age

They may have small hands and feet and a curvature of the back, called scoliosis  strabismus

William syndrome

specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips

inward bend of pinky finger

short stature

sunken chest

farsightedness

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On examination,
- vital signs
- growth chart
- look for any dysmorphic features.
- eye contact
- can the child obey simple commands from parents or doctors
- is there any abnormal behaviour or tics
- assess any hyperactivity and inattentive
- is the child shy? Stranger anxiety?
- any clues for NAI eg multiple different stages of bruises, bite marks, burn marks

- assess the development milestone including gross motor, fine motor, speech and social skills.
--> the child should be able to walk tip toe, jump, hop, squat, climbs, stand with one feet for more than 10 seconds
--> assess the child's writing and drawing. What he can write eg. Alphabet, numbers..
Draw line, circle, rectangular, triangle and diamond
--> if the child can draw, can assess the draw man test to assess the mental age
--> assess the speech in between parents and the child. Is there one way or two way communication? Obey commands? How many words he can speak? Can he speak in full sentences?
--> assess the interaction in between parents and child. Is the child attaches with the parents or scare of them? Is the child willing to share? can the child shows his love to his parents like hugging?

Perform neurological examination
- look for any neurological stigmata such as cafe-au-lait
- tone, power, reflexes
- spinal deformity

Other systemic examination including cardio, respi, abdomen to look for any other underlying medical disease.

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Well done guys! You all have covered a lot for the dysmorphic features. y next question: What investigations would you request?

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Developmental delay/learning disabilities at this age the test should be a targeted test depending on clinical features, clinical history and examination.
Most of the diagnosis could be achieved with history and clinical examination.

Basic investigation that can be done such as
TFT. More specific one could be genetic testing directing towards the suspected diagnosis itself - chromosome testing for down's, fragile x, prader willi etc.

For autism - there is a screening M chart and DSM V , ADHD - based on DSM V diagnostic criteria.

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Investigation:
Depends on the clinical provisional diagnosis. If suspected autism, can screen with M-chat and DSM IV for autistic spectrum disorder. Once confirmed diagnosis with the screening chart, other investigation are carried if necessary.
If ADHD also screening with DSM-IV IV.

If clinical suspected hypothyroidism, Thyroid function test must be done with screening test with TSH first.

If the child has speech delayment or global developmental delay, the child need to screening for hearing assessment and speech therapy.

If there are any features suggestive of syndromic child, chromosomal study might need to carry out.
Screening for inborn error of metabolism should be carried out also if clinically suggestive.

Routine blood is not necessary unless there is underlying or suspected medical illness such as iron deficiency anemia.

If suspected neurological disorder, might need to proceed MRI brain.

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My dear students,

You all have covered most of the investigations. However, you have to remember that all patients that have behavioural problem OR learning difficulty need to undergo several investigations -- vision & hearing assessment.

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Who would you refer Ahmad to?

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Management
1. If the child is diagnose is diagnosed with ADHD, then I will refer the child to paediatric, he may be benefit with medication (psychostimulation). Besides that, I will refer him for behavioural therapy also.
2. If there is any psychological causes, then the child need to be refer to psychiatrist.
3. If the child was suspected to have mental retardation, then he need to be assess for IQ test.
4. If there is any genetic disorder or OEM, then child need to be refer to paediatric.
5. If the child is normal and the learning difficulties is due to lack of exposure, then the child need to send to special class.
6. If the child has dyslexia, then the child will need to send to special school that specific teach dyslexia children.

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Management
I would like to refer the patient to pediatrician for autism, adhd, suspected genetic disorder or IEM.
If patient has learning difficulities ( reading, writing, counting ) or dyslexia, patient needs a special school - preschool. A referral to occupational therapist also required if problem with writing, fine motor so that they can help in training. Speech therapists intervention probably needed in patient with delayed speech or pronounciation problem..