Clinical case 4 Survey

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* 1. Name

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* 2. Email (use your work email)

INSTRUCTIONS.
Read Case 4: A 2-year-old boy with hypotonia, speech delay and poor sleep.

Pregnancy, birth, and delivery histories were unremarkable. His parents reported that he slept well during infancy, often having to be awakened to feed and was a "messy eater" with trouble sucking. At one year of age, his motor development was delayed, but his social skills appeared normal, and he was saying three single words. He then stopped progressing. His sleep became erratic, often awakening from 3-5 am daily, which was stressful for the family. At 2 years old, he was still not walking and was seen by a neurologist.
On examination at 2 years, his head circumference was 49.5 cm (75th percentile). Mild dysmorphic features including a flat occiput and flat midface were noted. Speech was delayed and he had a coarse voice. Eye movements were normal. He had oral motor delays and truncal hypotonia. He had many stereotypies such as licking his finger when turning the page of a book, a self-hug when he was excited and toe walking. Tremor was noted with fine motor tasks.

A. Get started as you did before.

D. Resuming from where you left off
The software enables you to save the patient data to be used later by you or by a colleague. Choose from 2 formats:

1. Computable Patient Summary Text String:

Save. Go to Report/Computable Patient Summary only and copy the text string to your computer or email it to yourself. (Note that SimulConsult’s EMR-integrated version does this automatically.).
Load. Copy the string, go to Load on the black navigation bar, and paste it into the box under "computable patient summary text string". Click the Load button.

2. PDF Patient Summary:

Save. Go to Report/Patient Summary PDF file and save the PDF.
Load. Import the PDF to Load/PDF file from the black navigation bar.

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* 3. Choose diagnoses. Record your impression of the differential diagnosis (using or ignoring the software results as you deem appropriate) by ranking at least 1 and up to 3 diagnoses from the list provided. You get the most credit for having the correct diagnosis as rank #1, but you also get some credit for having it in other positions. (One selection allowed per column)

	Rank 1	Rank 2	Rank 3
Angelman syndrome	Angelman syndrome Rank 1	Angelman syndrome Rank 2	Angelman syndrome Rank 3
Cerebral creatine deficiency syndrome	Cerebral creatine deficiency syndrome Rank 1	Cerebral creatine deficiency syndrome Rank 2	Cerebral creatine deficiency syndrome Rank 3
CHARGE syndrome	CHARGE syndrome Rank 1	CHARGE syndrome Rank 2	CHARGE syndrome Rank 3
Dubowitz spinal muscular atrophy, infantile chronic form	Dubowitz spinal muscular atrophy, infantile chronic form Rank 1	Dubowitz spinal muscular atrophy, infantile chronic form Rank 2	Dubowitz spinal muscular atrophy, infantile chronic form Rank 3
Familial developmental dysphasia	Familial developmental dysphasia Rank 1	Familial developmental dysphasia Rank 2	Familial developmental dysphasia Rank 3
Fetal alcohol syndrome	Fetal alcohol syndrome Rank 1	Fetal alcohol syndrome Rank 2	Fetal alcohol syndrome Rank 3
GLUT1 deficiency syndrome	GLUT1 deficiency syndrome Rank 1	GLUT1 deficiency syndrome Rank 2	GLUT1 deficiency syndrome Rank 3
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome Rank 1	Hennekam lymphangiectasia-lymphedema syndrome Rank 2	Hennekam lymphangiectasia-lymphedema syndrome Rank 3
HLD1: Pelizaeus-Merzbacher disease, classic	HLD1: Pelizaeus-Merzbacher disease, classic Rank 1	HLD1: Pelizaeus-Merzbacher disease, classic Rank 2	HLD1: Pelizaeus-Merzbacher disease, classic Rank 3
HLD5: hypomyelination and congenital cataracts	HLD5: hypomyelination and congenital cataracts Rank 1	HLD5: hypomyelination and congenital cataracts Rank 2	HLD5: hypomyelination and congenital cataracts Rank 3
HLD6: hypomyelinating leukodystrophy, TUBB4A -related	HLD6: hypomyelinating leukodystrophy, TUBB4A -related Rank 1	HLD6: hypomyelinating leukodystrophy, TUBB4A -related Rank 2	HLD6: hypomyelinating leukodystrophy, TUBB4A -related Rank 3
L2HGA: L-2-hydroxyglutaric aciduria	L2HGA: L-2-hydroxyglutaric aciduria Rank 1	L2HGA: L-2-hydroxyglutaric aciduria Rank 2	L2HGA: L-2-hydroxyglutaric aciduria Rank 3
Lowe oculocerebrorenal syndrome	Lowe oculocerebrorenal syndrome Rank 1	Lowe oculocerebrorenal syndrome Rank 2	Lowe oculocerebrorenal syndrome Rank 3
Metachromatic leukodystrophy	Metachromatic leukodystrophy Rank 1	Metachromatic leukodystrophy Rank 2	Metachromatic leukodystrophy Rank 3
Mucolipidosis IV	Mucolipidosis IV Rank 1	Mucolipidosis IV Rank 2	Mucolipidosis IV Rank 3
Neuronal ceroid lipofuscinosis	Neuronal ceroid lipofuscinosis Rank 1	Neuronal ceroid lipofuscinosis Rank 2	Neuronal ceroid lipofuscinosis Rank 3
Polymicrogyria, bilateral perisylvian, X-linked	Polymicrogyria, bilateral perisylvian, X-linked Rank 1	Polymicrogyria, bilateral perisylvian, X-linked Rank 2	Polymicrogyria, bilateral perisylvian, X-linked Rank 3
Prader-Willi syndrome	Prader-Willi syndrome Rank 1	Prader-Willi syndrome Rank 2	Prader-Willi syndrome Rank 3
Robinow-Sorauf syndrome	Robinow-Sorauf syndrome Rank 1	Robinow-Sorauf syndrome Rank 2	Robinow-Sorauf syndrome Rank 3
Short sleeper, BHLHE41-related	Short sleeper, BHLHE41-related Rank 1	Short sleeper, BHLHE41-related Rank 2	Short sleeper, BHLHE41-related Rank 3
Smith-Magenis syndrome	Smith-Magenis syndrome Rank 1	Smith-Magenis syndrome Rank 2	Smith-Magenis syndrome Rank 3
Spastic ataxia with hypomyelinating leukodystrophy	Spastic ataxia with hypomyelinating leukodystrophy Rank 1	Spastic ataxia with hypomyelinating leukodystrophy Rank 2	Spastic ataxia with hypomyelinating leukodystrophy Rank 3
Trisomy 21 (Down syndrome)	Trisomy 21 (Down syndrome) Rank 1	Trisomy 21 (Down syndrome) Rank 2	Trisomy 21 (Down syndrome) Rank 3

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* 4. Go to the Share icon (the square with the in-out arrow) on the SimulConsult black navigation bar. Select and copy/paste the Computable Patient Summary text string .

Clinical case 4

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* 1. Name

Question Title

* 2. Email (use your work email)

Question Title

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* 4. Go to the Share icon (the square with the in-out arrow) on the SimulConsult black navigation bar. Select and copy/paste the Computable Patient Summary text string .

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* 5. Any comments?