prepare yourself for a shock

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Hi dear,

I know it is the onset of the winter.

And I'm way off from tiArA's life way too long.

Everything happens for a reason.

But i know my 'apologia' of tests and assignments in 5 weeks in a row before study week are not acceptable.



Here comes.

Prepare yourself for a shock.

I have this problem in differentiating those chromosomal syndrome

and genetic syndrome(basically with their phenotype and communication).

I'm preparing for next friday communication disorder test.

And what I think is..

post it on the tiArA's life will be nice to help me differentiating and memorizing them~



Help me get through.

Let's do it together ok?



Chromosomal Syndrome

1. Down Syndrome (Trisomy 21)

Phenotype



  • Intelectual Disability

  • Heart Anomalies

  • Dry Skin and Soft Hair

  • Hypotonia (low muscle tone)

  • Protruding tongue (due to hypotonia)

  • Brachycephaly

  • Malocclusion

Communication



  • General Language Delay

  • Speech Misarticulation

  • Normal Hearing

2. Cri DU Chat Syndrome


Phenotype



  • Small size of baby

  • Microcephaly

  • High Palate (maybe Cleft Palate)

  • Mental Disability

  • Normal life expectancy

  • Chronic Otitis Media

  • Hypertolerism(space between eyes)

  • Ptosis(epicanthic fold is not well developed)

  • Delayed Motor Development

Communication



  • Oral speech seldom develops

  • Severe language disorder

  • Possible hypernasality

  • Possible hearing loss

  • Tend to be loving and very social


Genetic Syndrome


1. Cruozon Syndrome


Phenotype



  • Premature fusion of cranial sutures

  • Midface hypoplasia(underdeveloped)

  • Beak-shaped nose

  • Exorbitism(bulging eyes)

  • Low-set ears

  • Class 3 malocclusion

  • Mental disability is rare

  • Possible Otitis Media

Communication



  • Normal onset of speech and language

  • Possible Otitis Media leading to hearing loss

  • Hyponasility(due to small nasal port)

  • Articulation disorder resulting from Class 3 Malocclusion

2. Foetal Alcohol Syndrome (FAS)


Phenotype



  • Below height and weight

  • Thin upper lips

  • No philtrum

  • Short, upturned nose

  • Shortened (and bent) little finger

  • Hyperactivity

  • Cognitive Impairment

  • Poor fine, gross motor coordination

  • Microcephaly(small head)

  • Micrognatia(small jaw)

Communication



  • General delay in communication development

  • Articulation problem due to poor motor coordination

  • Language delay due to possible intelectual impairments

  • Possible swallowing difficulties

  • Possible Otitis Media

Okay folks. Finish already.


I think I'm feeling much better. Thanks a lot,

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