tiArA d tanah Zea yg Baru

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,