TUTORIAL SKENARIO C BLOK 9

James (45 years old) and Mary (40 years old) had five clidren. Their first son, Jhon(10 years old) had
marked speech delay andwas eventually diagnosed as intellectual disability. Their second child was a
daughter, Lynn (9 years old) who was perfectly fine. Their third child, Jeremy (7 years old) also had
major speech difficulties and was also diagnosed as intellectual disability. Their fourth child, Peter (6
years old) was born barely 10 month after their third child. He,too, had marked speech delay,was late
in walking (20 months), was subject to severe tantrumps,was hyperactive, flapped his hands
frequently , and was thought to have autistic behavior. Their fifth child, Rose (3 years old) seemed
generally okay but had considerable learning difficulties, especially in mathematics. Mary had left
school in the 10th grade, and James worked in construction.Mary had two brother s with mental
retardation of unknown cause.One of her two sisters had no children since her periods stopprd
when she was 32. Marys one maternal uncle, was thought to have developed Parkinsons disease
when he was 52.james had only one sibling, a brother, who also had mild mental retardation, cause
unknown. Their pediatriciannoted that Peters headwasrather large (in the90th percentile), and
thathe had large, prominent ears, a prominent forehad and jaw with along face, and obvius intellectual
deficits, which included poor speech and autistic behavior. He immediately suspecteda diagnosis of
the Fragile X syndrome.

KLARIFIKASI ISTILAH

Marked speech delay

Intellectual disability : sebuah keterbelakangan mental ditandai dengan kecerdasan dibawah rata-
rata atau kemampuan mental dan kurangnya keterampilan yang diperlukan untuk hidup sehari-hari
(webmed.com)

Major speech difficulties

Severe tantrums : kemarahan yang hebat

Hyperactive: peningkatan berlebihan atau abnormal aktifitas

Flapped his hands frequently

Autistic bahavior : gejala autis

Mental retardation

Prominent forehad : dahi yang menonjol

Prominent ears : telinga memanjang

Prominent jaw : dagu yang lancip

Fragile X syndrome : suatu sindroma terkait kromosom X ditandai dengan retardasi mental, testis
membesar, dahi tinggi, rahang dan telinga membesar, disebagian besar laki-laki dan retardasi ringan
pada sebagian besar wanita pada heterozigot

Parkinsons disease
ANALISIS MASALAH

1. Their first son, John (10 years old) had marked speech delay and was eventually diagnosed as
intellectual disability.
A) Apa yang menyebabkan dia mengalami spech delay ?
B) Bagaimana kriteria seorang anak dapat dikatakan speech delay ?
C) Apa yang menyebabkan dia intellectual disability ?
D) Bagaimana kriteria seseorang bisa dikatakan intellectual disabbility ?
E) Bagaimana hubungan jenis kelamin dengan kasus ?

2. Their second child was a daughter, Lynn (9 years old) who was perfectly fine.
a) Kenapa Lynn tidak mengalami keluhan yang sama dengan saudara nya ?

3. Their third child, Jeremy (7 years old) also had major speech difficulties and was also
diagnosed as intellectual disability.
a) Apa penyebab Jeremy mengalami major speech difficulties?
b) Apa saja tipe gangguan berbicara secara umum ?

4. Their fourth child, Peter (6 years old) was born barely 10 month after their third child. He,too,
had marked speech delay,was late in walking (20 months), was subject to severe tantrums,was
hyperactive, flapped his hands frequently , and was thought to have autistic behavior.
a) Bagaimana hubungan antara jarak kelahiran anak dengan tingkat keparahan penyakit
pada kasus ?
b) Berapa usia normal seorang anak dapat berjalan ?
c) Bagaimana kriteria severe tantrums dan penyebabnya ?
d) Bagaimana kriteria flapped his hands frequently dan penyebabnya?
e) Bagaimana kriteria hyperactive dan penyebabnya ?
f) Bagaimana ciri-ciri autistic behavior dan penyebabnya ?
5. Their fifth child, Rose (3 years old) seemed generally okay but had considerable learning
difficulties, especially in mathematics.
a) Kenapa Rose memiliki masalah pembelajaran terutama matematika ? (kenapa to
b) Kenapa Rose mengalami masalah ini, sedangkan Lynn tidak mengalaminya ?

6. Mary had left school in the 10th grade, and James worked in construction.
a) Bagaimana interpretasi dari masalah diatas ?
b) Apa penyebab masalah diatas yang berhubungan dengan skenario ? (kesulitan belajar)

7. Mary had two brothers with mental retardation of unknown cause.One of her two sisters
had no children since her periods stopprd when she was 32. Marys one maternal uncle, was
thought to have developed Parkinsons disease when he was 52.
a) Apa yang menyebabkan saudari Mery mengalami menopouse dini ? (usia normal)
b) Apa yang menyebabkan mental retardation ?
c) Apa yang penyebab Parkinsons disease ? (faktor resiko)
d) Apa ciri-ciri Parkinsons disease ?

8. James had only one sibling, a brother, who also had mild mental retardation, cause unknown.
a) Apa saja tipe mental retardation ?

9. Their pediatrician noted that Peters head was rather large (in the 90th percentile), and that
he had large, prominent ears, a prominent forehead and jaw with along face, and obvious
intellectual deficits, which included poor speech and autistic behavior.
a) Bagaimana bentuk prominent yang dialami oleh Peter ? (ciri2, gejala, )

10. He immediately suspecteda diagnosis of the Fragile X syndrome ***

a) Apa itu Fragile X syndrome ?
b) Bagaimana epidemiologi dari Fragile X syndrome ?
c) Bagaimana gejala klinis dari Fragile X syndrome ?
d) Bagaimana patogenesis Fragile X syndrome ?
e) Bagaimana cara mendiagnosis Fragile X syndrome ?
f) Bagaimana tatalaksana dari Fragile X syndrome ?
g) Bagaimana KIE untuk Fragile X syndrome ?
h) Bagaimana prognosis dari Fragile X syndrome ?