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Skenario B Blok 4

James (45 years old) and Mary (40 years old) had five children. Their first son, john (10 years
old) had marked speech delay and was 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 10months 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.
Their fifth child, Rose ( 3 years old) had considerable learning difficulties, especially in
mathematics. Mary had left school in the 10th grade, and James worked in construction.
Mary had two brothers with mental retardation of unknown cause. One of her two sisters
had no children since her periods stopped when she was 32. Marys one maternal uncle, was
thought to have developed Perkinsons disease when he was 52. James had only one sibling,
a brother, who also had mild mental retardation , cause unknown. 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 a long face, and obvious intellectual deficits, which
included poor speech and autistic behavior. He immediately suspected a diagnosis of the
Fragile X syndrome.
I. Klarifikasi Istilah

1. Parkinson : Kelompok kelainan neurologis yang ditandai oleh hipokinesia, tremor,


rigiditas (Kamus Dorland, ed. 28 )
2. Autis: Keadaan yang di dominasi oleh pikiran atau perilaku yang bersifat subjektif,
yang tidak dapat dikoreksi oleh informasi dari luar (Kamus Dorland, ed. 25)
3. Perilaku autistic : Terganggu jika berhubungan dengan orang lain (KBBI)
4. Syndrome Fragile X: Suatu kelainan pada kromosom X pada seseorang yang ditandai
dengan karakteristik elongasi ketika sel-sel dikembangkan di medium yang
kekurangan folht (Buku Catatan Biokimia di US terbitan Kaplan)
5. Hiperaktif : Situasi dimana jaringan tubuh cenderung bereaksi berlebihan terhadap
situasi tertentu (Kamus Kesehatan.com)
6. Keterbelakangan Mental : Penurunan fungsi intelektual (kelainan intelektual) yang
menyeluruh secara bermakna dan secara langsung menyebabkan gangguan adaptasi
sosial dan bermanifestasi selama masa perkembangan (Artikel Sari Pediatri vol.2 no.3
desember 2000)
7. Dokter Anak : Dokter yang mempelajari perkembangan, perawatan serta sifat dan
pengobatan penyakit anak (Kamus Dorland, ed. 28)
8. Emosional : Dengan luapan perasaan yang berkembang dan surut dalam waktu
singkat (KBBI)
II. Identifikasi Masalah

Masalah E-O Concern


Their first son, john (10years old) had marked speech delay and V
was eventually diagnosed as intellectual disability.
Their third child, Jeremy (7 years old) also had major speech V
difficulties and was also diagnosed as intellectual disability.
Their fourth child, Peter (6 years old) was born barely 10months V
after their third child.
Peter had marked speech delay, was late in walking (20 months), V
was subject to severe tantrums, was hyperactive, flapped his hands
frequently, and was thought to have autistic behavior.
Their fifth child, Rose (3 years old) had considerable learning V
difficulties, especially in mathematics.
Mary had left school in the 10th grade and had two brothers with V
mental retardation of unknown cause.
One of her two sisters had no children since her periods stopped V
when she was 32.
Marys one maternal uncle, was thought to have developed V
Perkinsons disease when he was 52.
James had only one sibling, a brother, who also had mild mental V
retardation , cause unknown.
Pediatrician noted that Peters head was rather large (in the 90th V
percentile), and that he had large, prominent ears, a prominent
forehead and jaw with a long face, and obvious intellectual deficits,
which included poor speech and autistic behavior. He immediately
suspected a diagnosis of the Fragile X syndrome.
Empat dari lima anak James dan Mary mengalami ketidaknormalan VVV
dalam tumbuh dan kembangnya
Keluarga James dan Mary memiliki riwayat kelainan genetic dan VV
beberapa jenis penyakit lainnya
III. Analisis Masalah
1. Their first son, john (10 years old) had marked speech delay and was eventually
diagnosed as intellectual disability.
a. Apa penyebab dari keterlambatan bicara?
b. Berapa usia normal anak mulai berbicara?
c. Apa penyebab dari kelainan intelektual?
d. Apakah bentuk-bentuk kelainan intelektual?
e. Apa hubungan keterlambatan berbicara dan kelainan intelektual?
f. Apa akibat dari keterlambatan bicara?
g. Apa akibat dari kelainan intelektual?

2. Their third child, Jeremy (7 years old) also had major speech difficulties and was
also diagnosed as intellectual disability.
a. Apa penyebab kesulitan berbicara?
b. Apakah bentuk-bentuk kesulitan berbicara?
c. Apa akibat dari kesulitan berbicara?
3. Their fourth child, Peter ( 6 years old) was born barely 10months after their
third child.
a. Apa hubungan jarak waktu kelahiran dengan pertumbuhan dan perkembangan
bayi yang dilahirkan?
b. Berapa rentang waktu kehamilan pasca kelahiran terakhir?
4. Peter 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. Apa penyebab kelainan yang dialami Peter?
b. Berapakah umur normal anak untuk belajar berjalan ?
c. Apakah bentuk-bentuk perilaku autistic?
5. Their fifth child, Rose ( 3 years old) had considerable learning difficulties,
especially in mathematics.
a. Apa hubungan Fragile X syndrome dengan jenis kelamin?
6. Mary had left school in the 10th grade and had two brothers with mental
retardation of unknown cause.
a. Apa hubungan keadaan Ny. Marry dengan kedua saudaranya yang memiliki
kelainan mental retardasi?
7. One of her two sisters had no children since her periods stopped when she was
32.
a. Termasuk jenis kelainan genetik apakah kasus yang dialami oleh kedua
saudari Marry?
Jawab:
b. Berapa usia normal menopause ?
Jawab:
c. Apakah hubungan waktu menopause yang lebih cepat dengan kelainan genetik
yang dialami keluarga Marry?
Jawab:
8. Marys one maternal uncle, was thought to have developed Perkinsons disease
when he was 52.
a. Apa penyebab penyakit Parkinson?
Jawab:

b. Apa hubungan penyakit Parkinson dengan kelainan genetik yang dialami


keluarga Marry?
Jawab:

9. James had only one sibling, a brother, who also had mild mental retardation ,
cause unknown.
a. Apa hubungan mental retardasi keluarga James dan Marry dengan kelainan
anak mereka?
Jawab:

b. Apa peran konseling genetika dalam menyelesaikan permasalahan ini?


Jawab:

10. 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 a long
face, and obvious intellectual deficits, which included poor speech and autistic
behavior. He immediately suspected a diagnosis of the Fragile X syndrome.
a. Apa penyebab dari fragile X syndrome?
Jawab:

b. Apa hubungan fragile X syndrome terhadap kelainan fenotipe yang dialami?


Jawab:

c. Bagaimana upaya preventif terhadap fragile X syndrome?


Jawab:

d. Bagaimana pola pewarisan fragile X syndrome?


Jawab:

e. Apa saja tingkatan mutasi pada fragile X syndrome?


Jawab:

f. Apa saja jenis pemeriksaan yang perlu dilakukan untuk menegakkan diagnose
fragile X syndrome?
Jawab:
IV. Keterkaitan Antar Masalah

PEDIGREE KELUARGA JAMES DAN MARY

I 1 2 3 4 5

1 2 3 4 5 6 7
II

1 2 3 4 5
III

Keterangan:

I.3. Salah satu paman kandung Mary: Mederita penyakit Parkinson pada umur 52 tahun

II.1. Saudara Laki-Laki James : Memiliki retardasi mental dengan sebab yang tidak diketahui

II.2. James (45 tahun): Menderita Fragile X syndrome

II.3.Mary (40 tahun): Carier dari Fragile X syndrome

II.4. Saudara laki-laki Mary : Memiliki retardasi mental

II.5. Saudara laki-laki Mary : Memiliki retardasi mental

II.6. Saudara perempuan Mary : Memiliki keluhan menopause pada umur 32 tahun

II.7. Saudara perempuan Mary : Normal

III.1. James (10 tahun): Mengalami keterlambatan bicara dan kelainan intelektual

III.2. Lynn (9 tahun): Normal

III.3. Jeremy (7 tahun): Memiliki kesulitan berbicara dan kelainan intelektual

III.4.Peter (6 tahun): Menderita Fragile X syndrome

a. Ukuran kepala lebih besar


b. Telinga besar dan menonjol
c. Dahi kepala menonjol
d. Kelainan intelektual
e. Kesulitan berbicara
f. Keterlambatan berbicara
g. Terlambat berjalan
h. Perilaku austistik (Emosional (kebiasaan mengamuk yang parah); Hiperaktif ;
Sering menepukkan tangan)

III.5. Rose (3 tahun): Memiliki kesulitan belajar terutama matematika

Learning Issues

1. Fragile X Syndrome
2. Mutasi
3. Pedigree
4. Patern of heritance
5. Counseling education