HASIL TUTORIAL DAN BELAJAR MANDIRI

Skenario C Blok 9 Tahun 2017

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 four child, Peter ( 6 years old) was born barely 10
months 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 hand frequently, and
was thought to have autistic behavior. Their fifth child, Rose ( 3 years old) seemed generally
okay but had considerable learning difficulties, especielly in mathematics. Mary had left
school in 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
Parkinsons disease when he was 52. James had only one sibling, a brother, who also had
mild mental retardation, cause unknown. Their pediatricion 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 behaviour. He immediately suspected a diagnosis of the Fragile x syndrome.

I. KLARIFIKASI ISTILAH

No Istilah Pengertian
1. Speech delay Telatnya kemampuan berbicara yang terjadi pada anank
anak ( terapiotak.com)
2. Intellectual Suatu disfungsi atau keterbatasan baik secara intelektual
disability maupun perilaku adaptif yang dapat diukur atau dilihat yang
menimbulkan berkurangnya kapasitas untuk beraksi dalam
cara tertentu. (erepo.unud.ac.id)
3. Major speech Kesulitan mengucapkan suara atau gangguan artikulasi dan
difficulties gagap.(americanspeechlanguanghearing.com)
4. Severe tantrums Kelakuan buruk yang tingkat keparahannya tinggi. (dorland)
5. Hyperactive, Keadaan yang tidak biasa atau aktif secara abnormal.
Peningkatan berlebihan atau abnormal aktivitas fungsi otot
( dorland)
6. Learning Suatu kondisi dimana kompetensi yang dicapai tidak sesuai
difficulties dengan kriteria standar yang ditetapkan (healthline.com)
7. Autistic behavior Suatu kondisi mengenai seseorang sejak lahir ataupun saat
balita yang membuat dirinya tidak dapat memebentuk
 hubungan sosial atau komunikasi yang normal.
(klinikautis.com)
8. Mental retardation Suatu gangguan dimana fungsi intelektual di bawah normal
atau iq dibawah 70. Di mana seseorang mengalami gangguan
perilaku adaptif sosial sehingga membuat penderita
memerlukan pengawasan, perawatan, dan kontrol dari orang
lain. (eprint.ums.ac.id)
9. Parkinsons disease Jenis gangguan gerakan yang terjadi ketika sel saraf di otak
tidak menghasilkan cukup zat kimia otak yang disebut
dopamin.( medlineplus.gov)
10. Mild mental Pengklafisikasian mentar retardation yaitu iq diantara 50 70
retardation ( dorland)
11. Prominent ears Telinga yang menonjol lebih dari 2 cm dari sisi kepala (telinga
caplang). (chop.edu)
12. Prominent forehead Penonjolan pada dahi dan rahang bawah (dorland)
and jaw
13. Fragile x syndrome Kondisi genetik yang menyebabkan gangguan perkembangan
termasuk gangguan belajar dan gangguan kognitif.

II. IDENTIFIKASI MASALAH

No. Masalah Konsen

1. Their first son, John (10 years old) had marked speech
delay and was eventually diagnosed as intellectual
disability. Their third child, Jeremy (7 years old) also VV
had major speech difficulties and was also diagnosed as
intellectual disability.

2. Their fourth child, Peter ( 6 years old) was born barely VVV
10 months 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
hand frequently, and was thought to have autistic
behavior. Their pediatricion 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 behaviour. He
immediately suspected a diagnosis of the Fragile x
 syndrome.

3. Their fifth child, Rose ( 3 years old) seemed generally

okay but had considerable learning difficulties, VV

especielly in mathematics.
4 Mary had left school in 10th grade. 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, V
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.

III. ANALISIS MASALAH

1. Their first son, John (10 years old) had marked speech delay and was eventually
diagnosed as intellectual disability. Their third child, Jeremy (7 years old) also had
major speech difficulties and was also diagnosed as intellectual disability.

a. Apa saja faktor fisiologis yang mempengaruhi kemampuan berbicara pada anak
anak?

b. Apa saja faktor yang berkontribusi pada intelektual disability?

c. Apa hubungan speech delay dengan disabilitas intelektual pada john?

d. Apa hubungan major speech difficulties dan intellectual disability pada jeremy?

e. Pada umur berapakah anak sudah bisa berbicara?

f. Apa saja dampak yang dapat ditimbulkan bila keterlambatan bicara tidak segera
diatasi?

g. Bagaimana cara mengatasi keterlambatan bicara?

h. Apa saja ciri ciri speech delay dan disabilitas intelektual?

i. Mengapa john dan jeremi memiliki keluhan yang sama(pedigree)?

j. Apa saja bentuk bentuk kesulitan berbicara?

k. Bagaimana klasifiksi iq?

2. Their fourth child, Peter ( 6 years old) was born barely 10 months 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 hand frequently, and was
thought to have autistic behavior. Their pediatricion 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 behaviour. He immediately suspected a
diagnosis of the Fragile x syndrome.

a. Bagaimana epidemiologi dari Fragile x syndrome?

b. Apa hubungan jenis kelamin dengan fragile x syndrom ?

c. Bagaimana pattern of inheritance fragile x syndrome? izzah

d. Bagaimana recurrence risk dari fragile x syndrome?

e. Bagaimana patofisiologi dari fragile x syndrome? (aspek biomolekuler/gen) izzah

f. Bagaimana ciri ciri orang yang menderita Fragile x syndrome?

g. Apa yang menyebabkan Peter terlambat berjalan dan berapa usia normal anak bisa
berjalan

h. Berapa jarak waktu ideal untuk setiap kehamilan?

i. Bagaimana cara pemeriksaan fragile x syndrome?

3. Their fifth child, Rose ( 3 years old) seemed generally okay but had considerable
learning difficulties, especielly in mathematics.

a. Mengapa pada rose manisfetasi penyakitnya itu tampak lebih ringan (apakah ada
hubungan dengan x linked inheritance) ?

b. Mengapa kesulitan belajar yang dialami rose terutama pada matematika?

4. Mary had left school in 10th grade. 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 Parkinsons disease when he was 52. James had only one sibling, a
brother, who also had mild mental retardation, cause unknown.
a. Apa penyebab penyakit parkinson?
b. Bagaimana patofisiologi penyakit parkinson?
c. Apa klasifikasi dari mental retardation?
 d. Bagaimana pola penurunan fragile x syndrome dikaitkan dengan riwayat
keluarga(orang tua)?
e. Bagaimana ciri ciri pasien yang menderita penyakit parkinson?
f. Apa saja faktor yang menyebabkan terjadinya mental retardation?
g. Mengapa saudara mary mengalami monopose dini dan tidak punya anak?
h. Bagaimana cara pemeriksaan penyakit parkinson?
i. Mengapa paman mary menderita penyakit parkinson pada usia 52 tahun?
j. Bagaimana pedigree keluarga james dan mary?
k. Apa makna tuan james memiliki satu saudara dengan retardasi mental ringan?

KETERKAITAN ANTAR MASALAH

Disabilitas intelektual yang diturunkanx linked inheritanceMUTASI PADA GEN
MFR1repeat cgg >200tidak terbentuk protein

LI
1.Fragile x syndrome
a. definisi & aspek biomolekuler/patofisiologi (izzah
b . gejala klinis (ningrum
c. pattern of inheritance (izzah
d. reccurent risk
e. pedigree pada kasus (diana
f. pemeriksaan fisik sesuai kasus
g. . pemeriksaan penunjang : biomolekuler dan analisis dna, (diana
i. konsultasi genetika,
j. anamnesis

2. Parkinsons disease
a. definisi,patofisiologi,
b. penyebab
c. pemeriksaan
d. anamnesis

3. retardasi mental (
4. gangguan bicara (
5. tumbuh kembang anak (