Archive for February 4, 2010


February 4, 2010 Leave a comment


From Wikipedia, the free encyclopedia

Dysgraphia (or agraphia) is a deficiency in the ability to write by hand, regardless of the ability to read, not a result of intellectual impairment.

People with dysgraphia usually can write on some level, and often lack other fine motor skills, finding tasks such as tying shoes difficult. It often does not affect all fine motor skills. They can also lack basic spelling skills (for example, having difficulties with the letters p, q, b, and d), and often will write the wrong word when trying to formulate thoughts (on paper). In childhood, the disorder generally emerges when the child is first introduced to writing. The child may make inappropriately sized and spaced letters, or write wrong or misspelled words despite thorough instruction. Children with the disorder may have other learning disabilities, but they usually have no social or other academic problems. Cases of dysgraphia in adults generally occur after some neurological trauma. Dysgraphia may also be diagnosed in a person with Tourette syndrome, ADHD or an autism spectrum disorder such as Asperger syndrome. The DSM IV identifies dysgraphia as a “Disorder of Written Expression” as “writing skills (that) …are substantially below those expected given the person’s …age, measured intelligence, and age-appropriate education.”


The cause of dysgraphia is unknown but whenever it occurs in an adult, it is usually caused by head trauma, some types of diseases or brain damage. When it is found in children there is a tendency for there to be multiple dysgraphics in his or her family. A parent or close relative of the child tend to also show signs of dysgraphia.

There have been few studies on dysgraphia.

Types of dysgraphia

Some children may have a combination of two or all three of these,

Dyslexic dysgraphia

With dyslexic dysgraphia, spontaneously written work is illegible, copied work is fairly good, and spelling is bad. Finger tapping speed (a method for identifying fine motor problems) is normal, indicating the deficit does not likely stem from cerebellar damage. A dyslexic dysgraphic does not necessarily have dyslexia. (Dyslexia and dysgraphia appear to be unrelated but are often found together.)[citation needed]

Motor dysgraphia

example of motor dysgraphia in a 30 year old female.

Motor dysgraphia is due to deficient fine motor skills, poor dexterity, poor muscle tone, or unspecified motor clumsiness. Motor dysgraphia may be part of the larger problem of motor apraxia. Generally, written work is poor to illegible, even if copied by sight from another document. Letter formation may be acceptable in very short samples of writing, but this requires extreme effort and an unreasonable amount of time to accomplish, and cannot be sustained for a significant length of time. Writing long passages is extremely painful and cannot be sustained. Letter shape and size becomes increasingly inconsistent and illegible. Writing is often slanted due to holding a pen or pencil incorrectly. Spelling skills are not impaired. Finger tapping speed results are below normal.

Spatial dysgraphia

A person with dysgraphia due to a defect in the understanding of space has illegible spontaneously written work, illegible copied work, but normal spelling and normal tapping speed.

Symptoms of dysgraphia

The child generally takes much longer than their peers to complete a written assignment despite having normal or even above average intelligence, a reluctance or refusal to complete writing tasks, and a strong preference to write in print instead of cursive.

Other symptoms include an inappropriate mixture of upper/lower case letters or all upper case letters, irregular letter sizes and shapes, unfinished letters, inability to stay within the lines of a page, struggle to use writing as a communications tool, odd writing grip, many spelling mistakes, frequent reversal of letter sequences, decreased or increased speed of writing and copying, talks to self while writing, muscle spasms in the arm and shoulder (sometimes in the rest of the body), inability to flex (sometimes move) the arm (creating an L-like shape), and general illegibility.

Many people who are dysgraphic experience pain while writing. The pain usually starts in the center of the forearm and then spreads along the nervous system to the entire body. This pain can get worse or even appear when a dysgraphic is stressed. Few people who do not have dysgraphia know about this, because many with dysgraphia will not mention it to anyone. There are a few reasons why pain while writing is rarely mentioned:

  • Sufferers do not know that it is unusual to experience this type of pain with writing.
  • If they know that it is different from how others experience writing, they feel that few will believe them.
  • Those who do not believe that the pain while writing is real will often not understand it. It will usually be attributed to muscle ache or cramping, and it will often be considered only a minor inconvenience.
  • For some people with dysgraphia, they no longer write, and just type everything, so they no longer feel this pain.

Another aspect of this, is that instead of a feeling of pain, the person may experience a sense of considerable effort and exhaustion as if they were lifting heavy weights repeatedly. This occurs even though arm and hand strength are normal.

Parents should be alert for children who have an unusual amount of difficulty learning how to hold a fork or spoon.

Common problems that are often associated with dysgraphia


There are some common problems not related to dysgraphia but often associated with dysgraphia, the most common of which is stress. Often children (and adults) with dysgraphia will become extremely frustrated with the task of writing (and spelling); younger children may cry or refuse to complete written assignments. This frustration can cause the child (or adult) a great deal of stress and can lead to stress-related illnesses. This can be a result of any symptom of dysgraphia.

Afflicts Adults

It should be noted that children do not generally outgrow this problem, it continues to affect them as adults.

ADHD and Autism

As noted above, people with ADHD and Autism also have a high probability of being affected by dsylexia and dysgraphia and other learning disabilities.


Treatment for dysgraphia varies and may include treatment for motor disorders to help control writing movements. Other treatments may address impaired memory or other neurological problems. Some physicians recommend that individuals with dysgraphia use computers to avoid the problems of handwriting.

Occupational therapy could be considered to strengthen muscle tone, improve dexterity, and evaluate eye-hand coordination. Dysgraphic children should also be evaluated for ambidexterity, which can delay fine motor skills in early childhood.

Often small things can help students with dysgraphia, such as allowing them to use a preferred writing utensil or allowing them to submit typewritten work instead of requiring their work to be handwritten.

Suggestions for teachers and parents:[citation needed]

  1. Use of small pencils (a typical pencil cut in thirds) golf pencils, or triangular shaped pencils all promote a functional grip. Jumbo pencils are useful for individuals with tremors or some types of cerebral palsy.
  2. Ensure that solid handwriting instruction has taken place. The student should be able to tell how each letter is made using the same verbiage as the teacher.
  3. Before the student begins to compose a paper, have them engage in prewriting activities such as webbing, or verbalizing what they will write about.
  4. Use pre-lined paper that has yellow highlighting where the words are supposed to go
  5. Allow students extra time to complete in-class assignments; otherwise they won’t get the benefit of the instructional practice
  6. Get students keyboarding early on
  7. Allow students to use laptop or other computer for class work
  8. Allow children to dictate to an adult; they can then recopy if necessary
  9. Allow children to dictate into a tape recorder; they or an adult can transcribe later. This allows the creative output process to occur without being stopped by the execution problem.
  10. a computer equipped with a speech recognition system can be a huge asset, but it can be difficult to find a quiet space in which to use it.
Categories: Dsylexia, Dysgraphia

Ciri Tangan Down Syndrome

February 4, 2010 Leave a comment

Ciri tangan down sindrome

Pliegue simiesco

Ciri-ciri tuna grahita juga tampak pada garis tangan. Gambar di atas menunjukkan perbedaan antara garis tangan yang normal dan yang mengalami tuna grahita. Hal ini bisa dilihat ketika kelahiran bayi (new born).

How is Down Syndrome Detected

February 4, 2010 Leave a comment

Down syndrome is a genetic disease caused by an abnormal level of the 21st human chromosome. Genetic disease called Down syndrome was named after the British doctor John Langdon Down, who described the first time in 1866. Identifying the causes that produce a syndrome, but was only made in 1959 by Jérôme Lejeune.

How is Down syndrome detected

Down syndrome is identified by a combination of major and minor differences in body structure.
Often Down syndrome is associated with poor physical development and mental retardation, people with Down syndrome have features characteristic feature of the disease has been nimita and mongolism.
Tests performed by the expectant mothers in the time period of pregnancy may lead to detection of this disease chromosomal genetic origin since intrauterine period.

People affected by Down syndrome usually have physical and mental abilities lower, often because of retardation or severe physical environment. People who suffer from this disease have a slow mind in May and / or are a joint out of naivete. Only a small number suffer from a mental retardation very seriously. Incidence of occurrence of this genetic disease is 1 to 800-1.000 of births.

Children who suffer from Down syndrome are prone bolor heart, stomach diseases and diseases of the ears. And many other shortcomings. However, although this disease is not curable, quick medical intervention, and analyzes the required tests and medical treatment in cases where it is appropriate, disease, care and love of parents can significantly improve the lives of children suffering from this disease.

What is Down syndrome
Down syndrome is a congenital disease in which genetic material cause abnormal development of children and is the most frequent cause of mental retardation, with an incidence of 1 in 800 new-born. Affection Symptoms vary from one child to another. If some of them need special medical attention, others come to lead a life almost independent.
Although it can not be prevented, Down syndrome can be detected before birth of the child.
Parents whose children suffer from Down syndrome should diminish with infinite care and love efetele of genetic errors.

Down syndrome causes the appearance
Upon conception, the baby inherits genetic information from two parents in the form of 46 chromosomes, 23 from his mother and 23 from dad.
In case of occurrence Down syndrome, the child inherits an extra chromosome, that is has 47 chromosomes instead of 46.
Although this freak genetic causes are not known, as there was no way of providing an error chromosomal cause, researchers have found that the risk of occurrence of the syndrome increases with the aging of women.

Mongoloid features
Your doctor may diagnosis of Down syndrome only by a simple physical examination of new-born, which has certain characteristic features evident: round face, occiputul flatten, eyes oriented Mongoloid, a single ditch in the palms, small mouth, small ears, short neck, excess skin in neck area, hands and feet small, with short fingers. Also, muscle tone is low, and the joints are weak, the child having an issue particularly lax.
If the birth of a child increased the muscle tone, children with Down syndrome do not have it are soft, semanand with a doll in the Carpathians.
Although their status may improve in time, children with Down syndrome about more difficult, compared with the normal habits certain age, like the standing, walking on all fours or walking.
If children from birth to Down syndrome have a medium size, these children grow up with a slower rate in May and remain short.
Obesity may sometimes occur and can manifest itself frequently recurring infections or may develop autoimmune diseases, from diabetes to leukemia.
In small, low muscle tone may contribute to the emergence of problems and wasted food or digestive diseases.
In children who go up or the somewhat higher delay is observed in terms of speaking and physical activities such as eating, imbracatul or skills to go to the bathroom.

Down syndrome: prenatal screening in
Attention future mummy! Down syndrome may be during prenatal diagnosis relatively easy. The most effective method of detecting Down sindroului is biochemical test method, called triple test, that includes the quantification of three parameters.
There quadruple test, which includes inhibina with a higher sensitivity.
Currently, both tests are available in Romania, both in maternity clinics and in private, at a reasonable price.
Optimum age for pregnancy making a triple test is between 14 and 16 weeks. If after making this biochemical test is found an increased risk for Down syndrome, besides a detailed fetal ultrasound examination is recommended to perform amniocentezei and cariotipului fetal (fetus chromosome study using culture of fetal cells) and FISH test (study the fetal chromosomes fluorescence method).
These tests are designed to confirm the suspicion and diagnosis of Down syndrome.
Because prenatal diagnosis is possible, the decision regarding the evolution of a pregnancy affected with fat belongs entirely torque.



February 4, 2010 Leave a comment


Kelainan sindrom Down terjadi karena kelebihan jumlah kromosom pada kromosom nomor 21, yang seharusnya dua menjadi tiga. Kelainan kromosom itu bukan faktor keturunan. Kelainan bisa menyebabkan penderitanya mengalami kelainan fisik seperti kelainan jantung bawaan, otot-otot melemah (hypotonia), dan retardasi mental akibat hambatan perkembangan kecerdasan dan psikomotor. Hingga kini, penyebab kelainan jumlah kromosom itu masih belum dapat diketahui. 3, 5
Pada penderita Sindrom Down jumlah kromosom 21 tidak sepasang, tetapi 3 buah sehingga jumlah total kromosom menjadi 47. Bila bayi itu beranjak besar, maka perlu pemeriksaan IQ untuk menentukan jenis latihan sekolah yang dipilih. Pemeriksaan lain yang mungkin dibutuhkan adalah pemeriksaan jantung karena pada penderita ini sering mengalami kelainan jantung. 4

Kelainan ditemukan diseluruh dunia pada semua suku bangsa. Diperkirakan angka kejadian 1,5 : 1000 kelahiran dan terdapat 10 % diantara penderita retardasi mental. 3
Menurut Biran, sejauh ini diketahui faktor usia ibu hamil mempengaruhi tingkat risiko janin mengidap SD. Usia yang berisiko adalah ibu hamil pada usia lebih dari 35 tahun. Kehamilan pada usia lebih dari 40 tahun, risikonya meningkat 10 kali lipat dibanding pada usia 35 tahun. Sel telur (ovum) semakin menua seiring pertambahan usia perempuan. 3

Sindrom Down B. ETIOLOGI
Sindrom Down banyak dilahirkan oleh ibu berumur tua (resiko tinggi), ibu-ibu di atas 35 tahun harus waspada akan kemungkinan ini. Angka kejadian Sindrom Down meningkat jelas pada wanita yang melahirkan anak setelah berusia 35 tahun ke atas. Sel telur wanita telah dibentuk pada saat wanita tersebut masih dalam kandungan yang akan dimatangkan satu per satu setiap bulan pada saat wanita tersebut akil balik. 2
Pada saat wanita menjadi tua, kondisi sel telur tersebut kadang-kadang menjadi kurang baik dan pada waktu dibuahi oleh sel telur laki-laki, sel benih ini mengalami pembelahan yang kurang sempurna. Penyebab timbulnya kelebihan kromosom 21 bisa pula karena bawaan lahir dari ibu atau bapak yang mempunyai dua buah kromosom 21, tetapi terletak tidak pada tempat yang sebenarnya, misalnya salah satu kromosom 21 tersebut menempel pada kromosom lain sehingga pada waktu pembelahan sel kromosom 21 tersebut tidak membelah dengan sempurna. 4
Faktor yang memegang peranan dalam terjadinya kelainan kromosom adalah:
1. Umur ibu : biasanya pada ibu berumur lebih dari 30 tahun, mungkin karena suatu ketidak seimbangan hormonal. Umur ayah tidak berpengaruh
2. Kelainan kehamilan
3. kelainan endokrin pada ibu : pada usia tua daopat terjadi infertilitas relative, kelainan tiroid. 2

Semua individu dengan sindrom down memiliki tiga salinan kromosom 21. sekitar 95% memiliki salinan kromosom 21 saja. Sekitar 1 % individu bersifat mosaic dengan beberapa sel normal. Sekitar 4 % penderita sindrom dowm mengalami translokasi pada kromosom 21. Kebanyakan translokasi yang mengakibatkan sindrom down merupakan gabungan pada sentromer antara kromosom 13, 14, 15. jika suatu translokasi berhasil diidentifikasi, pemeriksaan pada orang tua harus dilakukan untuk mengidentifikasi individu normal dengan resiko tinggi mendapatkan anak abnormal. 1

Gejala yang biasanya merupakan keluhan utama dari orang tua adalah retardasi mental atau keterbelakangan mental (disebut juga tunagrahita), dengan IQ antara 50-70, tetapi kadang-kadang IQ bias sampai 90 terutama pada kasus-kasus yang diberi latihan. Pada bayi baru ahir, dokter akan menduga adanya Sindrom Down karena gambaran wajah yang khas, tubuhnya yang sangat lentur, biasanya otot-ototnya sangat lemas, sehingga menghambat perkembangan gerak bayi. Pada saat masih bayi tersebut sulit bagi seorang dokter untuk menentukan diagnosisnya, apalagi orang tuanya juga mempunyai mata yang sipit atau kecil. Untuk memastikan diagnosis perlu dilakukan pemeriksaan kromosom dari sel darah putih.4
Anak dengan sindrom down sangat mirip satu dengan satu dengan yang lainnya,seakan akan kakak beradik. Retardasi mental sangat menonjol disamping juga terdapat retardasi jasmani. Kemampuan berfikir dapat digolongkan pada idiot dan imbesil, serta tidak akan mampu melebihi seorang anak yang berumur tujuh tahun. Mereka berbicara dengan kalimat-kalimat yang sederhana, biasanya sangat tertarik pada musik dan kelihatan sangat gembira. Wajah anak sangat khas. Kepala agak kecil dengan daerah oksipital yang mendatar. Mukanya lebar, tulang pipi tinggi, hidung pesek, mata letaknya berjauhan, serta sipit miring ke atas dan samping (seperti mongol). Iris mata menunjukkan bercak-bercak ( bronsfield spots ). Lipatan epikantus jelas sekali. Telinga agak aneh, bibir tebal, dan lidah besar, kasar dan bercelah-celah (scrotal tongue). Pertumbuhan gigi geligi sangat terganggu. 2
Kulit halus dan longgar tetapi warnanya normal. Dileher terdapat lipatan-lipatan yang berlebihan. 2
Pada jari tangan terdapat kelingking yang pendek dan membengkok ke dalam. Pada pemeriksaan radiologis sering ditemukan falang tengah dan distal rudimenter. Jarak antara jari satu dan dua, baik tangan maupun kaki agak besar. Gambaran telapak tangan tampak tidak normal, yaitu terdapat satu garis besar melintang (siniam crease ). 2
Alat kelamin biasanya kecil, otot hipotonik dan pergerakan sendi berlebihan. Kelainan jantung bawaan, seperti defek septum ventrikel sering ditemukan. 7
Penyakit infeksi terutama saluran pernafasan sering mengenai anak dengan kelainan ini. Angka kejadian leukemia tinggi. Pertumbuhan pada masa bayi kadang-kadang baik, tetapi kemudian menjadi lambat. 2

Pada bayi baru lahir, dokter akan menduga adanya Sindrom Down karena gambaran wajah yang khas, tubuhnya yang sangat lentur, biasanya otot-ototnya sangat lemas, sehingga menghambat perkembangan gerak bayi. 4
Diagnosis ditegakkan berdasarkan
1. gejala klinis
2. pemeriksaan tambahan:
a. dermatoglifik
b. pemeriksaan kromosom
3. patologi anatomi.
Otak anak dengan kelainan ini biasanya lebih kecil dari normal dan makin besar anak, pertumbuhan otak makin ketinggalan. 2.6

1. Hipotiroidisme
Kadang-kadang sulit dibedakan. Secara kasar dapat dilihat dari aktifitasnya, karena anak-anak denganhipotiroidisme sangat lambat dan malas, sedangkan anak dengan sindrom down sangat aktif
2. akondroplasia
3. rakitis
4. sindrom turner
5. Penyakit trisomi
Penyakit angka kejadian kelainan Keterangan Prognosis
trisomi 21
(sindroma down 1 dari 700 bayi baru lahir kelebihan kromosom 21 perkembangan fisik & mental terganggu, ditemukan berbagai kelainan fisik biasanya bertahan sampai usia 30-40 tahun
trisomi 18
(sindroma edwards) 1 dari 3.000 bayi baru lahir kelebihan kromosom 18 kepala kecil, telinga terletak lebih rendah, celah bibir/celah langit-langit, tidak memiliki ibu jari tangan, clubfeet, diantara jari tangan terdapat selaput, kelainan jantung & kelainan saluran kemih-kelamin jarang bertahan sampai lebih dari beberapa bulan; keterbelakangan mental yg terjadi sangat berat
trisomi 13
(sindroma patau) 1 dari 5.000 bayi baru lahir kelebihan kromosom 13 kelainan otak & mata yg berat, celah bibir/celah langit-langit, kelainan jantung, kelainan saluran kemih-kelamin & kelainan bentuk telinga yg bertahan hidup sampai lebih dari 1 tahun, kurang dari 20%; keterbelakangan mental yg terjadi sangat berat

Cara medik tidak ada pengobatan pada penderita ini karena cacatnya pada sel benih yang dibawa dari dalam kandungan. Pada saat bayi baru lahir, bila diketahui adanya kelemahan otot, bisa dilakukan latihan otot yang akan membantu mempercepat kemajuan pertumbuhan dan perkembangan anak. Penderita ini bisa dilatih dan dididik menjadi manusia yang mandiri untuk bisa melakukan semua keperluan pribadinya sehari-hari seperti berpakaian dan buang air, walaupun kemajuannya lebih lambat dari anak biasa. 4
Biasanya bertahan sampai usia 30-40 tahun. Perkembangan fisik & mental terganggu, ditemukan berbagai kelainan fisik. 5
Kemampuan berfikir dapat digolongkan pada idiot dan biasanya ditemukan kelainan jantung bawaan, seperti defek septum ventrikel yang memperburuk prognosis. 7
Kelainan bisa menyebabkan penderitanya mengalami kelainan fisik seperti kelainan jantung bawaan, otot-otot melemah (hypotonia), dan retardasi mental akibat hambatan perkembangan kecerdasan dan psikomotor. 7
Deteksi dini sindrom Down dilakukan pada usia janin mulai 11 minggu (2,5 bulan) sampai 14 minggu. Dengan demikian, orangtua akan diberi kesempatan memutuskan segala hal terhadap janinnya. Jika memang kehamilan ingin diteruskan, orangtua setidaknya sudah siap secara mental. 3
Para ibu dianjurkan untuk tidak hamil setelah usia 35 tahun. Memang ini merupakan suatu problem tersendiri dengan majunya zaman yang wanita cenderung mengutamakan karier sehingga menunda perkawinan dan atau kehamilan. Sangatlah bijaksana bila informasi ini disampaikan bersama-sama oleh petugas keluarga berencana.4
Berkonsultasilah ke dokter bila seorang pernah mengalami keguguran atau melahirkan anak yang cacat karena mungkin wanita tersebut memerlukan pemeriksaan-pemeriksaan tertentu untuk mencari penyebabnya. Bila sudah terjadi kehamilan pencegahan bisa dilakukan dengan pemeriksaan darah dan atau kromosom dari cairan ketuban atau ari-ari seperti telah disebutkan.4


1. Behrman, Richard E. Kelainan klinik yang mengenai Otosom, dalam : Nelson. Ilmu Kesehatan Anak. Edisi 15. Bagian 1. Penerbit buku kedokteran EGC 1994 : 392-394
2. Hasan Rusepno. Husein Alatas. Kelainan kromosom. dalam: Ilmu Kesehatan Anak1. Cetakan ke 8. Bagian Ilmu kesehatan Anak Fakultas Kedokteran Universitas Indonesia. Jakarta. 1985: 217-219
3. Kompas Iptek: Deteksi Dini Janin Sindrom Down Tidak harus Mahal, Evailable at:http//
4. Suara Merdeka: Sindrom Down Penyebab Utama Keterbelakangan Mental, Available at: http//www. Suara
5. Sindroma down at:
6. Usia 30 Tahun keatas beresiko tinggi lahirkan Sinrom Down. Available at:http//
7. Down Sydrome survival Rate Increasing; Racial Disparitas Exist In a Large Metropolitan Area. Available at:http//www.cdc.gove/od/oc/media/pressrel. Read more…