Kasus Inggris 1 hasil

LAPORAN KASUS INGGRIS

A Child With Arthrogryposis

Multiplex Congenita (AMC)

Oleh :

Sofyan Cholid

Pembimbing:

DR.Dr. Tjipta Bahtera, SpA(K)

BAGIAN ILMU KESEHATAN ANAK FK UNDIP SMF KESEHATAN ANAK RS. Dr. KARIADI

SEMARANG

2010

1

PENDAHULUAN

Description

Arthrogryposis multiplex congenita is a collective term applied to a very large

number of different syndromes characterised by non-progressive, multiple joint

contractures present at birth.1,2 The joints usually develop normally in early

embryonic life but as gestation progresses, movements are required to facilitate

normal development.

Epidemiology

It may occur to some extent in 1 in 3,000 live births. The condition is

usually detected at birth or before by ultrasound examination.

It is often secondary to other conditions.

If they are X-linked this will produce a male preponderance but otherwise

there is an equal sex incidence.

It has been found to be more common in some isolated communities in

Finland and Israel.2

Prevention

Genetic advice may be essential to prevent arthrogryposis. Extrinsically derived

contractures have a low recurrence risk, but the recurrence risk for intrinsically

derived contractures depends on aetiology and ranges from 3% to 50%.2

2

Here is presented a case of England. The purpose of this case is discussed

patofisiologis aspects, diagnosis and management of a male child three years four

months with Arthrogryposis Multiplex Congenita (AMC). The presence of

multiple joint disorder caused this child born with difficulties in fine and gross

motor movement. Various complications experienced in the early days of the life

and early intervention is not optimal given the impact on child growth and

development for approximately three years prior to the Polyclinic at Dr. Kariadi

Hospital for treatment.

3

CASE

The case was a boy T 3 years 2 months living in Semarang, born November 22,

2003. He is the second of two brothers. Patients came to clinic at Dokter Kariadi

Hospital referral general practice with a complaint can not walk, from anamnesis

data obtained from birth the child suffered physical abnormality in the form of

both feet facing inwards, arms look limp. Have taken medication to alternative

and bone specialists. After 40 days of age the child placed a cast on both legs,

made observations to 8x unloading gypsum pairs but there is no progress .

Children recommended for surgery. 14 months of age undergoing corrective

surgery on both legs at the Regional General Hospital, followed by physiotherapy

('ve ± 30 months before coming to poliklink RSDK, does not always come

according to the schedule stipulated), are still not able to walk by himself, still

"shuffle". The Child can hear, when called in turn, heard a motorcycle when his

father came home from work to understand. Second hand therapy has not been

done, now there is still difficulty in using hands to hold something. 5 months ago

re-examined at the Regional General Hospital to did examination at the hands

X-ray imperfect bone formation. Coming to RSDK for further therapy.

Growth History:

- Motorik : Oblique

Prone

Lift head

Back on his back from the prone position

Sitting with his head erect without grip

Crawl

Switching places with "shuffle"

6 month

7 month

7 month

9 month

10 month

12 month

18 month

4

Stand holding

Walking alone

2 years

Not yet

- Language : Smile

Laugh

Calling the first word (mama, father)

Simple sentences (2-3 words)

3 month

5 months

1 year

2 year

Sosial personality: Drinking from a glass / cup independent.

Eating independently

Not yet

Not yet

-impression : Growth and development are not age-appropriate

Disease and Family History Long ago, can not find a history of seizures (-),

trauma (-), pulmonary TB undergoing treatment since the age of 14 months until

20 months doctor said recovered

In family is not found abnormalities arthrogryposis.

Perinatal History, Child born to mothers 24 years G2P1A0 nine months pregnant,

the ANC (+) in the midwife, ANB (-), pregnancy, disease history (-), trauma (-),

big pregnancy pregnancy are smaller than the previous child. KK (-) during the

operation, the number and condition of the amniotic fluid did not know. Male

babies born in private hospital in Semarang in SC over a narrow pelvis indication,

burst into tears, BBL 2700 gr 48.5 cm TL. Congenital anomaly (+) both feet

facing inwards, hands seemed to wilt.

Immunisation History, complete basic immunization in accordance ages.

Social and Economic History, father of a primary school teacher with income

class IIID ± Rp. 1.700.000/month support a wife and two dependent children,

5

living in their own permanent houses (LT ± 100m2). Mother sufferer does not

work. Impressions: enoughsocioeconomic .

6

Family Tree: The patient is a child to the second of two brothers.

Physical examination at the moment she first came to the RSDK clinic, obtained

Men 3 years 2 months, weight 9700 grams, body length 84.5 cm, komposmentis

consciousness, head circumference 48 cm (mesochepal), cardiac frequency 126 x /

min pulse within normal limits, frequency of breathing 20 x / min, temperature

370C. Found no clinical anemis found no dysmorphic facial: hipertelorisme, sadle

nose, palate high position, makroglosia, low-set ear. On examination of the chest

and abdomen found no abnormalities.

Ekstremitas : Superior Inferior

Deformitas

Motorik Gerak

Tonus

Trofi

Dekstra

drop hand

+

distrofi

Sinistra

drop hand

+

distrofi

Dekstra

CTEV

+

distrofi

Sinistra

CTEV

+

Distrofi

7

Kekuatan

Refleks Fisiologis

Refleks Patologis

Klonus

Kesan 3

-

Kesan 3

-

Kesan 4

-

-

Kesan 4

-

-

Range Of Movement (ROM)

Shoulder Joint Flexion 0-900 0-900

Abduction of the Shoulder Joint 0-900 0-900

Elbow Joint Flexion 20-900 20-900

Hand Wrist flexion 30-900 30-900

Holding ability minimal minimal

Developments with a screening examination

Denver II: Personal socially appropriate age 3 years, fine motor according to the

age of three years, the language according to age two years nine months, gross

motor according to the age of one year. Impression: delays on two sectors

ELM Scale2: equal with 21 months age

Supportif Examination

Pelvis X-Photo 28/02/2007

8

- good Structure and trabekulasion

- Joint space either

- There was no silting fossa right and left acetabulum

- There was no dislocation or discontinuity of bone

- Looks like there is an eksorotasion on left femur

Impressions: Eksorotasi on left femur

9

X-Photo Manus 28/02/2007

X-Photo Genu 26/03/2007

-

-

-

-

- A good bone structure, no visible lesions lytic, sclerotic and bone

destruction

- There seems lusensi submetaphyseal

- There was no metaphyseal and epiphyseal sclerosis

- There was no periosteal reaction

- The cortex does not attenuate

Impressions: Within normal limits

10

ASSESMENT :

1. Base of diagnosis : Suspect Distal Arthrogryposis Multiplex

Congenita

(Q74.3)

2. Comorbid Diagnosis:

Agenesis Metacarpal Sinistra et Dextra (Q74.0)

Developmental Delayed (R62.0)

3. Growth Diagnosis :

Delays in language and gross motor sector4. Diagnosis immunization : Complete basic age-appropriate \

5. Economic Social Diagnosis : Inadekuat Housing ( Z59.1 )

6. Nutrition Diagnosis : Poor nutrition

PROGRAM-PROGRAM

1. SPEECH THERAPY

- Exercise pronunciation - Stimulate the child to speak clearly is to train kata-kata/kalimat

2. OCCUPATIONAL THERAPY

- Gross motor movement exercises with walking exercises

- Practice fine motor movements with the activity (holding

exercises, writing, coloring)

- Making & manufacture of special shoes handsplint

3. INDEPENDENT CARE

- Exercise daily activities: bathing, dressing, use a comb, holding a

glass and spoon, so that the child is more erect

4. PSYCOLOGY

- Support for both mental parents & kids to be able to understand

& accept the physical limitations experienced by

IQ tests to Examination of psychological, determine the

appropriate child's education

5. SOCIAL MEDICAL

11

- Description of the disorder so that patients who have parents that

their children could receive

6. NUTRITION

- Improve the quality and quantity of dietary intake

12

Lahir 22/11/2003Riwayat persalinan sectioKeterbatasan fisik (CTEV, drophand)

Tidur miring

10 bulan

6 bulan

7 bulan

Tengkurap

Duduk

11 bulan

Berpindah tempat dengan cara ‘mengesot’

3 th 2 bulan

RSDK

Koreksi CTEV dg Gips penyesuaian 8x

Operasi CTEV

14 bulan

Fisioterapi RS Ketileng, pemasangan sepatu koreksi

12 bulan

1 kata (mama, papa, mba)

Kalimat sederhana (2 suku kata)

3 tahun2 th 9 bulan

X foto: agenesis metacarpal sin-dex

13

MONITORING OF A BOY WITH ATHROGRYPOSIS MULTIPLES CONGENITAL

DISCUSSION

Arthrogryposis Multiplex Congenita (AMC) is a syndrome characterized

by symptoms such as joint contractures progressively settled not include joints

throughout the body, accompanied with a picture of disorder and neuropathy,

among others miopati hipotoni and diminution of muscle mass that occur from

birth.3,4 In general, without being followed by disorders other serious birth, a

relatively normal level of intelligence.5 The incidence of one in 3000 live births.

This abnormality can be detected generally at or before birth with ultrasound,

morbidity and life expectancy is influenced by the severity of illness and is

associated with abnormal body shape, but generally within normal limits. 50% of

patients with involvement of vital organs and central nervous system disorders

will die in the first year of life, Scoliosis may lead to impacts on the his

respiration system.4

Children have a unique feature that is always growing and developing

since the moment of conception until the end adolescence. This is what

distinguishes children from adults. Child growth and development take place

regularly, interconnected and sustainable. There are so many factors that can

affect child growth and development. TSB factors are usually divided into two

internal factors such as genetics, race, age, gender and external factors such as

physical environment, nutrition, endocrine, infectious, socio-economic,

environmental and other parenting.6

Pathophysiology

14

Arthrogryposis multiplex congenita Since disorder is defined in the year

1841, since when it is still debated phatogenesisnya mechanism, for the reasons

stated is still not satisfactory because the fetus is experiencing some movement

disorders (immobilization) during intrauterine having arthrogryposis while other

cases not.7 There are two main types of AMC, which is the type of neuropathic

and myopathic.8 Myopathic more rare types with characteristic abnormalities

resembling progressive muscular dystrophies, this disorder is generally associated

with a hereditary disorder characterized by abnormal permanent flexion at the

groin and thorough abnormalities on chest bones and spine, while the type of

neuropathic disorders characterized by persistent flexion or extension at groin and

is not a hereditary disorder.8 During early embryogenesis, formation of joint is

generally within normal limits. The movement is an important factor for the

normal formation of the joint and its supporting structure, the presence of fetal

movement barriers may cause excessive formation of connective tissue that forms

around the foundation. This resulted in a fixed joints which followed the

movement of obstacles and finally make joint contractures.4 The main cause of

arthrogryposis is fetal akinesia (fetal movement barriers) because of abnormalities

in the fetus (including neurogenic factors, muscle or connective tissue disorders,

lack of mechanical moving on multiple pregnancy) or maternal disorders

(including infections, drugs, trauma, abnormalities shape of the uterus,

oligohydramnion), at each joint contractures is a nonspecific consequence of the

disruption of intrauterine movement.4,7,9 AMC is not a genetic disorder, but AMC

15

was able to accompany some genetically inherited diseases, eg, spinal muscular

atrophy type I, trisomy 18.4,5

Motion abnormalities in the fetus can also be caused by the existence in

the womb during hypotonia, congenital talipes Equinovarus (CTEV) is a disorder

that often arise, but the disorder can appear symmetrical flexion at all joints in the

four extremities. Differential diagnosis of arthrogryposis are same as neonatal

hypotonia, unless the factors that relate directly to the fetus like oligohydramnion

is worthy of consideration.7

Tabel 1 Differential diagnosis of infantile hypotoniaCerebral hypotonia1. Benign congenital hypotonia2. Chronic nonprogressive encephalopathy

a. Cerebral malformationb. Perinatal distressc. Postnatal disorders

3. Chromosomal disordersa. Autosomal abnormalitiesb. Prader-Willi syndrome

4. Peroxisomal disordersa. Cerebrohepatorenal syndrome (Zellwenger)b. Neonatal adrenoleukodystrophy

5. Other metabolic defectsa. Acid maltase defisiencyb. Infantile GM1 gangliosidosis

6. Other genetic defectsa. Familial dysautonomiab. Oculocerebrorenal syndrome (Lowe)

Neonatal spinal cord injury1. Breech presentation2. Cephalic presentationMotor neuron disorders1. Spinal muscular atrophies

a. Acute infantileb. Chronic infantilec. Infantile neuronal degenerationd. Neurogenic arthrogryposis

16

e. Incontinentia pigmenti2. Congenital hypomyelinating neuropathyDisorders of neuromuscular transmission1. Infantile botulism2. Myasthenia gravis

a. Transitory neonatal myastheniab. Congenital myastheniac. Familial infantile myasthenia

Fiber type disproportion myopathies1. Congenital fiber type disproportion myopathy2. Myotubular (centronuclear) myopathy

a. Acuteb. Chronic

3. Nemaline (rod) myopathy4. Central core disease

Muscular dystrophies1. Congenital muscular dystrophy

a. Without cerebral involvement- Mild- Severe- Hypotonic-sclerotic

b. With cerebral involvement- Fukuyama type- With hypomyelination- With cerebro-ocular anomalies

c. With autosomal dominant inheritance2. Myotonic dystrophyMetabolic myopathies1. Acid maltase deficiency2. Cytochrome-c-oxidase deficiency3. Carnitine deficiency4. Phosphofructokinase deficiency5. Phosporylase deficiencyInfantile myositis

Classification

Athrogryposis Multiplex Congenita (AMC) can be caused by primary

factors such as alteration during the intrauterine period (intrauterine constraint) or

because of secondary factors such as neuropathic disorders and miopatik.10 Other

literature classifies the AMC which is caused by neurological factors and non-

Source: Fenichel Gerald M, 2007.4

17

neurological, non-neurologic factors that cause cartilage AMC is due to the

abnormal tissue and because of the limitations of physical movement (physical

constraints), while the AMC because of a neurological disorder that involves

abnormalities in the composition system central and peripheral nervous.11

18

Here is a chart of classification AMC

AMC because the cartilage defects

AMC may arise because of abnormalities on neonatal growth of cartilage

tissue that exceeds the age of gestation, which may be accompanied by clinical

abnormalities such as hiperekstensi position and network a transparent skin, blue

sclera, ear deformities and craniosynostosis. Level of general intelligence within

normal limits on AMC because the cartilage abnormalities.11 Abnormal formation

of cartilage tissue can cause the formation of hiperelastic joints which will

dominate the weakest joint area, if accompanied by a disorder that can lead to

mobilization of arthrogryposis. Neonates with AMC caused by abnormalities in

cartilage tissue generally is one of the symptoms of: Beal syndrome, Antley-Bixer

syndrome or a condition associated with distal arthrogryposis.11

Beal syndrome clinical characteristic can be detected with the present of

ear-fold (crumpled ear), the fingers are long and slender and short neck,

source: Alfonso I, 20008Figure 1. AMC Classification

19

resembling patients with Marfan syndrome and arthrogryposis a double helix,

Beal's syndrome is an autosomal dominant disorder and is associated with fibrillin

locus on chromosome 5q23-31. Whereas the characteristics of the syndrome,

Antley-Bixer have distinctive facial features resembling Crouzon syndrome and

description of the dominant face of midfacial hypoplasia. Midfacial hypoplasia

may manifest in depressed nasal bridge (nasal bridge) and the presence of choanal

atresia is an autosomal recessive kelaianan. Neonates with distal arthrogryposis

syndrome is generally the same as neonates with AMC caused by abnormalities in

cartilage tissue, but in few cases can be accompanied with a cleft palate (cleft

palate), cleft lip (cleft lift), which forms a small tongue, trismus, ptosis In general,

the normal facial shape.

AMC clinical manifestations of distal consists of various variables, but

generally the picture of severe joint contractures and muscle growth or amyoplasia

barriers. Typical picture of the body that affect motion including motion in the

barrier, the soles (67%), hip joint (50%), wrist (43%), knee (41%), elbow (30%)

and shoulder (4%). There are two general variations in the AMC. Type 1 (typical

of distal arthrogryposis), in patients found flexion and hip joint dislocations, knee

extension, clubfeet (equinovarus), rotation to the shoulder joint, flexion of the

elbow joint and found the existence of flexion and ulnar deviation at the wrist

with a level of intelligence within normal limits , Distal Arthrogryposis Type 1

(Type 1 DA) are genetically related to views of non-sex linked (autosomal)

dominant caused by mutations in the short arm of chromosome 9 is located in the

9p21-q21.12 Type 2 (atypical distal arthrogryposis) who is an autosomal dominant

20

disorder with mutations in the gene short arm of chromosome 11, especially

11p15, found the existence of abduction and rotation out of the hip joint, knee

flexion, clubfeet, rotation to the shoulder joint, elbow extension and flexion and

ulnar deviation setback on the wrist with a mild level of intelligence.12,13,14,15

Tebel 2. Differential diagnosis of arthrogryposis

Non-fetal causeFetal, non-nervous system causesCerebral malformationsChromosomal disordersCerebrohepatorenal syndromeMotor unit disorders

Congenital cervical spinal atrophyCongenital fiber type disproportion myopathyCongenital muscular dystrophyFamilial infantile myastheniaInfantile neuronal degenerationMyotonic dystrophyNeurogenic arthrogryposisPhosphofructokinase deficiencyTransitory neonatal myasthenia

X-linked distal arthrogryposis

AMC because of the limitations of physical movement

Arthrogryposis due to limited physical motion occurs due to the reduced

capacity of the uterus (oligohydramnion, anatomical deformities of the uterus,

uterine tumors) or because of the problems that resulted in the formation of skin

tissue resistance in the movement of such joints which can be found in Escobar

syndrome.11

AMC for neurological disorders

Sumber: Sumber: Fenichel Gerald M, 2007.4

21

Neurological disorders is suspect at any AMC in neonates who are not

accompanied by signs that lead to abnormalities of cartilage or of suspicions

toward oligohydramnion. Disparity of this type can be at the level of the

cerebrum, cerebellum and brain stem (trisomy 13 syndrome, trisomy 18,

syndrome, Smith-Lemli-Opitz syndrome, Zellweger syndrome, Walker-Warburg

and Marden-Walker syndrome), spinal nervous system, lower motor neuron

(Amyoplasia Congenital, infantile spinal muscular atrophy, infantile neuronal

degeneration, focal infantile spinal muscular atrophy, sindrom Moebius)

peripheral nerve (congenital hypomyelinating neuropathy), myoneural junction

(transient congenital myasthenia gravis, infant of mother with multiple sclerosis)

and muscle tissue (congenital myotonic dystrophy, congenital muscular

dystrophy). Arthrogryposis due to neurological abnormalities can be both

symmetrical and asymmetrical, broad or partial, distal and proximal

In cases, the abmormalities classified as distal AMC above considerations

are not met dysmorphic face with the level of intelligence in the normal range (IQ

95), leading to joint contractures picture owned by AMC disorders caused by

abnormalities of the distal non-neurological form of suspicions surrounding

connective tissue disorder joints that accompanied the limitations of physical

movement (physical constraint to movement) for consideration in the anamnesis

of pregnancy data obtained is less than the previous pregnancy because one of

causes of limitation of movement during intrauterine could be due to the reduced

capacity of the uterus during pregnancy due to the small amount of amniotic fluid

(oligohydramnion). Other anatomical deformity of the uterus can be caused by

22

tumors of intra / extra-uterine. In addition to limitations because of the uterus,

arthrogryposis because of abnormality of this type can also occur because of

abnormalities in fetal skin tissue this occurs in Escobar syndrome.11

Diagnosa

AMC diagnosis can be established since the time of prenatal care based on

the discovery of factors that inhibit the movement of fetus in the uterus and the

finding of joint contractures on Ultra sonography examination. Early diagnosis

can be enforced in the first trimester or early second trimester with the detection

of tissue edema subkutaneus, AMC also been reported with increasing "nuchal

translucency" and scoliosis can be established diagnosis with ultrasound at 15

weeks gestational age.16 While the post-natal diagnosis is generally obvious after

preliminary observations with the finding of contractures in several joints of

patients who were observed..11 Symptoms found in patients with AMC is the

limited movement of joints since birth and are not progressive. Movement joint

contractures may be experiencing barriers extension or flexion, adduction of the

shoulder joint and is generally experienced in the direction of rotation, elbow joint

extension, wrist and finger flexion. Hip joint dislocation can be experienced and

23

suffered a mild flexion position, with knee in extension position with your feet in

equinovarus position. In some cases it can be found there scoliosis.17

In this case, parents feel the patients had abnormalities on limb compared

to the previous child was born and disorder since it tends to settle does not get

worse from time to time. The diagnosis is based on encounters several limb joints

that experienced contractures, the resistance movement in the joints that are not

members of the progressive movement and a late lead to the development of gross

motor skills in the sector that have occurred since birth. On physical examination:

the joint hands and fingers flexion, rotation left femur and both feet clubfeet

(equinovarus), with IQ scores in 1995 and supported by a history of anamnesis of

pregnancy are smaller than previous pregnancies who can lead to suspicion of

abnormalities oligohidramnion , which is one of the etiologic incidence of AMC.

Pengelolaan

Arthrogryposis management has not met that gives a perfect result, so the

final result is expected as a "goal" of this disorder pengelolaan adalah achieve the

optimal capability of the resistance movement to the upper extremities or lower in

order to be able to release the dependency patients to others in day-care activities

days. Management of early form of manipulation of the movement of joints

immediately after birth can increase the area of joint movement (range of motion,

ROM), passive or active, of a delay in the management of this disorder will

continue to yield less and less profitable.4 Physiotherapy is immediately

conducted to train an experienced joint contractures motion is one of the most

important factor in order to improve movement of joints and prevent the

24

occurrence of muscle atrophy progresses, the recurrence of resistance often occurs

after stretching the joints that experienced kelaianan, so it can be indicated for

surgery.4

Physiotherapy management include flexibility training (stretching),

including casting, fitting splint on the joint problem, train the muscle strength and

motion exercises performed to improve flexion and extensive movement of

motion (ROM) which aims to improve mobility. During the preschool period,

capabilities and constraints of limb function depends on its degree of severity of

disease. Poorly functioning upper limb caused by muscle contractures and limited

strength in children with arthrogryposis will affect the ability to feed themselves,

dress and play. The ultimate goal of therapy at this age is to reduce disability and

improve independent mobility with minimal tools.13 Deflexion (stretching) and

broad management of motion (ROM) is adequate at this age will help the ability

to dress, fitting splint yan will continuously maintain the desired position, muscle

strength training (strengthening), such as light weight lifting exercises, can be

customized for groups this age.13 While the school-age children and adolescents,

children with the AMC should be able to take care of yourself and exercise

program so that its ability to develop optimally, while family support is needed, so

children can be more independent. ROM management in a sustainable manner

should be the focus for children with AMC still may lose the ability if the exercise

sagging movement (stretching) does not proceed in line with increasing age.

In that case, at the age of eight months of the installation done by a doctor

gypsum Orthopaedic Surgery at his feet for the management CTEV, passed

25

through an adjustment as much as 8x in 6 months which eventually recommended

surgery for the correction on both feet. At the age of 14 months, performed

surgery on Achilles tendon physiotherapy followed for two years at the private

hospital. Because children are still not able to walk, then to a hospital for

treatment Kariadi. When you first come to relocate the child can only be "shuffle",

difficulty in holding their own drinking bottles and the difficulties raised both

arms over his head.

Medical rehabilitation program begins with educating parents about the

disorder suffered by her son and programs to be executed, which requires

cooperation and sustainable. Children in therapy programs for medical

rehabilitation 2x/minggu hogging programs (stretching) the stiff joints, joint

exercises broad movement (ROM) and strength train the entire extremity, fine

motor movement training by providing courses malatih insert / create a string of

beads and train holding stationery done at home. Motivation to always use a shoe

correction still be given, conducted the installation of a rehabilitation program

splints on both wrists when the ROM on his wrist has been optimized in order to

keep the flexibility and broad movements in the wrist joints remain intact so that

children can be independent in eating and drinking, dress , and nurture yourself.

Speech Ability

Speech development (speech) and language (language) in children is a

dynamic process. Talking is a mechanical process and oral communication, while

speaking more towards understanding, process and generate the communication

itself. In most books the term used for expressive auditory aspects of speech and

26

auditory reseptive for aspects of language comprehension. Prevalence of speech

and language delays in children aged 2-5 years ranged from 5% - 8%, while

keretelambatan speaking only about 2.3% - 19%.18 Speech delay (delay speaking)

is a series of normal language learning, but with a slower speed than the

achievements (milestones) that should be. , Speech delay is a neurodevelopmental

disorder most often found in early childhood with a prevalence of around 6%.

In that case, it is known of a delay in speech development screening when

performed when he first came up with ELM examination showed age-appropriate

assessment of the ability of children ages 21 months to 34 months when children

are checked. Programmed speech therapy along with occupational therapy

conducted two times a week. In addition to speech therapy program, it is

advisable also to the families at home in order to always provide stimulation and

had spoken to him or to give the questions who only require a simple answer.

Visual and verbal stimulation in early child development is an important

early stimulation, because it may cause expressive traits such as raised eyebrows,

open mouth and eyes like the expression of amazement. Also children will also

require tactile stimulation, lack of tactile stimulation can lead to distortions of

social behavior, emotional and motor. Attention and affection is also a necessary

stimulation of children, for example by talking, caressing, kissing, playing. This

stimulation will lead to a sense of security and confidence in children, so children

will be more responsive to its environment and more developed.19

Independence Care

27

General purpose does this intervention in children is so that every child

can meet the basic needs and care for themselves by reducing dependence on both

parents according to the abilities of children his age, early intervention does still

encountered a lack of ability to grasp and the extensive movement of the joints on

both hand, which at the end of the observations of increased capacity and broad

grasp of motion can be characterized by drinking without the help of parents

either by glass or bottle, holding the spoon and hold a stock of stationery for the

children can attend school.

Medical and Social Psychology

Children who experience “ketunaan” have various obstacles and

abnormalities in physical and psychological conditions that affect growth and

development of behavior and life. Fundamental problem for exceptional children,

usually characterized by its behavior when doing activities together with normal

children in general. For example, when they interact face a number of difficulties

both in physical activity, psychological and social.

Viewed from a psychological aspect, tuna proper child does tend to feel

apathy, shame, inferiority complex, sensitive and sometimes also appear selfish

attitude towards the environment. Circumstances such as these affect the ability in

terms of socialization and social interaction to the surrounding environment or in

daily interactions. In that case, since the beginning of children already in

konsulkan into the psychology to determine the child's IQ score associated with

the diagnosis of AMC is part of a particular syndrome or disorder because of

28

intrauterine movement, IQ assessment done on the treatment of 4th month in the

months where previously been performed approaches or interventions in the field

of psychology. AMC is accompanied by an abnormal IQ scores is suspect is part

of the disorder of a particular syndrome. Child's IQ score was in the normal range

at 95 points (90-109).

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PROGNOSIS

Arthrogryposis is a disorder that is not progressive, bottlenecks in the

mobilization of joints due to joint contractures can be minimized by continuing

physiotherapy. Prognosis depends on each individual who is affected by how

many joints are experiencing contractures. In some severe cases death can occur

suddenly of respiratory failure, especially in cases involving the central nervous

system which will meningggal at the age of the first year.4,12,20 AMC sufferers can

become mature, active and socialize with the environment in accordance with the

capability to support psychologically from the environment surrounding

especially in families so that children can receive physical limitations that are

owned and can lead to advantages on the other side.21 With increasing age, the

condition of the four extremities more easily than other people have problems that

normally arise when a secondary disorder that is not a process of

arthrogryposisnya own circumstances, especially when not supported by the

supporting conditions (excess weight) .23 In general, patients with distal

arthrogryposis clinically better after receiving physiotherapy management and

underwent corrective surgery on the joints that experienced severe contractures.22

Prognosis in this case is:

Ad Vitam: ad Bonam

Ad Sanam: dubia

Ad Fungsionam: dubia ad malam

30

CHARTS ISSUES

Child ♂ 3 years 2 months, whight 9.7 Kg, height 84.3 cm, headcircumference 48.6 cm with

Arthrogryposis Multiplex Congenita Distal, Agenesis Metacarpal Sinistra et DextraDevelopmental Delayed

Had undergone: - CTEV correction with 8times gips andsurgery

31

References

1. Oberoi GS, Kaul H.L., Gill IS, Batra RK. Anaesthesia in arthrogryposis

multiplex congenita: case report. Can. J. Anaesth [serial online] 1987;34(3):23-

27.

Available from: URL:http://www.cja-jca.org/cgi/reprint/34/3/288

2. Chen H. Arthrogryposis. Dalam: Bowman J, Windle Mary L, Youssoufian H,

Petry Paul D, Beuhler B, editors. [online] 2007 Aug 8 [cited 2009 Mar 6];

Available from: http://emedicine.medscape.com/article/941917-overview

3. The Merck Manuals Medical Library. Arthrogryposis multiplex congenital.

[online][2005?][cited 2009 Mar 6]. Available from:

http://www.merck.com/mmpe/sec19/ch288/ch288b.html

4. Fenichel Gerald M. Hypotonia, arthrogryposis, and rigidity. In: Fenichel Gerald

M, editor. Neonatal Neurology. Fourth Edition. Philadelphia: Churchill

Livingstone Elsevier.2007:37-69. E-Book, available from:

http://books.google.co.id/books?

id=pcohnF3AJ6AC&printsec=frontcover#v=onepage&q=&f=false

5. Brown L.M, Robson M.J, Sharrard W.J. The phatophysiology of arthrogryposis

multiplex cengenita neurologica. The Journal of Bone and Joint Surgery [serial

online] 1980 August [cited 2009 Feb];62-B(3):291-96. Available from:

http://www.jbjs.org.uk/cgi/reprint/62-B/3/291

6. Patient UK. Arthrogryposis multiplex congenital.

Available from: http://www.patient.co.uk/showdoc/40001940/#notes

7. Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of

arthrogryposis: the potential for good outcome. Pediatrics [serial online] 1996

[cited 2008 Dec];97:225-31. Availeble from:

http://web.ebscohost.com/ehost/viewarticle?

data=dGJyMPPp44rp2%2fdV0%2bnjisfk5Ie45PFIrqm2Sa

%2bk63nn5Kx95uXxjL6nrkevpq1Krqa3OK

%2bwrkm4p644v8OkjPDX7Ivf2fKB7eTnfLujs0i1rK9KrqexPurX7H

%2b72%2bw

%2b4ti7e7bepIzf3btZzJzfhruorki3rrJRs6i3PuTl8IXf6ruI4tzEjeri0n326gAA&hid

=108

Masih ditemukan gangguan tumbuh kembang:-DDST II, keterlambatan di seluruh sektor terutama motorik kasar-ELM sesuai usia 1 tahun 9 bulan

Pemantauan Tumbuh kembang - Pertumbuhan : Flat growth (usia 3 th 5 bln – 3 th 6 bln) Loss of growth (usia 3 th 9 bln)

Short Stature (HAZ < - 3SD)- Perkembangan : personal sosial, motorik halus, bahasa sesuai umur motorik kasar sesuai umur 2 th- Morbiditas : Gangguan pada saluran respiratorik (ISPA), anemia defisiensi besi

Rehabilitatif:- Stimulasi- Fisioterapi

Promotif:- Psikologi- Edukasi diet- Kasih sayang- Stimulasi/interaksi

sosial- Asuh- Asih- Asah

Preventif:- Psikologi- Pemantauan

pertumbuhan (WHO anthro ) & perkembangan (Denver II)- Pemantauan defisit

ROM - Imunisasi booster- Nutrisi

Pendidikan:- Sekolah khusus

Optimal Growth

Program :-DDST II, ELM scale II-Pemantauan anthropometri-Fisioterapi (ROM)-Pengelolaan penyakit penyerta

32

8. Alfonso I, Papazian O, Paez JC, Groosman John A.I. Arthrogryposis multiplex

congenital. Int Pediatr. [serial online] 2000 [cited 2008 Dec];15(4):197-204.

Available from: http://int-pediatrics.org/PDF/Volume%2015/15-4/alfonso.pdf

9. Blachford Stacey L. Arthrogryposis multiplex congenital. In: Blachford Stacey L

(editor). The Gale Encyclopedia of Genetic Disorders. Vol.1. Farmington Hill:

Gale Group. 2002:104-7.

10. Donohoe M, Bleakney DA. Arthrogryposis Multiplex Congenita. In: Campbell

SK. Physical Therapy for Children. USA: W.B. Saunders Company;1995: 261-

76.

11. Hall JG. Arthrogryposes (Multiple Congenital Contractures). In: Rimoin DL.

Principles and Practice of Medical Genetics 4 th ed. London: Churchill

Livingstone;2002: 4182-235

12. Katherine S, Gale Thomson. Distal arthrogryposis syndrome. Available from:

http://www.healthline.com/galecontent/distal-arthrogryposis-syndrome-1

13. Madal R, Tuysus B, Aksoy F, Barbaros M, Uluda S, Ocak V. Prenatal diagnosis

of arthrogryposis multiplex congenita with increased nuchtal translucency but

without any underlying fetal neurogenic or myogenic pathology. Fetal Diagn

Ther [serial online] 2002 [cited 2008 Dec];17:29-33 (Abstract). Available from:

http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=fdt17029

14. The Merck Manual. Arthrogryposis multiplex congenital (multiple congenital

contractures). [Online]. 2005 November [cited 2008 Mar];

Available from: http://www.merck.com/mmpe/sec19/ch288/ch288b.html

15. Screening for Speech and Language Delay in Preschool Children:

Recommendation Statement, US Preventive Services Task Force. Pediatrics

2006;117(2):497-501.

Available from: http://pediatrics.aappublications.org/cgi/reprint/117/2/497

16. Kelly DP dan Sally JI. Disorder of speech and language. In: Levine MD, Carey

WB and Crocker AC, editor. Developmental-behavior pediatrics. 3rd ed.

Philadelphia: WB. Saunders;621-631

17. Grizzle KL dan Simms MD. Early language development and language learning

disabilities. Pediatrics in Review [serial online] 2005 [cited 2008];26(8):274-83.

Available from:

http://pedsinreview.aappublications.org/cgi/content/full/26/8/274

18. Distal arthrogryposis syndrome. Available from:

33

http://www.healthline.com/galecontent/distal-arthrogryposis-syndrome-1?

print=true

19. Mead Newton G, Lithgow William C, Sweeney Howard J. Arthrogryposis

multiplex congenital. J Bone Joint Surg Am. [serial online] 1958 [cited 2010

Feb];40:1285-1309.

Available from: http://www.ejbjs.org/cgi/reprint/40/6/1285.pdf

34

35

36

1 Hall JG. Genetic aspects of arthrogryposis. Clin. Orthop Relat Res [serial online] 1985 April [cited 2010 January];(1940:44-53.Available from: URL:2 Hall JG.Arthrogryposis multiplex congenital: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B [serial online] 1997 July [cited 2010 January];6(30:159-66.Available from: URL:3 Oberoi GS, Kaul H.L., Gill IS, Batra RK. Anaesthesia in arthrogryposis multiplex congenita: case report. Can. J. Anaesth [serial online] 1987;34(3):23-27. Available from: URL:http://www.cja-jca.org/cgi/reprint/34/3/288

4 Chen H. Arthrogryposis. Dalam: Bowman J, Windle Mary L, Youssoufian H, Petry Paul D, Buehler B, editors. [Online]. 2007 Aug 8 [cited 2009 Mar 6]; Available from: URL:http://emedicine.medscape.com/article/941917-overview

5 The Merck Manuals Medical Library. Arthrogryposis multiplex congenital. [online][2005?][cited 2009 Mar 6]; Available from: URL: http://www.merck.com/mmpe/sec19/ch288/ch288b.html

6 Soetjiningsih. Tumbuh kembang anak. Dalam: Ranuh IG, penyunting. Tumbuh kembang anak. EGC, Surabaya 1995.7 Fenichel Gerald M. Hypotonia, arthrogryposis, and rigidity. In: Fenichel Gerald M, editor. Neonatal Neurology. Fourth Edition. Philadelphia: Churchill Livingstone Elsevier. 2007. 37-69.E-Book, available from: http://books.google.co.id/books?id=pcohnF3AJ6AC&printsec=frontcover#v=onepage&q=&f=false8 Brown L.M, Robson M.J, Sharrard W.J. The phatophysiology of arthrogryposis multiplex cengenita neurologica. The Journal of Bone and Joint Surgery [serial online] 1980 August [cited 2009 Feb];62-B(3): 291-96. Available from: URL: http://www.jbjs.org.uk/cgi/reprint/62-B/3/291

9 Patient UK. Arthrogryposis multiplex congenital. Available from: http://www.patient.co.uk/showdoc/40001940/#notes

10 Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. Pediatrics [serial online] 1996 [cited 2008 Dec];97:225-31.Availeble from: http://web.ebscohost.com/ehost/viewarticle?data=dGJyMPPp44rp2%2fdV0%2bnjisfk5Ie45PFIrqm2Sa%2bk63nn5Kx95uXxjL6nrkevpq1Krqa3OK%2bwrkm4p644v8OkjPDX7Ivf2fKB7eTnfLujs0i1rK9KrqexPurX7H%2b72%2bw%2b4ti7e7bepIzf3btZzJzfhruorki3rrJRs6i3PuTl8IXf6ruI4tzEjeri0n326gAA&hid=108

11 Alfonso I, Papazian O, Paez JC, Groosman John A.I. Arthrogryposis multiplex congenital. Int Pediatr. [serial online] 2000 [cited 2008 Dec];15(4):197-204.Available from: http://int-pediatrics.org/PDF/Volume%2015/15-4/alfonso.pdf

12 Blachford Stacey L. Arthrogryposis multiplex congenital. In: Blachford Stacey L (editor). The Gale Encyclopedia of Genetic Disorders. Vol 1, Farmington Hill: Gale Group. 2002. 104-7.E-Book, available from: www.doctors.am/.../The_Gale_Encyclopedia_of_Genetic_Disorders_b6eb28f0903273aae433eced6c28cff3.pdf

13 Donohoe M, Bleakney DA. Arthrogryposis Multiplex Congenita. In: Campbell SK. Physical Therapy for Children, W.B. Saunders Company, USA, 1995: 261-76.

14 Hall JG. Arthrogryposes (Multiple Congenital Contractures). In: Rimoin DL. Principles and Practice of Medical Genetics, 4th ed, Churchill Livingstone, London, 2002: 4182-4235.

15 Katherine S, Gale Thomson. Distal arthrogryposis syndrome. Available from: http://www.healthline.com/galecontent/distal-arthrogryposis-syndrome-116 Madal R, Tuysus B, Aksoy F, Barbaros M, Uluda S, Ocak V. Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchtal translucency but without any underlying fetal neurogenic or myogenic pathology. Fetal Diagn Ther [serial online] 2002 [cited 2008 Dec];17:29-33Available from: http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=fdt1702917 The Merck Manual. Arthrogryposis multiplex congenital (multiple congenital contractures). [Online]. 2005 November [cited 2008 Mar]; Available from: http://www.merck.com/mmpe/sec19/ch288/ch288b.html18Screening for Speech and Language Delay in Preschool Children: Recommendation Statement, US Preventive Services Task Force. Pediatrics 2006;117(2):497-501

19 Kania Nia. Stimulasi tumbuh kembang anak untuk mencapai tumbuh kembang optimal. Dalam: Seminar “Stimulasi Tumbuh Kembang Anak”. Bandung, 11 Maret 2006.20 Distal arthrogryposis syndrome. Available from: http://www.healthline.com/galecontent/distal-arthrogryposis-syndrome-1?print=true21 Mead Newton G, Lithgow William C, Sweeney Howard J. Arthrogryposis multiplex congenital. J Bone Joint Surg Am [serial online] 1958 [cited 2010 Feb];40:1285-1309.Available from: www.ejbjs.org/cgi/reprint/40/6/1285.pdf