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).
29
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