The Cat Cry Syndrome (Cri du Chat French) or Lejeune syndrome is a rare congenital disease with chromosomal abnormality caused by a type of structural deletion of part or all of the short arm of chromosome 5, characterized by a cry which resembles the mewing of a cat and which is updated over time.
meow syndrome was first described by Lejeune in 1963. It has an estimated prevalence of approximately 1/20.000-50.000 birth and predominates in girls. Concept
The process is always given at conception. The victim usually presents with intrauterine growth retardation low birth weight and characteristic cry that reminds the cat meow for laryngomalacia with hypoplasia of the epiglottis and relaxation of the aryepiglottic folds. The voice feature of the neonatal period disappears in older patients. Predominant in girls, and birth usually call attention to the size of the skull, which contrasts with the round face and full. The result of the anomaly depends on what happens with the fragments, producing, in all cases, a mental disorder. In 85-90% of cases, the syndrome occurs by deletion or translocation, which occurred in the same patient. In the remaining 10-15%, is inherited from their parents. According to sources ASIMAGA (National Association of People Affected by the Cri du chat syndrome), the number of patients will be around 65 - 70 cases worldwide.
Children develop slowly and remain far behind in terms of static and psychomotor. With increasing age this increases the delay of intellectual abilities.
The prognosis is related to associated malformations and psychomotor retardation. In those affected, as the signs meet the new curiosity, a desire to communicate what they learned, interest in the rules of coexistence, interaction of their experiences personal attitudes are highly valued for their prognosis, regardless of their real potential.
Diagnosis The diagnosis should always be physician. Even if clinical signs are not relevant, chromosome analysis provide decisive data. These statements usually appear altered in the first affected, although there have been reports of transmission between parents and children.
Causes, incidence and risk factors
The cause of the Cri du chat syndrome is deletion of some information on chromosome 5. It is likely that multiple genes are deleted on chromosome. One of the genes abolished called telomerase reverse transcriptase (TERT, for its acronym in English) is committed to the control of cell growth and may play a role in how they develop some of the features of this syndrome. The cause of this rare chromosomal deletion is unknown, but it is believed that most cases are due to spontaneous loss of part of chromosome 5 during development of an egg or sperm. A minority of these cases is that one parent is a carrier of a reorganization of chromosome 5 called a translocation.
Between 1 in 20,000 to 1 in 50,000 babies are affected by this syndrome may be responsible for up 1% of cases of severe mental retardation. Children with Cat Cry syndrome commonly have a characteristic similar to the mewing cry of this animal and also a large group of anomalies which mental retardation is the most important. Symptoms
high-pitched crying like a cat (this is because the name of the syndrome)
The face is usually round, full and often chubby ("moon face"). The mouth usually has a characteristic pout, with the palate high and steep.
low birth weight and slow growth.
small head (microcephaly). Eyes
apart (hypertelorism).
Eyes tilt down (palpebral fissures).
myopia and optic atrophy. Quijada
small (micrognathia).
low-set ears (may be malformed).
skin tags in front of the ear.
The root of the nose is depressed.
Fingers and toes partially webbed. (Partial syndactyly).
A single crease on the palm (simian crease) and dermatoglyphics are altered. Thumb
argued inland.
Slow or incomplete development of motor skills.
mental retardation.
Abnormal development of the glottis and larynx, this has meant that the crying of babies resembles the mewing of a cat, hence its name.
Delayed ossification.
Low muscle tone.
epicanthal folds (an extra fold of skin on the corner of your eye).
abnormally folded external ears or incomplete.
A karyotype (chromosome analysis) must show that lack a portion of the short arm of chromosome 5, otherwise, a more detailed type of genetic testing (FISH analysis) can reveal the lack of a small portion of this chromosome. Congenital heart disease
casual, common atrioventricular, transposition of great vessels, patent ductus arteriosus and pulmonary stenosis.
Neck short and ordinary.
lip and palate.
dental malocclusion.
inguinal hernia.
hypogenitalism and cryptorchidism.
rectal diastasis (separated abdominal muscles).
Absence of spleen and kidney.
A lateral skull radiograph may show an abnormal angle to the base.
Scoliosis. Clubfoot
.
flat feet.
Congenital dislocation of hips.
small iliac blades.
small metacarpals and metatarsals.
ligamentous laxity.
gastrointestinal malformations. Premature graying
.
cerebral atrophy.
Hydrocephalus. (1-17)
The condition is more or less depending on the size portion of chromosome loss. Clinical
Low birth weight: about 2 kg. Crying
characteristic slow growth: Differential characteristics of the sound of babies crying over normal or other alterations. The height of the cry sound is more or less than one octave above the corresponding to healthy infants (600-900 Hz fundamental frequency, instead of 200-550 Hz) but may rise in some circumstances an octave. Crying in the syndrome Cri-du-chat is predominantly monotonous with a pitch that can remain unchanged for a few seconds and, therefore, marked poverty of expression. The affected child can only mourn that way regardless of whether you get cold or hungry, feel pain or irritable. Another difference is that the cry of a healthy baby or other disturbance has a maximum duration of three seconds at the Cri-du-chat, is extended to five seconds. With age, this feature is maintained even diminish its character. (2,8,10) reduced head circumference
Mental retardation hypotonia
behavioral characteristics [edit] Marked sense of humor.
Loving and very affectionate.
fear of certain objects. Shy
.
challenging behaviors.
aggression and self-harm: scratching, head banging, biting wrists. Alterations to psychophysical level
: dysfunction in movement coordination, reflexes and posture, delay in organization of the senses, feelings, perceptions in the cognitive and mainly in communication and language. Their behavior improves dramatically when you teach alternative communication systems: signs, pictures, pictograms ... etc.) and drug treatment. Evolution
syndrome Years ago it was common to place children with 5p-in institutions along with other children with severe intellectual disabilities. During the eighties the investigation revealed that when children were reared in a family environment, where they benefited from early intervention programs, had exceeded its important achievements, in much the expectations of doctors who had made initial diagnoses.
Both children and adults with this syndrome are generally friendly and enjoy social interaction. With early and consistent education and proper physical and speech therapy, children with 5p-syndrome reach their potential and can have a full and meaningful life. From 2 to 5 years, children with the syndrome remain round face and short nose, with a lack of tone causes usually have their mouths open. This aspect is modified in adolescence significantly lengthen the face and nasal bridge is prominent. The small jaw causing dental malocclusion bite problems, so early dental treatment addresses many of these problems. Respiratory complications are common and even the ears that need hospitalization. Many parents of affected children include not need much sleep, even newborns. Usually have no developed sense of personal danger and exhibit impulsive behavior and poor trial. The changes at puberty are typical with breast development, onset of menstruation, hair, deep voice ... Half of the children learn sufficient verbal skills to communicate. This syndrome becomes less apparent as time passes. Affected children enjoy interacting with other children, often have good social skills, sense of humor and an exceptional memory. Enjoy playing with other children, often mimic the actions of others being able to participate in social activities (swimming, horseback riding, bowling, etc ...). In terms of school learning, studies are scarce, and indicates that in the case of reaching literacy, this is a beginner level. Complications
The Complications depend on the degree of mental retardation and physical abnormalities.
Inability to care for itself.
Inability to function socially.
life expectancy can not be assessed with certainty, but adult cases are described with few cases of death. The most serious problems are due to heart defects and respiratory complications.
This diagnosis is usually made at birth in the hospital where the doctor will discuss the findings with parents. It is important to maintain a permanently from contact with the doctor and other professionals in health care after the baby is that of discharge. All families with a history of this syndrome are advised to have genetic counseling and testing. Broad
learning activities that will always have a playful, attractive materials.
Calm and relaxed. Search
periods where the child is more receptive.
The presentation of activities will gradually: from simple to complicated.
build on the child's motivation, we should not force it. Letting
trial and error.
Offering the opportunity to play freely. Respect
learning times.
take into account the different rates of acquisition of learning.
meow syndrome was first described by Lejeune in 1963. It has an estimated prevalence of approximately 1/20.000-50.000 birth and predominates in girls. Concept
The process is always given at conception. The victim usually presents with intrauterine growth retardation low birth weight and characteristic cry that reminds the cat meow for laryngomalacia with hypoplasia of the epiglottis and relaxation of the aryepiglottic folds. The voice feature of the neonatal period disappears in older patients. Predominant in girls, and birth usually call attention to the size of the skull, which contrasts with the round face and full. The result of the anomaly depends on what happens with the fragments, producing, in all cases, a mental disorder. In 85-90% of cases, the syndrome occurs by deletion or translocation, which occurred in the same patient. In the remaining 10-15%, is inherited from their parents. According to sources ASIMAGA (National Association of People Affected by the Cri du chat syndrome), the number of patients will be around 65 - 70 cases worldwide.
Children develop slowly and remain far behind in terms of static and psychomotor. With increasing age this increases the delay of intellectual abilities.
The prognosis is related to associated malformations and psychomotor retardation. In those affected, as the signs meet the new curiosity, a desire to communicate what they learned, interest in the rules of coexistence, interaction of their experiences personal attitudes are highly valued for their prognosis, regardless of their real potential.
Diagnosis The diagnosis should always be physician. Even if clinical signs are not relevant, chromosome analysis provide decisive data. These statements usually appear altered in the first affected, although there have been reports of transmission between parents and children.
Causes, incidence and risk factors
The cause of the Cri du chat syndrome is deletion of some information on chromosome 5. It is likely that multiple genes are deleted on chromosome. One of the genes abolished called telomerase reverse transcriptase (TERT, for its acronym in English) is committed to the control of cell growth and may play a role in how they develop some of the features of this syndrome. The cause of this rare chromosomal deletion is unknown, but it is believed that most cases are due to spontaneous loss of part of chromosome 5 during development of an egg or sperm. A minority of these cases is that one parent is a carrier of a reorganization of chromosome 5 called a translocation.
Between 1 in 20,000 to 1 in 50,000 babies are affected by this syndrome may be responsible for up 1% of cases of severe mental retardation. Children with Cat Cry syndrome commonly have a characteristic similar to the mewing cry of this animal and also a large group of anomalies which mental retardation is the most important. Symptoms
high-pitched crying like a cat (this is because the name of the syndrome)
The face is usually round, full and often chubby ("moon face"). The mouth usually has a characteristic pout, with the palate high and steep.
low birth weight and slow growth.
small head (microcephaly). Eyes
apart (hypertelorism).
Eyes tilt down (palpebral fissures).
myopia and optic atrophy. Quijada
small (micrognathia).
low-set ears (may be malformed).
skin tags in front of the ear.
The root of the nose is depressed.
Fingers and toes partially webbed. (Partial syndactyly).
A single crease on the palm (simian crease) and dermatoglyphics are altered. Thumb
argued inland.
Slow or incomplete development of motor skills.
mental retardation.
Abnormal development of the glottis and larynx, this has meant that the crying of babies resembles the mewing of a cat, hence its name.
Delayed ossification.
Low muscle tone.
epicanthal folds (an extra fold of skin on the corner of your eye).
abnormally folded external ears or incomplete.
A karyotype (chromosome analysis) must show that lack a portion of the short arm of chromosome 5, otherwise, a more detailed type of genetic testing (FISH analysis) can reveal the lack of a small portion of this chromosome. Congenital heart disease
casual, common atrioventricular, transposition of great vessels, patent ductus arteriosus and pulmonary stenosis.
Neck short and ordinary.
lip and palate.
dental malocclusion.
inguinal hernia.
hypogenitalism and cryptorchidism.
rectal diastasis (separated abdominal muscles).
Absence of spleen and kidney.
A lateral skull radiograph may show an abnormal angle to the base.
Scoliosis. Clubfoot
.
flat feet.
Congenital dislocation of hips.
small iliac blades.
small metacarpals and metatarsals.
ligamentous laxity.
gastrointestinal malformations. Premature graying
.
cerebral atrophy.
Hydrocephalus. (1-17)
The condition is more or less depending on the size portion of chromosome loss. Clinical
Low birth weight: about 2 kg. Crying
characteristic slow growth: Differential characteristics of the sound of babies crying over normal or other alterations. The height of the cry sound is more or less than one octave above the corresponding to healthy infants (600-900 Hz fundamental frequency, instead of 200-550 Hz) but may rise in some circumstances an octave. Crying in the syndrome Cri-du-chat is predominantly monotonous with a pitch that can remain unchanged for a few seconds and, therefore, marked poverty of expression. The affected child can only mourn that way regardless of whether you get cold or hungry, feel pain or irritable. Another difference is that the cry of a healthy baby or other disturbance has a maximum duration of three seconds at the Cri-du-chat, is extended to five seconds. With age, this feature is maintained even diminish its character. (2,8,10) reduced head circumference
Mental retardation hypotonia
behavioral characteristics [edit] Marked sense of humor.
Loving and very affectionate.
fear of certain objects. Shy
.
challenging behaviors.
aggression and self-harm: scratching, head banging, biting wrists. Alterations to psychophysical level
: dysfunction in movement coordination, reflexes and posture, delay in organization of the senses, feelings, perceptions in the cognitive and mainly in communication and language. Their behavior improves dramatically when you teach alternative communication systems: signs, pictures, pictograms ... etc.) and drug treatment. Evolution
syndrome Years ago it was common to place children with 5p-in institutions along with other children with severe intellectual disabilities. During the eighties the investigation revealed that when children were reared in a family environment, where they benefited from early intervention programs, had exceeded its important achievements, in much the expectations of doctors who had made initial diagnoses.
Both children and adults with this syndrome are generally friendly and enjoy social interaction. With early and consistent education and proper physical and speech therapy, children with 5p-syndrome reach their potential and can have a full and meaningful life. From 2 to 5 years, children with the syndrome remain round face and short nose, with a lack of tone causes usually have their mouths open. This aspect is modified in adolescence significantly lengthen the face and nasal bridge is prominent. The small jaw causing dental malocclusion bite problems, so early dental treatment addresses many of these problems. Respiratory complications are common and even the ears that need hospitalization. Many parents of affected children include not need much sleep, even newborns. Usually have no developed sense of personal danger and exhibit impulsive behavior and poor trial. The changes at puberty are typical with breast development, onset of menstruation, hair, deep voice ... Half of the children learn sufficient verbal skills to communicate. This syndrome becomes less apparent as time passes. Affected children enjoy interacting with other children, often have good social skills, sense of humor and an exceptional memory. Enjoy playing with other children, often mimic the actions of others being able to participate in social activities (swimming, horseback riding, bowling, etc ...). In terms of school learning, studies are scarce, and indicates that in the case of reaching literacy, this is a beginner level. Complications
The Complications depend on the degree of mental retardation and physical abnormalities.
Inability to care for itself.
Inability to function socially.
life expectancy can not be assessed with certainty, but adult cases are described with few cases of death. The most serious problems are due to heart defects and respiratory complications.
This diagnosis is usually made at birth in the hospital where the doctor will discuss the findings with parents. It is important to maintain a permanently from contact with the doctor and other professionals in health care after the baby is that of discharge. All families with a history of this syndrome are advised to have genetic counseling and testing. Broad
learning activities that will always have a playful, attractive materials.
Calm and relaxed. Search
periods where the child is more receptive.
The presentation of activities will gradually: from simple to complicated.
build on the child's motivation, we should not force it. Letting
trial and error.
Offering the opportunity to play freely. Respect
learning times.
take into account the different rates of acquisition of learning.
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