Medical Care
Care is supportive. No treatment is available for cri-du-chat syndrome.
Genetic counseling is indicated.
Female patients are fertile and can deliver viable affected offspring, with an estimated recurrence risk of 50%.
Recurrence risk for a de novo case is 1% or less. Rare recurrences in chromosomally healthy parents are probably the result of gonadal mosaicism for the 5p deletion in one of the parents.
If a parent is a balanced carrier of a structural rearrangement, the risk is substantially high. The risk should be assessed based on the type of structural rearrangement and its pattern of segregation.
Chronic medical problems such as upper respiratory tract infections, otitis media, and severe constipation require appropriate treatment.
Use the relatively good receptive skills to encourage language and communicative development rather than relying on traditional verbal methods.
Early stimulation and introduction to sign language are effective means of developing communication skills (50% of children are able to use sign language to communicate).
Behavior modification programs may be successful in managing hyperactivity, short attention span, low threshold for frustration, and self-stimulatory behaviors (eg, head-banging, hand-waving).
Visual-motor coordination computerized training improves the visuospatial performance in a child affected by cri-du-chat syndrome.[14]
Medical Care
Care is supportive. No treatment is available for cri-du-chat syndrome.
Genetic counseling is indicated.
Female patients are fertile and can deliver viable affected offspring, with an estimated recurrence risk of 50%.
Recurrence risk for a de novo case is 1% or less. Rare recurrences in chromosomally healthy parents are probably the result of gonadal mosaicism for the 5p deletion in one of the parents.
If a parent is a balanced carrier of a structural rearrangement, the risk is substantially high. The risk should be assessed based on the type of structural rearrangement and its pattern of segregation.
Chronic medical problems such as upper respiratory tract infections, otitis media, and severe constipation require appropriate treatment.
Use the relatively good receptive skills to encourage language and communicative development rather than relying on traditional verbal methods.
Early stimulation and introduction to sign language are effective means of developing communication skills (50% of children are able to use sign language to communicate).
Behavior modification programs may be successful in managing hyperactivity, short attention span, low threshold for frustration, and self-stimulatory behaviors (eg, head-banging, hand-waving).
Visual-motor coordination computerized training improves the visuospatial performance in a child affected by cri-du-chat syndrome.[14]
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