Medical Care
Care is supportive. No specific treatment is available for cri-du-chat syndrome. [4]
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. [22]
A study by Guala et al found that individuals with cri-du-chat syndrome appear to benefit from intervention with an educational program developed for such patients. Parents reported social skill improvement in patients who underwent the program, although no differences were found between these patients and those not exposed to the program when analyzed using the Denver Developmental Screening Test II. [23]
Surgical Care
See the list below:
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Correction of congenital heart defects may be indicated. Medical problems involving minor malformations such as strabismus and clubfoot may be amenable to surgical correction. Orchiopexy may be necessary in patients with undescended testes.
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Issues important to anesthetic plan include the following:
Anatomical abnormalities of the airway
Congenital heart disease
Hypotonia
Mental retardation
Temperature maintenance
Consultations
See the list below:
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Clinical geneticist
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Developmental pediatrician
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Neurologist
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Cardiologist
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Ophthalmologist
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Dentist
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Orthopedist
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Psychologist
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Physical and occupational therapist
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Speech language pathologist
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Audiologist
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Urologist
Diet
See the list below:
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No special diet is required.
Activity
See the list below:
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Activities are limited in patients with profound mental retardation and physical limitations.
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Infant with cri-du-chat syndrome. Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears.
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Child with cri-du-chat syndrome. Note the hypertonicity, small and narrow face, dropped jaw, and open-mouth expression secondary to facial laxity.
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Fluorescent in situ hybridization (FISH) study of a patient with cri-du-chat syndrome. FISH photograph shows deletion of a locus-specific probe for the cri-du-chat region. Spectrum orange color represents chromosome 5–specific signal and spectrum green is cri-du-chat locus signal. Absence of a green signal indicates monosomy for that region (left, interphase cell; right, metaphase chromosome spread).
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G-banded karyotype [46,XX,del(5)(p13)].
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G-banded karyotype of a carrier father [46,XY,t(5;17)(p13.3;p13)].
