Deterrence/Prevention
See the list below:
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See Special Concerns for information regarding genetic counseling and prenatal diagnosis in cri-du-chat syndrome.
Prognosis
See the list below:
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After the first years of life, the mortality (10%) and morbidity rates are low. About 75% of deaths occurred during the first months of life, and as many as 90% occurred within the first year.
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Recent improvements in management and rehabilitation programs have resulted in increased psychomotor development, improved autonomy, and better social adaptation.
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Until recently, little was known about the cognitive function of patients with cri-du-chat syndrome. Recent literature indicates that many children can develop some language and motor skills. These children attain the developmental and social skills commonly observed in children aged 5-6 years, although their linguistic abilities are seldom as advanced. Older, home-reared children are usually ambulatory, able to communicate verbally or through sign language, and independent in self-care skills.
Patient Education
See the list below:
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Families are greatly affected. The main contributor to increased family stress is the child's maladaptive behavior. However, these families also receive social support from other families, friends, and concerned professionals. Up-to-date information about the syndrome and other resources should be made available. The following sources of information are available:
PO Box 8923
New Fairfield, CT 06812-8923
Phone: 800-999-6673
Fax: 203-746-6481
E-mail: orphan@nord-rdb.com
5p- Society
7108 Katella Avenue #502
Stanton, CA 90680
Phone: 714-901-1544
E-mail: fivepminus@aol.com
PO Box 724
Boca Raton, FL 33429-0724
Phone: 888-CDO-6880
E-mail: cdo@worldnet.att.net
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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)].
