Cri-du-chat syndrome

• 5p-
• Deletion of 5p
• Chromosome 5p deletion syndrome
• 5p minus deletion syndrome1
• Cat cry syndrome1

• 758.31 Cri-du-chat syndrome

• Q93.4 Deletion of short arm of chromosome 5

• 5C: Impaired motor function and sensory integrity associated with nonprogressive disorders of the central nervous system—congenital origin or acquired in infancy or childhood2

Description

• Genetic disorder: deletion of terminal chromosome 5p
  • Cry that sounds like a cat (likely due to abnormal shape in larynx and epiglottis)3
  • Characteristic facial features3
  • Developmental delay in gross motor skills, oral motor skills, and speech and/or language skills

Essentials of Diagnosis

• Abnormality of chromosome 5 with deletion of short arm

General Considerations

• Associated disorders
  • Scoliosis3
  • Diastasis rectii4
  • Cataracts
  • Abnormalities in organs3

Demographics

• 1 in 20,000-50,000 births5
• More common in females than males6

Signs and Symptoms

• High pitched, cat-like cry
• Feeding difficulties6
• Hypotonia3
• Microcephaly3
• Micrognathia3
• Failure to thrive4
• Delays in
  • Gross motor skills
  • Oral motor skills7
  • Speech and/or language skills7
• Cognitive/Intellectual disability
• Stereotypic movements6
• Behavioral issues6
• Hyperacusis6

Functional Implications

• Poor head control as infant
• Poor trunk control; delay in sitting independently
• Late walking
• Cognitive impairment3
• 50% are hyperactive3

Possible Contributing Causes

• Defect in either the egg or sperm1

Differential Diagnosis

• Patau syndrome6
• Wolf-Hischhorn syndrome6

Laboratory Tests

• DNA analysis3

Imaging

• Skeletal radiographs for microcephaly and short metacarpals6
• MRI to assess for atrophy6
• Echocardiography to rule out cardiac defects6
• Barium swallow study6

• Organ anomalies
  • Ventricular septal defect8

• Geneticist
• Ophthalmologist for possible cataracts
• Orthopedics for possible scoliosis or pes planus
• Neurology
• Occupational therapy
• Speech therapy

• Decreased strength
• Poor head control
• Poor trunk control

• Bayley Scales of Motor Development or Bayley II
• Peabody Scales of Motor Development
• Movement Assessment of Infants
• Neonatal Behavioral Assessment Scale
• Early Intervention Developmental Profile
• Test of Infant Motor Performance
• Alberta Infant Motor Scale

• Behavior modification
• Developmental activities
  • Facilitation of normal movement patterns
  • Acquisition of motor milestones through facilitation
• Therapeutic exercise
  • Strengthening
  • Balance training
  • Coordination tasks
• Recommendations for adaptive equipment as needed

• Sustain prone on elbows with 45° cervical extension for 30 to 60 seconds independently within 3 months
• Brings hands to midline to reach for a toy when in supine within 1 month
• Sits for 15 to 30 seconds while propping with hands on the floor within 6 ...