Cri du chat syndrome

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Cri du chat syndrome

The name of the syndrome is in French meaning ‘cry of the cat’ which is a distinctive feature of children with this disorder. Children especially below the age of 2 years, have this shrill cry due to an underdeveloped larynx. As the child grows, the larynx grows and the distinctive cry gets better. It occurs in approximately 1: 35000 live births.

Features

  1. Babies are small at birth
  2. Presence of respiratory difficulties
  3. Under developed larynx at birth
  4. Distinctive facial features – Small head ( microcephaly), unusually round face, small chin, widely set eyes, folds of skin over the eyes, small nasal bridge
  5. Heart defects
  6. Low birth weight
  7. Low muscle tone
  8. Muscular and skeletal problems
  9. Vision problems
  10. Hearing loss
  11. Difficulty in walking and talking when  children grow up
  12. Behaviour problems (hyperactivity and aggression). Some children are dual diagnosed with ADHD ( Attention Deficit Hyperactivity Disorder)
  13. Intellectual disability

Causes

Cri-du-chat syndrome is caused by a deletion on the short arm of chromosome 5. Multiple genes are missing as a result of this deletion, and each may contribute to the symptoms of the disorder. One of the deleted genes is TERT (telomerase reverse transcriptase). This gene is important during cell divisions as it helps to keep the tips of chromosomes (telomeres) intact.

Speech and Language Characteristics

Language – Delayed and deviant language is common. Some children learn to express in words while some others are non verbal. Children have poor vocabulary growth and faulty sentence structure. Mental abilities and cognivite skills of these children considerably influence how well they learn to communicate.

Articulation – Misarticualtions are common when there are malocclusions and dental problems. Also chidren who have hearing loss may exhibit misarticulations.

Problem behaviors such as hitting, pinching, kicking and biting that are associated with the syndrome also come in the way of communication. Difficulties also include over activity, restlessness, impulsiveness, inattentiveness and distractibility.

Intervention

Early intervention with a team approach by speech therapists, physiotherapists and occupational therapists is the key ahead.

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