Favorable evolution after early intense rehabilitation in a case with Cri du chat syndrome


Abstract Title: Favorable evolution after early intense rehabilitation in a case with Cri du chat syndrome
Authors: Dorina Stoicanescu*, Mariana Cevei**
Affiliation: *University of Medicine and Pharmacy “Victor Babes”, Timisoara, Romania
**University of Oradea, Faculty of Medicine and Pharmacy, Medical Rehabilitation Clinical Hospital Baile Felix
Abstract text: Cri-du-chat syndrome is a relatively rare chromosomal disorder with an estimated incidence of 1 in 20000 to 50000 newborns, resulting from losses of varying lengths of the short arm of chromosome 5. We present a case report on the rehabilitation treatment of a subject with this condition, aged 18 months, who received multidisciplinary treatment and precocious stimulation. The baby was born from healthy, young parents, with a birth weight of 2250 g. At examination presented cranio-facial dysmorphy, transverse flexion creases, important growth and psychomotor retardation, axial hypotonia and hypotrophy, bilateral varus equine, positive Babinski sign, lively deep tendinous reflexes, hypertrophic cardiomyopathy, unclosed sagittal and lambdoid sutures. He had a happy aspect, was able to sit and to roll, but was not able to stay in the quadruped position. Rehabilitation program started at 15 months and consisted of hydrokinetotherapy in the pool for 15 minutes each day, physiotherapy for global tonisation, re-education of motor control stages, tonisation of paravertebral, quadriceps, gluteal muscles, paraffin therapy for the legs, cervico-dorso-lumbar and leg tonic massage. Occupational therapy, coordination exercises and speech therapy were also performed. The evolution of the case was very good; he was able to stand with assistance after the first rehabilitation period of three weeks. Improvements in management of subjects with this disorder by a multidisciplinary team, with the application of early rehabilitation programs increase psychomotor development, improve autonomy and finally lead to a better social adaptation.
Keywords: Cri du chat syndrome, hypotonia, rehabilitation
Presentation type: Poster
Correspondence: University of Oradea
Email: dstoicanescu@yahoo.com