Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods

Abstract

The Cri du Chat syndrome (CdC) is a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5 (5p−). It is well known that home-reared patients show better performances as compared to institutionalised cases, and it was reported that continuous educational intervention can ameliorate their performances. To assess the efficacy of educational intervention and to develop new CdC oriented programs of rehabilitation, we compare the results obtained for many developmental skills in two groups of CdC patients undergoing two different rehabilitation programs. Using data on the development of a group of CdC patients obtained by validated Italian translation for the Denver Developmental Screening Test II, we compared a group of 13 patients undergoing an educational program developed for CdC patients, the Mayer Project (MP), with a second group of 15 cases in whom caring was not specifically oriented. A positive impact of the MP was reported by parents, observing an improvement in social skills obtained, even if no significant differences were observed when the items of the Denver Test are studied. The need for personalized care in CdC patients and the choice of different methods to compare the results are also discussed.

The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report

“…Furthermore, 81.9% of the patients were diagnosed in the first year of life, and it was reported that 71.6% of the patients started physiotherapy before one year-old in the same study. 9 Although patients who started physiotherapy before one year-old are indicated to have better results in the achievement of developmental skills, there was no statistical 9 Guala et al 26 who carried out another study, investigated the effect of two rehabilitation programs on the development and reported that no significant difference was found. There are several findings concerning physiotherapy, 9,26 but some information in these studies is unclear, such as specific and detailed information about the physiotherapy, the child's initial functional levels, and age of onset of physiotherapy.…”

Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome

“…Cardiac and renal malformations may be also found [ 4 ]. There is no specific treatment for CdC nevertheless, patients benefit from rehabilitative programs, which should be started as soon as possible and involve close collaboration with families, who must be supported psychologically [ 5 ]. Moreover, it is required that clinical evaluations take place regularly over the course of a person’s life, more specifically from the neonatal to adulthood period [ 6 ].…”

18F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome

“…Cr i du chat syndrome (CDCS) is a rare genetic disease with an incidence ranging from 1 in 15,000 to 1 in 50,000 live births, caused by either a partial or a complete deletion of chromosome 5p (1). The clinical phenotype depends on the location and extent of the genomic region involved in the 5p deletion, with the breakpoint location varying from p13 (D5S763) to p15.2 (D5S18) (2)(3)(4)(5). The various phenotypes are characterized by different degrees of severity in the developmental and behavioral problems associated with the disease.…”

“…The various phenotypes are characterized by different degrees of severity in the developmental and behavioral problems associated with the disease. Physical and behavioral characteristics include a high-pitched cry, microcephaly, a broad nasal bridge, epicanthal folds, micrognathia, and severe psychomotor retardation (2). Diagnosis is based on clinical manifestations and requires karyotyping, array comparative genomic hybridization, and, eventually, fluorescence in situ hybridization for doubtful cases (1,2).…”

“…Physical and behavioral characteristics include a high-pitched cry, microcephaly, a broad nasal bridge, epicanthal folds, micrognathia, and severe psychomotor retardation (2). Diagnosis is based on clinical manifestations and requires karyotyping, array comparative genomic hybridization, and, eventually, fluorescence in situ hybridization for doubtful cases (1,2). The most frequent structural brain abnormalities, as shown by the few studies available in the literature using MRI, include brain stem hypoplasia (with predominantly pontine involvement), thinning or agenesis of the corpus callosum, cerebellar vermian atrophy (or agenesis), cerebellar cortical thickening, and incomplete arborization of the white matter (6,7).…”