Cri du Chat syndrome is a rare genetic disorder due to a missing part of chromosome 5 and the main symptoms are: behavioral problems, severe cognitive, speech, and motor delays. The diagnosis of this syndrome is complex and it requires standardized assessment tools with good sensitivity and specificity. The presence of autistic symptoms in Cri du Chat syndrome seems to be frequent. Thus, studies which help professionals discriminate individuals with autism spectrum disorder from individuals with Cri du Chat syndrome are important.
To investigate the presence of autistic symptoms in a sample of patients with Cri du Chat syndrome.
(1) subjects: a sample of 10 patients with clinical and molecular-cytogenetic diagnosis of Cri du Chat syndrome. (2) measurements: all subjects were evaluated according to the Brazilian version of the Autism Screening Questionnaire (ASQ). In addition, their behaviors were video recorded to measure frequency and duration of adaptive responses (imitation, cooperation, following rules) and non-adaptive responses (stereotypes, aggression and self-injury).
Results: Pearson’s Correlation Coefficient showed positive correlations between the score of the ASQ: (1) non-adaptive behavior of the repetitive and stereotyped use of objects (p = 0.043), (2) aggression directed toward objects (p = 0.002) and (3) self-injury (p = 0.004). Negative correlations were observed between the total score of the ASQ and (1) adaptive behavior of imitation and (p = 0.032) cooperation and (2) following rules (p = 0.013).
In this sample, higher scores on the ASQ scale were correlated with higher frequency of non-adaptive behavior. Thus, more severe cases of individuals with Cri du chat syndrome have similar behavior of individuals with autism spectrum disorder. These results have clinical implications because professionals must be prepared to differentiate patients with autism spectrum disorder than patients with Cri du chat syndrome.