Clinical heterogeneity in 80 home-reared childrenwith cri du chat syndrome

Cognitive functioning in children with typical cri du chat (5p–) syndrome

“…Our findings indicate that all children had moderate to severe learning difficulties, with 21 of the children scoring below 50 on the Full-Scale IQ. The homogeneity in the distribution of IQ scores within this syndrome group confirms earlier reports (Wilkins et al 1983) and is also in accordance with the recent findings of a cross-Atlantic survey of maladaptive behaviour in 146 individuals with 5p-deletions (Dykens and Clarke 1997), whereby parental reports of previously administered IQ tests indicated a preponderance of moderate to severe degrees of global intellectual impairment (95% UK, 93% US). In terms of a Verbal-Performance IQ discrepancy, the present study found no evidence to indicate any specific direction of difference, nor was there any specific subtest profile.…”

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1)

“…Accordingly, these authors presumed that as the size of 5p deletion becomes smaller, the severity of mental and growth retardation becomes milder. Furthermore, it was pointed out that the intelligence of individuals with partial monosomy 5p was negatively correlated with the size of the deletion (Wilkins et al, 1983;Carlin and Neadle, 1978), and that individuals with larger deletions tended to have a smaller head size (Niebuhr, 1978;Wilkins et al, 1983) and severe growth retardation (Wilkins et al, 1983). On the other hand, in terminal duplications of 5q, longer duplications (5q31 or 33~qter) had severer growth retardation, developmental retardation, and microcephly than shorter (5q34---,qter) ones (Rodewald et al, 1980).…”

Cri du chat syndrome: A critical review

“…Currently the main behavioral problems are better defined, consisting of: hyperactivity, loss of attention, uneasiness, aggressive and self-injured behavior (3,14). Cornish and Pigram (15) found a low incidence of hyperactivity among the individuals evaluated, opposing the results that Wilkins et al (16) obtained, that suggested hyperactivity as the major behavioral problem of more than half the population with CdCS. As mentioned before, self-injured behavior is common (4) usually following three patterns: hitting their head against objects, hitting the head against body parts, and self-injuries caused by biting.…”

“…Not all the individuals are able to develop spoken language and occasionally they use sign language with success. Invariably, receptive language and comprehension is remarkably better than expressive language (16). Regarding the social profile, many of the children with CdCS live at home and interact with society, eventually achieving communication and coordination improvements (15,17) being able to express their needs, establishing relationships with other people and developing different levels of motor activity (4,18).…”