Correlates of maladaptive behavior in individuals with 5p-(cri du chat) syndrome

This study examined the range, distinctiveness, and correlates of maladaptive behavior in 146 subjects with 5p- (cri du chat) syndrome using the Aberrant Behavior Checklist as a standardized measure. Hyperactivity was the most significant and frequent problem in the sample. Subjects with 5p-syndrome also showed aggression, tantrums, self-injurious behavior, and stereotypies; some of these problems were more pronounced in individuals with lower cognitive-adaptive levels, as well as in those with histories of previous medication trials. Autistic-like features and social withdrawal were more characteristic of individuals with translocations as opposed to deletions, even when controlling for the lower adaptive level of the translocation group. These findings encourage further research on the behavior of individuals with 5p-syndrome.     

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

This study is the first attempt to assess systematically the cognitive functioning in children diagnosed with typical cri du chat syndrome (CDCS) using neuropsychological test measures. Twenty-six children aged between 6 years 4 months and 15 years 5 months (mean 8 years 3 months) completed a battery of tasks measuring IQ level, receptive and expressive language skills, and articulation. Twenty-four children were in the severe learning-disability range with no specific verbal or performance profile. Using more finely tuned measures of cognition, however, a clear discrepancy in the pattern of language functioning was found with better receptive than expressive language skills. One implication of these findings is that parents and professionals should be more optimistic about the capacities of children with CDCS to understand more complex verbal commands than their expressive language skills would suggest.     

Association between fatigue and autistic symptoms in children with cri du chat syndrome

In the current study, the authors examined whether the fatigue level of children diagnosed with cri du chat syndrome was associated with the expression of autistic symptoms. Sixty-nine children with cri du chat syndrome were compared with 47 children with moderate to severe intellectual disabilities who did not differ on intellectual severity. Participants were assessed using the Infant Sleep Questionnaire ( J. M. B. Morrell, 1999 ) for fatigue-level rating and the Childhood Autism Rating Scale ( E. Schopler, R. J. Reichler, & B. R. Renner, 1988 ) for autism-level rating. In support of the authors' hypothesis, results indicated that children who exhibited high levels of fatigue were more likely to express high levels of autistic symptoms. Contrary to the authors' hypothesis, children in the comparison group who exhibited high levels of fatigue conferred the greatest vulnerability to the expression of autistic symptoms.     

Consonant production and intelligibility in cri du chat syndrome

This article focuses on consonant productions by a group of children with cri du chat syndrome (CdCS) and examines how various aspects of these productions contribute to these children's overall intelligibility. Eight children and adolescents with CdCS participated in the study, and the following four questions were addressed: (1) What are the characteristic features of the consonant inventories of the subjects in terms of size and types of consonants; (2) how do the subjects render the consonant phonemes of the target language; (3) to what degree do the subjects produce target-like words; and (4) what is the relationship between consonant production and intelligibility? For the majority of our subjects, we found low proportions of correctly produced consonants, small consonant inventories with several recurrent types of deviant consonants, inaccuracy in realization of target phonemes and variable similarity to target words, all of which may contribute to reduced intelligibility.     

Speech and language development in cri du chat syndrome: a critical review

This article reviews research on speech and language abilities in people with cri du chat syndrome (CCS). CCS is a rare genetic disorder, with an estimated incidence between 1 in 15,000 and 1 in 50,000 births, resulting from a deletion on the short arm of chromosome 5. In general, individuals have delayed speech and language development, and some never develop spoken language. Their receptive language is better than their expressive language, although both are delayed. Regarding phonetics and phonology, substitutions, omissions, and distortions are frequent; consonant inventories are small; syllable shapes are restricted; and vowels are variable and overlap with each other acoustically. Persons with CCS have been found to inflect words from all major word classes. Little is known about syntactic skills, but some individuals are reported to express themselves in utterances of two or more words. Knowledge about speech and language development in CCS is sparse, and the need for more research is considerable.     

Early play behaviour in children with 5p- (Cri-du-Chat) syndrome

Background 5p‐ (Cri‐du‐Chat) syndrome (5p‐S) is a well defined chromosomal condition. While the physical symptoms have frequently been documented, the developmental and behavioural aspects of the syndrome have not been explored adequately, especially in young children. Method Mental level, and complexity and style of play were analysed in 10 children who were homogeneously selected with respect to their chronological age (range = 2–7 years). Results A high rate of distractability and alow level of object‐directed behaviours were observed in the play sessions. The findings were compared to two comparison groups (subjects with Down's syndrome or Cornelia‐de‐Lange syndrome) matched for mental age in order to analyse the specificity of these behavioural features for young children with 5p‐S. Conclusions A low level of object‐directed behaviours may be an early precursor of hyperactivity, distractability and stereotypy, which have been reported to be the characteristic features of the behavioural phenotype of older individuals with 5p‐S.     

Adjustment of children who have a sibling with Down syndrome: perspectives of mothers, fathers and children

Background A number of methodological weaknesses have contributed to our relatively poor understanding of the impact on children of having a brother or sister with a disability. These include a focus on poor adjustment, using multidiagnostic groups, inadequate matching, and a failure to consider the perspectives of children and parents together. Method This study compared the adjustment of 53 siblings of a child with Down syndrome with a comparison group of siblings of children who were developing typically. Children were matched on a case‐by‐case basis for gender, age and position in family. Families were matched for family size and father’s occupation. The age range of the target siblings was 7–14 years. Data were gathered from mothers, fathers and siblings. Results There were no significant differences between the groups on adjustment measures. These included parent perceptions of externalizing and internalizing behaviours, parent perceptions of sibling competence, and sibling perceptions of their own competence and self‐worth. Associations between measures of adjustment and child reports of their contribution to household functioning depended on sex rather than group membership. There was an association between parental reports of externalizing behaviour and sibling relationships with the brother/sister closest in age. Conclusions Having a brother or sister with Down syndrome does not inevitably lead to poor adjustment. Examination of within‐family processes would appear to be more useful in identifying children at risk than merely group membership.     

Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome

Wolf-Hirschhorn syndrome (WHS) is a well-characterized chromosomal disorder that occurs due to partial deletion of the short arm of chromosome 4 (4p-). Although, about 300 cases have been reported to date, limited data are available on electroclinical findings. Information given to parents at the time of diagnosis tends to be skewed to the extreme negative. To delineate the natural history of seizures and EEG patterns in WHS, and obtain better information on diagnosis or outcome in a clinical setting, we reviewed the available literature on electroclinical findings of WHS. 4p- syndrome is characterized by distinctive seizure and EEG patterns that facilitate the early diagnosis and management of such patients.     

Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress

Background Sleep concerns are common in children with Angelman syndrome, with 20–80% of individuals having a decreased sleep need and/or abnormal sleep–wake cycles. The impact of these sleep behaviours on parental sleep and stress is not known. Method Through the use of standardised questionnaires, wrist actigraphy and polysomnography, we defined the sleep behaviours of 15 children/adolescents with Angelman syndrome and the association of the child/adolescents sleep behaviours on parental sleep behaviours and parental stress. Results Both children/adolescents and their parents exhibited over 1 h of wake time after sleep onset and fragmented sleep. Prolonged sleep latency in the child was associated with parent insomnia and daytime sleepiness. Additionally, variability in child total sleep time was associated with parental stress. Conclusions Poor sleep in children/adolescents with Angelman syndrome was associated with poor parental sleep and higher parental stress. Further work is warranted to identify the underlying causes of the poor sleep, and to relate these findings to daytime functioning, behaviour and the family unit.     

Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome)

Velocardiofacial syndrome, now known as 22q11.2 deletion syndrome (22qDS), is estimated to affect more than 700 children born in the United States each year. Some clinical studies have found increased rates of schizophrenia in adults with 22qDS. However, these studies have been limited by small sample size and possible ascertainment bias. The psychiatric disorders most commonly reported in children and adolescents with 22qDS have been attention-deficit/hyperactivity disorder, oppositional defiant disorder, anxiety disorders, and major depression. Psychotic symptoms have been observed in 14% to 28% of children with 22qDS, but their clinical significance remains uncertain. A 5-year follow-up study of 22qDS children who reported psychotic symptoms at baseline found they had an increased risk for a subsequent psychotic disorder. Thus, a broad differential diagnosis should be considered when 22qDS children present with psychotic symptoms. Longitudinal studies are needed to better understand the full extent of the psychopathology associated with 22qDS.     

Genetic analysis of three patients with an 18p- syndrome and dystonia

Some patients with an 18p- syndrome show dystonia, and a focal dystonia gene has been mapped to chromosome 18p. The authors evaluated the extent of the deletion in three patients with an 18p- syndrome and dystonia using 14 DNA markers on 18p. A common deleted area, covering the DYT7 locus, places the putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM). Dystonia in these patients may be caused by haploinsufficiency of the DYT7 gene, a new dystonia gene on 18p, or may result from developmental brain anomalies.