Self-injurious behaviour in Cornelia de Lange syndrome: 2. association with environmental events
intervention; symptoms; children; Rehabilitation; Neurology; Education & Educational Research; prevalence; Genetics & Heredity; behavioural phenotype; brachmann-delange syndrome; Cornelia de Lange syndrome; descriptive analysis; functional-analysis; individuals; Neurosciences &; phenomenology; phenotype; prader-willi syndrome; Psychiatry; self-injurious behaviour; social reinforcement; behavioral problems; De Lange syndrome; psychological intervention; environmental conditions; demand denial no contact; environment; self-injury
Background Self-injurious behaviour is commonly seen in Cornelia de Lange syndrome (CdLS). However, there has been limited research into the aetiology of self-injury in CdLS and whether environmental factors influence the behaviour. Methods We observed the self-injury of 27 individuals with CdLS and 17 participants who did not have CdLS matched for age, gender, level of intellectual disability and mobility. Descriptive analyses were used to determine the extent to which environmental events were associated with self-injury. Results Lag sequential analysis of the association between self-injurious behaviour and environmental events revealed no differences between the two groups in terms of either the number or degree of environmental associations. Conclusions The results suggest that the associations between the environment and self-injury in CdLS do not differ from those seen in the broader population of people with intellectual disability. By implication the social reinforcement hypothesis is equally applicable to both groups.
Sloneem J; Arron K; Hall S; Oliver C
Journal of Intellectual Disability Research
2009
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/j.1365-2788.2009.01183.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2009.01183.x</a>
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology
Rehabilitation; Neurology; Education & Educational Research; Genetics & Heredity; behavioural phenotype; brachmann-delange syndrome; Cornelia de Lange syndrome; individuals; Neurosciences &; phenotype; Psychiatry; self-injurious behaviour; mental-retardation; mutilative behavior; compulsive behaviour; intellectual disabilities; maladaptive behavior; people; prader-willi-syndrome; rating-scale; repetitive behaviour; stereotyped behaviour; behavioral problems; De Lange syndrome; trajectory; characteristics; hyperactivity; stereotyped disorders; compulsive behaviors
Background Self-injurious behaviour is frequently identified as part of the behavioural phenotype of Cornelia de Lange syndrome (CdLS). We conducted a case-control study of the prevalence and phenomenology of self-injurious behaviour (SIB) in CdLS. Methods A total of 54 participants with CdLS were compared with 46 individuals who were comparable on key variables including age, degree of intellectual disability and wheelchair use, using questionnaire and observational measures. Results Clinically significant self-injury was not more prevalent in the CdLS group (55.6%), nor was it different in presentation from that seen in the comparison group. Hyperactivity, stereotyped and compulsive behaviours predicted clinically significant self-injury in all participants. Hand directed, mild self-injury was more prevalent in CdLS. Conclusions The results show that clinically significant self-injury may not be part of the behavioural phenotype of CdLS but a specific body target for proto-SIB is more common.
Oliver C; Sloneem J; Hall S; Arron K
Journal of Intellectual Disability Research
2009
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/j.1365-2788.2009.01179.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2009.01179.x</a>
Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome
children; Rehabilitation; communication; Education & Educational Research; brachmann-delange syndrome; functional-analysis; phenotype; assessments; evaluate aberrant behavior; mutilative behavior; skills; behavioral problems; De Lange syndrome; trajectory characteristics; self-injury; self injurious behavior
Cornelia de Lange syndrome is reported to be associated with self-injurious behavior (SIB) and social avoidance. We used analog methodology to examine the effect of manipulating adult social contact on social communicative behaviors and SIB in 16 children with this syndrome. For 9 participants engagement behavior was related to levels of adult attention, and SIB showed significant variability across conditions for 3 participants. These findings indicate that SIB can be affected by environmental factors, even though it is thought to be part of the behavioral phenotype of Cornelia de Lange syndrome and suggest that individuals with this syndrome show socially motivated attention-soliciting behaviors. The implications for gene-environment interactions are discussed.
Oliver C; Arron K; Hall S; Sloneem J; Forman D; McClintock K
American Journal on Mental Retardation
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1352/0895-8017(2006)111%5B184:EOSCOS%5D2.0.CO;2" target="_blank" rel="noreferrer noopener">10.1352/0895-8017(2006)111[184:EOSCOS]2.0.CO;2</a>
The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals
children; Syndrome; Rehabilitation; communication; Neurology; Education & Educational Research; autism; Genetics & Heredity; brachmann-delange syndrome; Neurosciences &; Psychiatry; intellectual disability; mental-retardation; intelligence; behavioural phenotypes; cognitive level; Cornelia de Lange; language-skills; nipbl; normal; self-injury; self-mutilative behavior; behavioral problems; De Lange syndrome; trajectory; characteristics; CdLS; hyperactivity; attention disorder; anxiety; compulsive disorders; self-injurious behavior; autistic-like features
Background Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods In total, 56 individuals with CdLS participated in the study. During hospitalization, their mothers received a number of questionnaires to complete. The behavioural phenotype was investigated using the following scales: Developmental Behaviour Scale Primary Carer Version; Autism Behaviour Checklist; Childhood Autism Rating Scale. Results Our participants demonstrated some behavioural characteristics that are frequently associated with CdLS (hyperactivity, attention disorder, anxiety, compulsive disorders, self-injurious behaviour and autistic-like features). Our findings demonstrate the variability of behavioural characteristics in CdLS in addition to highlighting the contribution of some variables to both the CdLS behavioural profile and the developmental trajectory of the behavioural pattern. Conclusions The behavioural characteristics identified in our sample were correlated with some clinical and functional aspects (chronological age, cognitive level and clinical phenotype). The variability of the behavioural profile in CdLS reflected the wide variability in cognitive and adaptive functioning across individuals and led us to conclude that there may be multiple behavioural phenotypes associated with the syndrome. Further comparative studies between CdLS and individuals with intellectual disability or other genetic syndromes may help to provide further understanding of the behavioural phenotype of CdLS.
Basile E; Villa L; Selicorni A; Molteni M
Journal of Intellectual Disability Research
2007
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/j.1365-2788.2007.00977.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2007.00977.x</a>
Communication, Cognitive Development and Behavior in Children With Cornelia de Lange Syndrome (CdLS): Preliminary Results
Genetics & Heredity; brachmann-delange syndrome; individuals; phenotype; Psychiatry; language-skills; AAC (augmentative and alternative communication); ability; autistic behavior; CdLS; delange cornelia; intellectual disability (ID); morphosyntactic; normal intelligence; behavioral symptoms; behavior; tone and motor; De Lange syndrome; trajectory; characteristics; externalizing behavior
In this study, we present preliminary data on cognitive, behavioral and communication domains of individuals with Cornelia de Lange Syndrome (CdLS), collected through a specific protocol combining direct and indirect tools. Seventeen subjects with CdLS were assessed, 2.5- to 13.4-year-old. Cognitive level of the subjects differed from what previously described in literature, showing more patients with normal or borderline cognitive abilities. We found a relation between severe autistic behavior and comprehension impairments: all children with high CARS score have severe receptive language disability. A correlation was also found between CARS score and ID: high CARS score occurred only in patients with profound levels of ID. Results of this study support the need for a specific assessment protocol tailored for the characteristics of subjects with multiple disabilities, to be able to identify their strengths avoiding the avalanche effect of weaknesses. Most tests on neuropsychological functions have been developed and standardized for typically developing children, and require the integrity of other functions aside the one that is evaluated, determining an underestimation of the level of functioning. This study could be a starting point to develop new models applicable to other genetic syndromes and complex situations; new and wider studies are needed in order to allow a more complete and accurate assessment, thereby ensuring more efficient and family-centered treatment plans. (c) 2014 Wiley Periodicals, Inc.
Ajmone P F; Rigamonti C; Dall'Ara F; Monti F; Vizziello P; Milani D; Cereda A; Selicorni A; Costantino A
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
2014
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.b.32224" target="_blank" rel="noreferrer noopener">10.1002/ajmg.b.32224</a>