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Scott S Hall - One of the best experts on this subject based on the ideXlab platform.

  • Behavioural phenotype of Cornelia De Lange Syndrome: case–control study
    British Journal of Psychiatry, 2020
    Co-Authors: Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall
    Abstract:

    Background Cornelia De Lange Syndrome is associated with abnormalities on chromosomes 5, 10 and X. Aims To Delineate the behavioural phenotype of Cornelia De Lange Syndrome with specific reference to autistic-spectrum disorDer. Method A total of 54 individuals with Cornelia De Lange Syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorDer, and adaptive, compulsive and disorDered behaviour. Results There was no difference between the groups in global behaviour disorDer. Severe autism was significantly more prevalent in the Syndrome group (32.1%) than the comparison group (7.1%). In addition, the Syndrome group also eviDenced significantly higher levels of compulsive behaviour. Conclusions These data suggest that autistic-spectrum disorDer is part of the behavioural phenotype of Cornelia De Lange Syndrome and that compulsive behaviours are eviDent. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with Detailed examination of the phenomenology of compulsive behaviours.

  • behavioural phenotype of cornelia De Lange Syndrome case control study
    British Journal of Psychiatry, 2008
    Co-Authors: Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall
    Abstract:

    Background Cornelia De Lange Syndrome is associated with abnormalities on chromosomes 5, 10 and X. Aims To Delineate the behavioural phenotype of Cornelia De Lange Syndrome with specific reference to autistic-spectrum disorDer. Method A total of 54 individuals with Cornelia De Lange Syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorDer, and adaptive, compulsive and disorDered behaviour. Results There was no difference between the groups in global behaviour disorDer. Severe autism was significantly more prevalent in the Syndrome group (32.1%) than the comparison group (7.1%). In addition, the Syndrome group also eviDenced significantly higher levels of compulsive behaviour. Conclusions These data suggest that autistic-spectrum disorDer is part of the behavioural phenotype of Cornelia De Lange Syndrome and that compulsive behaviours are eviDent. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with Detailed examination of the phenomenology of compulsive behaviours.

  • the association between environmental events and self injurious behaviour in cornelia De Lange Syndrome
    Journal of Intellectual Disability Research, 2005
    Co-Authors: Jo Moss, Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall, Jane Petty
    Abstract:

    BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia De Lange Syndrome. The present study examined the variability of self-injurious behaviour in Cornelia De Lange Syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD: A Descriptive analysis of observational data on eight children with Cornelia De Lange Syndrome aged between 4 and 14 years was carried out. The association between self-injurious behaviour and four environmental setting events and between specific environmental events and setting events was examined using established statistical methods for observational data. RESULTS: Seven out of eight of the participants showed at least one form of self-injurious behaviour that was associated with a particular setting event. The study also Demonstrated that the relationship between setting events and environmental events is extremely variable across individuals. CONCLUSIONS: Self-injurious behaviour in some individuals with Cornelia De Lange Syndrome is associated with environmental events although the precise nature of the association warrants clarification. Using broad setting events as a methodological tool in isolation proviDes some insight into the role of specific environmental factors in maintaining self-injurious behaviour but the integrity of setting events must be established.

Chris Oliver - One of the best experts on this subject based on the ideXlab platform.

  • Behavioural phenotype of Cornelia De Lange Syndrome: case–control study
    British Journal of Psychiatry, 2020
    Co-Authors: Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall
    Abstract:

    Background Cornelia De Lange Syndrome is associated with abnormalities on chromosomes 5, 10 and X. Aims To Delineate the behavioural phenotype of Cornelia De Lange Syndrome with specific reference to autistic-spectrum disorDer. Method A total of 54 individuals with Cornelia De Lange Syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorDer, and adaptive, compulsive and disorDered behaviour. Results There was no difference between the groups in global behaviour disorDer. Severe autism was significantly more prevalent in the Syndrome group (32.1%) than the comparison group (7.1%). In addition, the Syndrome group also eviDenced significantly higher levels of compulsive behaviour. Conclusions These data suggest that autistic-spectrum disorDer is part of the behavioural phenotype of Cornelia De Lange Syndrome and that compulsive behaviours are eviDent. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with Detailed examination of the phenomenology of compulsive behaviours.

  • behavioural phenotype of cornelia De Lange Syndrome case control study
    British Journal of Psychiatry, 2008
    Co-Authors: Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall
    Abstract:

    Background Cornelia De Lange Syndrome is associated with abnormalities on chromosomes 5, 10 and X. Aims To Delineate the behavioural phenotype of Cornelia De Lange Syndrome with specific reference to autistic-spectrum disorDer. Method A total of 54 individuals with Cornelia De Lange Syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorDer, and adaptive, compulsive and disorDered behaviour. Results There was no difference between the groups in global behaviour disorDer. Severe autism was significantly more prevalent in the Syndrome group (32.1%) than the comparison group (7.1%). In addition, the Syndrome group also eviDenced significantly higher levels of compulsive behaviour. Conclusions These data suggest that autistic-spectrum disorDer is part of the behavioural phenotype of Cornelia De Lange Syndrome and that compulsive behaviours are eviDent. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with Detailed examination of the phenomenology of compulsive behaviours.

  • the association between environmental events and self injurious behaviour in cornelia De Lange Syndrome
    Journal of Intellectual Disability Research, 2005
    Co-Authors: Jo Moss, Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall, Jane Petty
    Abstract:

    BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia De Lange Syndrome. The present study examined the variability of self-injurious behaviour in Cornelia De Lange Syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD: A Descriptive analysis of observational data on eight children with Cornelia De Lange Syndrome aged between 4 and 14 years was carried out. The association between self-injurious behaviour and four environmental setting events and between specific environmental events and setting events was examined using established statistical methods for observational data. RESULTS: Seven out of eight of the participants showed at least one form of self-injurious behaviour that was associated with a particular setting event. The study also Demonstrated that the relationship between setting events and environmental events is extremely variable across individuals. CONCLUSIONS: Self-injurious behaviour in some individuals with Cornelia De Lange Syndrome is associated with environmental events although the precise nature of the association warrants clarification. Using broad setting events as a methodological tool in isolation proviDes some insight into the role of specific environmental factors in maintaining self-injurious behaviour but the integrity of setting events must be established.

Kate Arron - One of the best experts on this subject based on the ideXlab platform.

  • Behavioural phenotype of Cornelia De Lange Syndrome: case–control study
    British Journal of Psychiatry, 2020
    Co-Authors: Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall
    Abstract:

    Background Cornelia De Lange Syndrome is associated with abnormalities on chromosomes 5, 10 and X. Aims To Delineate the behavioural phenotype of Cornelia De Lange Syndrome with specific reference to autistic-spectrum disorDer. Method A total of 54 individuals with Cornelia De Lange Syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorDer, and adaptive, compulsive and disorDered behaviour. Results There was no difference between the groups in global behaviour disorDer. Severe autism was significantly more prevalent in the Syndrome group (32.1%) than the comparison group (7.1%). In addition, the Syndrome group also eviDenced significantly higher levels of compulsive behaviour. Conclusions These data suggest that autistic-spectrum disorDer is part of the behavioural phenotype of Cornelia De Lange Syndrome and that compulsive behaviours are eviDent. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with Detailed examination of the phenomenology of compulsive behaviours.

  • behavioural phenotype of cornelia De Lange Syndrome case control study
    British Journal of Psychiatry, 2008
    Co-Authors: Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall
    Abstract:

    Background Cornelia De Lange Syndrome is associated with abnormalities on chromosomes 5, 10 and X. Aims To Delineate the behavioural phenotype of Cornelia De Lange Syndrome with specific reference to autistic-spectrum disorDer. Method A total of 54 individuals with Cornelia De Lange Syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorDer, and adaptive, compulsive and disorDered behaviour. Results There was no difference between the groups in global behaviour disorDer. Severe autism was significantly more prevalent in the Syndrome group (32.1%) than the comparison group (7.1%). In addition, the Syndrome group also eviDenced significantly higher levels of compulsive behaviour. Conclusions These data suggest that autistic-spectrum disorDer is part of the behavioural phenotype of Cornelia De Lange Syndrome and that compulsive behaviours are eviDent. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with Detailed examination of the phenomenology of compulsive behaviours.

  • the association between environmental events and self injurious behaviour in cornelia De Lange Syndrome
    Journal of Intellectual Disability Research, 2005
    Co-Authors: Jo Moss, Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall, Jane Petty
    Abstract:

    BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia De Lange Syndrome. The present study examined the variability of self-injurious behaviour in Cornelia De Lange Syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD: A Descriptive analysis of observational data on eight children with Cornelia De Lange Syndrome aged between 4 and 14 years was carried out. The association between self-injurious behaviour and four environmental setting events and between specific environmental events and setting events was examined using established statistical methods for observational data. RESULTS: Seven out of eight of the participants showed at least one form of self-injurious behaviour that was associated with a particular setting event. The study also Demonstrated that the relationship between setting events and environmental events is extremely variable across individuals. CONCLUSIONS: Self-injurious behaviour in some individuals with Cornelia De Lange Syndrome is associated with environmental events although the precise nature of the association warrants clarification. Using broad setting events as a methodological tool in isolation proviDes some insight into the role of specific environmental factors in maintaining self-injurious behaviour but the integrity of setting events must be established.

Jenny Sloneem - One of the best experts on this subject based on the ideXlab platform.

  • Behavioural phenotype of Cornelia De Lange Syndrome: case–control study
    British Journal of Psychiatry, 2020
    Co-Authors: Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall
    Abstract:

    Background Cornelia De Lange Syndrome is associated with abnormalities on chromosomes 5, 10 and X. Aims To Delineate the behavioural phenotype of Cornelia De Lange Syndrome with specific reference to autistic-spectrum disorDer. Method A total of 54 individuals with Cornelia De Lange Syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorDer, and adaptive, compulsive and disorDered behaviour. Results There was no difference between the groups in global behaviour disorDer. Severe autism was significantly more prevalent in the Syndrome group (32.1%) than the comparison group (7.1%). In addition, the Syndrome group also eviDenced significantly higher levels of compulsive behaviour. Conclusions These data suggest that autistic-spectrum disorDer is part of the behavioural phenotype of Cornelia De Lange Syndrome and that compulsive behaviours are eviDent. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with Detailed examination of the phenomenology of compulsive behaviours.

  • behavioural phenotype of cornelia De Lange Syndrome case control study
    British Journal of Psychiatry, 2008
    Co-Authors: Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall
    Abstract:

    Background Cornelia De Lange Syndrome is associated with abnormalities on chromosomes 5, 10 and X. Aims To Delineate the behavioural phenotype of Cornelia De Lange Syndrome with specific reference to autistic-spectrum disorDer. Method A total of 54 individuals with Cornelia De Lange Syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorDer, and adaptive, compulsive and disorDered behaviour. Results There was no difference between the groups in global behaviour disorDer. Severe autism was significantly more prevalent in the Syndrome group (32.1%) than the comparison group (7.1%). In addition, the Syndrome group also eviDenced significantly higher levels of compulsive behaviour. Conclusions These data suggest that autistic-spectrum disorDer is part of the behavioural phenotype of Cornelia De Lange Syndrome and that compulsive behaviours are eviDent. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with Detailed examination of the phenomenology of compulsive behaviours.

  • the association between environmental events and self injurious behaviour in cornelia De Lange Syndrome
    Journal of Intellectual Disability Research, 2005
    Co-Authors: Jo Moss, Chris Oliver, Kate Arron, Jenny Sloneem, Scott S Hall, Jane Petty
    Abstract:

    BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia De Lange Syndrome. The present study examined the variability of self-injurious behaviour in Cornelia De Lange Syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD: A Descriptive analysis of observational data on eight children with Cornelia De Lange Syndrome aged between 4 and 14 years was carried out. The association between self-injurious behaviour and four environmental setting events and between specific environmental events and setting events was examined using established statistical methods for observational data. RESULTS: Seven out of eight of the participants showed at least one form of self-injurious behaviour that was associated with a particular setting event. The study also Demonstrated that the relationship between setting events and environmental events is extremely variable across individuals. CONCLUSIONS: Self-injurious behaviour in some individuals with Cornelia De Lange Syndrome is associated with environmental events although the precise nature of the association warrants clarification. Using broad setting events as a methodological tool in isolation proviDes some insight into the role of specific environmental factors in maintaining self-injurious behaviour but the integrity of setting events must be established.

Terri L Young - One of the best experts on this subject based on the ideXlab platform.

  • ophthalmologic findings in cornelia De Lange Syndrome a genotype phenotype correlation study
    Archives of Ophthalmology, 2006
    Co-Authors: Sudha Nallasamy, Femida Kherani, Dinah Yaeger, Jennifer Mccallum, Maninder Kaur, Marcella Devoto, Laird G Jackson, Ian D Krantz, Terri L Young
    Abstract:

    Objective To evaluate individuals with Cornelia De Lange Syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings. Methods Fifty-four patients with Cornelia De Lange Syndrome (26 mutation positive and 28 mutation negative) with varying extent and severity of ophthalmologic findings participated in the study. We conducted a retrospective analysis of ophthalmologic data obtained through survey responses and medical records. The severity of nasolacrimal duct obstruction, myopia, ptosis, and strabismus was classified. The severity of eye findings was compared relative to the presence vs the absence of mutations in the coding region of NIPBL and relative to mutations predicted to result in a truncated protein (nonsense and frameshift mutations) vs missense mutations. Fisher exact test was used to Determine the significance of these correlations. Results A trend toward increased ptosis severity was found among individuals with truncating (nonsense and frameshift) mutations compared with individuals with missense mutations ( P  = .07). Conclusion NIPBL may be directly involved in ptosis pathogenesis. Clinical Relevance Elucidating the pathogenetic mechanisms of ophthalmologic morbidities in patients with De Lange Syndrome may lead to more effective treatment.