Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

A behavioral phenotype in the de Lange syndrome

H G Johnson, P Ekman, W Friesen

    Pediatric Research
    |October 1, 1976
    PubMed
    Summary

    Patients with de Lange syndrome exhibit social avoidance and limited emotional expression. However, vestibular stimulation and vigorous movement effectively elicit positive responses, suggesting a specific behavioral phenotype.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Immunogenicity of subcutaneous TNF inhibitors and its clinical significance in real-life setting in patients with spondyloarthritis.

    Rheumatology international·2021
    Same author

    Minor effect of loss to follow-up on outcome interpretation in the Swedish spine register.

    European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·2019
    Same author

    Long-term outcome after spinal fusion for isthmic spondylolisthesis in adults.

    The spine journal : official journal of the North American Spine Society·2018
    Same author

    Three out of four disease-modifying anti-rheumatic drug-naïve rheumatoid arthritis patients meet 28-joint Disease Activity Score remission at 12 months: results from the FIN-ERA cohort.

    Scandinavian journal of rheumatology·2017
    Same author

    Standardization in pathologic assessment of transitional cell cancer of the bladder.

    Urologic oncology·2011
    Same author

    Simulation of mirages.

    Applied optics·2010

    Area of Science:

    • Developmental Psychology
    • Behavioral Genetics
    • Clinical Psychology

    Background:

    • De Lange syndrome (also known as Cornelia de Lange syndrome) is a rare genetic disorder.
    • Individuals with this syndrome often present with distinctive facial features, growth retardation, and intellectual disability.
    • Behavioral characteristics associated with de Lange syndrome are not fully elucidated.

    Purpose of the Study:

    • To quantitatively analyze the social behavior and emotional responses of patients with de Lange syndrome.
    • To investigate the impact of different stimuli on the behavior of these patients.
    • To identify a specific behavioral phenotype associated with de Lange syndrome.

    Main Methods:

    • Utilized videotape recordings and a standardized protocol of eight stimulus conditions.
    • Employed a visual, digital time reference for precise coding and quantitative analysis.
    • Observed and scored social interactions, facial expressions, stereotypic movements, and responses to vestibular stimulation.

    Main Results:

    • Patients consistently avoided social interactions and physical contact, differentiating neither strangers nor mothers.
    • Negative social interactions with strangers were significantly higher (P < 0.01) than positive interactions.
    • Vestibular stimulation and vigorous movement elicited significantly more positive responses, such as smiling, compared to passive handling.

    Conclusions:

    • A distinct behavioral phenotype characterizes de Lange syndrome, including social withdrawal and altered responses to stimulation.
    • Vestibular and kinesthetic input appear to be crucial for eliciting positive affect in these patients.
    • Further research into sensory processing and behavioral interventions is warranted for individuals with de Lange syndrome.

    Related Experiment Videos