Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity

2010 ◽  
Vol 41 (8) ◽  
pp. 1019-1032 ◽  
Author(s):  
Chris Oliver ◽  
Katy Berg ◽  
Jo Moss ◽  
Kate Arron ◽  
Cheryl Burbidge
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genetic Syndromes ◽  
Behavioral Phenotypes

scholarly journals The level of GNE and its relationship with behavioral phenotypes in children with autism spectrum disorder

Medicine ◽  
2020 ◽  
Vol 99 (28) ◽  
pp. e21013
Author(s):  
Xiaolei Yang ◽  
Hongjie Li ◽  
Jie Ge ◽  
Hong Chao ◽  
Gang Li ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Behavioral Phenotypes

scholarly journals Identification and analysis of behavioral phenotypes in autism spectrum disorder via unsupervised machine learning

2019 ◽  
Vol 129 ◽  
pp. 29-36 ◽  
Author(s):  
Elizabeth Stevens ◽  
Dennis R. Dixon ◽  
Marlena N. Novack ◽  
Doreen Granpeesheh ◽  
Tristram Smith ◽  
...  
Keyword(s):  
Machine Learning ◽  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Unsupervised Machine Learning ◽  
Behavioral Phenotypes

The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion

2020 ◽  
Author(s):  
Brendan E. Karba ◽  
Jean-Francois Lemay ◽  
Scott A. McLeod
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Diagnosis ◽  
Receptive Language ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genetic Syndromes ◽  
Nasal Bridge ◽  
Clinical Dilemma

AbstractWe report on a 3-year-old girl with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language delays, fine and gross motor delays, and no imaginative or symbolic representative play. Investigation of the etiology of her developmental delays revealed a genetic diagnosis of a 9p24 deletion by chromosomal microarray analysis. The possibility of an additional co-occurring disorder of autism spectrum disorder (ASD) was also raised by a referring clinician. This case highlights the clinical dilemma of diagnosing ASD in those with existing genetic syndromes.

Social Behavior and Characteristics of Autism Spectrum Disorder in Angelman, Cornelia de Lange, and Cri du Chat Syndromes

2013 ◽  
Vol 118 (4) ◽  
pp. 262-283 ◽  
Author(s):  
Joanna Moss ◽  
Patricia Howlin ◽  
Richard Patrick Hastings ◽  
Sarah Beaumont ◽  
Gemma M. Griffith ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Behavior ◽  
Social Communication ◽  
Social Motivation ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genetic Syndromes ◽  
The Social ◽  
Cornelia De Lange ◽  
Behavior Profiles

Abstract We evaluated autism spectrum disorder (ASD) characteristics and social behavior in Angelman (AS; n  =  19; mean age  = 10.35 years), Cornelia de Lange (CdLS; n  =  15; mean age  = 12.40 years), and Cri du Chat (CdCS, also known as 5 p-syndrome; n  =  19; mean age  =  8.80 years) syndromes. The proportion of individuals meeting the ASD cutoff on the Social Communication Questionnaire was significantly higher in the AS and CdLS groups than in the CdCS group (p < .01). The groups demonstrated divergent social behavior profiles during social conditions in which adult availability, adult familiarity, and social demand were manipulated. Social enjoyment was significantly heightened in AS, whereas social approaches were heightened in individuals with CdCS. Social motivation, social communication, and enjoyment were significantly lower in CdLS. The findings highlight the importance of detailed observation when evaluating ASD and social behavior in genetic syndromes.

The association between NCAM1 levels and behavioral phenotypes in children with autism spectrum disorder

2019 ◽  
Vol 359 ◽  
pp. 234-238 ◽  
Author(s):  
Xiaolei Yang ◽  
Mingyang Zou ◽  
Xiuming Pang ◽  
Shuang Liang ◽  
Caihong Sun ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Behavioral Phenotypes

Delineating the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes

2013 ◽  
Vol 118 (1) ◽  
pp. 55-73 ◽  
Author(s):  
Joanna Moss ◽  
Chris Oliver ◽  
Lisa Nelson ◽  
Caroline Richards ◽  
Scott Hall
Keyword(s):  
Autism Spectrum Disorder ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cornelia De Lange Syndrome ◽  
Genetic Syndromes ◽  
The Social ◽  
Cornelia De Lange ◽  
Atypical Autism

Abstract An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n  =  130, M age  =  17.19), Fragile X syndrome (n  =  182, M age  =  16.94), and autism spectrum disorder (n  =  142, M age  =  15.19), who were comparable on chronological age. Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and autism was 78.6%, and 45.6%, respectively, in Cornelia de Lange syndrome and 83.6% and 48.6% in Fragile X syndrome. Domain and item analyses indicate differing, atypical autism spectrum disorder profiles in Fragile X and Cornelia de Lange syndromes. A limited association between adaptive behavior and autism spectrum disorder was identified in all groups. The findings have implications for intervention in genetic syndromes and conceptualization of autism spectrum disorder in the wider population.

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