Characteristics of Autism Spectrum Disorder in Sotos Syndrome / Chloe LANE in Journal of Autism and Developmental Disorders, 47-1 (January 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-1 (January 2017) . - p.135-143 Titre : Characteristics of Autism Spectrum Disorder in Sotos Syndrome Type de document : texte imprimé Auteurs : Chloe LANE, Auteur ; Elizabeth MILNE, Auteur ; Megan FREETH, Auteur Article en page(s) : p.135-143 Langues : Anglais (eng) Mots-clés : Sotos syndrome  Autism spectrum disorder  Behaviour  Social responsiveness scale Index. décimale : PER Périodiques Résumé : Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33 %) met clinical cut-off (T-score ≥60). There was no significant gender difference in symptom severity. There was a significant effect of age, with lower scores observed in early childhood and adulthood, compared to childhood. Furthermore, individuals with Sotos syndrome appear to display a trait profile that is similar to that identified in ASD. Overall, these findings indicate that the majority of individuals with Sotos syndrome display clinically significant behavioural symptomatology associated with ASD. En ligne : http://dx.doi.org/10.1007/s10803-016-2941-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=298 [article] Characteristics of Autism Spectrum Disorder in Sotos Syndrome [texte imprimé] / Chloe LANE, Auteur ; Elizabeth MILNE, Auteur ; Megan FREETH, Auteur . - p.135-143. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-1 (January 2017) . - p.135-143 Mots-clés : Sotos syndrome  Autism spectrum disorder  Behaviour  Social responsiveness scale Index. décimale : PER Périodiques Résumé : Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33 %) met clinical cut-off (T-score ≥60). There was no significant gender difference in symptom severity. There was a significant effect of age, with lower scores observed in early childhood and adulthood, compared to childhood. Furthermore, individuals with Sotos syndrome appear to display a trait profile that is similar to that identified in ASD. Overall, these findings indicate that the majority of individuals with Sotos syndrome display clinically significant behavioural symptomatology associated with ASD. En ligne : http://dx.doi.org/10.1007/s10803-016-2941-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=298

Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children's Communication Checklist-2 / Chloe LANE in Journal of Autism and Developmental Disorders, 49-4 (April 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-4 (April 2019) . - p.1475-1483 Titre : Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children's Communication Checklist-2 Type de document : texte imprimé Auteurs : Chloe LANE, Auteur ; Jo VAN HERWEGEN, Auteur ; Megan FREETH, Auteur Article en page(s) : p.1475-1483 Langues : Anglais (eng) Mots-clés : Communication  Language  Pragmatics  Sotos syndrome  Williams syndrome Index. décimale : PER Périodiques Résumé : Sotos syndrome is a congenital overgrowth syndrome associated with intellectual disability. This study investigated communicative abilities of children with Sotos syndrome (n = 31), using the Children's Communication Checklist, second edition. A cross-syndrome approach was used to establish the specificity of these abilities. Children with Williams syndrome (n = 34) were used as a comparison group. In both groups, the majority of participants had communicative impairment. Children with Sotos syndrome had an uneven pragmatic language profile and greater impairment with social relations, compared with restricted interests. Overall, children with Sotos syndrome had difficulties with both language structure and pragmatic language and a specific profile of relative difficulty with using nonverbal communication, using context-appropriate language and understanding peer relationships. En ligne : https://dx.doi.org/10.1007/s10803-018-3842-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=388 [article] Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children's Communication Checklist-2 [texte imprimé] / Chloe LANE, Auteur ; Jo VAN HERWEGEN, Auteur ; Megan FREETH, Auteur . - p.1475-1483. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-4 (April 2019) . - p.1475-1483 Mots-clés : Communication  Language  Pragmatics  Sotos syndrome  Williams syndrome Index. décimale : PER Périodiques Résumé : Sotos syndrome is a congenital overgrowth syndrome associated with intellectual disability. This study investigated communicative abilities of children with Sotos syndrome (n = 31), using the Children's Communication Checklist, second edition. A cross-syndrome approach was used to establish the specificity of these abilities. Children with Williams syndrome (n = 34) were used as a comparison group. In both groups, the majority of participants had communicative impairment. Children with Sotos syndrome had an uneven pragmatic language profile and greater impairment with social relations, compared with restricted interests. Overall, children with Sotos syndrome had difficulties with both language structure and pragmatic language and a specific profile of relative difficulty with using nonverbal communication, using context-appropriate language and understanding peer relationships. En ligne : https://dx.doi.org/10.1007/s10803-018-3842-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=388

Sensory processing in 16p11.2 deletion and 16p11.2 duplication / Harriet SMITH in Autism Research, 15-11 (November 2022)  

Public ISBD [article]  inAutism Research > 15-11 (November 2022) . - p.2081-2098 Titre : Sensory processing in 16p11.2 deletion and 16p11.2 duplication Type de document : texte imprimé Auteurs : Harriet SMITH, Auteur ; Chloe LANE, Auteur ; Reem AL-JAWAHIRI, Auteur ; Megan FREETH, Auteur Article en page(s) : p.2081-2098 Langues : Anglais (eng) Mots-clés : Child  Humans  Chromosome Deletion  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Intellectual Disability/genetics  Perception  Chromosomes, Human, Pair 16/genetics  Chromosome Disorders/complications/genetics  Adhd  anxiety  autistic  sensory processing  sensory systems Index. décimale : PER Périodiques Résumé : Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. However, whether and how sensory processing is affected has not yet been considered in detail. Parents/caregivers of 38 children with a 16p11.2 deletion and 31 children with a 16p11.2 duplication completed the Sensory Behavior Questionnaire (SBQ) and the Child Sensory Profile 2 (CSP-2) along with other standardized questionnaires assessing autistic traits (SRS-2), ADHD traits (Conners 3), anxiety (SCAS-P) and adaptive behavior (VABS-3). SBQ and CSP-2 responses found that sensory processing differences were clearly evident in both 16p11.2 deletion and 16p11.2 duplication, though there was significant variation in both cohorts. SBQ data indicated the frequency and impact of sensory behavior were more severe when compared to neurotypical children, with levels being similar to autistic children. CSP-2 data indicated over 70% of children displayed clear differences in sensory registration (missing sensory input). Seventy-one percent with 16p11.2 duplications were also unusually sensitive to sensory information and 57% with 16p11.2 duplications were unusually avoidant of sensory stimuli. This first detailed assessment of sensory processing, alongside other clinical features, in relatively large cohorts of children with a 16p11.2 deletion and 16p11.2 duplication demonstrates that sensory processing differences have a profound impact on their lives. En ligne : http://dx.doi.org/10.1002/aur.2802 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Sensory processing in 16p11.2 deletion and 16p11.2 duplication [texte imprimé] / Harriet SMITH, Auteur ; Chloe LANE, Auteur ; Reem AL-JAWAHIRI, Auteur ; Megan FREETH, Auteur . - p.2081-2098. Langues : Anglais (eng) in Autism Research > 15-11 (November 2022) . - p.2081-2098 Mots-clés : Child  Humans  Chromosome Deletion  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Intellectual Disability/genetics  Perception  Chromosomes, Human, Pair 16/genetics  Chromosome Disorders/complications/genetics  Adhd  anxiety  autistic  sensory processing  sensory systems Index. décimale : PER Périodiques Résumé : Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. However, whether and how sensory processing is affected has not yet been considered in detail. Parents/caregivers of 38 children with a 16p11.2 deletion and 31 children with a 16p11.2 duplication completed the Sensory Behavior Questionnaire (SBQ) and the Child Sensory Profile 2 (CSP-2) along with other standardized questionnaires assessing autistic traits (SRS-2), ADHD traits (Conners 3), anxiety (SCAS-P) and adaptive behavior (VABS-3). SBQ and CSP-2 responses found that sensory processing differences were clearly evident in both 16p11.2 deletion and 16p11.2 duplication, though there was significant variation in both cohorts. SBQ data indicated the frequency and impact of sensory behavior were more severe when compared to neurotypical children, with levels being similar to autistic children. CSP-2 data indicated over 70% of children displayed clear differences in sensory registration (missing sensory input). Seventy-one percent with 16p11.2 duplications were also unusually sensitive to sensory information and 57% with 16p11.2 duplications were unusually avoidant of sensory stimuli. This first detailed assessment of sensory processing, alongside other clinical features, in relatively large cohorts of children with a 16p11.2 deletion and 16p11.2 duplication demonstrates that sensory processing differences have a profound impact on their lives. En ligne : http://dx.doi.org/10.1002/aur.2802 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

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