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Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder / C. RICHARDS in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : C. RICHARDS, Auteur ; L. POWIS, Auteur ; J. MOSS, Auteur ; C. STINTON, Auteur ; L. NELSON, Auteur ; C. OLIVER, Auteur Article en page(s) : p.37 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Behavioural phenotype Hyperactivity Impulsivity Mood Phelan-McDermid syndrome Repetitive behaviour Shank3 Index. décimale : PER Périodiques Résumé : BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS. METHODS: Carers of individuals with PMS (N = 30; mean age = 10.55, SD = 7.08) completed questionnaires relating to impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and ASD phenomenology. These data were compared to data from matched samples of individuals with fragile X and Down syndromes and idiopathic ASD. In order to evaluate the profile of ASD phenomenology in PMS, two comparisons were made: first, including the total sample with PMS, and second, including only those who met the threshold indicative of autism on an ASD screening measure. RESULTS: The results revealed lower mood in individuals with PMS, but no differences in impulsivity and overactivity. Compulsive and routine-driven repetitive behaviours were less common in the total sample with PMS; however, motor-based stereotyped behaviours were more common. ASD phenomenology was highly prevalent, with 87% of the sample meeting the cutoff score for ASD and 57% meeting the cutoff for autism. The profile of ASD phenomenology in the total sample with PMS differed from those with idiopathic ASD across impairments in communication and social interaction and repetitive behaviour. However, the profile of those who met the threshold for autism was commensurate to those with idiopathic ASD. CONCLUSIONS: ASD phenomenology is common within PMS. Whilst the total sample may display an atypical profile of ASD behaviour, the profile in those who met the threshold for autism was very similar to those with idiopathic ASD. These results are discussed in relation to the wider behavioural phenotype and the emerging evidence of an autism endophenotype in PMS. En ligne : http://dx.doi.org/10.1186/s11689-017-9217-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.37[article] Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder [Texte imprimé et/ou numérique] / C. RICHARDS, Auteur ; L. POWIS, Auteur ; J. MOSS, Auteur ; C. STINTON, Auteur ; L. NELSON, Auteur ; C. OLIVER, Auteur . - p.37.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.37
Mots-clés : Autism spectrum disorder Behavioural phenotype Hyperactivity Impulsivity Mood Phelan-McDermid syndrome Repetitive behaviour Shank3 Index. décimale : PER Périodiques Résumé : BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS. METHODS: Carers of individuals with PMS (N = 30; mean age = 10.55, SD = 7.08) completed questionnaires relating to impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and ASD phenomenology. These data were compared to data from matched samples of individuals with fragile X and Down syndromes and idiopathic ASD. In order to evaluate the profile of ASD phenomenology in PMS, two comparisons were made: first, including the total sample with PMS, and second, including only those who met the threshold indicative of autism on an ASD screening measure. RESULTS: The results revealed lower mood in individuals with PMS, but no differences in impulsivity and overactivity. Compulsive and routine-driven repetitive behaviours were less common in the total sample with PMS; however, motor-based stereotyped behaviours were more common. ASD phenomenology was highly prevalent, with 87% of the sample meeting the cutoff score for ASD and 57% meeting the cutoff for autism. The profile of ASD phenomenology in the total sample with PMS differed from those with idiopathic ASD across impairments in communication and social interaction and repetitive behaviour. However, the profile of those who met the threshold for autism was commensurate to those with idiopathic ASD. CONCLUSIONS: ASD phenomenology is common within PMS. Whilst the total sample may display an atypical profile of ASD behaviour, the profile in those who met the threshold for autism was very similar to those with idiopathic ASD. These results are discussed in relation to the wider behavioural phenotype and the emerging evidence of an autism endophenotype in PMS. En ligne : http://dx.doi.org/10.1186/s11689-017-9217-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison / S. BISSELL in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison Type de document : Texte imprimé et/ou numérique Auteurs : S. BISSELL, Auteur ; L. WILDE, Auteur ; C. RICHARDS, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur Article en page(s) : p.2 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Behavioural phenotype Challenging behaviour Impulsivity Potocki-Lupski syndrome Repetitive behaviour Self-injury Smith-Magenis syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the suggestion that some behaviours may be diametric to those seen in SMS. METHODS: Caregivers of individuals with PTLS (N = 34; M age = 12.43, SD = 6.78) completed online behavioural questionnaires, including the Challenging Behaviour Questionnaire (CBQ), the Activity Questionnaire (TAQ), the Repetitive Behaviour Questionnaire (RBQ), the Mood, Interest and Pleasure Questionnaire-Short Form (MIPQ-S) and the Social Communication Questionnaire (SCQ), which assesses behaviours associated with ASD. Individuals with PTLS were matched on age and adaptive functioning to individuals with SMS (N = 31; M age = 13.61, SD = 6.85) and individuals with idiopathic ASD (N = 33; M age = 12.04, SD = 5.85) from an existing dataset. RESULTS: Individuals with PTLS and SMS were less impaired than those with idiopathic ASD on the communication and reciprocal social interaction subscales of the SCQ, but neither syndrome group differed from idiopathic ASD on the restricted, repetitive and stereotyped behaviours subscale. On the repetitive behaviour measure, individuals with PTLS and idiopathic ASD scored higher than individuals with SMS on the compulsive behaviour subscale. Rates of self-injury and property destruction were significantly lower in PTLS and idiopathic ASD than in SMS. No between-syndrome differences were found in relation to overactivity or mood; however, impulsivity was greater in SMS than in PTLS. CONCLUSIONS: Findings suggest some overlap in the behavioural phenotype of PTLS and features of ASD symptomatology; however, the overall profile of behaviours in PTLS appears to be divergent from both idiopathic ASD and SMS. Relative to idiopathic ASD, PTLS is not characterised by communication or social interaction deficits. However, restricted and repetitive behaviours were evident in PTLS, and these may be characterised specifically by compulsive behaviours. While several behavioural differences were identified between PTLS and SMS, there was little evidence of diametric behavioural phenotypes, particularly in relation to social behaviour. En ligne : http://dx.doi.org/10.1186/s11689-017-9221-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.2[article] The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison [Texte imprimé et/ou numérique] / S. BISSELL, Auteur ; L. WILDE, Auteur ; C. RICHARDS, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur . - p.2.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.2
Mots-clés : Autism spectrum disorder Behavioural phenotype Challenging behaviour Impulsivity Potocki-Lupski syndrome Repetitive behaviour Self-injury Smith-Magenis syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the suggestion that some behaviours may be diametric to those seen in SMS. METHODS: Caregivers of individuals with PTLS (N = 34; M age = 12.43, SD = 6.78) completed online behavioural questionnaires, including the Challenging Behaviour Questionnaire (CBQ), the Activity Questionnaire (TAQ), the Repetitive Behaviour Questionnaire (RBQ), the Mood, Interest and Pleasure Questionnaire-Short Form (MIPQ-S) and the Social Communication Questionnaire (SCQ), which assesses behaviours associated with ASD. Individuals with PTLS were matched on age and adaptive functioning to individuals with SMS (N = 31; M age = 13.61, SD = 6.85) and individuals with idiopathic ASD (N = 33; M age = 12.04, SD = 5.85) from an existing dataset. RESULTS: Individuals with PTLS and SMS were less impaired than those with idiopathic ASD on the communication and reciprocal social interaction subscales of the SCQ, but neither syndrome group differed from idiopathic ASD on the restricted, repetitive and stereotyped behaviours subscale. On the repetitive behaviour measure, individuals with PTLS and idiopathic ASD scored higher than individuals with SMS on the compulsive behaviour subscale. Rates of self-injury and property destruction were significantly lower in PTLS and idiopathic ASD than in SMS. No between-syndrome differences were found in relation to overactivity or mood; however, impulsivity was greater in SMS than in PTLS. CONCLUSIONS: Findings suggest some overlap in the behavioural phenotype of PTLS and features of ASD symptomatology; however, the overall profile of behaviours in PTLS appears to be divergent from both idiopathic ASD and SMS. Relative to idiopathic ASD, PTLS is not characterised by communication or social interaction deficits. However, restricted and repetitive behaviours were evident in PTLS, and these may be characterised specifically by compulsive behaviours. While several behavioural differences were identified between PTLS and SMS, there was little evidence of diametric behavioural phenotypes, particularly in relation to social behaviour. En ligne : http://dx.doi.org/10.1186/s11689-017-9221-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III / E. M. CROSS in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III Type de document : Texte imprimé et/ou numérique Auteurs : E. M. CROSS, Auteur ; S. GRANT, Auteur ; S. JONES, Auteur ; B. W. BIGGER, Auteur ; J. E. WRAITH, Auteur ; L. V. MAHON, Auteur ; M. LOMAX, Auteur ; D. J. HARE, Auteur Article en page(s) : p.46 Langues : Anglais (eng) Mots-clés : Behavioural phenotype Mps iii Mucopolysaccharidosis Sanfilippo syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Mucopolysaccharidosis type-III (MPS III) is an autosomal recessive lysosomal storage disorder. It causes progressive physical and cognitive decline and has been linked to increased incidences of behavioural problems. METHODS: Data on the behaviour and adaptive skills of 20 children with MPS III and 25 children with intellectual disability (ID) (17 included in analysis) were gathered via parental report questionnaire. The frequencies of different types of behaviour displayed by children with MPS III and children with ID were compared across two age categories. RESULTS: The total frequency of challenging behaviours displayed by children aged 2-9 years with MPS III and ID was not significantly different. Behaviours associated with hyperactivity, orality, unusual body movements and inattention were seen significantly more frequently in 2-9 year olds with MPS III than in those with ID. Children aged 10-15 years with MPS III showed significantly fewer problem behaviours than a contrasting group with ID. The frequency of challenging behaviours displayed by children with MPS III and their adaptive skills was found to decrease with age. CONCLUSIONS: Behaviours relating to hyperactivity, orality, unusual body movements and inattention are part of the behavioural phenotype of the middle phase of MPS III. The late phase of MPS III is associated with low rates of problem behaviour and loss of adaptive skills. Therefore, families with a child with MPS III may benefit from a different type of clinical service when the child is aged 2-9 years, than when aged 10-15 years. En ligne : http://dx.doi.org/10.1186/1866-1955-6-46 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.46[article] An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III [Texte imprimé et/ou numérique] / E. M. CROSS, Auteur ; S. GRANT, Auteur ; S. JONES, Auteur ; B. W. BIGGER, Auteur ; J. E. WRAITH, Auteur ; L. V. MAHON, Auteur ; M. LOMAX, Auteur ; D. J. HARE, Auteur . - p.46.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.46
Mots-clés : Behavioural phenotype Mps iii Mucopolysaccharidosis Sanfilippo syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Mucopolysaccharidosis type-III (MPS III) is an autosomal recessive lysosomal storage disorder. It causes progressive physical and cognitive decline and has been linked to increased incidences of behavioural problems. METHODS: Data on the behaviour and adaptive skills of 20 children with MPS III and 25 children with intellectual disability (ID) (17 included in analysis) were gathered via parental report questionnaire. The frequencies of different types of behaviour displayed by children with MPS III and children with ID were compared across two age categories. RESULTS: The total frequency of challenging behaviours displayed by children aged 2-9 years with MPS III and ID was not significantly different. Behaviours associated with hyperactivity, orality, unusual body movements and inattention were seen significantly more frequently in 2-9 year olds with MPS III than in those with ID. Children aged 10-15 years with MPS III showed significantly fewer problem behaviours than a contrasting group with ID. The frequency of challenging behaviours displayed by children with MPS III and their adaptive skills was found to decrease with age. CONCLUSIONS: Behaviours relating to hyperactivity, orality, unusual body movements and inattention are part of the behavioural phenotype of the middle phase of MPS III. The late phase of MPS III is associated with low rates of problem behaviour and loss of adaptive skills. Therefore, families with a child with MPS III may benefit from a different type of clinical service when the child is aged 2-9 years, than when aged 10-15 years. En ligne : http://dx.doi.org/10.1186/1866-1955-6-46 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes / A. WATKINS in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)
[article]
Titre : Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes Type de document : Texte imprimé et/ou numérique Auteurs : A. WATKINS, Auteur ; S. BISSELL, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur ; J. CLAYTON-SMITH, Auteur ; L. HAYE, Auteur ; M. HEALD, Auteur ; A. WELHAM, Auteur Article en page(s) : 24 p. Langues : Anglais (eng) Mots-clés : Angelman syndrome Autism spectrum disorder Behavioural phenotype Cornelia de Lange syndrome Pitt-Hopkins syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS). METHODS: Questionnaire data were collected from parents/caregivers of individuals with PTHS (n = 24), assessing behaviours associated with autism spectrum disorder (ASD), sociability, mood, repetitive behaviour, sensory processing, challenging behaviours and overactivity and impulsivity. For most measures, data were compared to data for people with AS (n = 24) and CdLS (n = 24) individually matched by adaptive ability, age and sex. RESULTS: Individuals with PTHS evidenced significantly higher levels of difficulties with social communication and reciprocal social interaction than individuals with AS, with 21 of 22 participants with PTHS meeting criteria indicative of ASD on a screening instrument. Individuals with PTHS were reported to be less sociable with familiar and unfamiliar people than individuals with AS, but more sociable with unfamiliar people than individuals with CdLS. Data also suggested areas of atypicality in sensory experiences. Challenging behaviours were reported frequently in PTHS, with self-injury (70.8%) occurring at significantly higher rates than in AS (41.7%) and aggression (54.2%) occurring at significantly higher rates than in CdLS (25%). Individuals with PTHS also evidenced lower reported mood than individuals with AS. CONCLUSIONS: Behaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research. En ligne : https://dx.doi.org/10.1186/s11689-019-9282-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 24 p.[article] Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes [Texte imprimé et/ou numérique] / A. WATKINS, Auteur ; S. BISSELL, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur ; J. CLAYTON-SMITH, Auteur ; L. HAYE, Auteur ; M. HEALD, Auteur ; A. WELHAM, Auteur . - 24 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 24 p.
Mots-clés : Angelman syndrome Autism spectrum disorder Behavioural phenotype Cornelia de Lange syndrome Pitt-Hopkins syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS). METHODS: Questionnaire data were collected from parents/caregivers of individuals with PTHS (n = 24), assessing behaviours associated with autism spectrum disorder (ASD), sociability, mood, repetitive behaviour, sensory processing, challenging behaviours and overactivity and impulsivity. For most measures, data were compared to data for people with AS (n = 24) and CdLS (n = 24) individually matched by adaptive ability, age and sex. RESULTS: Individuals with PTHS evidenced significantly higher levels of difficulties with social communication and reciprocal social interaction than individuals with AS, with 21 of 22 participants with PTHS meeting criteria indicative of ASD on a screening instrument. Individuals with PTHS were reported to be less sociable with familiar and unfamiliar people than individuals with AS, but more sociable with unfamiliar people than individuals with CdLS. Data also suggested areas of atypicality in sensory experiences. Challenging behaviours were reported frequently in PTHS, with self-injury (70.8%) occurring at significantly higher rates than in AS (41.7%) and aggression (54.2%) occurring at significantly higher rates than in CdLS (25%). Individuals with PTHS also evidenced lower reported mood than individuals with AS. CONCLUSIONS: Behaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research. En ligne : https://dx.doi.org/10.1186/s11689-019-9282-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families? / Lauren J. TAYLOR in Research in Autism Spectrum Disorders, 11 (March 2015)
[article]
Titre : Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families? Type de document : Texte imprimé et/ou numérique Auteurs : Lauren J. TAYLOR, Auteur ; Murray T. MAYBERY, Auteur ; John WRAY, Auteur ; David RAVINE, Auteur ; Anna HUNT, Auteur ; Andrew J. O. WHITEHOUSE, Auteur Article en page(s) : p.56-62 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder Behavioural phenotype Simplex and multiplex families Index. décimale : PER Périodiques Résumé : Recent research suggests that different genetic pathways may operate for families with one child affected with Autism Spectrum Disorder (simplex ASD), compared to families that have multiple affected children (multiplex ASD). In this study, we investigated possible differences in the behavioural phenotypes of probands from simplex and multiplex ASD families using parent-report and standardised behavioural measures. Participants were 59 probands from multiplex ASD families (28 families), who were each matched on chronological age and sex with two probands from simplex families. Probands from multiplex families had greater social impairment (measured using the Social Responsiveness Scale) and worse pragmatic language (on the Children's Communication Checklist-2) than probands from simplex families. However, the multiplex children had less severe symptoms than the simplex children on the ADOS-G, and a significantly higher proportion of multiplex children did not meet autism spectrum cut-offs on this measure. These findings indicate that there are behavioural differences in children with ASD from simplex and multiplex families. In addition, the results reveal an important discrepancy between parent-report and clinician observation of autistic-like characteristics in siblings of an affected child, which may have implications for the assessment and diagnosis of ASD. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.12.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260
in Research in Autism Spectrum Disorders > 11 (March 2015) . - p.56-62[article] Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families? [Texte imprimé et/ou numérique] / Lauren J. TAYLOR, Auteur ; Murray T. MAYBERY, Auteur ; John WRAY, Auteur ; David RAVINE, Auteur ; Anna HUNT, Auteur ; Andrew J. O. WHITEHOUSE, Auteur . - p.56-62.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 11 (March 2015) . - p.56-62
Mots-clés : Autism Spectrum Disorder Behavioural phenotype Simplex and multiplex families Index. décimale : PER Périodiques Résumé : Recent research suggests that different genetic pathways may operate for families with one child affected with Autism Spectrum Disorder (simplex ASD), compared to families that have multiple affected children (multiplex ASD). In this study, we investigated possible differences in the behavioural phenotypes of probands from simplex and multiplex ASD families using parent-report and standardised behavioural measures. Participants were 59 probands from multiplex ASD families (28 families), who were each matched on chronological age and sex with two probands from simplex families. Probands from multiplex families had greater social impairment (measured using the Social Responsiveness Scale) and worse pragmatic language (on the Children's Communication Checklist-2) than probands from simplex families. However, the multiplex children had less severe symptoms than the simplex children on the ADOS-G, and a significantly higher proportion of multiplex children did not meet autism spectrum cut-offs on this measure. These findings indicate that there are behavioural differences in children with ASD from simplex and multiplex families. In addition, the results reveal an important discrepancy between parent-report and clinician observation of autistic-like characteristics in siblings of an affected child, which may have implications for the assessment and diagnosis of ASD. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.12.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260 Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome / Jo MOSS in Autism, 17-4 (July 2013)
PermalinkDevelopment, behaviour and autism in individuals with SMC1A variants / P. A. MULDER in Journal of Child Psychology and Psychiatry, 60-3 (March 2019)
PermalinkExecutive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance / D. REID in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
PermalinkExecutive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance / D. REID in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
PermalinkPractitioner Review: Self-injurious behaviour in children with developmental delay / Chris OLIVER in Journal of Child Psychology and Psychiatry, 56-10 (October 2015)
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