ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males / Leonard ABBEDUTO in Journal of Autism and Developmental Disorders, 49-3 (March 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977 Titre : ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males Type de document : Texte imprimé et/ou numérique Auteurs : Leonard ABBEDUTO, Auteur ; A. J. THURMAN, Auteur ; A. MCDUFFIE, Auteur ; J. KLUSEK, Auteur ; R. T. FEIGLES, Auteur ; W. Ted BROWN, Auteur ; D. J. HARVEY, Auteur ; T. ADAYEV, Auteur ; G. LAFAUCI, Auteur ; C. DOBKINS, Auteur ; J. E. ROBERTS, Auteur Article en page(s) : p.960-977 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Fmrp  Fragile X syndrome  Iq  Language  Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males [Texte imprimé et/ou numérique] / Leonard ABBEDUTO, Auteur ; A. J. THURMAN, Auteur ; A. MCDUFFIE, Auteur ; J. KLUSEK, Auteur ; R. T. FEIGLES, Auteur ; W. Ted BROWN, Auteur ; D. J. HARVEY, Auteur ; T. ADAYEV, Auteur ; G. LAFAUCI, Auteur ; C. DOBKINS, Auteur ; J. E. ROBERTS, Auteur . - p.960-977. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977 Mots-clés : Autism spectrum disorder  Fmrp  Fragile X syndrome  Iq  Language  Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome / L. DEL HOYO SORIANO in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 22 p. Titre : Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. DEL HOYO SORIANO, Auteur ; A. J. THURMAN, Auteur ; D. J. HARVEY, Auteur ; W. Ted BROWN, Auteur ; Leonard ABBEDUTO, Auteur Année de publication : 2018 Article en page(s) : 22 p. Langues : Anglais (eng) Mots-clés : Anxiety  Closeness in the mother-child relationship  Crystallized intelligence  Fmrp  Females with FXS  Fluid intelligence  Longitudinal  Maternal psychological distress  Ratio of affected to total chromosomes  Withdrawal Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS. METHODS: We conducted a prospective 3-year longitudinal study of 16 females with FXS (with up to four assessments, each separated by a year) using an accelerated longitudinal design so that we had coverage of the age range of 10-15 years at study start and 13-18 at study end. We focused on both the level of functioning related to chronological age expectations (standard scores) and absolute change in skill (raw scores) over the 3-year period. RESULTS: At a cross-sectional level, fluid intelligence and crystallized intelligence were both predicted by a closer mother-child relationship and lower maternal psychological distress. However, only fluid intelligence was predicted by a lower ratio of affected to total chromosomes. Anxiety and withdrawal were predicted by a higher ratio of affected to total chromosomes. Withdrawal was also predicted by lower closeness in the mother-child relationship and higher maternal distress. In terms of longitudinal change, gains were observed in fluid and crystallized intelligence, whereas anxious and withdrawn behaviors remained stable over visits. Gains in fluid intelligence were solely predicted by FXS biomarkers (higher FMRP level and lower ratio of affected to total chromosomes), while gains in crystallized intelligence were not predicted by any of the biological and environmental variables. CONCLUSIONS: Our results show that FXS biomarkers and maternal variables contribute differentially to the cognitive and behavioral features of the adolescent female with FXS. These findings can help in the design of treatment studies aimed at enhancing cognitive and behavioral abilities in the FXS population. En ligne : http://dx.doi.org/10.1186/s11689-018-9240-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome [Texte imprimé et/ou numérique] / L. DEL HOYO SORIANO, Auteur ; A. J. THURMAN, Auteur ; D. J. HARVEY, Auteur ; W. Ted BROWN, Auteur ; Leonard ABBEDUTO, Auteur . - 2018 . - 22 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 22 p. Mots-clés : Anxiety  Closeness in the mother-child relationship  Crystallized intelligence  Fmrp  Females with FXS  Fluid intelligence  Longitudinal  Maternal psychological distress  Ratio of affected to total chromosomes  Withdrawal Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS. METHODS: We conducted a prospective 3-year longitudinal study of 16 females with FXS (with up to four assessments, each separated by a year) using an accelerated longitudinal design so that we had coverage of the age range of 10-15 years at study start and 13-18 at study end. We focused on both the level of functioning related to chronological age expectations (standard scores) and absolute change in skill (raw scores) over the 3-year period. RESULTS: At a cross-sectional level, fluid intelligence and crystallized intelligence were both predicted by a closer mother-child relationship and lower maternal psychological distress. However, only fluid intelligence was predicted by a lower ratio of affected to total chromosomes. Anxiety and withdrawal were predicted by a higher ratio of affected to total chromosomes. Withdrawal was also predicted by lower closeness in the mother-child relationship and higher maternal distress. In terms of longitudinal change, gains were observed in fluid and crystallized intelligence, whereas anxious and withdrawn behaviors remained stable over visits. Gains in fluid intelligence were solely predicted by FXS biomarkers (higher FMRP level and lower ratio of affected to total chromosomes), while gains in crystallized intelligence were not predicted by any of the biological and environmental variables. CONCLUSIONS: Our results show that FXS biomarkers and maternal variables contribute differentially to the cognitive and behavioral features of the adolescent female with FXS. These findings can help in the design of treatment studies aimed at enhancing cognitive and behavioral abilities in the FXS population. En ligne : http://dx.doi.org/10.1186/s11689-018-9240-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes / J. KLUSEK in Journal of Autism and Developmental Disorders, 52-2 (February 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.835-851 Titre : Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes Type de document : Texte imprimé et/ou numérique Auteurs : J. KLUSEK, Auteur ; A. J. THURMAN, Auteur ; Leonard ABBEDUTO, Auteur Article en page(s) : p.835-851 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Depression  Family  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/genetics  Humans  Language  Loneliness  Mothers  Phenotype  Autism spectrum disorder  Fragile X premutation  Fragile X syndrome  Social communication Index. décimale : PER Périodiques Résumé : Broader phenotypes associated with genetic liability, including mild difficulties with pragmatic language skills, have been documented in mothers of children with autism spectrum disorder (ASD) and mothers of children with fragile X syndrome (FXS). This study investigated the relationship between pragmatic difficulties and indicators of maternal well-being and family functioning. Pragmatic difficulty was associated with loneliness in mothers of children with ASD or FXS, and with depression, decreased life satisfaction, and poorer family relationship quality in mothers of children with FXS only. Results inform subtle maternal pragmatic language difficulties as a risk factor that that may contribute to reduced health and well-being, informing tailored support services to better meet the unique needs of families of children with ASD or FXS. En ligne : http://dx.doi.org/10.1007/s10803-021-04980-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes [Texte imprimé et/ou numérique] / J. KLUSEK, Auteur ; A. J. THURMAN, Auteur ; Leonard ABBEDUTO, Auteur . - p.835-851. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.835-851 Mots-clés : Autism Spectrum Disorder/genetics  Depression  Family  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/genetics  Humans  Language  Loneliness  Mothers  Phenotype  Autism spectrum disorder  Fragile X premutation  Fragile X syndrome  Social communication Index. décimale : PER Périodiques Résumé : Broader phenotypes associated with genetic liability, including mild difficulties with pragmatic language skills, have been documented in mothers of children with autism spectrum disorder (ASD) and mothers of children with fragile X syndrome (FXS). This study investigated the relationship between pragmatic difficulties and indicators of maternal well-being and family functioning. Pragmatic difficulty was associated with loneliness in mothers of children with ASD or FXS, and with depression, decreased life satisfaction, and poorer family relationship quality in mothers of children with FXS only. Results inform subtle maternal pragmatic language difficulties as a risk factor that that may contribute to reduced health and well-being, informing tailored support services to better meet the unique needs of families of children with ASD or FXS. En ligne : http://dx.doi.org/10.1007/s10803-021-04980-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome / A. J. THURMAN in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.2 Titre : The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. J. THURMAN, Auteur ; C. B. MERVIS, Auteur Article en page(s) : p.2 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : UNLABELLED: BACKGROUND: An important developmental task is to learn to recognize another person as a source of information and to utilize this information as a method of learning about the surrounding world. This socially guided form of learning, referred to as social referencing, is critical for the development of children's understanding of other people, themselves and their surrounding world. In the present project, the regulatory function of social referencing was examined in two genetic disorders that are characterized by differing patterns of socio-cognitive development: Down syndrome (DS) and Williams syndrome (WS). METHODS: Participants were 20 children with DS and 20 children with WS aged 42 to 71 months, matched on chronological age and gender. Each child participated in four studies: one study in which we examined performance in a social referencing paradigm and three studies in which we considered performance on tasks designed to tap each of three component abilities (initiating eye contact, gaze following and emotional responsivity) important for success in social referencing. RESULTS: The majority of children in both groups demonstrated positive behavioral responses regarding the stimulus in the Social Referencing task when the adult communicated a joyful message but did not regulate their own behavior in accordance with the adult's expression of fear. Between-group differences were observed in both conditions, with most differences indicating more advanced socio-communicative competence for children with DS than for children with WS even though the overall intellectual abilities and receptive language abilities of the children with WS were significantly higher than were those of the children with DS. The results of follow-up studies indicated that children with DS were more likely to initiate eye contact (unsolicited) and to follow another person's gaze in triadic situations than were children with WS. Neither group regulated their behavior in response to expressions of fear. CONCLUSIONS: These findings provide new insight into the development of the social cognitive phenotypes associated with DS and WS. These social cognitive differences found during the preschool years likely contribute to the differing phenotypes observed later in life between individuals with DS and individuals with WS. En ligne : http://dx.doi.org/10.1186/1866-1955-5-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 [article] The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome [Texte imprimé et/ou numérique] / A. J. THURMAN, Auteur ; C. B. MERVIS, Auteur . - p.2. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.2 Index. décimale : PER Périodiques Résumé : UNLABELLED: BACKGROUND: An important developmental task is to learn to recognize another person as a source of information and to utilize this information as a method of learning about the surrounding world. This socially guided form of learning, referred to as social referencing, is critical for the development of children's understanding of other people, themselves and their surrounding world. In the present project, the regulatory function of social referencing was examined in two genetic disorders that are characterized by differing patterns of socio-cognitive development: Down syndrome (DS) and Williams syndrome (WS). METHODS: Participants were 20 children with DS and 20 children with WS aged 42 to 71 months, matched on chronological age and gender. Each child participated in four studies: one study in which we examined performance in a social referencing paradigm and three studies in which we considered performance on tasks designed to tap each of three component abilities (initiating eye contact, gaze following and emotional responsivity) important for success in social referencing. RESULTS: The majority of children in both groups demonstrated positive behavioral responses regarding the stimulus in the Social Referencing task when the adult communicated a joyful message but did not regulate their own behavior in accordance with the adult's expression of fear. Between-group differences were observed in both conditions, with most differences indicating more advanced socio-communicative competence for children with DS than for children with WS even though the overall intellectual abilities and receptive language abilities of the children with WS were significantly higher than were those of the children with DS. The results of follow-up studies indicated that children with DS were more likely to initiate eye contact (unsolicited) and to follow another person's gaze in triadic situations than were children with WS. Neither group regulated their behavior in response to expressions of fear. CONCLUSIONS: These findings provide new insight into the development of the social cognitive phenotypes associated with DS and WS. These social cognitive differences found during the preschool years likely contribute to the differing phenotypes observed later in life between individuals with DS and individuals with WS. En ligne : http://dx.doi.org/10.1186/1866-1955-5-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345

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