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Early autism symptoms in infants with tuberous sclerosis complex / Nicole M. MCDONALD in Autism Research, 10-12 (December 2017)
[article]
Titre : Early autism symptoms in infants with tuberous sclerosis complex Type de document : Texte imprimé et/ou numérique Auteurs : Nicole M. MCDONALD, Auteur ; Kandice J. VARCIN, Auteur ; Rujuta BHATT, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Charles A. NELSON, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : p.1981-1990 Langues : Anglais (eng) Mots-clés : tuberous sclerosis complex autism spectrum disorder Autism Observation Scale for Infants high-risk infants early risk markers Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50–60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n?=?13) differed from TSC/no ASD infants (n?=?10) and infants with low developmental risk and no ASD (LR; n?=?21) in their social communication functioning during the first year of life. We measured early ASD symptoms with the Autism Observation Scale for Infants (AOSI) at 9 and 12 months of age. At both ages, infants in the TSC/ASD group had significantly higher AOSI total scores than infants in the TSC/no ASD and LR groups, which were not fully explained by differences in cognitive abilities. Several items on the AOSI at both ages were predictive of ASD outcome, particularly those representing core social communication deficits (e.g., social referencing). Our findings signal the need for further study of this population within the first year and provide strong justification for early identification and early intervention targeting social communication skills in infants with TSC. Autism Res 2017, 10: 1981–1990. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC. En ligne : http://dx.doi.org/10.1002/aur.1846 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323
in Autism Research > 10-12 (December 2017) . - p.1981-1990[article] Early autism symptoms in infants with tuberous sclerosis complex [Texte imprimé et/ou numérique] / Nicole M. MCDONALD, Auteur ; Kandice J. VARCIN, Auteur ; Rujuta BHATT, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Charles A. NELSON, Auteur ; Shafali S. JESTE, Auteur . - p.1981-1990.
Langues : Anglais (eng)
in Autism Research > 10-12 (December 2017) . - p.1981-1990
Mots-clés : tuberous sclerosis complex autism spectrum disorder Autism Observation Scale for Infants high-risk infants early risk markers Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50–60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n?=?13) differed from TSC/no ASD infants (n?=?10) and infants with low developmental risk and no ASD (LR; n?=?21) in their social communication functioning during the first year of life. We measured early ASD symptoms with the Autism Observation Scale for Infants (AOSI) at 9 and 12 months of age. At both ages, infants in the TSC/ASD group had significantly higher AOSI total scores than infants in the TSC/no ASD and LR groups, which were not fully explained by differences in cognitive abilities. Several items on the AOSI at both ages were predictive of ASD outcome, particularly those representing core social communication deficits (e.g., social referencing). Our findings signal the need for further study of this population within the first year and provide strong justification for early identification and early intervention targeting social communication skills in infants with TSC. Autism Res 2017, 10: 1981–1990. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC. En ligne : http://dx.doi.org/10.1002/aur.1846 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323 Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex / A. DICKINSON in Autism Research, 12-12 (December)
[article]
Titre : Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex Type de document : Texte imprimé et/ou numérique Auteurs : A. DICKINSON, Auteur ; Kandice J. VARCIN, Auteur ; M. SAHIN, Auteur ; C. A. NELSON, Auteur ; S. S. JESTE, Auteur Année de publication : 2019 Article en page(s) : p.1758-1773 Langues : Anglais (eng) Mots-clés : alpha oscillations autism spectrum disorder cognitive function electroencephalography functional connectivity infancy tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare genetic disorder that confers a high risk for autism spectrum disorders (ASD), with behavioral predictors of ASD emerging early in life. Deviations in structural and functional neural connectivity are highly implicated in both TSC and ASD. For the first time, we explore whether electroencephalographic (EEG) measures of neural network function precede or predict the emergence of ASD in TSC. We determine whether altered brain function (a) is present in infancy in TSC, (b) differentiates infants with TSC based on ASD diagnostic status, and (c) is associated with later cognitive function. We studied 35 infants with TSC (N = 35), and a group of typically developing infants (N = 20) at 12 and 24 months of age. Infants with TSC were later subdivided into ASD and non-ASD groups based on clinical evaluation. We measured features of spontaneous alpha oscillations (6-12 Hz) that are closely associated with neural network development: alpha power, alpha phase coherence (APC), and peak alpha frequency (PAF). Infants with TSC demonstrated reduced interhemispheric APC compared to controls at 12 months of age, and these differences were found to be most pronounced at 24 months in the infants who later developed ASD. Across all infants, PAF at 24 months was associated with verbal and nonverbal cognition at 36 months. Associations between early network function and later neurodevelopmental and cognitive outcomes highlight the potential utility of early scalable EEG markers to identify infants with TSC requiring additional targeted intervention initiated very early in life. Autism Res 2019, 12: 1758-1773. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Approximately half of infants with tuberous sclerosis complex (TSC) develop autism. Here, using EEG, we find that there is a reduction in communication between brain regions during infancy in TSC, and that the infants who show the largest reductions are those who later develop autism. Being able to identify infants who show early signs of disrupted brain development may improve the timing of early prediction and interventions in TSC, and also help us to understand how early brain changes lead to autism. En ligne : http://dx.doi.org/10.1002/aur.2193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=413
in Autism Research > 12-12 (December) . - p.1758-1773[article] Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex [Texte imprimé et/ou numérique] / A. DICKINSON, Auteur ; Kandice J. VARCIN, Auteur ; M. SAHIN, Auteur ; C. A. NELSON, Auteur ; S. S. JESTE, Auteur . - 2019 . - p.1758-1773.
Langues : Anglais (eng)
in Autism Research > 12-12 (December) . - p.1758-1773
Mots-clés : alpha oscillations autism spectrum disorder cognitive function electroencephalography functional connectivity infancy tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare genetic disorder that confers a high risk for autism spectrum disorders (ASD), with behavioral predictors of ASD emerging early in life. Deviations in structural and functional neural connectivity are highly implicated in both TSC and ASD. For the first time, we explore whether electroencephalographic (EEG) measures of neural network function precede or predict the emergence of ASD in TSC. We determine whether altered brain function (a) is present in infancy in TSC, (b) differentiates infants with TSC based on ASD diagnostic status, and (c) is associated with later cognitive function. We studied 35 infants with TSC (N = 35), and a group of typically developing infants (N = 20) at 12 and 24 months of age. Infants with TSC were later subdivided into ASD and non-ASD groups based on clinical evaluation. We measured features of spontaneous alpha oscillations (6-12 Hz) that are closely associated with neural network development: alpha power, alpha phase coherence (APC), and peak alpha frequency (PAF). Infants with TSC demonstrated reduced interhemispheric APC compared to controls at 12 months of age, and these differences were found to be most pronounced at 24 months in the infants who later developed ASD. Across all infants, PAF at 24 months was associated with verbal and nonverbal cognition at 36 months. Associations between early network function and later neurodevelopmental and cognitive outcomes highlight the potential utility of early scalable EEG markers to identify infants with TSC requiring additional targeted intervention initiated very early in life. Autism Res 2019, 12: 1758-1773. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Approximately half of infants with tuberous sclerosis complex (TSC) develop autism. Here, using EEG, we find that there is a reduction in communication between brain regions during infancy in TSC, and that the infants who show the largest reductions are those who later develop autism. Being able to identify infants who show early signs of disrupted brain development may improve the timing of early prediction and interventions in TSC, and also help us to understand how early brain changes lead to autism. En ligne : http://dx.doi.org/10.1002/aur.2193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=413 Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex / Wardiya AFSHAR SABER in Molecular Autism, 11 (2020)
[article]
Titre : Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex Type de document : Texte imprimé et/ou numérique Auteurs : Wardiya AFSHAR SABER, Auteur ; Mustafa SAHIN, Auteur Article en page(s) : 16 p. Langues : Anglais (eng) Mots-clés : Astrocytes Autism Brain organoids CRISPR/Cas9 Cortical tuber Human pluripotent stem cells Neurons Purkinje neurons Tuberous sclerosis complex Therapeutics, and Quadrant Biosciences and has served on the Scientific Advisory Board of Sage Therapeutics, Roche, Takeda, and PTEN Research Foundation. Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC. This approach combined with gene-editing tools such as CRISPR/Cas9 offers the advantage of preserving patient-specific genetic background and the ability to generate isogenic controls by correcting a specific mutation. The patient cell line and the isogenic control can be differentiated into the cell type of interest to model various aspects of TSC. In this review, we discuss the remarkable capacity of these cells to be used as a model for TSC in two- and three-dimensional cultures, the potential variability in iPSC models, and highlight differences between findings reported to date. En ligne : http://dx.doi.org/10.1186/s13229-020-0320-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 16 p.[article] Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex [Texte imprimé et/ou numérique] / Wardiya AFSHAR SABER, Auteur ; Mustafa SAHIN, Auteur . - 16 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 16 p.
Mots-clés : Astrocytes Autism Brain organoids CRISPR/Cas9 Cortical tuber Human pluripotent stem cells Neurons Purkinje neurons Tuberous sclerosis complex Therapeutics, and Quadrant Biosciences and has served on the Scientific Advisory Board of Sage Therapeutics, Roche, Takeda, and PTEN Research Foundation. Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC. This approach combined with gene-editing tools such as CRISPR/Cas9 offers the advantage of preserving patient-specific genetic background and the ability to generate isogenic controls by correcting a specific mutation. The patient cell line and the isogenic control can be differentiated into the cell type of interest to model various aspects of TSC. In this review, we discuss the remarkable capacity of these cells to be used as a model for TSC in two- and three-dimensional cultures, the potential variability in iPSC models, and highlight differences between findings reported to date. En ligne : http://dx.doi.org/10.1186/s13229-020-0320-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex / C. TYE in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
[article]
Titre : Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex Type de document : Texte imprimé et/ou numérique Auteurs : C. TYE, Auteur ; T. FARRONI, Auteur ; A. VOLEIN, Auteur ; E. MERCURE, Auteur ; L. TUCKER, Auteur ; M. H. JOHNSON, Auteur ; Patrick BOLTON, Auteur Article en page(s) : p.33 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Erp Face Gaze Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder that is likely to be the outcome of complex aetiological mechanisms. One strategy to provide insight is to study ASD within tuberous sclerosis complex (TSC), a rare disorder with a high incidence of ASD, but for which the genetic cause is determined. Individuals with ASD consistently demonstrate face processing impairments, but these have not been examined in adults with TSC using event-related potentials (ERPs) that are able to capture distinct temporal stages of processing. METHODS: For adults with TSC (n = 14), 6 of which had a diagnosis of ASD, and control adults (n = 13) passively viewed upright and inverted human faces with direct or averted gaze, with concurrent EEG recording. Amplitude and latency of the P1 and N170 ERPs were measured. RESULTS: Individuals with TSC + ASD exhibited longer N170 latencies to faces compared to typical adults. Typical adults and adults with TSC-only exhibited longer N170 latency to inverted versus upright faces, whereas individuals with TSC + ASD did not show latency differences according to face orientation. In addition, individuals with TSC + ASD showed increased N170 latency to averted compared to direct gaze, which was not demonstrated in typical adults. A reduced lateralization was shown for the TSC + ASD groups on P1 and N170 amplitude. CONCLUSIONS: The findings suggest that individuals with TSC + ASD may have similar electrophysiological abnormalities to idiopathic ASD and are suggestive of developmental delay. Identifying brain-based markers of ASD that are similar in TSC and idiopathic cases is likely to help elucidate the risk pathways to ASD. En ligne : http://dx.doi.org/10.1186/s11689-015-9129-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.33[article] Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex [Texte imprimé et/ou numérique] / C. TYE, Auteur ; T. FARRONI, Auteur ; A. VOLEIN, Auteur ; E. MERCURE, Auteur ; L. TUCKER, Auteur ; M. H. JOHNSON, Auteur ; Patrick BOLTON, Auteur . - p.33.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.33
Mots-clés : Autism spectrum disorder Erp Face Gaze Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder that is likely to be the outcome of complex aetiological mechanisms. One strategy to provide insight is to study ASD within tuberous sclerosis complex (TSC), a rare disorder with a high incidence of ASD, but for which the genetic cause is determined. Individuals with ASD consistently demonstrate face processing impairments, but these have not been examined in adults with TSC using event-related potentials (ERPs) that are able to capture distinct temporal stages of processing. METHODS: For adults with TSC (n = 14), 6 of which had a diagnosis of ASD, and control adults (n = 13) passively viewed upright and inverted human faces with direct or averted gaze, with concurrent EEG recording. Amplitude and latency of the P1 and N170 ERPs were measured. RESULTS: Individuals with TSC + ASD exhibited longer N170 latencies to faces compared to typical adults. Typical adults and adults with TSC-only exhibited longer N170 latency to inverted versus upright faces, whereas individuals with TSC + ASD did not show latency differences according to face orientation. In addition, individuals with TSC + ASD showed increased N170 latency to averted compared to direct gaze, which was not demonstrated in typical adults. A reduced lateralization was shown for the TSC + ASD groups on P1 and N170 amplitude. CONCLUSIONS: The findings suggest that individuals with TSC + ASD may have similar electrophysiological abnormalities to idiopathic ASD and are suggestive of developmental delay. Identifying brain-based markers of ASD that are similar in TSC and idiopathic cases is likely to help elucidate the risk pathways to ASD. En ligne : http://dx.doi.org/10.1186/s11689-015-9129-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex / J. TRICKETT in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex Type de document : Texte imprimé et/ou numérique Auteurs : J. TRICKETT, Auteur ; M. HEALD, Auteur ; C. OLIVER, Auteur ; C. RICHARDS, Auteur Article en page(s) : p.9 Langues : Anglais (eng) Mots-clés : Angelman syndrome Autism spectrum disorder Cross-group comparison Genetic syndromes Intellectual disability Sleep disturbance Smith-Magenis syndrome Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers. METHODS: The modified version of Simonds and Parraga's sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2-15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47). Associations between sleep disturbance and age, obesity, health conditions and overactivity/impulsivity were explored for each neurodevelopmental disorder group. RESULTS: Children with SMS displayed severe night waking (81%) and early morning waking (73%). In contrast, children with ASD experienced difficulties with sleep onset (30%) and sleep maintenance (43%). Fewer children with ASD (43%) and AS (46%) experienced severe night waking compared to children with SMS (both p < .01). Higher sleep-disordered breathing scores were identified for children with SMS (p < .001) and AS (p < .001) compared to the TD group. Sleep disturbance in children with AS and TSC was associated with poorer health. Children experiencing symptoms indicative of gastro-oesophageal reflux had significantly higher sleep-disordered breathing scores in the AS, SMS and ASD groups (all p < .01). A number of associations between overactivity, impulsivity, gastro-oesophageal reflux, age and sleep disturbance were found for certain groups. CONCLUSIONS: These data reveal syndrome-specific profiles of sleep disturbance. The divergent associations between sleep parameters and person characteristics, specifically symptoms of gastro-oesophageal reflux, overactivity and impulsivity and age, implicate aetiology-specific mechanisms underpinning sleep disturbance. The differences in prevalence, severity and mechanisms implicated in sleep disturbance between groups support a syndrome-sensitive approach to assessment and treatment of sleep disturbance in children with neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-018-9226-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.9[article] A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex [Texte imprimé et/ou numérique] / J. TRICKETT, Auteur ; M. HEALD, Auteur ; C. OLIVER, Auteur ; C. RICHARDS, Auteur . - p.9.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.9
Mots-clés : Angelman syndrome Autism spectrum disorder Cross-group comparison Genetic syndromes Intellectual disability Sleep disturbance Smith-Magenis syndrome Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers. METHODS: The modified version of Simonds and Parraga's sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2-15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47). Associations between sleep disturbance and age, obesity, health conditions and overactivity/impulsivity were explored for each neurodevelopmental disorder group. RESULTS: Children with SMS displayed severe night waking (81%) and early morning waking (73%). In contrast, children with ASD experienced difficulties with sleep onset (30%) and sleep maintenance (43%). Fewer children with ASD (43%) and AS (46%) experienced severe night waking compared to children with SMS (both p < .01). Higher sleep-disordered breathing scores were identified for children with SMS (p < .001) and AS (p < .001) compared to the TD group. Sleep disturbance in children with AS and TSC was associated with poorer health. Children experiencing symptoms indicative of gastro-oesophageal reflux had significantly higher sleep-disordered breathing scores in the AS, SMS and ASD groups (all p < .01). A number of associations between overactivity, impulsivity, gastro-oesophageal reflux, age and sleep disturbance were found for certain groups. CONCLUSIONS: These data reveal syndrome-specific profiles of sleep disturbance. The divergent associations between sleep parameters and person characteristics, specifically symptoms of gastro-oesophageal reflux, overactivity and impulsivity and age, implicate aetiology-specific mechanisms underpinning sleep disturbance. The differences in prevalence, severity and mechanisms implicated in sleep disturbance between groups support a syndrome-sensitive approach to assessment and treatment of sleep disturbance in children with neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-018-9226-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 Effects of bumetanide on neurodevelopmental impairments in patients with tuberous sclerosis complex: an open-label pilot study / Dorinde M. VAN ANDEL in Molecular Autism, 11 (2020)
PermalinkResting and Task-Modulated High-Frequency Brain Rhythms Measured by Scalp Encephalography in Infants with Tuberous Sclerosis Complex / Catherine STAMOULIS in Journal of Autism and Developmental Disorders, 45-2 (February 2015)
PermalinkSelf-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers / K. E. EDEN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
PermalinkTranslatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations / Pauline MARTIN ; Francis ROBERT ; Krzysztof J. SZKOP ; Nicholas E. REDMOND ; Srirupa BHATTACHARYYA ; Jennifer WANG ; Shan CHEN ; Roberta L. BEAUCHAMP ; Irene NOBELI ; Jerry PELLETIER ; Ola LARSSON ; Vijaya RAMESH in Molecular Autism, 14 (2023)
PermalinkSpecific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression / A. MUHLEBNER in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
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