Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD / Anusha GANDHI in Journal of Autism and Developmental Disorders, 51-6 (June 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1852-1865 Titre : Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD Type de document : texte imprimé Auteurs : Anusha GANDHI, Auteur ; Dihong ZHOU, Auteur ; Joseph ALAIMO, Auteur ; Edwin CHON, Auteur ; Michael D. FOUNTAIN, Auteur ; Sarah H. ELSEA, Auteur Article en page(s) : p.1852-1865 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics/physiopathology  Child  Child, Preschool  DNA-Binding Proteins  Facies  Female  Humans  Hyperventilation/genetics/physiopathology  Intellectual Disability/genetics/physiopathology  Male  Neurodevelopmental Disorders/genetics/physiopathology  Sleep/genetics  Sleep Wake Disorders/genetics/psychology  Smith-Magenis Syndrome/genetics/physiopathology  Autism spectrum disorder  MBD5-associated neurodevelopmental disorder  Neurodevelopmental disorder  Pitt–Hopkins syndrome  Sleep disturbance  Smith–Magenis syndrome Index. décimale : PER Périodiques Résumé : Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals. En ligne : http://dx.doi.org/10.1007/s10803-020-04666-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 [article] Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD [texte imprimé] / Anusha GANDHI, Auteur ; Dihong ZHOU, Auteur ; Joseph ALAIMO, Auteur ; Edwin CHON, Auteur ; Michael D. FOUNTAIN, Auteur ; Sarah H. ELSEA, Auteur . - p.1852-1865. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1852-1865 Mots-clés : Autism Spectrum Disorder/genetics/physiopathology  Child  Child, Preschool  DNA-Binding Proteins  Facies  Female  Humans  Hyperventilation/genetics/physiopathology  Intellectual Disability/genetics/physiopathology  Male  Neurodevelopmental Disorders/genetics/physiopathology  Sleep/genetics  Sleep Wake Disorders/genetics/psychology  Smith-Magenis Syndrome/genetics/physiopathology  Autism spectrum disorder  MBD5-associated neurodevelopmental disorder  Neurodevelopmental disorder  Pitt–Hopkins syndrome  Sleep disturbance  Smith–Magenis syndrome Index. décimale : PER Périodiques Résumé : Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals. En ligne : http://dx.doi.org/10.1007/s10803-020-04666-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452

Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay / Olivia J. VEATCH in Journal of Autism and Developmental Disorders, 45-1 (January 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-1 (January 2015) . - p.100-110 Titre : Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay Type de document : texte imprimé Auteurs : Olivia J. VEATCH, Auteur ; Julie S. PENDERGAST, Auteur ; Melissa J. ALLEN, Auteur ; Roberta M. LEU, Auteur ; Carl Hirschie JOHNSON, Auteur ; Sarah H. ELSEA, Auteur ; Beth A. MALOW, Auteur Article en page(s) : p.100-110 Langues : Anglais (eng) Mots-clés : Comorbidities  Genetic analyses  Phenotyping  Phenotypic subgroups  Biomarkers  Endophenotypes Index. décimale : PER Périodiques Résumé : Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and have been implicated in ASD. Genetic factors likely contribute to comorbid expression of sleep disorders in ASD. We studied a clinically unique ASD subgroup, consisting solely of children with comorbid expression of sleep onset delay. We evaluated variation in two melatonin pathway genes, acetylserotonin O-methyltransferase (ASMT) and cytochrome P450 1A2 (CYP1A2). We observed higher frequencies than currently reported (p < 0.04) for variants evidenced to decrease ASMT expression and related to decreased CYP1A2 enzyme activity (p ≤ 0.0007). We detected a relationship between genotypes in ASMT and CYP1A2 (r2 = 0.63). Our results indicate that expression of sleep onset delay relates to melatonin pathway genes. En ligne : http://dx.doi.org/10.1007/s10803-014-2197-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258 [article] Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay [texte imprimé] / Olivia J. VEATCH, Auteur ; Julie S. PENDERGAST, Auteur ; Melissa J. ALLEN, Auteur ; Roberta M. LEU, Auteur ; Carl Hirschie JOHNSON, Auteur ; Sarah H. ELSEA, Auteur ; Beth A. MALOW, Auteur . - p.100-110. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-1 (January 2015) . - p.100-110 Mots-clés : Comorbidities  Genetic analyses  Phenotyping  Phenotypic subgroups  Biomarkers  Endophenotypes Index. décimale : PER Périodiques Résumé : Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and have been implicated in ASD. Genetic factors likely contribute to comorbid expression of sleep disorders in ASD. We studied a clinically unique ASD subgroup, consisting solely of children with comorbid expression of sleep onset delay. We evaluated variation in two melatonin pathway genes, acetylserotonin O-methyltransferase (ASMT) and cytochrome P450 1A2 (CYP1A2). We observed higher frequencies than currently reported (p < 0.04) for variants evidenced to decrease ASMT expression and related to decreased CYP1A2 enzyme activity (p ≤ 0.0007). We detected a relationship between genotypes in ASMT and CYP1A2 (r2 = 0.63). Our results indicate that expression of sleep onset delay relates to melatonin pathway genes. En ligne : http://dx.doi.org/10.1007/s10803-014-2197-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258

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